#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_ORegAnno_bin	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
AAK1	22848	genome.wustl.edu	37	2	69759247	69759247	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:69759247G>A	ENST00000409085.4	-	6	958	c.582C>T	c.(580-582)gaC>gaT	p.D194D	AAK1_ENST00000406297.3_Silent_p.D194D|AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000409068.1_Silent_p.D194D	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	194	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						CGCTTCCAAAGTCACACAGGA	0.428																																						dbGAP											0													135.0	132.0	133.0					2																	69759247		1973	4165	6138	-	-	-	SO:0001819	synonymous_variant	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.582C>T	2.37:g.69759247G>A			Q4ZFZ3|Q53RX6|Q9UPV4	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.D194	ENST00000409085.4	37	c.582	CCDS1893.2	2																																																																																			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		0.428	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	205	0.00	0	G	NM_014911		69759247	69759247	-1	no_errors	ENST00000409085	ensembl	human	known	69_37n	silent	210	12.45	30	SNP	1.000	A
AARS2	57505	genome.wustl.edu	37	6	44279266	44279266	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:44279266C>T	ENST00000244571.4	-	3	444	c.442G>A	c.(442-444)Gct>Act	p.A148T	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATGTTACAAGCCTCCTCCTGC	0.567																																						dbGAP											0													44.0	43.0	44.0					6																	44279266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.442G>A	6.37:g.44279266C>T	ENSP00000244571:p.Ala148Thr			Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,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.A148T	ENST00000244571.4	37	c.442	CCDS34464.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.214299	0.95104	.	.	ENSG00000124608	ENST00000244571	T	0.74947	-0.89	4.88	4.88	0.63580	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84651	0.5519	M	0.85630	2.765	0.58432	D	0.999999	D	0.69078	0.997	P	0.62649	0.905	D	0.86694	0.1925	10	0.62326	D	0.03	-10.5607	18.215	0.89882	0.0:1.0:0.0:0.0	.	148	Q5JTZ9	SYAM_HUMAN	T	148	ENSP00000244571:A148T	ENSP00000244571:A148T	A	-	1	0	AARS2	44387244	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.901000	0.69861	2.523000	0.85059	0.563000	0.77884	GCT	AARS2	-	pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-synth_IIc	ENSG00000124608		0.567	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS2	HGNC	protein_coding	OTTHUMT00000040741.2	49	0.00	0	C	NM_020745		44279266	44279266	-1	no_errors	ENST00000244571	ensembl	human	known	69_37n	missense	28	60.00	42	SNP	1.000	T
AASDHPPT	60496	genome.wustl.edu	37	11	105948530	105948530	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:105948530C>T	ENST00000278618.4	+	1	315	c.93C>T	c.(91-93)gcC>gcT	p.A31A	KBTBD3_ENST00000526793.1_5'Flank|KBTBD3_ENST00000531837.1_5'Flank|KBTBD3_ENST00000534815.1_5'Flank	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	31					macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)	p.A31A(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		CGAGCCGAGCCGAATGGCTGC	0.607																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											74.0	76.0	75.0					11																	105948530		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.93C>T	11.37:g.105948530C>T			B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	Silent	SNP	pfam_4-PPantetheinyl_Trfase,superfamily_4-PPantetheinyl_Trfase	p.A31	ENST00000278618.4	37	c.93	CCDS31664.1	11																																																																																			AASDHPPT	-	superfamily_4-PPantetheinyl_Trfase	ENSG00000149313		0.607	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AASDHPPT	HGNC	protein_coding	OTTHUMT00000388734.1	48	0.00	0	C	NM_015423		105948530	105948530	+1	no_errors	ENST00000278618	ensembl	human	known	69_37n	silent	21	16.00	4	SNP	0.995	T
ABCA13	154664	genome.wustl.edu	37	7	48266957	48266957	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:48266957C>T	ENST00000435803.1	+	6	591	c.567C>T	c.(565-567)caC>caT	p.H189H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	189					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGAGACTACACACAAGCCATG	0.408																																						dbGAP											0													110.0	111.0	111.0					7																	48266957		1891	4132	6023	-	-	-	SO:0001819	synonymous_variant	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.567C>T	7.37:g.48266957C>T			K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H189	ENST00000435803.1	37	c.567	CCDS47584.1	7																																																																																			ABCA13	-	NULL	ENSG00000179869		0.408	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	328	0.00	0	C	NM_152701		48266957	48266957	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	silent	264	10.51	31	SNP	0.000	T
ABCB10	23456	genome.wustl.edu	37	1	229666009	229666009	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:229666009G>A	ENST00000344517.4	-	8	1624	c.1582C>T	c.(1582-1584)Cca>Tca	p.P528S		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	528	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GAACCACTTGGGCCAACCAGT	0.522																																						dbGAP											0													110.0	102.0	105.0					1																	229666009		2203	4300	6503	-	-	-	SO:0001583	missense	0			U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1582C>T	1.37:g.229666009G>A	ENSP00000355637:p.Pro528Ser		Q13040|Q6P1Q8|Q9H3V0	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.P528S	ENST00000344517.4	37	c.1582	CCDS1580.1	1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244408	0.39697	.	.	ENSG00000135776	ENST00000344517	D	0.93953	-3.32	5.53	1.35	0.21983	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.369121	0.34580	N	0.003846	D	0.89385	0.6700	L	0.54908	1.71	0.42866	D	0.99412	B	0.10296	0.003	B	0.08055	0.003	T	0.81348	-0.0973	10	0.36615	T	0.2	-2.8747	10.0338	0.42116	0.3629:0.0:0.6371:0.0	.	528	Q9NRK6	ABCBA_HUMAN	S	528	ENSP00000355637:P528S	ENSP00000355637:P528S	P	-	1	0	ABCB10	227732632	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	0.675000	0.25232	0.046000	0.15833	0.563000	0.77884	CCA	ABCB10	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000135776		0.522	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB10	HGNC	protein_coding	OTTHUMT00000095240.1	190	0.00	0	G	NM_012089		229666009	229666009	-1	no_errors	ENST00000344517	ensembl	human	known	69_37n	missense	222	20.14	56	SNP	0.999	A
ABCC12	94160	genome.wustl.edu	37	16	48120416	48120416	+	Intron	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:48120416G>A	ENST00000311303.3	-	26	4060				ABCC12_ENST00000448542.1_Intron|ABCC12_ENST00000532355.1_5'UTR|ABCC12_ENST00000416054.1_Intron	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12							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)				gagcattgtagtaaggaccaa	0.398																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.3714+235C>T	16.37:g.48120416G>A			Q49AL2|Q8TAF0|Q8TEY2	RNA	SNP	-	NULL	ENST00000311303.3	37	NULL	CCDS10730.1	16																																																																																			ABCC12	-	-	ENSG00000140798		0.398	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	20	0.00	0	G	NM_033226		48120416	48120416	-1	no_errors	ENST00000532355	ensembl	human	known	69_37n	rna	26	21.21	7	SNP	0.000	A
ABCC11	85320	genome.wustl.edu	37	16	48248819	48248819	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:48248819G>A	ENST00000394747.1	-	8	1570	c.1221C>T	c.(1219-1221)tcC>tcT	p.S407S	ABCC11_ENST00000356608.2_Silent_p.S407S|ABCC11_ENST00000353782.5_Silent_p.S407S|ABCC11_ENST00000537808.1_Silent_p.S407S|ABCC11_ENST00000394748.1_Silent_p.S407S	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	407	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	p.S407S(1)		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)	TCAGCTTTAAGGATGTGTGGA	0.483																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											128.0	106.0	114.0					16																	48248819		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	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.1221C>T	16.37:g.48248819G>A			Q8TDJ0|Q96JA6|Q9BX80	Silent	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.S407	ENST00000394747.1	37	c.1221	CCDS10732.1	16																																																																																			ABCC11	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000121270		0.483	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	125	0.00	0	G	NM_032583		48248819	48248819	-1	no_errors	ENST00000356608	ensembl	human	known	69_37n	silent	68	20.00	17	SNP	0.000	A
ABCC5	10057	genome.wustl.edu	37	3	183667819	183667819	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:183667819C>T	ENST00000334444.6	-	21	3279	c.3039G>A	c.(3037-3039)tgG>tgA	p.W1013*	ABCC5_ENST00000265586.6_Nonsense_Mutation_p.W1013*	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1013	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|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)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CCACAAGGAACCACGGGAAGA	0.552																																						dbGAP											0													57.0	65.0	62.0					3																	183667819		2079	4223	6302	-	-	-	SO:0001587	stop_gained	0			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3039G>A	3.37:g.183667819C>T	ENSP00000333926:p.Trp1013*		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Nonsense_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.W1013*	ENST00000334444.6	37	c.3039	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	C	41	8.952385	0.99014	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-9.668	20.0833	0.97789	0.0:1.0:0.0:0.0	.	.	.	.	X	1013	.	ENSP00000265586:W1013X	W	-	3	0	ABCC5	185150513	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.802000	0.85969	2.756000	0.94617	0.655000	0.94253	TGG	ABCC5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000114770		0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	62	0.00	0	C	NM_005688		183667819	183667819	-1	no_errors	ENST00000334444	ensembl	human	known	69_37n	nonsense	56	20.00	14	SNP	1.000	T
ABCC9	10060	genome.wustl.edu	37	12	22059194	22059194	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:22059194G>A	ENST00000261201.4	-	10	1483	c.1484C>T	c.(1483-1485)aCa>aTa	p.T495I	ABCC9_ENST00000345162.2_Missense_Mutation_p.T495I|ABCC9_ENST00000261200.4_Missense_Mutation_p.T495I	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	495	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				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)	TATTTCATTTGTTTTCTTGAG	0.348																																						dbGAP											0													98.0	93.0	94.0					12																	22059194		2203	4298	6501	-	-	-	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.1484C>T	12.37:g.22059194G>A	ENSP00000261201:p.Thr495Ile		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.T495I	ENST00000261201.4	37	c.1484	CCDS8694.1	12	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840547	0.71488	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36	4.65	4.65	0.58169	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	0.92185	0.7522	L	0.46741	1.465	0.80722	D	1	D;D	0.67145	0.996;0.96	D;P	0.71870	0.975;0.672	D	0.92232	0.5793	10	0.48119	T	0.1	-14.787	17.7097	0.88318	0.0:0.0:1.0:0.0	.	495;495	O60706;O60706-2	ABCC9_HUMAN;.	I	495;158;495;495	ENSP00000261200:T495I;ENSP00000440521:T158I;ENSP00000261201:T495I;ENSP00000261202:T495I	ENSP00000261200:T495I	T	-	2	0	ABCC9	21950461	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	9.584000	0.98220	2.383000	0.81215	0.655000	0.94253	ACA	ABCC9	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000069431		0.348	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	ABCC9	HGNC	protein_coding	OTTHUMT00000402230.1	87	0.00	0	G	NM_005691		22059194	22059194	-1	no_errors	ENST00000261200	ensembl	human	known	69_37n	missense	58	13.43	9	SNP	1.000	A
ABHD12	26090	genome.wustl.edu	37	20	25290081	25290081	+	Splice_Site	SNP	C	C	T	rs201317014		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:25290081C>T	ENST00000339157.5	-	7	1022		c.e7+1		ABHD12_ENST00000376542.3_Splice_Site|ABHD12_ENST00000481556.1_Splice_Site	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12						adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GGGTCCCTTACCCAGTGCCCA	0.567																																						dbGAP											0													83.0	70.0	74.0					20																	25290081		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.749+1G>A	20.37:g.25290081C>T			A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Splice_Site	SNP	-	e7+1	ENST00000339157.5	37	c.749+1	CCDS42857.1	20	.	.	.	.	.	.	.	.	.	.	C	17.75	3.465831	0.63513	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.667	0.88206	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABHD12	25238081	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	6.919000	0.75793	2.522000	0.85027	0.650000	0.86243	.	ABHD12	-	-	ENSG00000100997		0.567	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD12	HGNC	protein_coding	OTTHUMT00000078423.2	18	0.00	0	C	NM_015600	Intron	25290081	25290081	-1	no_errors	ENST00000376542	ensembl	human	known	69_37n	splice_site	27	34.15	14	SNP	1.000	T
ACACA	31	genome.wustl.edu	37	17	35615233	35615233	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:35615233G>A	ENST00000394406.2	-	13	1642	c.1452C>T	c.(1450-1452)ccC>ccT	p.P484P	ACACA_ENST00000353139.5_Silent_p.P521P|ACACA_ENST00000360679.3_Silent_p.P426P|ACACA_ENST00000335166.5_Silent_p.P406P	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	484	Biotin carboxylation.				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)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AATCACCCCAGGGAGATACCC	0.418																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											0													92.0	88.0	89.0					17																	35615233		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1452C>T	17.37:g.35615233G>A			B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Silent	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,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,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.P521	ENST00000394406.2	37	c.1563	CCDS11317.1	17																																																																																			ACACA	-	pfscan_Biotin_carboxylation_dom	ENSG00000132142		0.418	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	181	0.00	0	G	NM_198836		35615233	35615233	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	silent	93	21.19	25	SNP	1.000	A
ACAD10	80724	genome.wustl.edu	37	12	112184921	112184921	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:112184921G>A	ENST00000313698.4	+	15	2480	c.2325G>A	c.(2323-2325)caG>caA	p.Q775Q	ACAD10_ENST00000392636.2_Silent_p.Q377Q|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Silent_p.Q806Q	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	775						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						CCGAAGCGCAGAAGGCTCGCT	0.597																																						dbGAP											0													84.0	70.0	74.0					12																	112184921		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.2325G>A	12.37:g.112184921G>A			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.Q806	ENST00000313698.4	37	c.2418	CCDS31903.1	12																																																																																			ACAD10	-	pfam_Acyl-CoA_DH_N,superfamily_AcylCoA_DH/oxidase	ENSG00000111271		0.597	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	HGNC	protein_coding	OTTHUMT00000368307.1	32	0.00	0	G	NM_025247		112184921	112184921	+1	no_errors	ENST00000455480	ensembl	human	known	69_37n	silent	29	50.85	30	SNP	1.000	A
ACAD9	28976	genome.wustl.edu	37	3	128623247	128623247	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:128623247G>A	ENST00000308982.7	+	11	1129	c.1048G>A	c.(1048-1050)Gct>Act	p.A350T	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	350						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TGCACTGATGGCTCAGAAGGC	0.473																																						dbGAP											0													97.0	87.0	91.0					3																	128623247		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1048G>A	3.37:g.128623247G>A	ENSP00000312618:p.Ala350Thr		D3DNB8|Q8WXX3	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.A350T	ENST00000308982.7	37	c.1048	CCDS3053.1	3	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241454	0.79912	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.96459	-4.02	5.7	5.7	0.88788	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.046963	0.85682	D	0.000000	D	0.96528	0.8867	M	0.76002	2.32	0.80722	D	1	P;D	0.55605	0.549;0.972	B;P	0.47891	0.337;0.56	D	0.96581	0.9430	10	0.56958	D	0.05	.	17.3409	0.87296	0.0:0.0:1.0:0.0	.	227;350	Q9H9W4;Q9H845	.;ACAD9_HUMAN	T	350;217	ENSP00000312618:A350T	ENSP00000312618:A350T	A	+	1	0	ACAD9	130105937	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.900000	0.69853	2.688000	0.91661	0.655000	0.94253	GCT	ACAD9	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C	ENSG00000177646		0.473	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	57	0.00	0	G	NM_014049		128623247	128623247	+1	no_errors	ENST00000308982	ensembl	human	known	69_37n	missense	58	17.14	12	SNP	1.000	A
ACOT9	23597	genome.wustl.edu	37	X	23748991	23748991	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:23748991G>A	ENST00000336430.7	-	4	408	c.277C>T	c.(277-279)Cct>Tct	p.P93S	ACOT9_ENST00000379303.5_Missense_Mutation_p.P102S|ACOT9_ENST00000492081.1_Missense_Mutation_p.P33S|ACOT9_ENST00000379295.1_Missense_Mutation_p.P33S	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	93					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CTGCCCAAAGGCAAGAGAACT	0.378																																						dbGAP											0													100.0	84.0	90.0					X																	23748991		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.277C>T	X.37:g.23748991G>A	ENSP00000336580:p.Pro93Ser		B3KNC9|B7ZM94	Missense_Mutation	SNP	pfam_Thioestr_supf	p.P102S	ENST00000336430.7	37	c.304	CCDS35216.1	X	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899316	0.91962	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295;ENST00000473710;ENST00000492081	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.66458	0.2791	M	0.91038	3.17	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	T	0.73956	-0.3819	10	0.66056	D	0.02	-15.604	19.057	0.93069	0.0:0.0:1.0:0.0	.	60;93;102	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	S	102;93;33;47;33	ENSP00000368605:P102S;ENSP00000336580:P93S;ENSP00000368597:P33S;ENSP00000420490:P47S;ENSP00000417778:P33S	ENSP00000336580:P93S	P	-	1	0	ACOT9	23658912	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.011000	0.93618	2.449000	0.82847	0.600000	0.82982	CCT	ACOT9	-	NULL	ENSG00000123130		0.378	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT9	HGNC	protein_coding	OTTHUMT00000056065.1	227	0.00	0	G	NM_012332		23748991	23748991	-1	no_errors	ENST00000379303	ensembl	human	known	69_37n	missense	237	12.50	34	SNP	1.000	A
ACOX3	8310	genome.wustl.edu	37	4	8391438	8391438	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:8391438C>T	ENST00000356406.5	-	12	1401	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	ACOX3_ENST00000503233.1_Missense_Mutation_p.D442N|ACOX3_ENST00000413009.2_Missense_Mutation_p.D442N	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	442					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCGTTGTCATCTCTAAGGACA	0.473																																						dbGAP											0													262.0	215.0	231.0					4																	8391438		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1324G>A	4.37:g.8391438C>T	ENSP00000348775:p.Asp442Asn		Q96AJ8	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.D442N	ENST00000356406.5	37	c.1324	CCDS3401.1	4	.	.	.	.	.	.	.	.	.	.	C	0.773	-0.765227	0.02996	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	D;D;D	0.95821	-3.82;-3.82;-3.82	3.82	-1.27	0.09347	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.421081	0.24991	N	0.033981	T	0.81922	0.4925	N	0.02213	-0.635	0.09310	N	0.999999	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.13407	0.002;0.008;0.009	T	0.72544	-0.4261	10	0.05436	T	0.98	-10.8477	9.7939	0.40722	0.0:0.1588:0.0:0.8412	.	442;442;442	B2R856;O15254-2;O15254	.;.;ACOX3_HUMAN	N	442	ENSP00000413994:D442N;ENSP00000348775:D442N;ENSP00000421625:D442N	ENSP00000348775:D442N	D	-	1	0	ACOX3	8442338	0.124000	0.22315	0.035000	0.18076	0.949000	0.60115	0.353000	0.20130	-0.120000	0.11809	0.655000	0.94253	GAT	ACOX3	-	pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase	ENSG00000087008		0.473	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX3	HGNC	protein_coding	OTTHUMT00000206997.4	62	0.00	0	C			8391438	8391438	-1	no_errors	ENST00000356406	ensembl	human	known	69_37n	missense	39	25.00	13	SNP	0.066	T
ACSL6	23305	genome.wustl.edu	37	5	131302146	131302146	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:131302146C>T	ENST00000379240.1	-	17	1754	c.1601G>A	c.(1600-1602)gGc>gAc	p.G534D	ACSL6_ENST00000379246.1_Missense_Mutation_p.G545D|ACSL6_ENST00000379255.1_Missense_Mutation_p.G459D|ACSL6_ENST00000379264.2_Missense_Mutation_p.G559D|ACSL6_ENST00000357096.1_Missense_Mutation_p.G459D|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379272.2_Missense_Mutation_p.G549D|ACSL6_ENST00000296869.4_Missense_Mutation_p.G559D|ACSL6_ENST00000544770.1_Missense_Mutation_p.G443D|ACSL6_ENST00000379244.1_Missense_Mutation_p.G534D|ACSL6_ENST00000543479.1_Missense_Mutation_p.G534D|ACSL6_ENST00000431707.1_Missense_Mutation_p.G514D|ACSL6_ENST00000379249.3_Missense_Mutation_p.G534D			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	534					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|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)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGAAGCCAGCCATCGCTGTC	0.527																																						dbGAP											0													153.0	141.0	145.0					5																	131302146		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1601G>A	5.37:g.131302146C>T	ENSP00000368542:p.Gly534Asp		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G559D	ENST00000379240.1	37	c.1676		5	.	.	.	.	.	.	.	.	.	.	C	32	5.152131	0.94645	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.20200	2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09;2.09	5.58	5.58	0.84498	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.62319	0.2418	H	0.95260	3.645	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.994;0.996;1.0;0.994;0.994;0.994	T	0.73739	-0.3888	10	0.87932	D	0	.	19.922	0.97089	0.0:1.0:0.0:0.0	.	534;549;524;534;459;559;559	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	D	534;559;549;459;459;559;545;534;443;534;514;534	ENSP00000368551:G534D;ENSP00000368566:G559D;ENSP00000368574:G549D;ENSP00000349608:G459D;ENSP00000368557:G459D;ENSP00000296869:G559D;ENSP00000368548:G545D;ENSP00000368546:G534D;ENSP00000445154:G443D;ENSP00000368542:G534D;ENSP00000413329:G514D;ENSP00000442124:G534D	ENSP00000296869:G559D	G	-	2	0	ACSL6	131330045	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	7.734000	0.84928	2.780000	0.95670	0.655000	0.94253	GGC	ACSL6	-	pfam_AMP-dep_Synth/Lig	ENSG00000164398		0.527	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	HGNC	protein_coding	OTTHUMT00000132622.1	120	0.00	0	C	NM_015256		131302146	131302146	-1	no_errors	ENST00000296869	ensembl	human	known	69_37n	missense	53	33.75	27	SNP	1.000	T
ACSM2B	348158	genome.wustl.edu	37	16	20554525	20554525	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:20554525C>T	ENST00000329697.6	-	11	1509	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	ACSM2B_ENST00000565322.1_Silent_p.R368R|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000567001.1_Silent_p.R447R|ACSM2B_ENST00000565232.1_Silent_p.R447R	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	447					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.R447R(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTTTGATTCCCCGGTCTCCAA	0.493																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											180.0	205.0	196.0					16																	20554525		2200	4296	6496	-	-	-	SO:0001819	synonymous_variant	0			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1341G>A	16.37:g.20554525C>T			Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G25E	ENST00000329697.6	37	c.74	CCDS10586.1	16																																																																																			ACSM2B	-	pfam_AMP-dep_Synth/Lig	ENSG00000066813		0.493	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	427	0.00	0	C	NM_182617		20554525	20554525	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000568098	ensembl	human	novel	69_37n	missense	357	24.04	113	SNP	0.996	T
ACTR1B	10120	genome.wustl.edu	37	2	98273951	98273951	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:98273951C>T	ENST00000289228.5	-	9	1163	c.947G>A	c.(946-948)aGt>aAt	p.S316N		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	316					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CTTCACTTCACTGAGTAATCG	0.597																																						dbGAP											0													118.0	128.0	124.0					2																	98273951		2203	4300	6503	-	-	-	SO:0001583	missense	0			X82207	CCDS2033.1	2q11.1-q11.2	2008-05-20	2001-11-28		ENSG00000115073	ENSG00000115073			168	protein-coding gene	gene with protein product		605144	"""ARP1 (actin-related protein 1, yeast) homolog B (centractin beta)"""	CTRN2		7696711, 10343100	Standard	NM_005735		Approved		uc002syb.2	P42025	OTTHUMG00000130549	ENST00000289228.5:c.947G>A	2.37:g.98273951C>T	ENSP00000289228:p.Ser316Asn		D3DVH2|Q53SK5|Q9BRB7	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.S316N	ENST00000289228.5	37	c.947	CCDS2033.1	2	.	.	.	.	.	.	.	.	.	.	.	11.53	1.666118	0.29604	.	.	ENSG00000115073	ENST00000289228	D	0.94537	-3.45	5.37	5.37	0.77165	.	0.054225	0.64402	D	0.000001	D	0.89128	0.6627	N	0.12663	0.25	0.50313	D	0.99986	B	0.06786	0.001	B	0.13407	0.009	D	0.85336	0.1093	10	0.87932	D	0	.	16.6037	0.84822	0.0:1.0:0.0:0.0	.	316	P42025	ACTY_HUMAN	N	316	ENSP00000289228:S316N	ENSP00000289228:S316N	S	-	2	0	ACTR1B	97640383	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.868000	0.69605	2.513000	0.84729	0.561000	0.74099	AGT	ACTR1B	-	pfam_Actin-like,smart_Actin-like	ENSG00000115073		0.597	ACTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR1B	HGNC	protein_coding	OTTHUMT00000252973.1	69	0.00	0	C	NM_005735		98273951	98273951	-1	no_errors	ENST00000289228	ensembl	human	known	69_37n	missense	67	22.99	20	SNP	1.000	T
ACVR2A	92	genome.wustl.edu	37	2	148672803	148672803	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:148672803C>T	ENST00000241416.7	+	5	1208	c.572C>T	c.(571-573)cCa>cTa	p.P191L	ACVR2A_ENST00000404590.1_Missense_Mutation_p.P191L|ACVR2A_ENST00000535787.1_Missense_Mutation_p.P83L	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	191					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GGTTTGAAACCACTGCAGTTA	0.398																																						dbGAP											0													133.0	134.0	133.0					2																	148672803		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.572C>T	2.37:g.148672803C>T	ENSP00000241416:p.Pro191Leu		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	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,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.P191L	ENST00000241416.7	37	c.572	CCDS33301.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.188915	0.94923	.	.	ENSG00000121989	ENST00000241416;ENST00000535787;ENST00000404590	D;D;D	0.93366	-3.21;-3.21;-3.21	5.82	5.82	0.92795	Protein kinase-like domain (1);	0.045942	0.85682	D	0.000000	D	0.94466	0.8219	M	0.76574	2.34	0.80722	D	1	D	0.54964	0.969	P	0.46975	0.533	D	0.94397	0.7619	10	0.56958	D	0.05	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	191	P27037	AVR2A_HUMAN	L	191;83;191	ENSP00000241416:P191L;ENSP00000439988:P83L;ENSP00000384338:P191L	ENSP00000241416:P191L	P	+	2	0	ACVR2A	148389273	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.818000	0.86416	2.765000	0.95021	0.650000	0.86243	CCA	ACVR2A	-	superfamily_Kinase-like_dom	ENSG00000121989		0.398	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	353	0.00	0	C	NM_001616		148672803	148672803	+1	no_errors	ENST00000241416	ensembl	human	known	69_37n	missense	208	14.75	36	SNP	1.000	T
ADAM15	8751	genome.wustl.edu	37	1	155032746	155032746	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:155032746G>A	ENST00000356955.2	+	18	2235	c.2134G>A	c.(2134-2136)Ggt>Agt	p.G712S	ADAM15_ENST00000449910.2_Missense_Mutation_p.G712S|ADAM15_ENST00000360674.4_Missense_Mutation_p.G712S|ADAM15_ENST00000368410.2_Missense_Mutation_p.G418S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Missense_Mutation_p.G418S|ADAM15_ENST00000368412.3_Missense_Mutation_p.G712S|ADAM15_ENST00000355956.2_Missense_Mutation_p.G712S|ADAM15_ENST00000359280.4_Missense_Mutation_p.G712S|ADAM15_ENST00000531455.1_Missense_Mutation_p.G722S|ADAM15_ENST00000271836.6_Missense_Mutation_p.G712S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	712					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGTGATGCTTGGTGCCAGCTA	0.617																																						dbGAP											0													63.0	56.0	58.0					1																	155032746		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.2134G>A	1.37:g.155032746G>A	ENSP00000349436:p.Gly712Ser		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.G712S	ENST00000356955.2	37	c.2134	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408243	0.83340	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.02258	5.69;5.69;5.7;5.61;5.57;5.68;4.37;5.68;4.37;5.7	5.06	5.06	0.68205	.	0.000000	0.44688	D	0.000427	T	0.01695	0.0054	N	0.02751	-0.505	0.39225	D	0.963562	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999	T	0.74791	-0.3545	10	0.30078	T	0.28	.	14.1289	0.65240	0.0:0.0:1.0:0.0	.	722;729;712;712;712;712;712;712;712;712;709	E9PN65;B7Z390;Q13444-7;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	S	712;712;712;712;712;712;418;712;418;722	ENSP00000349436:G712S;ENSP00000403843:G712S;ENSP00000352226:G712S;ENSP00000353892:G712S;ENSP00000357397:G712S;ENSP00000348227:G712S;ENSP00000357395:G418S;ENSP00000271836:G712S;ENSP00000357398:G418S;ENSP00000432927:G722S	ENSP00000271836:G712S	G	+	1	0	ADAM15	153299370	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.862000	0.48388	2.783000	0.95769	0.655000	0.94253	GGT	ADAM15	-	NULL	ENSG00000143537		0.617	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	60	0.00	0	G	NM_003815		155032746	155032746	+1	no_errors	ENST00000356955	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	A
ADAM22	53616	genome.wustl.edu	37	7	87825800	87825800	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:87825800C>T	ENST00000265727.7	+	31	2794	c.2715C>T	c.(2713-2715)tcC>tcT	p.S905S	ADAM22_ENST00000398204.4_Silent_p.S869S|ADAM22_ENST00000315984.7_Silent_p.S898S|ADAM22_ENST00000398209.3_Silent_p.S898S			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	905					adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGGAGACATCCATTTAAGATC	0.368																																						dbGAP											0													144.0	133.0	137.0					7																	87825800		1905	4130	6035	-	-	-	SO:0001819	synonymous_variant	0			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.2715C>T	7.37:g.87825800C>T			O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	NULL	p.H263Y	ENST00000265727.7	37	c.787	CCDS47637.1	7	.	.	.	.	.	.	.	.	.	.	C	8.442	0.851002	0.17034	.	.	ENSG00000008277	ENST00000413139	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	T	0.76666	0.4019	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74390	-0.3681	4	.	.	.	.	19.9281	0.97110	0.0:1.0:0.0:0.0	.	.	.	.	Y	263	.	.	H	+	1	0	ADAM22	87663736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.715000	0.47210	2.708000	0.92522	0.585000	0.79938	CAT	ADAM22	-	NULL	ENSG00000008277		0.368	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM22	HGNC	protein_coding	OTTHUMT00000268370.2	109	0.00	0	C	NM_021723		87825800	87825800	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000413139	ensembl	human	novel	69_37n	missense	94	22.31	27	SNP	1.000	T
ADAMTSL1	92949	genome.wustl.edu	37	9	18829922	18829922	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:18829922C>T	ENST00000380548.4	+	23	4535	c.4196C>T	c.(4195-4197)aCg>aTg	p.T1399M	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.T100M	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1399	Ig-like C2-type 4.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCAGTGCTGACGTCTCCTCTG	0.572																																						dbGAP											0													81.0	83.0	82.0					9																	18829922		2079	4211	6290	-	-	-	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.4196C>T	9.37:g.18829922C>T	ENSP00000369921:p.Thr1399Met		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T100M	ENST00000380548.4	37	c.299	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523645	0.44866	.	.	ENSG00000178031	ENST00000380548;ENST00000380545;ENST00000316239;ENST00000380541;ENST00000380538	T;T;T	0.74737	-0.17;0.0;-0.87	5.81	3.96	0.45880	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.380785	0.27700	N	0.018202	T	0.67211	0.2869	L	0.52905	1.665	0.27471	N	0.952854	B;B	0.22909	0.063;0.077	B;B	0.24541	0.021;0.054	T	0.56426	-0.7981	10	0.28530	T	0.3	.	10.1271	0.42656	0.0:0.8449:0.0:0.1551	.	100;1399	Q8N6G6-6;Q8N6G6	.;ATL1_HUMAN	M	1399;100;103;103;1	ENSP00000369921:T1399M;ENSP00000369918:T100M;ENSP00000369911:T1M	ENSP00000325584:T103M	T	+	2	0	ADAMTSL1	18819922	0.803000	0.28956	0.955000	0.39395	0.992000	0.81027	1.275000	0.33144	0.792000	0.33850	0.655000	0.94253	ACG	ADAMTSL1	-	pfscan_Ig-like	ENSG00000178031		0.572	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	133	0.00	0	C			18829922	18829922	+1	no_errors	ENST00000388710	ensembl	human	known	69_37n	missense	96	17.24	20	SNP	0.946	T
ADAMTSL4	54507	genome.wustl.edu	37	1	150530562	150530562	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:150530562C>T	ENST00000369038.2	+	12	2520	c.2319C>T	c.(2317-2319)aaC>aaT	p.N773N	ADAMTSL4_ENST00000369041.5_Silent_p.N773N|ADAMTSL4_ENST00000369039.5_Silent_p.N796N|ADAMTSL4_ENST00000271643.4_Silent_p.N773N|RP11-54A4.2_ENST00000442435.2_RNA			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	773	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	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;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCGGCCCAACATCACCCAGT	0.682																																						dbGAP											0													80.0	81.0	81.0					1																	150530562		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000369038.2:c.2319C>T	1.37:g.150530562C>T			B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Silent	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.N796	ENST00000369038.2	37	c.2388	CCDS955.1	1																																																																																			ADAMTSL4	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000143382		0.682	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	45	0.00	0	C	NM_019032		150530562	150530562	+1	no_errors	ENST00000369039	ensembl	human	known	69_37n	silent	11	42.11	8	SNP	0.999	T
ADD1	118	genome.wustl.edu	37	4	2900189	2900189	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:2900189G>A	ENST00000398129.1	+	7	935	c.915G>A	c.(913-915)gtG>gtA	p.V305V	ADD1_ENST00000446856.1_Silent_p.V305V|ADD1_ENST00000398125.1_Silent_p.V305V|ADD1_ENST00000355842.3_Silent_p.V305V|ADD1_ENST00000398123.2_Silent_p.V305V|ADD1_ENST00000503455.2_Silent_p.V305V|ADD1_ENST00000264758.7_Silent_p.V305V|ADD1_ENST00000513328.2_Silent_p.V305V			P35611	ADDA_HUMAN	adducin 1 (alpha)	305					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)		ATGGGCTCGTGTCAGTTGGAG	0.517																																					Esophageal Squamous(71;505 1201 20414 34538 37449)	dbGAP											0													168.0	165.0	166.0					4																	2900189		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.915G>A	4.37:g.2900189G>A			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.C11Y	ENST00000398129.1	37	c.32	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	G	10.68	1.417768	0.25552	.	.	ENSG00000087274	ENST00000514940	.	.	.	5.77	-1.97	0.07503	.	.	.	.	.	T	0.53530	0.1802	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48269	-0.9050	4	.	.	.	-22.0912	8.4459	0.32841	0.5034:0.1141:0.3825:0.0	.	.	.	.	Y	11	.	.	C	+	2	0	ADD1	2869987	0.993000	0.37304	0.364000	0.25888	0.906000	0.53458	0.299000	0.19138	-0.360000	0.08138	-0.150000	0.13652	TGT	ADD1	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	ENSG00000087274		0.517	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	243	0.00	0	G	NM_014189		2900189	2900189	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000514940	ensembl	human	known	69_37n	missense	285	11.76	38	SNP	0.995	A
AEBP1	165	genome.wustl.edu	37	7	44153316	44153316	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:44153316G>A	ENST00000223357.3	+	21	3238	c.2933G>A	c.(2932-2934)tGc>tAc	p.C978Y	MIR4649_ENST00000582839.1_RNA|AEBP1_ENST00000450684.2_Missense_Mutation_p.C553Y	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	978	Interaction with PTEN. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCCACTCAGTGCAACTTCATC	0.602																																						dbGAP											0													122.0	113.0	116.0					7																	44153316		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.2933G>A	7.37:g.44153316G>A	ENSP00000223357:p.Cys978Tyr		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.C978Y	ENST00000223357.3	37	c.2933	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681512	0.88542	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.12879	2.64;2.64	4.98	4.98	0.66077	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.40040	0.1101	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.992;1.0	T	0.27706	-1.0066	10	0.66056	D	0.02	-48.6965	18.222	0.89904	0.0:0.0:1.0:0.0	.	553;978	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	Y	978;553	ENSP00000223357:C978Y;ENSP00000398878:C553Y	ENSP00000223357:C978Y	C	+	2	0	AEBP1	44119841	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.692000	0.98682	2.486000	0.83907	0.557000	0.71058	TGC	AEBP1	-	superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14	ENSG00000106624		0.602	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	24	0.00	0	G	NM_001129		44153316	44153316	+1	no_errors	ENST00000223357	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	1.000	A
AGBL1	123624	genome.wustl.edu	37	15	86807530	86807530	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:86807530delG	ENST00000441037.2	+	10	1085	c.990delG	c.(988-990)aagfs	p.K330fs	AGBL1_ENST00000389298.3_Frame_Shift_Del_p.K61fs|AGBL1_ENST00000421325.2_Frame_Shift_Del_p.K330fs	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	330					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						ACTCTGAAAAGACTCAGTATG	0.443																																						dbGAP											0													46.0	50.0	49.0					15																	86807530		2196	4294	6490	-	-	-	SO:0001589	frameshift_variant	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.990delG	15.37:g.86807530delG	ENSP00000413001:p.Lys330fs		A1A4X5|A6NJH6|C9JHL5	Frame_Shift_Del	DEL	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.T331fs	ENST00000441037.2	37	c.990	CCDS58398.1	15																																																																																			AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.443	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	71	0.00	0	G	NM_152336		86807530	86807530	+1	no_errors	ENST00000441037	ensembl	human	known	69_37n	frame_shift_del	56	16.18	11	DEL	0.000	-
AGBL1	123624	genome.wustl.edu	37	15	86807532	86807532	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:86807532C>T	ENST00000441037.2	+	10	1087	c.992C>T	c.(991-993)aCt>aTt	p.T331I	AGBL1_ENST00000389298.3_Missense_Mutation_p.T62I|AGBL1_ENST00000421325.2_Missense_Mutation_p.T331I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	331					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						TCTGAAAAGACTCAGTATGCC	0.448																																						dbGAP											0													47.0	50.0	49.0					15																	86807532		2196	4295	6491	-	-	-	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.992C>T	15.37:g.86807532C>T	ENSP00000413001:p.Thr331Ile		A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.T331I	ENST00000441037.2	37	c.992	CCDS58398.1	15	.	.	.	.	.	.	.	.	.	.	C	8.916	0.959880	0.18507	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.09817	2.94;2.94	5.3	-3.77	0.04346	Armadillo-type fold (1);	2.632460	0.00984	N	0.003437	T	0.11281	0.0275	M	0.64997	1.995	0.09310	N	1	B;B;B	0.16802	0.019;0.011;0.0	B;B;B	0.12837	0.008;0.008;0.001	T	0.36648	-0.9739	10	0.44086	T	0.13	0.3496	2.0722	0.03616	0.1218:0.1749:0.24:0.4633	.	30;62;331	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	I	360;331;62	ENSP00000397173:T331I;ENSP00000373949:T62I	ENSP00000373949:T62I	T	+	2	0	AGBL1	84608536	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.316000	0.08071	-0.262000	0.09392	-0.355000	0.07637	ACT	AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.448	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	79	0.00	0	C	NM_152336		86807532	86807532	+1	no_errors	ENST00000441037	ensembl	human	known	69_37n	missense	61	17.33	13	SNP	0.000	T
AHCYL2	23382	genome.wustl.edu	37	7	129037156	129037156	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:129037156G>A	ENST00000325006.3	+	5	868	c.814G>A	c.(814-816)Gca>Aca	p.A272T	AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000490911.1_Missense_Mutation_p.A169T|AHCYL2_ENST00000474594.1_Missense_Mutation_p.A169T|AHCYL2_ENST00000446544.2_Missense_Mutation_p.A271T|AHCYL2_ENST00000531335.2_Missense_Mutation_p.A191T|AHCYL2_ENST00000446212.1_Missense_Mutation_p.A170T	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	272					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TGCTGCTCTAGCAGAAAGTGG	0.448																																					Pancreas(160;1736 1964 29875 40941 45605)	dbGAP											0													74.0	71.0	72.0					7																	129037156		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.814G>A	7.37:g.129037156G>A	ENSP00000315931:p.Ala272Thr		B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase	p.A272T	ENST00000325006.3	37	c.814	CCDS5812.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.729353	0.96856	.	.	ENSG00000158467	ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993	T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.91761	0.7394	M	0.93062	3.375	0.80722	D	1	P;P;D;P;D	0.61080	0.912;0.912;0.989;0.912;0.986	P;P;D;P;P	0.65874	0.863;0.863;0.939;0.863;0.899	D	0.93498	0.6842	10	0.87932	D	0	-7.2485	17.8185	0.88643	0.0:0.0:1.0:0.0	.	169;170;272;169;271	B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.;.;SAHH3_HUMAN;.;.	T	272;271;191;169;170;169;170	ENSP00000315931:A272T;ENSP00000413639:A271T;ENSP00000431787:A191T;ENSP00000420459:A169T;ENSP00000405267:A170T;ENSP00000420801:A169T;ENSP00000419608:A170T	ENSP00000315931:A272T	A	+	1	0	AHCYL2	128824392	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.555000	0.98123	2.631000	0.89168	0.650000	0.86243	GCA	AHCYL2	-	pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase	ENSG00000158467		0.448	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHCYL2	HGNC	protein_coding	OTTHUMT00000354065.1	43	0.00	0	G			129037156	129037156	+1	no_errors	ENST00000325006	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	1.000	A
AKAP11	11215	genome.wustl.edu	37	13	42871190	42871190	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:42871190G>A	ENST00000025301.2	+	6	398	c.223G>A	c.(223-225)Gct>Act	p.A75T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	75					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCAGGATTTAGCTGCAGTTTC	0.294																																						dbGAP											0													60.0	66.0	64.0					13																	42871190		2196	4284	6480	-	-	-	SO:0001583	missense	0			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.223G>A	13.37:g.42871190G>A	ENSP00000025301:p.Ala75Thr		O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.A75T	ENST00000025301.2	37	c.223	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	G	20.2	3.946048	0.73672	.	.	ENSG00000023516	ENST00000025301	T	0.15603	2.41	5.92	5.92	0.95590	.	0.440852	0.24447	N	0.038441	T	0.26702	0.0653	L	0.40543	1.245	0.33421	D	0.579903	D	0.59767	0.986	P	0.56088	0.791	T	0.07712	-1.0758	10	0.23891	T	0.37	.	15.966	0.79970	0.0:0.0:0.8572:0.1428	.	75	Q9UKA4	AKA11_HUMAN	T	75	ENSP00000025301:A75T	ENSP00000025301:A75T	A	+	1	0	AKAP11	41769190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.873000	0.48475	2.810000	0.96702	0.585000	0.79938	GCT	AKAP11	-	NULL	ENSG00000023516		0.294	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	216	0.00	0	G	NM_016248		42871190	42871190	+1	no_errors	ENST00000025301	ensembl	human	known	69_37n	missense	138	10.39	16	SNP	1.000	A
AKAP13	11214	genome.wustl.edu	37	15	86123221	86123222	+	Missense_Mutation	DNP	AT	AT	TG			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A|T	A|T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:86123221_86123222AT>TG	ENST00000394518.2	+	7	2017_2018	c.1922_1923AT>TG	c.(1921-1923)cAT>cTG	p.H641L	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Missense_Mutation_p.H641L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	641					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						AATTCATCTCATGCTCAAAGCC	0.455																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0																																										-	-	-	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		Exception_encountered	15.37:g.86123221_86123222delinsTG	ENSP00000378026:p.His641Leu		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.H641L|p.H641Q	ENST00000394518.2	37	c.1922|c.1923	CCDS32319.1	15																																																																																			AKAP13	-	NULL	ENSG00000170776		0.455	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	236|239	0.00	0	A|T	NM_007200		86123221|86123222	86123221|86123222	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	missense	137|141	11.04|10.76	17	SNP	0.001|0.000	T|G
AKAP13	11214	genome.wustl.edu	37	15	86286812	86286812	+	Silent	SNP	C	C	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:86286812C>A	ENST00000394518.2	+	36	8243	c.8148C>A	c.(8146-8148)gcC>gcA	p.A2716A	RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_Silent_p.A961A|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.A2720A	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2716	Interaction with ESR1.				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						CTTCCATAGCCAAATCAGGGT	0.493																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													137.0	145.0	142.0					15																	86286812		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.8148C>A	15.37:g.86286812C>A			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.A2720	ENST00000394518.2	37	c.8160	CCDS32319.1	15																																																																																			AKAP13	-	NULL	ENSG00000170776		0.493	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	224	0.00	0	C	NM_007200		86286812	86286812	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	silent	162	10.00	18	SNP	0.100	A
AKAP6	9472	genome.wustl.edu	37	14	33015881	33015881	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:33015881G>A	ENST00000280979.4	+	4	2192	c.2022G>A	c.(2020-2022)atG>atA	p.M674I	AKAP6_ENST00000557272.1_Missense_Mutation_p.M674I|AKAP6_ENST00000557354.1_Missense_Mutation_p.M674I	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	674					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)		TGTCTGAAATGAATTCAGATT	0.418																																					Melanoma(49;821 1200 7288 13647 42351)	dbGAP											0													98.0	97.0	97.0					14																	33015881		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.2022G>A	14.37:g.33015881G>A	ENSP00000280979:p.Met674Ile		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.M674I	ENST00000280979.4	37	c.2022	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681855	0.68042	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.28895	1.59;1.59;1.59	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	M	0.62723	1.935	0.44834	D	0.997843	B;B	0.30824	0.15;0.296	B;B	0.26310	0.027;0.068	T	0.09840	-1.0656	10	0.87932	D	0	-16.7341	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	674;674	A7E242;Q13023	.;AKAP6_HUMAN	I	674	ENSP00000280979:M674I;ENSP00000450531:M674I;ENSP00000451247:M674I	ENSP00000280979:M674I	M	+	3	0	AKAP6	32085632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.799000	0.47892	2.941000	0.99782	0.655000	0.94253	ATG	AKAP6	-	NULL	ENSG00000151320		0.418	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	262	0.00	0	G	NM_004274		33015881	33015881	+1	no_errors	ENST00000280979	ensembl	human	known	69_37n	missense	182	11.65	24	SNP	1.000	A
AKR1E2	83592	genome.wustl.edu	37	10	4889402	4889402	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:4889402C>T	ENST00000298375.7	+	9	971	c.900C>T	c.(898-900)ctC>ctT	p.L300L	AKR1E2_ENST00000345253.5_Silent_p.L202L|AKR1E2_ENST00000334019.4_Silent_p.L243L|AKR1E2_ENST00000532248.1_Silent_p.L243L	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	300						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						ACAGGAATCTCCGACTGGCCA	0.363																																					NSCLC(43;343 1097 20371 28813 45509)	dbGAP											0													140.0	132.0	135.0					10																	4889402		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.900C>T	10.37:g.4889402C>T			Q86Z16|Q86Z17|Q86Z18|Q9BU71	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.L300	ENST00000298375.7	37	c.900	CCDS31134.1	10																																																																																			AKR1E2	-	superfamily_NADP_OxRdtase_dom	ENSG00000165568		0.363	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1E2	HGNC	protein_coding	OTTHUMT00000046520.4	216	0.00	0	C	NM_031436		4889402	4889402	+1	no_errors	ENST00000298375	ensembl	human	known	69_37n	silent	126	54.01	148	SNP	0.027	T
ALDH3A2	224	genome.wustl.edu	37	17	19559794	19559794	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:19559794C>T	ENST00000176643.6	+	4	1033	c.587C>T	c.(586-588)gCt>gTt	p.A196V	ALDH3A2_ENST00000581518.1_Missense_Mutation_p.A196V|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.A196V|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.A196V|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.A196V			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	196					cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					GTCATGGAAGCTGCTGCCAAG	0.463																																						dbGAP											0													112.0	103.0	106.0					17																	19559794		2203	4300	6503	-	-	-	SO:0001583	missense	0			L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.587C>T	17.37:g.19559794C>T	ENSP00000176643:p.Ala196Val		Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.A196V	ENST00000176643.6	37	c.587	CCDS11210.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.664862	0.96745	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	T;T;T	0.78126	-1.15;-1.15;-1.15	5.71	5.71	0.89125	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.047896	0.85682	D	0.000000	D	0.93301	0.7865	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.95488	0.8566	10	0.87932	D	0	-19.5925	18.8519	0.92235	0.0:1.0:0.0:0.0	.	196;196	P51648;P51648-2	AL3A2_HUMAN;.	V	196	ENSP00000176643:A196V;ENSP00000378942:A196V;ENSP00000345774:A196V	ENSP00000176643:A196V	A	+	2	0	ALDH3A2	19500386	1.000000	0.71417	0.997000	0.53966	0.957000	0.61999	7.733000	0.84916	2.705000	0.92388	0.467000	0.42956	GCT	ALDH3A2	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000072210		0.463	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	ALDH3A2	HGNC	protein_coding	OTTHUMT00000132268.1	50	0.00	0	C			19559794	19559794	+1	no_errors	ENST00000339618	ensembl	human	known	69_37n	missense	20	60.00	30	SNP	1.000	T
ALG5	29880	genome.wustl.edu	37	13	37569711	37569711	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:37569711G>A	ENST00000239891.3	-	2	155	c.89C>T	c.(88-90)aCt>aTt	p.T30I	ALG5_ENST00000413537.2_Missense_Mutation_p.T30I|ALG5_ENST00000443765.1_Missense_Mutation_p.T30I|ALG5_ENST00000496689.1_5'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	30					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TTTTGTAGCAGTTGTAAATGC	0.353																																						dbGAP											0													111.0	108.0	109.0					13																	37569711		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.89C>T	13.37:g.37569711G>A	ENSP00000239891:p.Thr30Ile		B4DR37|Q5TBA6	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.T30I	ENST00000239891.3	37	c.89	CCDS9361.1	13	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264383	0.39995	.	.	ENSG00000120697	ENST00000443765;ENST00000239891;ENST00000413537	D;T	0.83075	-1.68;-1.11	6.17	3.33	0.38152	.	0.134649	0.64402	D	0.000002	T	0.78438	0.4283	L	0.47716	1.5	0.49798	D	0.999829	B;B	0.20459	0.045;0.015	B;B	0.22152	0.038;0.027	T	0.71676	-0.4521	10	0.21540	T	0.41	.	17.1458	0.86766	0.0:0.3537:0.6463:0.0	.	30;30	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	I	30	ENSP00000239891:T30I;ENSP00000389647:T30I	ENSP00000239891:T30I	T	-	2	0	ALG5	36467711	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	3.857000	0.55972	0.870000	0.35726	0.655000	0.94253	ACT	ALG5	-	NULL	ENSG00000120697		0.353	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG5	HGNC	protein_coding	OTTHUMT00000044528.2	58	0.00	0	G	NM_013338		37569711	37569711	-1	no_errors	ENST00000239891	ensembl	human	known	69_37n	missense	75	11.76	10	SNP	1.000	A
ALK	238	genome.wustl.edu	37	2	30142888	30142888	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:30142888G>A	ENST00000389048.3	-	1	1544	c.638C>T	c.(637-639)cCc>cTc	p.P213L	ALK_ENST00000431873.1_Missense_Mutation_p.P213L	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	213					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GAGAAGGCGGGGCTGGGAGGC	0.572			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													dbGAP	yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													35.0	43.0	40.0					2																	30142888		2202	4298	6500	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.638C>T	2.37:g.30142888G>A	ENSP00000373700:p.Pro213Leu		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P213L	ENST00000389048.3	37	c.638	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542588	0.65198	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	D;T	0.90324	-2.65;1.73	5.23	5.23	0.72850	.	.	.	.	.	D	0.91036	0.7180	L	0.27053	0.805	0.58432	D	0.999993	D	0.76494	0.999	P	0.61874	0.895	D	0.89963	0.4088	8	.	.	.	.	17.7559	0.88449	0.0:0.0:1.0:0.0	.	213	Q9UM73	ALK_HUMAN	L	213	ENSP00000373700:P213L;ENSP00000414027:P213L	.	P	-	2	0	ALK	29996392	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	8.148000	0.89630	2.596000	0.87737	0.655000	0.94253	CCC	ALK	-	NULL	ENSG00000171094		0.572	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	30	0.00	0	G	NM_004304		30142888	30142888	-1	no_errors	ENST00000389048	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	1.000	A
ALMS1	7840	genome.wustl.edu	37	2	73679937	73679938	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:73679937_73679938delTA	ENST00000264448.6	+	8	6391_6392	c.6280_6281delTA	c.(6280-6282)tatfs	p.Y2094fs	ALMS1_ENST00000377715.1_Frame_Shift_Del_p.Y2094fs|ALMS1_ENST00000409009.1_Frame_Shift_Del_p.Y2052fs	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2094	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						CTCTAGTTCTTATTTTCACAGA	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_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.6280_6281delTA	2.37:g.73679937_73679938delTA	ENSP00000264448:p.Tyr2094fs		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Frame_Shift_Del	DEL	NULL	p.Y2094fs	ENST00000264448.6	37	c.6280_6281	CCDS42697.1	2																																																																																			ALMS1	-	NULL	ENSG00000116127		0.391	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	109	0.00	0	TA	NM_015120		73679937	73679938	+1	no_errors	ENST00000264448	ensembl	human	known	69_37n	frame_shift_del	90	11.54	12	DEL	0.218:0.046	-
AMBRA1	55626	genome.wustl.edu	37	11	46563794	46563794	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:46563794G>T	ENST00000458649.2	-	7	2191	c.1773C>A	c.(1771-1773)taC>taA	p.Y591*	AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Y591*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Y591*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Y591*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Y591*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Y501*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Y501*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	591					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CGCCAGAGGAGTAGTTAGGTG	0.587																																						dbGAP											0													74.0	62.0	66.0					11																	46563794		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1773C>A	11.37:g.46563794G>T	ENSP00000415327:p.Tyr591*		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y591*	ENST00000458649.2	37	c.1773		11	.	.	.	.	.	.	.	.	.	.	G	39	7.346747	0.98228	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	.	.	.	5.73	3.87	0.44632	.	0.053774	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.7057	0.34354	0.23:0.0:0.77:0.0	.	.	.	.	X	501;501;591;591;591;501;591;591	.	ENSP00000298834:Y591X	Y	-	3	2	AMBRA1	46520370	0.977000	0.34250	1.000000	0.80357	0.993000	0.82548	1.376000	0.34306	0.763000	0.33175	0.655000	0.94253	TAC	AMBRA1	-	NULL	ENSG00000110497		0.587	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	55	0.00	0	G	NM_017749		46563794	46563794	-1	no_errors	ENST00000458649	ensembl	human	known	69_37n	nonsense	77	10.47	9	SNP	0.999	T
ANGEL1	23357	genome.wustl.edu	37	14	77274282	77274282	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:77274282G>A	ENST00000251089.2	-	3	971	c.859C>T	c.(859-861)Cag>Tag	p.Q287*	ANGEL1_ENST00000554941.1_5'Flank	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	287										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCCCAGTGCTGGAATTCCTGC	0.517																																						dbGAP											0													93.0	79.0	84.0					14																	77274282		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF111169	CCDS9852.1	14q24.3	2014-06-17		2005-08-04	ENSG00000013523	ENSG00000013523			19961	protein-coding gene	gene with protein product				KIAA0759		11943475	Standard	NM_015305		Approved	Ccr4e	uc001xsv.3	Q9UNK9	OTTHUMG00000171494	ENST00000251089.2:c.859C>T	14.37:g.77274282G>A	ENSP00000251089:p.Gln287*		B4DWL7|O94859|Q8NCS9	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.Q287*	ENST00000251089.2	37	c.859	CCDS9852.1	14	.	.	.	.	.	.	.	.	.	.	G	38	6.922263	0.97936	.	.	ENSG00000013523	ENST00000251089	.	.	.	5.43	5.43	0.79202	.	0.059945	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-3.8063	14.8078	0.69971	0.0:0.1437:0.8563:0.0	.	.	.	.	X	287	.	ENSP00000251089:Q287X	Q	-	1	0	ANGEL1	76344035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.619000	0.61218	2.560000	0.86352	0.561000	0.74099	CAG	ANGEL1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000013523		0.517	ANGEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL1	HGNC	protein_coding	OTTHUMT00000413712.2	101	0.00	0	G	NM_015305		77274282	77274282	-1	no_errors	ENST00000251089	ensembl	human	known	69_37n	nonsense	79	26.17	28	SNP	1.000	A
ANGEL2	90806	genome.wustl.edu	37	1	213178657	213178657	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:213178657G>A	ENST00000366962.3	-	5	1006	c.852C>T	c.(850-852)gaC>gaT	p.D284D	ANGEL2_ENST00000544555.1_Silent_p.D115D|ANGEL2_ENST00000360506.2_Silent_p.D115D|ANGEL2_ENST00000540642.1_Silent_p.D158D|ANGEL2_ENST00000535388.1_Silent_p.D115D	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	284										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		ATCCAACATTGTCTCTGTCCA	0.433																																						dbGAP											0													94.0	94.0	94.0					1																	213178657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.852C>T	1.37:g.213178657G>A			B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.D284	ENST00000366962.3	37	c.852	CCDS1512.1	1																																																																																			ANGEL2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000174606		0.433	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGEL2	HGNC	protein_coding	OTTHUMT00000089693.1	172	0.00	0	G	NM_144567		213178657	213178657	-1	no_errors	ENST00000366962	ensembl	human	known	69_37n	silent	282	15.77	53	SNP	1.000	A
ANK1	286	genome.wustl.edu	37	8	41572499	41572499	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:41572499C>T	ENST00000347528.4	-	15	1779	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R	ANK1_ENST00000379758.2_Missense_Mutation_p.G566R|ANK1_ENST00000352337.4_Missense_Mutation_p.G566R|ANK1_ENST00000289734.7_Missense_Mutation_p.G566R|ANK1_ENST00000396942.1_Missense_Mutation_p.G566R|ANK1_ENST00000396945.1_Missense_Mutation_p.G566R|ANK1_ENST00000265709.8_Missense_Mutation_p.G599R	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	566	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCACTTTTCCGGCAGCATTC	0.587																																						dbGAP											0													70.0	69.0	69.0					8																	41572499		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1696G>A	8.37:g.41572499C>T	ENSP00000339620:p.Gly566Arg		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	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.G566R	ENST00000347528.4	37	c.1696	CCDS6119.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.124257	0.94429	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	T;T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35;2.35	5.76	5.76	0.90799	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.34019	0.0883	L	0.31476	0.935	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.994;1.0;1.0	D;D;P;D;D	0.97110	1.0;1.0;0.692;1.0;1.0	T	0.04693	-1.0933	10	0.87932	D	0	.	19.9641	0.97260	0.0:1.0:0.0:0.0	.	599;566;566;566;566	P16157-21;P16157-4;P16157;P16157-5;P16157-3	.;.;ANK1_HUMAN;.;.	R	566;566;566;566;566;566;599;566	ENSP00000339620:G566R;ENSP00000289734:G566R;ENSP00000369082:G566R;ENSP00000380149:G566R;ENSP00000380147:G566R;ENSP00000309131:G566R;ENSP00000265709:G599R	ENSP00000265709:G599R	G	-	1	0	ANK1	41691656	1.000000	0.71417	0.165000	0.22776	0.002000	0.02628	7.818000	0.86416	2.719000	0.93026	0.650000	0.86243	GGA	ANK1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000029534		0.587	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANK1	HGNC	protein_coding	OTTHUMT00000317297.1	52	0.00	0	C	NM_020475		41572499	41572499	-1	no_errors	ENST00000396942	ensembl	human	known	69_37n	missense	32	30.43	14	SNP	1.000	T
ANKH	56172	genome.wustl.edu	37	5	14769104	14769104	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:14769104G>A	ENST00000284268.6	-	2	623	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	98					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GTGAAAGACGGCAGCGATGGC	0.483																																						dbGAP											0													74.0	73.0	73.0					5																	14769104		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.293C>T	5.37:g.14769104G>A	ENSP00000284268:p.Ala98Val		B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	pfam_ANKH	p.A98V	ENST00000284268.6	37	c.293	CCDS3885.1	5	.	.	.	.	.	.	.	.	.	.	G	12.00	1.805306	0.31961	.	.	ENSG00000154122	ENST00000284268	D	0.94092	-3.35	5.5	5.5	0.81552	.	0.157513	0.56097	D	0.000021	D	0.88757	0.6523	L	0.27053	0.805	0.80722	D	1	B	0.21520	0.057	B	0.28385	0.089	D	0.84184	0.0441	10	0.08599	T	0.76	-51.4992	18.4196	0.90586	0.0:0.0:1.0:0.0	.	98	Q9HCJ1	ANKH_HUMAN	V	98	ENSP00000284268:A98V	ENSP00000284268:A98V	A	-	2	0	ANKH	14822104	1.000000	0.71417	0.363000	0.25875	0.171000	0.22731	7.295000	0.78780	2.588000	0.87417	0.650000	0.86243	GCC	ANKH	-	pfam_ANKH	ENSG00000154122		0.483	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKH	HGNC	protein_coding	OTTHUMT00000207063.1	108	0.00	0	G	NM_054027		14769104	14769104	-1	no_errors	ENST00000284268	ensembl	human	known	69_37n	missense	67	16.25	13	SNP	0.972	A
ANKRD12	23253	genome.wustl.edu	37	18	9258186	9258186	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr18:9258186G>A	ENST00000262126.4	+	9	5161	c.4921G>A	c.(4921-4923)Gtt>Att	p.V1641I	RP11-888D10.4_ENST00000609701.1_RNA|ANKRD12_ENST00000383440.2_Missense_Mutation_p.V1618I|ANKRD12_ENST00000400020.3_Missense_Mutation_p.V1618I	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1641						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGAGAGTTTGGTTTTAACTCA	0.368																																						dbGAP											0													57.0	54.0	55.0					18																	9258186		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.4921G>A	18.37:g.9258186G>A	ENSP00000262126:p.Val1641Ile		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	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.V1641I	ENST00000262126.4	37	c.4921	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	G	7.540	0.660507	0.14645	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.51817	0.69;0.69	5.29	-0.158	0.13383	.	0.551521	0.18117	N	0.151166	T	0.25457	0.0619	N	0.17082	0.46	0.24096	N	0.995891	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.11397	-1.0589	10	0.34782	T	0.22	-0.3539	5.9136	0.19041	0.3689:0.0:0.5134:0.1177	.	1618;1641	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	I	1618;1641	ENSP00000372932:V1618I;ENSP00000262126:V1641I	ENSP00000262126:V1641I	V	+	1	0	ANKRD12	9248186	0.939000	0.31865	0.994000	0.49952	0.922000	0.55478	0.565000	0.23578	-0.030000	0.13804	0.655000	0.94253	GTT	ANKRD12	-	NULL	ENSG00000101745		0.368	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	199	0.00	0	G	NM_015208		9258186	9258186	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	missense	153	12.07	21	SNP	0.949	A
ANKS6	203286	genome.wustl.edu	37	9	101530389	101530389	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:101530389C>T	ENST00000353234.4	-	11	2163	c.2116G>A	c.(2116-2118)Gca>Aca	p.A706T	ANKS6_ENST00000375018.1_Missense_Mutation_p.A706T|ANKS6_ENST00000540940.1_Missense_Mutation_p.A511T|ANKS6_ENST00000375019.2_Missense_Mutation_p.A405T			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	706	Ser-rich.					cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CTGCCACCTGCAGGGGAGGCT	0.587																																						dbGAP											0													29.0	36.0	34.0					9																	101530389		2151	4255	6406	-	-	-	SO:0001583	missense	0			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.2116G>A	9.37:g.101530389C>T	ENSP00000297837:p.Ala706Thr		A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	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,pfscan_SAM,prints_Ankyrin_rpt	p.A706T	ENST00000353234.4	37	c.2116	CCDS43856.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.03|14.03	2.414215|2.414215	0.42817|0.42817	.|.	.|.	ENSG00000165138|ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940|ENST00000444472	T;T;T;T|.	0.67171|.	1.94;-0.25;-0.24;2.16|.	5.58|5.58	2.2|2.2	0.27929|0.27929	.|.	0.565656|.	0.19722|.	N|.	0.107580|.	T|T	0.24736|0.24736	0.0600|0.0600	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	B;B|.	0.23937|.	0.006;0.094|.	B;B|.	0.24541|.	0.005;0.054|.	T|T	0.20907|0.20907	-1.0261|-1.0261	10|5	0.14656|.	T|.	0.56|.	-0.4597|-0.4597	6.0007|6.0007	0.19519|0.19519	0.0:0.6331:0.1689:0.1979|0.0:0.6331:0.1689:0.1979	.|.	706;706|.	Q68DC2-4;Q68DC2|.	.;ANKS6_HUMAN|.	T|Y	405;706;706;511|174	ENSP00000364159:A405T;ENSP00000364158:A706T;ENSP00000297837:A706T;ENSP00000442189:A511T|.	ENSP00000297837:A706T|.	A|C	-|-	1|2	0|0	ANKS6|ANKS6	100570210|100570210	0.000000|0.000000	0.05858|0.05858	0.050000|0.050000	0.19076|0.19076	0.559000|0.559000	0.35586|0.35586	0.218000|0.218000	0.17622|0.17622	0.693000|0.693000	0.31634|0.31634	0.561000|0.561000	0.74099|0.74099	GCA|TGC	ANKS6	-	NULL	ENSG00000165138		0.587	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	30	0.00	0	C	NM_173551		101530389	101530389	-1	no_errors	ENST00000375018	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	0.003	T
ANO2	57101	genome.wustl.edu	37	12	5685155	5685155	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:5685155G>A	ENST00000356134.5	-	25	2540	c.2469C>T	c.(2467-2469)gaC>gaT	p.D823D	ANO2_ENST00000327087.8_Silent_p.D822D|ANO2_ENST00000546188.1_Silent_p.D823D	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	827					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGGGGATAAAGTCGGAGGTGA	0.517																																						dbGAP											0													65.0	70.0	69.0					12																	5685155		1964	4159	6123	-	-	-	SO:0001819	synonymous_variant	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.2469C>T	12.37:g.5685155G>A			C4N787|Q9H847	Silent	SNP	pfam_Anoctamin	p.D823	ENST00000356134.5	37	c.2469		12																																																																																			ANO2	-	pfam_Anoctamin	ENSG00000047617		0.517	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	28	0.00	0	G	NM_020373		5685155	5685155	-1	no_errors	ENST00000356134	ensembl	human	known	69_37n	silent	18	28.00	7	SNP	1.000	A
ANPEP	290	genome.wustl.edu	37	15	90349716	90349716	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:90349716G>A	ENST00000300060.6	-	2	412	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	33	Cytosolic Ser/Thr-rich junction.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TCTCCTGGGAGTACACCACTG	0.632																																					NSCLC(30;827 977 2459 19669 26125)	dbGAP											0													97.0	102.0	100.0					15																	90349716		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.99C>T	15.37:g.90349716G>A			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.Y33	ENST00000300060.6	37	c.99	CCDS10356.1	15																																																																																			ANPEP	-	NULL	ENSG00000166825		0.632	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	51	0.00	0	G			90349716	90349716	-1	no_errors	ENST00000300060	ensembl	human	known	69_37n	silent	56	20.00	14	SNP	0.081	A
AOC2	314	genome.wustl.edu	37	17	40996919	40996919	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:40996919C>T	ENST00000253799.3	+	1	303	c.276C>T	c.(274-276)atC>atT	p.I92I	AOC2_ENST00000452774.2_Silent_p.I92I	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	92					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)		ACAACTGCATCTTCTCAGTGG	0.682																																						dbGAP											0													68.0	76.0	73.0					17																	40996919		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	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.276C>T	17.37:g.40996919C>T			A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Silent	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.I92	ENST00000253799.3	37	c.276	CCDS11443.1	17																																																																																			AOC2	-	pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	ENSG00000131480		0.682	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC2	HGNC	protein_coding	OTTHUMT00000452442.1	102	0.00	0	C	NM_009590, NM_001158		40996919	40996919	+1	no_errors	ENST00000253799	ensembl	human	known	69_37n	silent	46	11.54	6	SNP	0.996	T
AOX1	316	genome.wustl.edu	37	2	201462212	201462212	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:201462212G>C	ENST00000374700.2	+	4	534	c.293G>C	c.(292-294)aGa>aCa	p.R98T		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	98					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	ACCCACACCAGAATTCATCCT	0.493																																						dbGAP											0													144.0	123.0	130.0					2																	201462212		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.293G>C	2.37:g.201462212G>C	ENSP00000363832:p.Arg98Thr		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.R98T	ENST00000374700.2	37	c.293	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816701	0.70912	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	T;T	0.63096	-0.02;-0.02	5.29	5.29	0.74685	[2Fe-2S]-binding (3);	0.146522	0.64402	D	0.000011	T	0.66015	0.2747	L	0.45137	1.4	0.48511	D	0.999668	P	0.41947	0.766	P	0.52343	0.696	T	0.67341	-0.5695	10	0.66056	D	0.02	-51.3204	12.1081	0.53823	0.0789:0.0:0.9211:0.0	.	98	Q06278	ADO_HUMAN	T	98;73	ENSP00000363832:R98T;ENSP00000392485:R73T	ENSP00000363832:R98T	R	+	2	0	AOX1	201170457	1.000000	0.71417	0.899000	0.35326	0.991000	0.79684	4.534000	0.60622	2.739000	0.93911	0.655000	0.94253	AGA	AOX1	-	pfam_2Fe-2S-bd,superfamily_2Fe-2S-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.493	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	127	0.00	0	G	NM_001159		201462212	201462212	+1	no_errors	ENST00000374700	ensembl	human	known	69_37n	missense	74	14.94	13	SNP	0.989	C
AP4E1	23431	genome.wustl.edu	37	15	51204292	51204292	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:51204292C>T	ENST00000261842.5	+	2	274	c.168C>T	c.(166-168)atC>atT	p.I56I	AP4E1_ENST00000560508.1_5'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	56					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AAAAATTAATCCAGCAGGAAC	0.333																																						dbGAP											0													56.0	58.0	57.0					15																	51204292		2196	4294	6490	-	-	-	SO:0001819	synonymous_variant	0			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.168C>T	15.37:g.51204292C>T			A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	p.I56	ENST00000261842.5	37	c.168	CCDS32240.1	15																																																																																			AP4E1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP4_complex_esu	ENSG00000081014		0.333	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	AP4E1	HGNC	protein_coding	OTTHUMT00000418656.1	79	0.00	0	C			51204292	51204292	+1	no_errors	ENST00000261842	ensembl	human	known	69_37n	silent	89	15.24	16	SNP	1.000	T
APOA5	116519	genome.wustl.edu	37	11	116661512	116661512	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:116661512G>A	ENST00000227665.4	-	3	467	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	ZNF259_ENST00000227322.3_5'Flank|APOA5_ENST00000542499.1_Nonsense_Mutation_p.Q145*			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	145					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TGCAGCTCCTGCACGCGCAGG	0.652																																						dbGAP											0													64.0	61.0	62.0					11																	116661512		2201	4296	6497	-	-	-	SO:0001587	stop_gained	0			AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.433C>T	11.37:g.116661512G>A	ENSP00000227665:p.Gln145*		B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Nonsense_Mutation	SNP	pfam_ApoA1_A4_E	p.Q145*	ENST00000227665.4	37	c.433	CCDS8376.2	11	.	.	.	.	.	.	.	.	.	.	G	18.59	3.655809	0.67586	.	.	ENSG00000110243	ENST00000227665;ENST00000542499;ENST00000433069	.	.	.	4.98	3.06	0.35304	.	0.520018	0.17756	N	0.163045	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-6.4032	9.4174	0.38530	0.0:0.2948:0.553:0.1523	.	.	.	.	X	145	.	ENSP00000227665:Q145X	Q	-	1	0	APOA5	116166722	0.290000	0.24343	0.469000	0.27204	0.920000	0.55202	0.739000	0.26173	0.652000	0.30806	0.650000	0.86243	CAG	APOA5	-	pfam_ApoA1_A4_E	ENSG00000110243		0.652	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOA5	HGNC	protein_coding	OTTHUMT00000106285.2	32	0.00	0	G			116661512	116661512	-1	no_errors	ENST00000227665	ensembl	human	known	69_37n	nonsense	30	11.76	4	SNP	0.246	A
APLP2	334	genome.wustl.edu	37	11	130003617	130003617	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:130003617G>A	ENST00000263574.5	+	12	1750	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	APLP2_ENST00000338167.5_Missense_Mutation_p.E560K|APLP2_ENST00000528499.1_Missense_Mutation_p.E504K|APLP2_ENST00000278756.7_Missense_Mutation_p.E570K|APLP2_ENST00000345598.5_Missense_Mutation_p.E331K|APLP2_ENST00000543137.1_Missense_Mutation_p.E467K|APLP2_ENST00000539648.1_Missense_Mutation_p.E348K	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	560					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AATTCAAGAGGAAATTGGTGG	0.478																																						dbGAP											0													99.0	93.0	95.0					11																	130003617		2201	4297	6498	-	-	-	SO:0001583	missense	0			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1678G>A	11.37:g.130003617G>A	ENSP00000263574:p.Glu560Lys		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,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_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.E560K	ENST00000263574.5	37	c.1678	CCDS8486.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.228435	0.95173	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	4.87	4.87	0.63330	Amyloidogenic glycoprotein, E2 domain (1);	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.979;0.989;0.999;1.0;0.999	D;D;P;P;D;D;D	0.79784	0.99;0.992;0.835;0.862;0.992;0.99;0.993	T	0.72975	-0.4128	10	0.87932	D	0	-10.1469	17.02	0.86431	0.0:0.0:1.0:0.0	.	348;560;504;331;498;504;560	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	K	504;348;560;331;560;570;467	ENSP00000435914:E504K;ENSP00000443728:E348K;ENSP00000263574:E560K;ENSP00000263575:E331K;ENSP00000345444:E560K;ENSP00000278756:E570K;ENSP00000444122:E467K	ENSP00000263574:E560K	E	+	1	0	APLP2	129508827	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.416000	0.97383	2.252000	0.74401	0.563000	0.77884	GAA	APLP2	-	superfamily_Amyloid_glyco_E2_domain	ENSG00000084234		0.478	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	HGNC	protein_coding	OTTHUMT00000386109.1	73	0.00	0	G	NM_001642		130003617	130003617	+1	no_errors	ENST00000263574	ensembl	human	known	69_37n	missense	59	24.36	19	SNP	1.000	A
APOL1	8542	genome.wustl.edu	37	22	36661498	36661498	+	Missense_Mutation	SNP	G	G	A	rs375964420		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:36661498G>A	ENST00000397278.3	+	6	845	c.616G>A	c.(616-618)Gta>Ata	p.V206I	APOL1_ENST00000319136.4_Missense_Mutation_p.V222I|APOL1_ENST00000347595.7_Missense_Mutation_p.V85I|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000397279.4_Missense_Mutation_p.V206I|APOL1_ENST00000422706.1_Missense_Mutation_p.V206I|APOL1_ENST00000426053.1_Missense_Mutation_p.V188I	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	206					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)	p.V222L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AGGCAGCCTTGTACTCTTGGA	0.567																																						dbGAP											1	Substitution - Missense(1)	lung(1)											130.0	124.0	126.0					22																	36661498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.616G>A	22.37:g.36661498G>A	ENSP00000380448:p.Val206Ile		A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	pfam_ApoL	p.V222I	ENST00000397278.3	37	c.664	CCDS13926.1	22	.	.	.	.	.	.	.	.	.	.	g	11.53	1.665645	0.29604	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000347595;ENST00000397279	T;T;T;T;T;T	0.03524	3.9;3.9;3.9;3.9;3.9;3.9	3.42	2.37	0.29283	.	1.238070	0.05346	N	0.530948	T	0.04452	0.0122	L	0.34521	1.04	0.09310	N	1	B;B;B	0.25441	0.126;0.126;0.103	B;B;B	0.28916	0.096;0.096;0.085	T	0.48980	-0.8986	10	0.21014	T	0.42	.	8.5597	0.33503	0.0:0.2367:0.7633:0.0	.	188;206;222	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	I	206;206;188;222;85;206	ENSP00000380448:V206I;ENSP00000411507:V206I;ENSP00000388477:V188I;ENSP00000317674:V222I;ENSP00000216178:V85I;ENSP00000380449:V206I	ENSP00000317674:V222I	V	+	1	0	APOL1	34991444	0.001000	0.12720	0.005000	0.12908	0.003000	0.03518	0.222000	0.17699	0.587000	0.29643	0.205000	0.17691	GTA	APOL1	-	pfam_ApoL	ENSG00000100342		0.567	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOL1	HGNC	protein_coding	OTTHUMT00000319100.4	172	0.00	0	G	NM_145343		36661498	36661498	+1	no_errors	ENST00000319136	ensembl	human	known	69_37n	missense	133	14.19	22	SNP	0.003	A
APOPT1	84334	genome.wustl.edu	37	14	104056644	104056644	+	3'UTR	SNP	A	A	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:104056644A>T	ENST00000409074.2	+	0	643				APOPT1_ENST00000477116.1_3'UTR|RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000556253.2_3'UTR|APOPT1_ENST00000247618.4_3'UTR	NM_032374.3	NP_115750.2	Q96IL0	APOP1_HUMAN	apoptogenic 1, mitochondrial						intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)	mitochondrion (GO:0005739)											TGACCCAGCCAGAGTCCAGGT	0.502																																						dbGAP											0													52.0	54.0	53.0					14																	104056644		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC007412	CCDS9983.2	14q32.33	2012-06-28	2012-06-28	2011-09-07	ENSG00000256053	ENSG00000256053			20492	protein-coding gene	gene with protein product	"""apoptogenic protein 1"""		"""chromosome 14 open reading frame 153"", ""apoptogenic 1"""	C14orf153		16782708, 18977203	Standard	NM_032374		Approved	MGC2562, APOP-1		Q96IL0	OTTHUMG00000153929	ENST00000409074.2:c.*21A>T	14.37:g.104056644A>T			Q53G28	RNA	SNP	-	NULL	ENST00000409074.2	37	NULL	CCDS9983.2	14																																																																																			APOPT1	-	-	ENSG00000256053		0.502	APOPT1-001	KNOWN	basic|CCDS	protein_coding	APOPT1	HGNC	protein_coding	OTTHUMT00000333060.2	75	0.00	0	A	NM_032374		104056644	104056644	+1	no_errors	ENST00000473127	ensembl	human	known	69_37n	rna	63	17.11	13	SNP	0.000	T
ARHGAP21	57584	genome.wustl.edu	37	10	24889775	24889775	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:24889775C>T	ENST00000396432.2	-	14	3418	c.2932G>A	c.(2932-2934)Gag>Aag	p.E978K	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E765K|ARHGAP21_ENST00000493154.1_Intron	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	977	Interaction with ARF1 and ARF6.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						GTCGTCTGCTCTCTTTTATCT	0.448																																						dbGAP											0													77.0	79.0	78.0					10																	24889775		2203	4298	6501	-	-	-	SO:0001583	missense	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.2932G>A	10.37:g.24889775C>T	ENSP00000379709:p.Glu978Lys		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	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.E978K	ENST00000396432.2	37	c.2932	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	35	5.541526	0.96474	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.67	5.67	0.87782	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.095726	0.64402	D	0.000001	D	0.86916	0.6048	L	0.45137	1.4	0.58432	D	0.999995	P;D	0.67145	0.795;0.996	P;D	0.73380	0.567;0.98	D	0.86972	0.2098	10	0.59425	D	0.04	.	19.7612	0.96319	0.0:1.0:0.0:0.0	.	968;977	F8W9U9;Q5T5U3	.;RHG21_HUMAN	K	978;765;968;978;813	ENSP00000379709:E978K;ENSP00000365604:E765K;ENSP00000365592:E968K;ENSP00000405018:E978K	ENSP00000365604:E765K	E	-	1	0	ARHGAP21	24929781	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.764000	0.85297	2.679000	0.91253	0.655000	0.94253	GAG	ARHGAP21	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000107863		0.448	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	154	0.00	0	C	NM_020824		24889775	24889775	-1	no_errors	ENST00000396432	ensembl	human	known	69_37n	missense	190	38.71	120	SNP	1.000	T
ARHGEF28	64283	genome.wustl.edu	37	5	73136530	73136530	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:73136530C>T	ENST00000426542.2	+	10	1392	c.1372C>T	c.(1372-1374)Ctt>Ttt	p.L458F	ARHGEF28_ENST00000296799.4_Missense_Mutation_p.L145F|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.L458F|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.L458F|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.L458F|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.L458F|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.L458F|ARHGEF28_ENST00000513841.1_3'UTR			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	458					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										CAACTTGAATCTTTCTTTTGG	0.408																																						dbGAP											0													77.0	71.0	73.0					5																	73136530		1913	4128	6041	-	-	-	SO:0001583	missense	0				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1372C>T	5.37:g.73136530C>T	ENSP00000412175:p.Leu458Phe		B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,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.L458F	ENST00000426542.2	37	c.1372	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709729	0.89018	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.12879	2.89;2.88;2.88;2.64;2.88;2.88;2.68	6.07	6.07	0.98685	.	.	.	.	.	T	0.33000	0.0848	M	0.64997	1.995	0.30801	N	0.73982	B;D;D;D;D	0.76494	0.325;0.993;0.993;0.999;0.996	B;P;P;D;P	0.67548	0.089;0.823;0.823;0.952;0.859	T	0.07539	-1.0767	9	0.22706	T	0.39	.	16.144	0.81551	0.0:1.0:0.0:0.0	.	145;458;458;458;458	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	.;RGNEF_HUMAN;.;.;.	F	458;458;458;458;458;458;145	ENSP00000296794:L458F;ENSP00000441913:L458F;ENSP00000441436:L458F;ENSP00000287898:L458F;ENSP00000411459:L458F;ENSP00000412175:L458F;ENSP00000296799:L145F	ENSP00000287898:L458F	L	+	1	0	RP11-428C6.1	73172286	0.940000	0.31905	0.971000	0.41717	0.960000	0.62799	1.779000	0.38624	2.884000	0.98904	0.655000	0.94253	CTT	ARHGEF28	-	NULL	ENSG00000214944		0.408	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	97	0.00	0	C			73136530	73136530	+1	no_errors	ENST00000545377	ensembl	human	known	69_37n	missense	82	12.77	12	SNP	0.985	T
ARID1A	8289	genome.wustl.edu	37	1	27101250	27101250	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:27101250G>A	ENST00000324856.7	+	18	4903	c.4532G>A	c.(4531-4533)aGg>aAg	p.R1511K	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Missense_Mutation_p.R1128K|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1511					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)		TATGCCAACAGGCAGAGCACG	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													65.0	70.0	69.0					1																	27101250		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.4532G>A	1.37:g.27101250G>A	ENSP00000320485:p.Arg1511Lys		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.R1511K	ENST00000324856.7	37	c.4532	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171555	0.78452	.	.	ENSG00000117713	ENST00000324856;ENST00000374152	T;T	0.06933	3.39;3.24	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.26412	0.0645	M	0.61703	1.905	0.80722	D	1	D;D;D	0.61697	0.99;0.983;0.982	P;P;D	0.67548	0.848;0.829;0.952	T	0.00115	-1.2039	10	0.27785	T	0.31	-13.6832	19.6787	0.95950	0.0:0.0:1.0:0.0	.	1128;1511;1164	O14497-3;O14497;Q4LE49	.;ARI1A_HUMAN;.	K	1511;1128	ENSP00000320485:R1511K;ENSP00000363267:R1128K	ENSP00000320485:R1511K	R	+	2	0	ARID1A	26973837	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.144000	0.94629	2.890000	0.99128	0.650000	0.86243	AGG	ARID1A	-	NULL	ENSG00000117713		0.582	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	102	0.00	0	G	NM_139135		27101250	27101250	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	missense	69	29.29	29	SNP	1.000	A
ARID3B	10620	genome.wustl.edu	37	15	74883593	74883593	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:74883593G>A	ENST00000346246.5	+	6	1214	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	328	Interaction with RB1.					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)|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)	p.R328Q(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GAGGGCCGGCGGCCCAGCTAC	0.617																																						dbGAP											1	Substitution - Missense(1)	lung(1)											71.0	85.0	80.0					15																	74883593		2196	4296	6492	-	-	-	SO:0001583	missense	0				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.983G>A	15.37:g.74883593G>A	ENSP00000343126:p.Arg328Gln		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.R328Q	ENST00000346246.5	37	c.983	CCDS10264.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.249345	0.95305	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.54675	0.56	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.73497	0.3594	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.992;0.962;0.997	T	0.75717	-0.3220	10	0.54805	T	0.06	-21.6515	18.5888	0.91200	0.0:0.0:1.0:0.0	.	328;328;328	B4DXL8;Q8IVW6;Q8IVW6-4	.;ARI3B_HUMAN;.	Q	328	ENSP00000343126:R328Q	ENSP00000343126:R328Q	R	+	2	0	ARID3B	72670646	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.357000	0.97099	2.403000	0.81681	0.561000	0.74099	CGG	ARID3B	-	NULL	ENSG00000179361		0.617	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	HGNC	protein_coding	OTTHUMT00000280688.2	125	0.00	0	G	NM_006465		74883593	74883593	+1	no_errors	ENST00000346246	ensembl	human	known	69_37n	missense	89	10.10	10	SNP	1.000	A
ARID5B	84159	genome.wustl.edu	37	10	63852065	63852065	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:63852065G>A	ENST00000279873.7	+	10	3253	c.2843G>A	c.(2842-2844)cGa>cAa	p.R948Q	ARID5B_ENST00000309334.5_Missense_Mutation_p.R705Q	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	948					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)					AGCCAGAGTCGAGACTGTCAC	0.552																																						dbGAP											0													121.0	123.0	122.0					10																	63852065		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.2843G>A	10.37:g.63852065G>A	ENSP00000279873:p.Arg948Gln		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.R948Q	ENST00000279873.7	37	c.2843	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928015	0.52759	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.44881	0.91;0.91	5.57	5.57	0.84162	.	0.298284	0.31709	N	0.007184	T	0.42675	0.1213	L	0.54323	1.7	0.32688	N	0.514611	D	0.61697	0.99	P	0.45119	0.47	T	0.59558	-0.7432	10	0.54805	T	0.06	-8.1525	12.9523	0.58407	0.0:0.0:0.7336:0.2664	.	948	Q14865	ARI5B_HUMAN	Q	948;705	ENSP00000279873:R948Q;ENSP00000308862:R705Q	ENSP00000279873:R948Q	R	+	2	0	ARID5B	63522071	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.020000	0.57189	2.779000	0.95612	0.655000	0.94253	CGA	ARID5B	-	NULL	ENSG00000150347		0.552	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	177	0.00	0	G	XM_084482		63852065	63852065	+1	no_errors	ENST00000279873	ensembl	human	known	69_37n	missense	211	12.45	30	SNP	1.000	A
ARID5B	84159	genome.wustl.edu	37	10	63852686	63852686	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:63852686G>A	ENST00000279873.7	+	10	3874	c.3464G>A	c.(3463-3465)gGg>gAg	p.G1155E	ARID5B_ENST00000309334.5_Missense_Mutation_p.G912E	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1155					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)					AGTTCATATGGGGACCTTTTG	0.468																																						dbGAP											0													132.0	135.0	134.0					10																	63852686		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.3464G>A	10.37:g.63852686G>A	ENSP00000279873:p.Gly1155Glu		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.G1155E	ENST00000279873.7	37	c.3464	CCDS31208.1	10	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417385	0.62622	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.57436	0.45;0.4	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.55657	0.1934	M	0.67953	2.075	0.80722	D	1	P	0.37663	0.604	B	0.35510	0.204	T	0.61613	-0.7027	10	0.87932	D	0	-17.1979	19.8646	0.96799	0.0:0.0:1.0:0.0	.	1155	Q14865	ARI5B_HUMAN	E	1155;912	ENSP00000279873:G1155E;ENSP00000308862:G912E	ENSP00000279873:G1155E	G	+	2	0	ARID5B	63522692	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	7.639000	0.83342	2.702000	0.92279	0.655000	0.94253	GGG	ARID5B	-	NULL	ENSG00000150347		0.468	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID5B	HGNC	protein_coding	OTTHUMT00000048233.1	208	0.00	0	G	XM_084482		63852686	63852686	+1	no_errors	ENST00000279873	ensembl	human	known	69_37n	missense	255	10.21	29	SNP	1.000	A
ARL1	400	genome.wustl.edu	37	12	101801431	101801431	+	5'UTR	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:101801431C>T	ENST00000261636.8	-	0	167				ARL1_ENST00000551671.1_5'UTR|ARL1_ENST00000539055.1_5'UTR|ARL1_ENST00000536227.1_5'Flank|ARL1_ENST00000549302.1_5'UTR|RP11-321F8.4_ENST00000547360.1_lincRNA|ARL1_ENST00000551688.1_5'UTR|ARL1_ENST00000551828.1_5'Flank	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1						activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		CATGATGAACCCCCTGTCCTC	0.672																																						dbGAP											0													156.0	168.0	164.0					12																	101801431		1942	4136	6078	-	-	-	SO:0001623	5_prime_UTR_variant	0			BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.-8G>A	12.37:g.101801431C>T			B4DWW1|P80417|Q53XB1	RNA	SNP	-	NULL	ENST00000261636.8	37	NULL	CCDS44958.1	12																																																																																			ARL1	-	-	ENSG00000120805		0.672	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL1	HGNC	protein_coding	OTTHUMT00000408246.1	184	0.00	0	C	NM_001177		101801431	101801431	-1	no_errors	ENST00000549283	ensembl	human	known	69_37n	rna	217	31.23	99	SNP	0.000	T
ARMC2	84071	genome.wustl.edu	37	6	109197385	109197385	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:109197385G>A	ENST00000392644.4	+	5	671	c.503G>A	c.(502-504)gGg>gAg	p.G168E	ARMC2_ENST00000368972.3_Missense_Mutation_p.G3E	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	168										endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		GTTATGATGGGGGACTCTATG	0.343																																						dbGAP											0													45.0	48.0	47.0					6																	109197385		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030603	CCDS5069.2, CCDS69168.1	6q21	2013-02-14			ENSG00000118690	ENSG00000118690		"""Armadillo repeat containing"""	23045	protein-coding gene	gene with protein product							Standard	XM_005267154		Approved	DKFZp434P0714, bA787I22.1	uc003pss.4	Q8NEN0	OTTHUMG00000015335	ENST00000392644.4:c.503G>A	6.37:g.109197385G>A	ENSP00000376417:p.Gly168Glu		A8K8Y4|B4DGF5|G5E993|Q5VVY8|Q9H0K9	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.G168E	ENST00000392644.4	37	c.503	CCDS5069.2	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.336|6.336	0.430138|0.430138	0.12045|0.12045	.|.	.|.	ENSG00000118690|ENSG00000118690	ENST00000368972;ENST00000392644;ENST00000237512|ENST00000414610	T;T;T|T	0.46451|0.45668	0.87;0.87;0.87|0.89	5.01|5.01	4.14|4.14	0.48551|0.48551	.|.	0.335919|0.335919	0.29668|0.29668	N|N	0.011505|0.011505	T|T	0.36580|0.36580	0.0972|0.0972	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.31227|.	0.314|.	B|.	0.29077|.	0.098|.	T|T	0.19811|0.19811	-1.0294|-1.0294	10|8	0.34782|0.46703	T|T	0.22|0.11	.|.	13.1048|13.1048	0.59241|0.59241	0.0:0.1615:0.8385:0.0|0.0:0.1615:0.8385:0.0	.|.	168|.	Q8NEN0|.	ARMC2_HUMAN|.	E|R	3;168;168|20	ENSP00000357968:G3E;ENSP00000376417:G168E;ENSP00000237512:G168E|ENSP00000393191:G20R	ENSP00000237512:G168E|ENSP00000393191:G20R	G|G	+|+	2|1	0|0	ARMC2|ARMC2	109304078|109304078	0.996000|0.996000	0.38824|0.38824	0.027000|0.027000	0.17364|0.17364	0.172000|0.172000	0.22775|0.22775	2.302000|2.302000	0.43637|0.43637	1.244000|1.244000	0.43870|0.43870	-0.802000|-0.802000	0.03209|0.03209	GGG|GGG	ARMC2	-	NULL	ENSG00000118690		0.343	ARMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC2	HGNC	protein_coding	OTTHUMT00000041732.2	149	0.00	0	G	NM_032131		109197385	109197385	+1	no_errors	ENST00000392644	ensembl	human	known	69_37n	missense	112	40.11	75	SNP	0.155	A
ARPC5L	81873	genome.wustl.edu	37	9	127637407	127637407	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:127637407G>A	ENST00000353214.2	+	5	1628	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.V126M			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	126					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)				large_intestine(2)|lung(1)	3						TAGCAGCGCAGTGTTACTCCA	0.517																																						dbGAP											0													83.0	84.0	83.0					9																	127637407		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"""Actin related protein 2/3 complex subunits"""	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.376G>A	9.37:g.127637407G>A	ENSP00000345361:p.Val126Met		Q7Z523	Missense_Mutation	SNP	pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc	p.V126M	ENST00000353214.2	37	c.376	CCDS6859.1	9	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774762	0.31411	.	.	ENSG00000136950	ENST00000353214;ENST00000259477	.	.	.	5.44	3.59	0.41128	.	0.208228	0.36234	N	0.002714	T	0.48677	0.1513	M	0.75150	2.29	0.31690	N	0.641955	B;B	0.29612	0.013;0.251	B;B	0.30251	0.024;0.113	T	0.58393	-0.7644	9	0.87932	D	0	-15.3886	4.7895	0.13241	0.2455:0.1651:0.5894:0.0	.	126;126	B3KPC7;Q9BPX5	.;ARP5L_HUMAN	M	126	.	ENSP00000259477:V126M	V	+	1	0	ARPC5L	126677228	0.986000	0.35501	0.993000	0.49108	0.499000	0.33736	2.048000	0.41278	0.773000	0.33404	0.563000	0.77884	GTG	ARPC5L	-	pfam_ARP2/3_p16_Arc,superfamily_ARP2/3_p16_Arc	ENSG00000136950		0.517	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	ARPC5L	HGNC	protein_coding	OTTHUMT00000054041.1	43	0.00	0	G	NM_030978		127637407	127637407	+1	no_errors	ENST00000259477	ensembl	human	known	69_37n	missense	47	27.69	18	SNP	0.998	A
ARRDC5	645432	genome.wustl.edu	37	19	4902706	4902706	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:4902706G>A	ENST00000381781.2	-	1	173	c.174C>T	c.(172-174)ctC>ctT	p.L58L	UHRF1_ENST00000592666.1_RNA	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	58								p.L58L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CCCTTCCCACGAGCTCCACCT	0.512																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											157.0	144.0	148.0					19																	4902706		1901	4117	6018	-	-	-	SO:0001819	synonymous_variant	0				CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.174C>T	19.37:g.4902706G>A				Silent	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.L58	ENST00000381781.2	37	c.174	CCDS45929.1	19																																																																																			ARRDC5	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000205784		0.512	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ARRDC5	HGNC	protein_coding	OTTHUMT00000450443.1	140	0.70	1	G	XM_292803		4902706	4902706	-1	no_errors	ENST00000381781	ensembl	human	known	69_37n	silent	119	15.00	21	SNP	0.784	A
ASB18	401036	genome.wustl.edu	37	2	237172897	237172897	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:237172897C>T	ENST00000409749.3	-	1	91	c.92G>A	c.(91-93)aGa>aAa	p.R31K	AC079135.1_ENST00000415226.1_RNA	NM_212556.2	NP_997721.2	Q6ZVZ8	ASB18_HUMAN	ankyrin repeat and SOCS box containing 18	31					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		ATCCCTCACTCTCTCCTCATC	0.502																																						dbGAP											0													132.0	127.0	128.0					2																	237172897		2022	4199	6221	-	-	-	SO:0001583	missense	0			AK123854	CCDS46548.1	2q37.2	2013-01-10	2011-01-25		ENSG00000182177	ENSG00000182177		"""Ankyrin repeat domain containing"""	19770	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 18"""			12076535	Standard	NM_212556		Approved		uc010znh.2	Q6ZVZ8	OTTHUMG00000153086	ENST00000409749.3:c.92G>A	2.37:g.237172897C>T	ENSP00000386532:p.Arg31Lys		B6ZDL7	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	p.R31K	ENST00000409749.3	37	c.92	CCDS46548.1	2	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286808	0.40494	.	.	ENSG00000182177	ENST00000409749;ENST00000430053	T;T	0.44482	1.25;0.92	5.14	-1.99	0.07457	.	.	.	.	.	T	0.34948	0.0915	L	0.43152	1.355	0.09310	N	1	B	0.27791	0.189	B	0.22386	0.039	T	0.16778	-1.0391	9	0.30078	T	0.28	.	17.7978	0.88578	0.0:0.1316:0.7897:0.0787	.	31	Q6ZVZ8	ASB18_HUMAN	K	31	ENSP00000386532:R31K;ENSP00000410021:R31K	ENSP00000386532:R31K	R	-	2	0	ASB18	236837636	0.000000	0.05858	0.000000	0.03702	0.800000	0.45204	-0.200000	0.09478	-0.345000	0.08325	0.591000	0.81541	AGA	ASB18	-	NULL	ENSG00000182177		0.502	ASB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB18	HGNC	protein_coding	OTTHUMT00000329436.1	77	0.00	0	C	NM_212556		237172897	237172897	-1	no_errors	ENST00000409749	ensembl	human	known	69_37n	missense	58	14.71	10	SNP	0.000	T
ASCC2	84164	genome.wustl.edu	37	22	30221109	30221109	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:30221109G>A	ENST00000397771.2	-	5	555	c.378C>T	c.(376-378)acC>acT	p.T126T	ASCC2_ENST00000307790.3_Silent_p.T126T|ASCC2_ENST00000542393.1_Silent_p.T73T			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	126					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)			TGCGGAGGAAGGTGAGAAAAA	0.572																																						dbGAP											0													157.0	148.0	151.0					22																	30221109		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.378C>T	22.37:g.30221109G>A			B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Silent	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.T126	ENST00000397771.2	37	c.378	CCDS13869.1	22																																																																																			ASCC2	-	NULL	ENSG00000100325		0.572	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	114	0.00	0	G	NM_032204		30221109	30221109	-1	no_errors	ENST00000307790	ensembl	human	known	69_37n	silent	155	19.27	37	SNP	1.000	A
ASXL1	171023	genome.wustl.edu	37	20	31023562	31023562	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:31023562C>T	ENST00000375687.4	+	13	3471	c.3047C>T	c.(3046-3048)gCt>gTt	p.A1016V	ASXL1_ENST00000306058.5_Missense_Mutation_p.A1011V	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1016					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGCAGTGAGGCTGACACTAGA	0.522			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													139.0	120.0	126.0					20																	31023562		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3047C>T	20.37:g.31023562C>T	ENSP00000364839:p.Ala1016Val		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.A1016V	ENST00000375687.4	37	c.3047	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	3.442	-0.113795	0.06881	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.23754	1.89;1.89	4.76	1.67	0.24075	.	0.967190	0.08585	N	0.923940	T	0.12732	0.0309	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.08055	0.002;0.003	T	0.36601	-0.9741	10	0.19590	T	0.45	-2.8815	3.8151	0.08812	0.0:0.5005:0.1842:0.3153	.	1011;1016	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	V	1016;1016;1016;937;1011	ENSP00000364839:A1016V;ENSP00000305119:A1011V	ENSP00000305119:A1011V	A	+	2	0	ASXL1	30487223	0.947000	0.32204	0.099000	0.21106	0.343000	0.28985	1.424000	0.34848	0.285000	0.22329	-0.479000	0.04858	GCT	ASXL1	-	NULL	ENSG00000171456		0.522	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	79	0.00	0	C	NM_015338		31023562	31023562	+1	no_errors	ENST00000375687	ensembl	human	known	69_37n	missense	61	35.79	34	SNP	0.020	T
ASXL1	171023	genome.wustl.edu	37	20	31024072	31024072	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:31024072C>T	ENST00000375687.4	+	13	3981	c.3557C>T	c.(3556-3558)aCt>aTt	p.T1186I	ASXL1_ENST00000306058.5_Missense_Mutation_p.T1181I	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1186					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAAACAGGCACTGGTCTTGCC	0.522			"""F, N, Mis"""		"""MDS, CMML"""																																	dbGAP		Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													62.0	64.0	63.0					20																	31024072		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3557C>T	20.37:g.31024072C>T	ENSP00000364839:p.Thr1186Ile		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.T1186I	ENST00000375687.4	37	c.3557	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855281	0.32791	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.14893	2.48;2.47	4.33	3.37	0.38596	.	0.922577	0.09442	N	0.801615	T	0.14960	0.0361	L	0.29908	0.895	0.09310	N	1	B;B	0.29432	0.244;0.026	B;B	0.26517	0.07;0.039	T	0.21177	-1.0253	10	0.56958	D	0.05	2.0976	12.7937	0.57549	0.1641:0.8358:0.0:0.0	.	1181;1186	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	I	1186;1186;1186;1107;1181	ENSP00000364839:T1186I;ENSP00000305119:T1181I	ENSP00000305119:T1181I	T	+	2	0	ASXL1	30487733	0.001000	0.12720	0.002000	0.10522	0.009000	0.06853	1.025000	0.30090	1.388000	0.46506	0.561000	0.74099	ACT	ASXL1	-	NULL	ENSG00000171456		0.522	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	64	0.00	0	C	NM_015338		31024072	31024072	+1	no_errors	ENST00000375687	ensembl	human	known	69_37n	missense	58	27.16	22	SNP	0.004	T
ATF4P4	100127952	genome.wustl.edu	37	11	113660116	113660116	+	RNA	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:113660116G>A	ENST00000393544.2	+	0	164									activating transcription factor 4 pseudogene 4																		TCAGCAAGGCGGTGACGGAAA	0.592																																						dbGAP											0																																										-	-	-			0					11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113660116G>A				RNA	SNP	-	NULL	ENST00000393544.2	37	NULL		11																																																																																			ATF4P4	-	-	ENSG00000256167		0.592	ATF4P4-002	KNOWN	basic	processed_transcript	ATF4P4	HGNC	pseudogene	OTTHUMT00000398707.1	50	0.00	0	G	NG_021835		113660116	113660116	+1	no_errors	ENST00000393544	ensembl	human	known	69_37n	rna	51	32.05	25	SNP	0.997	A
ATN1	1822	genome.wustl.edu	37	12	7050546	7050546	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:7050546A>G	ENST00000356654.4	+	9	3605	c.3368A>G	c.(3367-3369)tAc>tGc	p.Y1123C	C12orf57_ENST00000544681.1_5'Flank|C12orf57_ENST00000229281.5_5'Flank|RNU7-1_ENST00000458811.1_RNA|C12orf57_ENST00000540506.2_5'Flank|U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000537087.1_5'Flank|ATN1_ENST00000396684.2_Missense_Mutation_p.Y1123C	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1123					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCTGCCCCTTACCGGGACCTG	0.597																																						dbGAP											0													63.0	63.0	63.0					12																	7050546		2200	4284	6484	-	-	-	SO:0001583	missense	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3368A>G	12.37:g.7050546A>G	ENSP00000349076:p.Tyr1123Cys		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.Y1123C	ENST00000356654.4	37	c.3368	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	A	16.20	3.056274	0.55325	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325;ENST00000229279	T;T;T	0.58797	0.31;0.31;0.31	4.32	1.83	0.25207	.	0.000000	0.31167	U	0.008121	T	0.67287	0.2877	L	0.60455	1.87	0.44030	D	0.996752	D	0.89917	1.0	D	0.85130	0.997	T	0.65265	-0.6210	10	0.87932	D	0	.	7.5226	0.27637	0.7108:0.148:0.0:0.1412	.	1123	P54259	ATN1_HUMAN	C	1123;1123;1123;708	ENSP00000349076:Y1123C;ENSP00000379915:Y1123C;ENSP00000441744:Y1123C	ENSP00000229279:Y708C	Y	+	2	0	ATN1	6920807	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	2.866000	0.48420	0.269000	0.21961	0.533000	0.62120	TAC	ATN1	-	pfam_Atrophin-like,prints_Atrophin-1	ENSG00000111676		0.597	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	53	0.00	0	A	NM_001940		7050546	7050546	+1	no_errors	ENST00000356654	ensembl	human	known	69_37n	missense	29	32.56	14	SNP	1.000	G
ATN1	1822	genome.wustl.edu	37	12	7050913	7050913	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:7050913C>T	ENST00000356654.4	+	10	3780	c.3543C>T	c.(3541-3543)caC>caT	p.H1181H	C12orf57_ENST00000544681.1_5'Flank|C12orf57_ENST00000229281.5_5'Flank|RNU7-1_ENST00000458811.1_RNA|C12orf57_ENST00000540506.2_5'Flank|U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000537087.1_5'Flank|ATN1_ENST00000396684.2_Silent_p.H1181H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1181					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TCCCTAGTCACCTGAAGAAGG	0.577																																						dbGAP											0													166.0	135.0	145.0					12																	7050913		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.3543C>T	12.37:g.7050913C>T			Q99495|Q99621|Q9UEK7	Silent	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.H1181	ENST00000356654.4	37	c.3543	CCDS31734.1	12																																																																																			ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.577	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	78	0.00	0	C	NM_001940		7050913	7050913	+1	no_errors	ENST00000356654	ensembl	human	known	69_37n	silent	47	35.62	26	SNP	1.000	T
ATOH1	474	genome.wustl.edu	37	4	94750082	94750082	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:94750082C>T	ENST00000306011.3	+	1	41	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	2					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AGTGCAATGTCCCGCCTGCTG	0.622																																						dbGAP											0													24.0	26.0	26.0					4																	94750082		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.5C>T	4.37:g.94750082C>T	ENSP00000302216:p.Ser2Phe		Q14CT9	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S2F	ENST00000306011.3	37	c.5	CCDS3638.1	4	.	.	.	.	.	.	.	.	.	.	C	19.21	3.783541	0.70222	.	.	ENSG00000172238	ENST00000306011	D	0.98313	-4.86	4.15	4.15	0.48705	.	0.510340	0.17834	N	0.160423	D	0.96340	0.8806	N	0.19112	0.55	0.32091	N	0.591882	D	0.61080	0.989	P	0.53912	0.737	D	0.95569	0.8636	10	0.87932	D	0	-13.203	9.5451	0.39275	0.2099:0.7901:0.0:0.0	.	2	Q92858	ATOH1_HUMAN	F	2	ENSP00000302216:S2F	ENSP00000302216:S2F	S	+	2	0	ATOH1	94969105	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	1.588000	0.36633	2.295000	0.77249	0.579000	0.79373	TCC	ATOH1	-	NULL	ENSG00000172238		0.622	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH1	HGNC	protein_coding	OTTHUMT00000253585.1	22	0.00	0	C	NM_005172		94750082	94750082	+1	no_errors	ENST00000306011	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	1.000	T
ATP13A2	23400	genome.wustl.edu	37	1	17314651	17314651	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:17314651G>A	ENST00000326735.8	-	25	2874	c.2841C>T	c.(2839-2841)tcC>tcT	p.S947S	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Silent_p.S942S|ATP13A2_ENST00000341676.5_Silent_p.S903S			Q9NQ11	AT132_HUMAN	ATPase type 13A2	947					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGATCAGGACGGAGATGAACT	0.602																																						dbGAP											0													138.0	121.0	127.0					1																	17314651		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.2841C>T	1.37:g.17314651G>A			O75700|Q5JXY1|Q5JXY2|Q6S9Z9	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_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.S947	ENST00000326735.8	37	c.2841	CCDS175.1	1																																																																																			ATP13A2	-	tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000159363		0.602	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	40	0.00	0	G	NM_022089		17314651	17314651	-1	no_errors	ENST00000326735	ensembl	human	known	69_37n	silent	41	19.61	10	SNP	0.018	A
ATP2A2	488	genome.wustl.edu	37	12	110781158	110781158	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:110781158G>A	ENST00000539276.2	+	16	2549	c.2440G>A	c.(2440-2442)Gac>Aac	p.D814N	ATP2A2_ENST00000395494.2_Missense_Mutation_p.D787N|ATP2A2_ENST00000308664.6_Missense_Mutation_p.D814N			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	814					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCCTGATCTGGACATCATGAA	0.498																																						dbGAP											0													96.0	100.0	99.0					12																	110781158		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2440G>A	12.37:g.110781158G>A	ENSP00000440045:p.Asp814Asn		A6NDN7|B4DF05|P16614|Q86VJ2	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,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.D814N	ENST00000539276.2	37	c.2440	CCDS9144.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.689819|5.689819	0.96784|0.96784	.|.	.|.	ENSG00000174437|ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276|ENST00000548169	D;D;D|.	0.90069|.	-2.61;-2.61;-2.61|.	5.3|5.3	5.3|5.3	0.74995|0.74995	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83894|0.83894	0.5353|0.5353	M|M	0.87328|0.87328	2.875|2.875	0.80722|0.80722	D|D	1|1	P;B;P|.	0.44139|.	0.827;0.416;0.623|.	B;B;B|.	0.42112|.	0.376;0.095;0.211|.	D|D	0.85641|0.85641	0.1276|0.1276	10|5	0.59425|.	D|.	0.04|.	.|.	19.321|19.321	0.94240|0.94240	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	787;814;814|.	P16615-4;P16615-2;P16615|.	.;.;AT2A2_HUMAN|.	N|E	814;787;814|704	ENSP00000311186:D814N;ENSP00000378872:D787N;ENSP00000440045:D814N|.	ENSP00000311186:D814N|.	D|G	+|+	1|2	0|0	ATP2A2|ATP2A2	109265541|109265541	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.810000|9.810000	0.99221|0.99221	2.654000|2.654000	0.90174|0.90174	0.561000|0.561000	0.74099|0.74099	GAC|GGA	ATP2A2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp	ENSG00000174437		0.498	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	144	0.00	0	G	NM_001681		110781158	110781158	+1	no_errors	ENST00000539276	ensembl	human	known	69_37n	missense	110	26.17	39	SNP	1.000	A
ATP6V1H	51606	genome.wustl.edu	37	8	54656217	54656217	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:54656217G>A	ENST00000359530.2	-	13	1574	c.1311C>T	c.(1309-1311)gtC>gtT	p.V437V	ATP6V1H_ENST00000396774.2_Silent_p.V437V|ATP6V1H_ENST00000355221.3_Silent_p.V419V|ATP6V1H_ENST00000520188.1_Silent_p.V397V|ATP6V1H_ENST00000523899.1_5'UTR	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	437					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			TGTGGTTCATGACCAGCTGCT	0.522																																						dbGAP											0													90.0	72.0	78.0					8																	54656217		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1311C>T	8.37:g.54656217G>A			B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Silent	SNP	pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu	p.V437	ENST00000359530.2	37	c.1311	CCDS6153.1	8																																																																																			ATP6V1H	-	pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu	ENSG00000047249		0.522	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1H	HGNC	protein_coding	OTTHUMT00000377865.1	36	0.00	0	G	NM_015941		54656217	54656217	-1	no_errors	ENST00000359530	ensembl	human	known	69_37n	silent	23	25.81	8	SNP	0.063	A
ATP8A2	51761	genome.wustl.edu	37	13	26348991	26348991	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:26348991C>T	ENST00000381655.2	+	27	2715	c.2573C>T	c.(2572-2574)tCc>tTc	p.S858F	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.S818F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	818					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|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(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTTCAGTTTTCCTACTTAGAG	0.403																																						dbGAP											0													157.0	130.0	138.0					13																	26348991		1838	4084	5922	-	-	-	SO:0001583	missense	0			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2573C>T	13.37:g.26348991C>T	ENSP00000371070:p.Ser858Phe		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	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.S858F	ENST00000381655.2	37	c.2573	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063292	0.36373	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.82167	-1.58;-1.58	5.52	3.76	0.43208	HAD-like domain (2);	0.119152	0.64402	D	0.000016	T	0.78142	0.4237	L	0.41824	1.3	0.40691	D	0.982393	B;B;B	0.15141	0.012;0.01;0.012	B;B;B	0.17979	0.009;0.02;0.009	T	0.74682	-0.3583	10	0.87932	D	0	.	15.5544	0.76180	0.0:0.6052:0.3948:0.0	.	818;638;818	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	F	858;818;638	ENSP00000371070:S858F;ENSP00000255283:S818F	ENSP00000255283:S818F	S	+	2	0	ATP8A2	25246991	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.754000	0.38369	0.845000	0.35118	0.650000	0.86243	TCC	ATP8A2	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000132932		0.403	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	138	0.00	0	C	NM_016529		26348991	26348991	+1	no_errors	ENST00000381655	ensembl	human	known	69_37n	missense	119	32.39	57	SNP	1.000	T
ATP7B	540	genome.wustl.edu	37	13	52532602	52532602	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:52532602C>A	ENST00000242839.4	-	8	2356	c.2200G>T	c.(2200-2202)Gtc>Ttc	p.V734F	ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000542656.1_Missense_Mutation_p.R509L|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000400366.3_Missense_Mutation_p.V623F|ATP7B_ENST00000417240.2_Missense_Mutation_p.V6F|ATP7B_ENST00000418097.2_Missense_Mutation_p.V734F	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	734					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)	GTGGCCAGGACGATGAGCACG	0.532									Wilson disease																													dbGAP											0													116.0	121.0	119.0					13																	52532602		2100	4227	6327	-	-	-	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.2200G>T	13.37:g.52532602C>A	ENSP00000242839:p.Val734Phe		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.V734F	ENST00000242839.4	37	c.2200	CCDS41892.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.373556|5.373556	0.95923|0.95923	.|.	.|.	ENSG00000123191|ENSG00000123191	ENST00000542656|ENST00000242839;ENST00000400366;ENST00000417240;ENST00000418097	D|D;D;D;D	0.86769|0.95412	-2.17|-3.57;-3.57;-3.7;-3.57	5.54|5.54	5.54|5.54	0.83059|0.83059	.|ATPase,  P-type, cytoplasmic transduction domain A (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98150|0.98150	0.9389|0.9389	M|M	0.88241|0.88241	2.94|2.94	0.48975|0.48975	D|D	0.999732|0.999732	B|D;D;P;D	0.25235|0.89917	0.121|1.0;1.0;0.831;1.0	B|D;D;B;D	0.35550|0.97110	0.205|1.0;1.0;0.275;0.997	D|D	0.98755|0.98755	1.0722|1.0722	9|10	0.87932|0.72032	D|D	0|0.01	-24.5645|-24.5645	19.4852|19.4852	0.95026|0.95026	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	509|734;6;623;734	F6XIH0|F5H748;E7EQQ2;P35670-3;P35670	.|.;.;.;ATP7B_HUMAN	L|F	509|734;623;6;734	ENSP00000443128:R509L|ENSP00000242839:V734F;ENSP00000383217:V623F;ENSP00000390360:V6F;ENSP00000393343:V734F	ENSP00000443128:R509L|ENSP00000242839:V734F	R|V	-|-	2|1	0|0	ATP7B|ATP7B	51430603|51430603	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.770000|7.770000	0.85390|0.85390	2.590000|2.590000	0.87494|0.87494	0.563000|0.563000	0.77884|0.77884	CGT|GTC	ATP7B	-	prints_ATPase_P-typ_cat/Cu-transptr,tigrfam_ATPase_P-typ_heavy-metal	ENSG00000123191		0.532	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	200	0.00	0	C	NM_000053		52532602	52532602	-1	no_errors	ENST00000242839	ensembl	human	known	69_37n	missense	156	11.36	20	SNP	1.000	A
ATXN2	6311	genome.wustl.edu	37	12	111954043	111954043	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:111954043C>T	ENST00000377617.3	-	10	1931	c.1770G>A	c.(1768-1770)tcG>tcA	p.S590S	ATXN2_ENST00000535949.1_Silent_p.S301S|ATXN2_ENST00000608853.1_Silent_p.S430S|ATXN2_ENST00000389153.4_Silent_p.S325S|ATXN2_ENST00000542287.2_Silent_p.S325S|ATXN2_ENST00000550104.1_Silent_p.S590S	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	590	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.S590S(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGATGGCCGCGAGGGGGGCC	0.602																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											33.0	36.0	35.0					12																	111954043		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1770G>A	12.37:g.111954043C>T			A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.R511H	ENST00000377617.3	37	c.1532	CCDS31902.1	12																																																																																			ATXN2	-	NULL	ENSG00000204842		0.602	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	48	0.00	0	C	NM_002973		111954043	111954043	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000483311	ensembl	human	known	69_37n	missense	52	18.75	12	SNP	1.000	T
AUNIP	79000	genome.wustl.edu	37	1	26162169	26162169	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:26162169G>A	ENST00000374298.3	-	3	443	c.389C>T	c.(388-390)gCt>gTt	p.A130V	AUNIP_ENST00000538789.1_Missense_Mutation_p.A130V|AUNIP_ENST00000481602.1_Intron	NM_024037.1	NP_076942.1	Q9H7T9	AUNIP_HUMAN	aurora kinase A and ninein interacting protein	130					spindle organization (GO:0007051)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)											AGAGAGTCCAGCTTCCTGGAT	0.502																																						dbGAP											0													161.0	152.0	155.0					1																	26162169		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS266.1, CCDS72731.1	1p36.11	2012-08-07	2012-08-07	2012-08-07	ENSG00000127423	ENSG00000127423			28363	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 135"""	C1orf135		20596670	Standard	NM_001287490		Approved	MGC2603, AIBp	uc001bkw.1	Q9H7T9	OTTHUMG00000007372	ENST00000374298.3:c.389C>T	1.37:g.26162169G>A	ENSP00000363416:p.Ala130Val		C9EI59|Q53F70	Missense_Mutation	SNP	NULL	p.A130V	ENST00000374298.3	37	c.389	CCDS266.1	1	.	.	.	.	.	.	.	.	.	.	G	13.35	2.209572	0.39003	.	.	ENSG00000127423	ENST00000538789;ENST00000374298	T;T	0.54279	0.58;0.58	5.14	-0.578	0.11724	.	1.098510	0.06959	N	0.816050	T	0.31638	0.0803	L	0.34521	1.04	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.18241	-1.0343	10	0.07325	T	0.83	3.0325	1.3808	0.02230	0.1938:0.3206:0.3208:0.1649	.	130	Q9H7T9	CA135_HUMAN	V	130	ENSP00000443647:A130V;ENSP00000363416:A130V	ENSP00000363416:A130V	A	-	2	0	C1orf135	26034756	0.118000	0.22208	0.010000	0.14722	0.887000	0.51463	1.302000	0.33459	0.035000	0.15519	-0.291000	0.09656	GCT	AUNIP	-	NULL	ENSG00000127423		0.502	AUNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AUNIP	HGNC	protein_coding	OTTHUMT00000019309.2	114	0.00	0	G	NM_024037		26162169	26162169	-1	no_errors	ENST00000538789	ensembl	human	known	69_37n	missense	127	15.33	23	SNP	0.000	A
AVIL	10677	genome.wustl.edu	37	12	58207950	58207950	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:58207950G>A	ENST00000257861.3	-	2	556	c.126C>T	c.(124-126)tgC>tgT	p.C42C	RP11-571M6.18_ENST00000602327.1_lincRNA|AVIL_ENST00000537081.1_Silent_p.C35C	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	42	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGATGACGTAGCAGTCCCCCT	0.612																																						dbGAP											0													79.0	65.0	70.0					12																	58207950		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.126C>T	12.37:g.58207950G>A			B2RAU7|Q2NKM9	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.C42	ENST00000257861.3	37	c.126	CCDS8959.1	12																																																																																			AVIL	-	pfam_Gelsolin_dom,smart_Gelsolin	ENSG00000135407		0.612	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	HGNC	protein_coding	OTTHUMT00000409276.1	17	0.00	0	G	NM_006576		58207950	58207950	-1	no_errors	ENST00000257861	ensembl	human	known	69_37n	silent	12	25.00	4	SNP	1.000	A
BACH2	60468	genome.wustl.edu	37	6	90660493	90660493	+	Silent	SNP	C	C	T	rs184575997	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:90660493C>T	ENST00000257749.4	-	7	2039	c.1332G>A	c.(1330-1332)tcG>tcA	p.S444S	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.S444S|BACH2_ENST00000343122.3_Silent_p.S444S	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	444						cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AAGAATGCACCGAGGTGCTCA	0.612													C|||	3	0.000599042	0.0	0.0043	5008	,	,		17959	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													43.0	47.0	46.0					6																	90660493		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1332G>A	6.37:g.90660493C>T			E1P518|Q59H70|Q5T793|Q9NTS5	Silent	SNP	pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.S444	ENST00000257749.4	37	c.1332	CCDS5026.1	6																																																																																			BACH2	-	NULL	ENSG00000112182		0.612	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	141	0.00	0	C	NM_021813		90660493	90660493	-1	no_errors	ENST00000257749	ensembl	human	known	69_37n	silent	111	60.28	170	SNP	0.840	T
BAG4	9530	genome.wustl.edu	37	8	38067576	38067576	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:38067576C>T	ENST00000287322.4	+	5	1210	c.939C>T	c.(937-939)aaC>aaT	p.N313N	BAG4_ENST00000432471.2_Silent_p.N277N	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	313					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				ACCGGCACAACTTTCCTTGCA	0.458																																						dbGAP											0													161.0	141.0	148.0					8																	38067576		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.939C>T	8.37:g.38067576C>T			B4E217|O95818	Silent	SNP	pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain	p.N313	ENST00000287322.4	37	c.939	CCDS6104.1	8																																																																																			BAG4	-	NULL	ENSG00000156735		0.458	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG4	HGNC	protein_coding	OTTHUMT00000377038.2	230	0.00	0	C	NM_004874		38067576	38067576	+1	no_errors	ENST00000287322	ensembl	human	known	69_37n	silent	204	16.39	40	SNP	0.999	T
BAHD1	22893	genome.wustl.edu	37	15	40751151	40751151	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:40751151G>A	ENST00000416165.1	+	2	559	c.488G>A	c.(487-489)gGc>gAc	p.G163D	BAHD1_ENST00000560846.1_Missense_Mutation_p.G163D|BAHD1_ENST00000561234.1_Missense_Mutation_p.G163D	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	163					heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCTACTGGGGGCTGGTCCTCC	0.687																																						dbGAP											0													20.0	27.0	24.0					15																	40751151		2193	4294	6487	-	-	-	SO:0001583	missense	0			AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.488G>A	15.37:g.40751151G>A	ENSP00000396976:p.Gly163Asp		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.G163D	ENST00000416165.1	37	c.488	CCDS10058.1	15	.	.	.	.	.	.	.	.	.	.	G	5.114	0.206697	0.09704	.	.	ENSG00000140320	ENST00000416165	T	0.20463	2.07	5.29	3.36	0.38483	.	0.477607	0.20086	N	0.099554	T	0.13114	0.0318	N	0.14661	0.345	0.35527	D	0.801884	B;B;B	0.20988	0.05;0.03;0.05	B;B;B	0.23852	0.049;0.022;0.049	T	0.12218	-1.0556	10	0.40728	T	0.16	-4.0907	11.005	0.47629	0.0713:0.4035:0.5252:0.0	.	163;163;163	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	D	163	ENSP00000396976:G163D	ENSP00000396976:G163D	G	+	2	0	BAHD1	38538443	0.788000	0.28762	0.735000	0.30896	0.279000	0.26890	0.924000	0.28777	0.742000	0.32697	0.650000	0.86243	GGC	BAHD1	-	NULL	ENSG00000140320		0.687	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAHD1	HGNC	protein_coding	OTTHUMT00000252248.1	26	0.00	0	G	NM_014952		40751151	40751151	+1	no_errors	ENST00000416165	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	0.873	A
BAP1	8314	genome.wustl.edu	37	3	52436924	52436924	+	Intron	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:52436924G>A	ENST00000460680.1	-	15	2362				BAP1_ENST00000296288.5_Intron	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)						anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GATCGGGGCGGGCCAGCAACA	0.587			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	dbGAP		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													51.0	52.0	52.0					3																	52436924		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1891-37C>T	3.37:g.52436924G>A			B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	NULL	p.A142	ENST00000460680.1	37	c.426	CCDS2853.1	3																																																																																			BAP1	-	NULL	ENSG00000163930		0.587	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000350895.1	35	0.00	0	G			52436924	52436924	-1	no_start_codon	ENST00000478368	ensembl	human	novel	69_37n	silent	30	30.23	13	SNP	0.000	A
BAP1	8314	genome.wustl.edu	37	3	52437870	52437870	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:52437870C>T	ENST00000460680.1	-	13	1762	c.1291G>A	c.(1291-1293)Ggt>Agt	p.G431S	BAP1_ENST00000296288.5_Missense_Mutation_p.G413S	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCAGCAGAACCGCTCAATGCC	0.562			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	dbGAP		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	0													101.0	104.0	103.0					3																	52437870		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.1291G>A	3.37:g.52437870C>T	ENSP00000417132:p.Gly431Ser		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	pfam_Peptidase_C12,prints_Peptidase_C12	p.G431S	ENST00000460680.1	37	c.1291	CCDS2853.1	3	.	.	.	.	.	.	.	.	.	.	C	7.260	0.604919	0.14002	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.54675	0.56;0.57	6.04	-0.889	0.10580	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (1);	0.660669	0.15693	N	0.249355	T	0.28433	0.0703	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29305	-1.0016	10	0.05721	T	0.95	.	9.4651	0.38809	0.0:0.4251:0.0:0.5749	.	431	Q92560	BAP1_HUMAN	S	431;413	ENSP00000417132:G431S;ENSP00000296288:G413S	ENSP00000296288:G413S	G	-	1	0	BAP1	52412910	0.001000	0.12720	0.000000	0.03702	0.878000	0.50629	-0.230000	0.09083	-0.504000	0.06577	-0.143000	0.13931	GGT	BAP1	-	NULL	ENSG00000163930		0.562	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAP1	HGNC	protein_coding	OTTHUMT00000350895.1	40	0.00	0	C			52437870	52437870	-1	no_errors	ENST00000460680	ensembl	human	known	69_37n	missense	50	27.54	19	SNP	0.000	T
BCAS4	55653	genome.wustl.edu	37	20	49457075	49457075	+	Intron	SNP	G	G	A	rs540895096	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:49457075G>A	ENST00000358791.5	+	4	454				BCAS4_ENST00000371608.2_Intron|BCAS4_ENST00000262591.5_Intron|BCAS4_ENST00000609336.1_Intron	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4							cytoplasm (GO:0005737)				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ATCTTACAGAGTTAAACAGCT	0.448																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.355-1228G>A	20.37:g.49457075G>A			Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Silent	SNP	NULL	p.E93	ENST00000358791.5	37	c.279	CCDS33487.1	20																																																																																			BCAS4	-	NULL	ENSG00000124243		0.448	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS4	HGNC	protein_coding	OTTHUMT00000079700.1	103	0.00	0	G	NM_017843		49457075	49457075	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000463943	ensembl	human	known	69_37n	silent	108	14.29	18	SNP	1.000	A
BEST1	7439	genome.wustl.edu	37	11	61719351	61719351	+	Missense_Mutation	SNP	C	C	T	rs281865214		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:61719351C>T	ENST00000378043.4	+	2	716	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	BEST1_ENST00000301774.9_Intron|BEST1_ENST00000435278.2_Missense_Mutation_p.R25W|BEST1_ENST00000378042.3_5'UTR|BEST1_ENST00000449131.2_Intron|BEST1_ENST00000534553.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	25			R -> Q (in VMD2).|R -> W (in VMD2).		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						GCTGTGCTGGCGGGGCAGCAT	0.557																																						dbGAP											0			GRCh37	CM001376	BEST1	M							85.0	87.0	87.0					11																	61719351		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.73C>T	11.37:g.61719351C>T	ENSP00000367282:p.Arg25Trp		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.R25W	ENST00000378043.4	37	c.73	CCDS31580.1	11	.	.	.	.	.	.	.	.	.	.	C	19.56	3.851108	0.71719	.	.	ENSG00000167995	ENST00000378043;ENST00000435278	D;D	0.98987	-5.3;-5.3	5.46	1.91	0.25777	.	0.308213	0.25052	U	0.033507	D	0.99411	0.9792	M	0.94101	3.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.99226	1.0880	10	0.87932	D	0	.	15.6723	0.77289	0.38:0.62:0.0:0.0	.	25;25	B7Z375;O76090	.;BEST1_HUMAN	W	25	ENSP00000367282:R25W;ENSP00000408390:R25W	ENSP00000367282:R25W	R	+	1	2	BEST1	61475927	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	2.234000	0.43035	0.575000	0.29434	0.561000	0.74099	CGG	BEST1	-	pfam_Bestrophin/UPF0187	ENSG00000167995		0.557	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	HGNC	protein_coding	OTTHUMT00000394715.1	97	0.00	0	C	NM_004183		61719351	61719351	+1	no_errors	ENST00000378043	ensembl	human	known	69_37n	missense	84	23.64	26	SNP	0.859	T
BLOC1S1	2647	genome.wustl.edu	37	12	56112986	56112986	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:56112986G>A	ENST00000548925.1	+	3	345	c.330G>A	c.(328-330)gaG>gaA	p.E110E	BLOC1S1_ENST00000548556.1_Silent_p.E32E|RP11-644F5.10_ENST00000549424.1_Silent_p.E32E|RDH5_ENST00000257895.5_5'Flank|RDH5_ENST00000547072.1_5'Flank|BLOC1S1_ENST00000547076.1_Silent_p.E32E|BLOC1S1_ENST00000551926.1_Silent_p.E32E|RDH5_ENST00000548082.1_5'Flank|BLOC1S1_ENST00000257899.2_Silent_p.E82E|BLOC1S1_ENST00000549147.1_Silent_p.E110E|RP11-644F5.10_ENST00000550412.1_Silent_p.E110E			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	110					aerobic respiration (GO:0009060)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|peptidyl-lysine acetylation (GO:0018394)|platelet dense granule organization (GO:0060155)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)				breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						GAATGGTGGAGAACTTCAACC	0.567																																					Colon(112;1254 2715 13015)	dbGAP											0													90.0	76.0	81.0					12																	56112986		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S82447	CCDS8889.1, CCDS8889.2	12q13-q14	2012-08-01	2008-08-11	2004-05-26		ENSG00000135441		"""Biogenesis of lysosomal organelles complex-1 subunits"""	4200	protein-coding gene	gene with protein product	"""GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1"", ""BLOC-1 Subunit 1"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 1"""	601444	"""GCN5 general control of amino-acid synthesis 5-like 1 (yeast)"""	GCN5L1		8646881, 15102850	Standard	NM_001487		Approved	BLOS1	uc001shi.4	P78537		ENST00000548925.1:c.330G>A	12.37:g.56112986G>A			A1L4Q9|Q6NZ45	Silent	SNP	pfam_GCN5L1	p.E110	ENST00000548925.1	37	c.330	CCDS8889.2	12																																																																																			BLOC1S1	-	pfam_GCN5L1	ENSG00000135441		0.567	BLOC1S1-001	KNOWN	downstream_ATG|basic|CCDS	protein_coding	BLOC1S1	HGNC	protein_coding	OTTHUMT00000406681.1	44	0.00	0	G	NM_001487		56112986	56112986	+1	no_errors	ENST00000548925	ensembl	human	known	69_37n	silent	30	18.92	7	SNP	1.000	A
BMP3	651	genome.wustl.edu	37	4	81967378	81967378	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:81967378G>A	ENST00000282701.2	+	2	1123	c.803G>A	c.(802-804)gGa>gAa	p.G268E		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	268					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TTTCCCACTGGAACTGTTCCC	0.502																																						dbGAP											0													82.0	84.0	83.0					4																	81967378		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.803G>A	4.37:g.81967378G>A	ENSP00000282701:p.Gly268Glu		Q4VAS5	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.G268E	ENST00000282701.2	37	c.803	CCDS3588.1	4	.	.	.	.	.	.	.	.	.	.	G	2.927	-0.221806	0.06061	.	.	ENSG00000152785	ENST00000282701	T	0.74421	-0.84	4.61	1.79	0.24919	.	0.745787	0.13845	N	0.358782	T	0.65637	0.2710	M	0.71581	2.175	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.50004	-0.8878	10	0.08599	T	0.76	.	6.336	0.21296	0.0877:0.0:0.5904:0.3218	.	268	P12645	BMP3_HUMAN	E	268	ENSP00000282701:G268E	ENSP00000282701:G268E	G	+	2	0	BMP3	82186402	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.210000	0.17455	0.228000	0.21019	-0.254000	0.11334	GGA	BMP3	-	pirsf_BMP3/GDF10	ENSG00000152785		0.502	BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP3	HGNC	protein_coding	OTTHUMT00000252634.1	153	0.00	0	G			81967378	81967378	+1	no_errors	ENST00000282701	ensembl	human	known	69_37n	missense	156	17.89	34	SNP	0.007	A
BNC2	54796	genome.wustl.edu	37	9	16435795	16435795	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:16435795G>A	ENST00000380672.4	-	6	2454	c.2397C>T	c.(2395-2397)gcC>gcT	p.A799A	BNC2_ENST00000545497.1_Silent_p.A704A|BNC2_ENST00000380667.2_Silent_p.A732A|BNC2_ENST00000380666.2_Silent_p.A799A	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CGGCCATGCTGGCACCCCCAC	0.507																																						dbGAP											0													109.0	95.0	100.0					9																	16435795		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.2397C>T	9.37:g.16435795G>A				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A799	ENST00000380672.4	37	c.2397	CCDS6482.2	9																																																																																			BNC2	-	NULL	ENSG00000173068		0.507	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	137	0.00	0	G	NM_017637		16435795	16435795	-1	no_errors	ENST00000380672	ensembl	human	known	69_37n	silent	108	32.30	52	SNP	1.000	A
BPIFC	254240	genome.wustl.edu	37	22	32810302	32810302	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:32810302C>T	ENST00000397452.1	-	16	1622	c.1512G>A	c.(1510-1512)aaG>aaA	p.K504K	RTCB_ENST00000216038.5_5'Flank|BPIFC_ENST00000432451.2_Silent_p.K261K|BPIFC_ENST00000534972.1_Silent_p.K228K|BPIFC_ENST00000300399.3_Silent_p.K504K|RTCB_ENST00000451746.2_5'Flank			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	504						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										AAGGGGCTGACTTCCCCCTCC	0.483																																						dbGAP											0													138.0	119.0	125.0					22																	32810302		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.1512G>A	22.37:g.32810302C>T			A2RRF1	Silent	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.K504	ENST00000397452.1	37	c.1512	CCDS13906.1	22																																																																																			BPIFC	-	NULL	ENSG00000184459		0.483	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	BPIFC	HGNC	protein_coding	OTTHUMT00000129029.2	166	0.00	0	C	NM_174932		32810302	32810302	-1	no_errors	ENST00000300399	ensembl	human	known	69_37n	silent	167	13.47	26	SNP	0.004	T
BRCA2	675	genome.wustl.edu	37	13	32911128	32911128	+	Missense_Mutation	SNP	C	C	T	rs397507636		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:32911128C>T	ENST00000380152.3	+	11	2869	c.2636C>T	c.(2635-2637)tCt>tTt	p.S879F	BRCA2_ENST00000544455.1_Missense_Mutation_p.S879F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	879	Interaction with NPM1.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AATCCAGACTCTGAAGAACTT	0.303			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	dbGAP	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0			GRCh37	CD082064	BRCA2	D							49.0	51.0	50.0					13																	32911128		2202	4299	6501	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.2636C>T	13.37:g.32911128C>T	ENSP00000369497:p.Ser879Phe		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	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.S879F	ENST00000380152.3	37	c.2636	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	C	12.43	1.937090	0.34189	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.65364	-0.15;-0.15	5.77	3.95	0.45737	.	0.317386	0.27802	N	0.017789	T	0.63908	0.2551	L	0.49778	1.585	0.09310	N	1	D	0.56521	0.976	P	0.53689	0.732	T	0.57653	-0.7774	10	0.87932	D	0	.	8.19	0.31363	0.2676:0.6594:0.0:0.073	.	879	P51587	BRCA2_HUMAN	F	879	ENSP00000369497:S879F;ENSP00000439902:S879F	ENSP00000369497:S879F	S	+	2	0	BRCA2	31809128	0.932000	0.31603	0.052000	0.19188	0.383000	0.30230	3.531000	0.53546	1.449000	0.47699	0.591000	0.81541	TCT	BRCA2	-	pirsf_DNA_recomb/repair_BRCA2	ENSG00000139618		0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	135	0.00	0	C	NM_000059		32911128	32911128	+1	no_errors	ENST00000380152	ensembl	human	known	69_37n	missense	64	13.51	10	SNP	0.007	T
BRD9	65980	genome.wustl.edu	37	5	865650	865650	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:865650C>T	ENST00000467963.1	-	15	1738	c.1572G>A	c.(1570-1572)ttG>ttA	p.L524L	BRD9_ENST00000483173.1_Silent_p.L471L|BRD9_ENST00000323510.4_Silent_p.L428L|BRD9_ENST00000388890.4_Silent_p.L408L	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	524					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			TCGTCTCATCCAAGTTCAAAT	0.632																																						dbGAP											0													184.0	181.0	182.0					5																	865650		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.1572G>A	5.37:g.865650C>T			A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.L524	ENST00000467963.1	37	c.1572	CCDS34127.2	5																																																																																			BRD9	-	NULL	ENSG00000028310		0.632	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1	73	0.00	0	C	NM_023924		865650	865650	-1	no_errors	ENST00000467963	ensembl	human	known	69_37n	silent	30	23.08	9	SNP	1.000	T
BRPF1	7862	genome.wustl.edu	37	3	9787515	9787515	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:9787515C>T	ENST00000457855.1	+	11	3218	c.3207C>T	c.(3205-3207)ggC>ggT	p.G1069G	BRPF1_ENST00000433861.2_Silent_p.G974G|BRPF1_ENST00000424362.1_Silent_p.G1068G|BRPF1_ENST00000383829.2_Silent_p.G1075G|BRPF1_ENST00000302054.3_Silent_p.G1069G			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1069	Required for RUNX1 and RUNX2 transcriptional activation.				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)					AGAGTCTGGGCCGGGGAGCTG	0.637																																						dbGAP											0													67.0	73.0	71.0					3																	9787515		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.3207C>T	3.37:g.9787515C>T			B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	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.G1075	ENST00000457855.1	37	c.3225	CCDS2575.1	3																																																																																			BRPF1	-	NULL	ENSG00000156983		0.637	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	35	0.00	0	C	NM_001003694		9787515	9787515	+1	no_errors	ENST00000383829	ensembl	human	known	69_37n	silent	43	20.37	11	SNP	0.990	T
LRRC74A	145497	genome.wustl.edu	37	14	77294963	77294963	+	Missense_Mutation	SNP	C	C	T	rs531888715	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:77294963C>T	ENST00000216453.5	+	1	289	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	C14orf166B_ENST00000393774.3_Intron|C14orf166B_ENST00000450042.2_Intron|C14orf166B_ENST00000460005.1_3'UTR																breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CAGCTTCCCACGCTTGTCACC	0.542													C|||	3	0.000599042	0.0015	0.0	5008	,	,		18367	0.0		0.001	False		,,,				2504	0.0				Ovarian(165;1056 1958 32571 36789 48728)	dbGAP											0																																										-	-	-	SO:0001583	missense	0																														ENST00000216453.5:c.289C>T	14.37:g.77294963C>T	ENSP00000216453:p.Arg97Cys			Missense_Mutation	SNP	NULL	p.R97C	ENST00000216453.5	37	c.289		14	.	.	.	.	.	.	.	.	.	.	C	9.586	1.124947	0.20959	.	.	ENSG00000100565	ENST00000555189;ENST00000216453	.	.	.	2.54	-2.62	0.06152	.	.	.	.	.	T	0.33585	0.0868	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.39702	-0.9601	5	0.87932	D	0	.	3.1462	0.06472	0.2561:0.4351:0.0:0.3088	.	.	.	.	C	140;97	.	ENSP00000216453:R97C	R	+	1	0	C14orf166B	76364716	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.241000	0.02911	-0.635000	0.05531	-0.379000	0.06801	CGC	C14orf166B	-	NULL	ENSG00000100565		0.542	C14orf166B-201	KNOWN	basic	protein_coding	C14orf166B	HGNC	protein_coding		13	0.00	0	C			77294963	77294963	+1	no_errors	ENST00000216453	ensembl	human	known	69_37n	missense	20	53.49	23	SNP	0.000	T
C14orf178	283579	genome.wustl.edu	37	14	78227452	78227452	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:78227452C>T	ENST00000355883.3	+	1	276	c.67C>T	c.(67-69)Ccc>Tcc	p.P23S	C14orf178_ENST00000557011.1_Missense_Mutation_p.P23S|SNW1_ENST00000554775.1_Intron|SNW1_ENST00000261531.7_Intron|C14orf178_ENST00000556047.1_Missense_Mutation_p.P23S|C14orf178_ENST00000439131.2_5'UTR|SNW1_ENST00000555761.1_Intron	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178	23										large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CAATCAACAACCCACCTGGTG	0.597																																						dbGAP											0													92.0	81.0	85.0					14																	78227452		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098842	CCDS9868.1, CCDS53906.1	14q24.3	2012-03-13			ENSG00000197734	ENSG00000197734			26385	protein-coding gene	gene with protein product						12477932	Standard	NM_001173978		Approved	FLJ25976	uc021rwv.1	Q8N769	OTTHUMG00000171528	ENST00000355883.3:c.67C>T	14.37:g.78227452C>T	ENSP00000348145:p.Pro23Ser		Q2HIX2|Q3KNR7	Missense_Mutation	SNP	NULL	p.P23S	ENST00000355883.3	37	c.67	CCDS9868.1	14	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260525	0.80246	.	.	ENSG00000197734	ENST00000355883;ENST00000557011;ENST00000556047	T;T	0.71579	1.41;-0.58	5.84	5.84	0.93424	.	.	.	.	.	T	0.74092	0.3671	N	0.16368	0.405	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.75379	-0.3338	9	0.45353	T	0.12	.	17.2924	0.87160	0.0:1.0:0.0:0.0	.	23	Q8N769	CN178_HUMAN	S	23	ENSP00000348145:P23S;ENSP00000451531:P23S	ENSP00000348145:P23S	P	+	1	0	C14orf178	77297205	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.373000	0.59537	2.768000	0.95171	0.491000	0.48974	CCC	C14orf178	-	NULL	ENSG00000197734		0.597	C14orf178-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C14orf178	HGNC	protein_coding	OTTHUMT00000413920.1	64	0.00	0	C	NM_174943		78227452	78227452	+1	no_errors	ENST00000355883	ensembl	human	known	69_37n	missense	46	35.21	25	SNP	1.000	T
C16orf92	146378	genome.wustl.edu	37	16	30035131	30035131	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:30035131C>T	ENST00000300575.2	+	2	235	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S	DOC2A_ENST00000567824.1_5'Flank	NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	72						integral component of membrane (GO:0016021)				breast(3)|lung(3)	6						CTTCGATTATCCGGACTCAGA	0.557																																						dbGAP											0													39.0	41.0	40.0					16																	30035131		1967	4139	6106	-	-	-	SO:0001583	missense	0			AK058133	CCDS42146.1	16p11.2	2012-05-30			ENSG00000167194	ENSG00000167194			26346	protein-coding gene	gene with protein product							Standard	NM_001109659		Approved	FLJ25404	uc002dvs.2	Q96LL3	OTTHUMG00000177107	ENST00000300575.2:c.214C>T	16.37:g.30035131C>T	ENSP00000300575:p.Pro72Ser		Q494R8	Missense_Mutation	SNP	NULL	p.P72S	ENST00000300575.2	37	c.214	CCDS42146.1	16	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034858	0.75617	.	.	ENSG00000167194	ENST00000300575	T	0.27402	1.67	5.4	4.39	0.52855	.	0.000000	0.46145	D	0.000310	T	0.42743	0.1216	L	0.32530	0.975	0.38190	D	0.939884	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.986	T	0.43310	-0.9399	10	0.62326	D	0.03	-15.4707	12.8413	0.57805	0.0:0.8358:0.1642:0.0	.	72;50	Q96LL3;Q96LL3-2	CP092_HUMAN;.	S	72	ENSP00000300575:P72S	ENSP00000300575:P72S	P	+	1	0	C16orf92	29942632	1.000000	0.71417	0.999000	0.59377	0.810000	0.45777	2.467000	0.45093	2.527000	0.85204	0.655000	0.94253	CCG	C16orf92	-	NULL	ENSG00000167194		0.557	C16orf92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf92	HGNC	protein_coding	OTTHUMT00000435351.1	27	0.00	0	C	NM_001109659		30035131	30035131	+1	no_errors	ENST00000300575	ensembl	human	known	69_37n	missense	38	34.48	20	SNP	0.998	T
C17orf75	64149	genome.wustl.edu	37	17	30665312	30665312	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:30665312G>A	ENST00000577809.1	-	4	455	c.406C>T	c.(406-408)Cct>Tct	p.P136S	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.P136S	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	136										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACTGTTTCAGGAAGCAGTTTT	0.358																																						dbGAP											0													107.0	102.0	104.0					17																	30665312		1837	4091	5928	-	-	-	SO:0001583	missense	0			AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.406C>T	17.37:g.30665312G>A	ENSP00000464275:p.Pro136Ser		Q7Z2H4	Missense_Mutation	SNP	NULL	p.P136S	ENST00000577809.1	37	c.406	CCDS58537.1	17	.	.	.	.	.	.	.	.	.	.	G	4.770	0.143100	0.09083	.	.	ENSG00000108666	ENST00000225805	.	.	.	5.68	1.47	0.22746	.	0.502393	0.21386	N	0.075399	T	0.39009	0.1062	L	0.43152	1.355	0.39796	D	0.972501	B	0.02656	0.0	B	0.04013	0.001	T	0.11108	-1.0601	9	0.14656	T	0.56	-26.4919	2.767	0.05323	0.2057:0.123:0.5442:0.1271	.	136	Q9HAS0	NJMU_HUMAN	S	136	.	ENSP00000225805:P136S	P	-	1	0	C17orf75	27689425	1.000000	0.71417	0.988000	0.46212	0.031000	0.12232	2.258000	0.43249	0.081000	0.16988	-0.258000	0.10820	CCT	C17orf75	-	NULL	ENSG00000108666		0.358	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	C17orf75	HGNC	protein_coding	OTTHUMT00000447204.1	142	0.00	0	G	NM_022344		30665312	30665312	-1	no_errors	ENST00000225805	ensembl	human	known	69_37n	missense	229	46.74	201	SNP	0.868	A
C19orf12	83636	genome.wustl.edu	37	19	30193648	30193648	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:30193648G>A	ENST00000392278.2	-	3	556	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	C19orf12_ENST00000592153.1_3'UTR|C19orf12_ENST00000392276.1_Silent_p.L69L|C19orf12_ENST00000323670.9_Silent_p.L133L|C19orf12_ENST00000392275.1_5'UTR	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	144					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			TCGGCCCGCAGCTCCTTGGTG	0.632																																						dbGAP											0													32.0	37.0	35.0					19																	30193648		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.430C>T	19.37:g.30193648G>A			B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Silent	SNP	NULL	p.L144	ENST00000392278.2	37	c.430	CCDS42542.1	19																																																																																			C19orf12	-	NULL	ENSG00000131943		0.632	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	C19orf12	HGNC	protein_coding	OTTHUMT00000313509.2	25	0.00	0	G	NM_031448		30193648	30193648	-1	no_errors	ENST00000392278	ensembl	human	known	69_37n	silent	36	16.28	7	SNP	1.000	A
C19orf47	126526	genome.wustl.edu	37	19	40832364	40832364	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:40832364G>A	ENST00000582783.1	-	7	592	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L	C19orf47_ENST00000392035.2_Silent_p.L127L	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	194						nucleus (GO:0005634)				endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			GGAACAGCCAGGCTCTCCTCC	0.622																																						dbGAP											0													59.0	47.0	51.0					19																	40832364		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL834131	CCDS58662.1	19q13.2	2012-07-20			ENSG00000160392	ENSG00000160392			26723	protein-coding gene	gene with protein product						12477932	Standard	NM_001256440		Approved	FLJ36888	uc002oni.5	Q8N9M1	OTTHUMG00000179028	ENST00000582783.1:c.580C>T	19.37:g.40832364G>A			Q8IZ33|Q8N0V9	Silent	SNP	superfamily_SAM/pointed	p.L194	ENST00000582783.1	37	c.580	CCDS58662.1	19																																																																																			C19orf47	-	NULL	ENSG00000160392		0.622	C19orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf47	HGNC	protein_coding	OTTHUMT00000444488.1	27	0.00	0	G	NM_178830		40832364	40832364	-1	no_errors	ENST00000582783	ensembl	human	known	69_37n	silent	48	27.27	18	SNP	0.422	A
RSRP1	57035	genome.wustl.edu	37	1	25573240	25573240	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:25573240C>T	ENST00000243189.7	-	2	491	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	RP3-465N24.6_ENST00000607698.1_lincRNA|C1orf63_ENST00000417642.2_Missense_Mutation_p.R65Q|C1orf63_ENST00000431849.2_Missense_Mutation_p.R72Q	NM_020317.3	NP_064713.3	Q9BUV0	RSRP1_HUMAN		72	Arg/Ser-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGTACTTCCGCTGGTGGCG	0.637																																						dbGAP											0													44.0	47.0	46.0					1																	25573240		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000243189.7:c.215G>A	1.37:g.25573240C>T	ENSP00000243189:p.Arg72Gln		A8K917|Q49AA4|Q5TH71|Q9GZP6	Missense_Mutation	SNP	NULL	p.R65Q	ENST00000243189.7	37	c.194	CCDS260.1	1	.	.	.	.	.	.	.	.	.	.	c	20.3	3.959435	0.74016	.	.	ENSG00000117616	ENST00000243189;ENST00000417642;ENST00000431849;ENST00000511740	T;T;T	0.61040	0.41;0.39;0.14	4.73	4.73	0.59995	.	0.000000	0.39615	N	0.001304	T	0.71660	0.3366	L	0.60455	1.87	0.39403	D	0.966629	D	0.89917	1.0	D	0.87578	0.998	T	0.74390	-0.3681	10	0.54805	T	0.06	-12.7678	14.5519	0.68073	0.0:1.0:0.0:0.0	.	72	Q9BUV0	CA063_HUMAN	Q	72;65;72;72	ENSP00000243189:R72Q;ENSP00000411631:R65Q;ENSP00000391510:R72Q	ENSP00000243189:R72Q	R	-	2	0	C1orf63	25445827	0.073000	0.21202	0.957000	0.39632	0.984000	0.73092	3.868000	0.56055	2.450000	0.82876	0.561000	0.74099	CGG	C1orf63	-	NULL	ENSG00000117616		0.637	C1orf63-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf63	HGNC	protein_coding	OTTHUMT00000101966.2	42	0.00	0	C			25573240	25573240	-1	no_errors	ENST00000417642	ensembl	human	known	69_37n	missense	47	28.79	19	SNP	0.978	T
C1orf168	199920	genome.wustl.edu	37	1	57254752	57254752	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:57254752G>A	ENST00000343433.6	-	3	893	c.813C>T	c.(811-813)tcC>tcT	p.S271S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	271										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGGAGTCGATGGAGGGCAATG	0.493																																						dbGAP											0													156.0	146.0	149.0					1																	57254752		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.813C>T	1.37:g.57254752G>A			Q63HM3|Q6ZUY6	Silent	SNP	superfamily_SH3_domain	p.S271	ENST00000343433.6	37	c.813	CCDS30729.1	1																																																																																			C1orf168	-	NULL	ENSG00000187889		0.493	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	164	0.00	0	G	NM_001004303		57254752	57254752	-1	no_errors	ENST00000343433	ensembl	human	known	69_37n	silent	149	24.75	49	SNP	0.014	A
CFAP61	26074	genome.wustl.edu	37	20	20340945	20340945	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:20340945G>A	ENST00000245957.5	+	27	3681	c.3605G>A	c.(3604-3606)aGa>aAa	p.R1202K	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1202										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TACCTCAAAAGAGTTTTTGAG	0.483											OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													155.0	159.0	158.0					20																	20340945		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000245957.5:c.3605G>A	20.37:g.20340945G>A	ENSP00000245957:p.Arg1202Lys	740	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.R1202K	ENST00000245957.5	37	c.3605	CCDS33447.1	20	.	.	.	.	.	.	.	.	.	.	g	1.253	-0.617945	0.03663	.	.	ENSG00000089101	ENST00000343997;ENST00000389655;ENST00000245957	T	0.08546	3.08	5.12	3.1	0.35709	.	0.245376	0.28595	N	0.014785	T	0.05090	0.0136	N	0.17474	0.49	0.22199	N	0.9993	B	0.11235	0.004	B	0.13407	0.009	T	0.40794	-0.9544	10	0.12430	T	0.62	.	11.8277	0.52278	0.1589:0.0:0.8411:0.0	.	1202	Q8NHU2	CT026_HUMAN	K	1142;1168;1202	ENSP00000245957:R1202K	ENSP00000245957:R1202K	R	+	2	0	C20orf26	20288945	0.021000	0.18746	0.135000	0.22099	0.010000	0.07245	1.289000	0.33307	1.265000	0.44215	0.552000	0.68991	AGA	C20orf26	-	NULL	ENSG00000089101		0.483	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	91	0.00	0	G			20340945	20340945	+1	no_errors	ENST00000245957	ensembl	human	known	69_37n	missense	105	27.08	39	SNP	0.045	A
MAP3K7CL	56911	genome.wustl.edu	37	21	30547137	30547137	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr21:30547137G>A	ENST00000399947.2	+	9	930	c.653G>A	c.(652-654)aGg>aAg	p.R218K	MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.R118K|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.R118K|MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.R218K|MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.R118K|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.R118K|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.R118K|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.R112K|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.R118K	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	218						cytosol (GO:0005829)|nucleus (GO:0005634)											CGGACGTTGAGGTTGGCCCAG	0.488																																						dbGAP											0													116.0	106.0	109.0					21																	30547137		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"""chromosome 21 open reading frame 7"""	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.653G>A	21.37:g.30547137G>A	ENSP00000382828:p.Arg218Lys		D3DSE0|Q8TCL9	Missense_Mutation	SNP	NULL	p.R218K	ENST00000399947.2	37	c.653	CCDS13584.1	21	.	.	.	.	.	.	.	.	.	.	G	4.855	0.158857	0.09236	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925	T;T	0.41065	1.01;1.01	4.06	2.81	0.32909	.	0.471909	0.22633	N	0.057560	T	0.13372	0.0324	N	0.01705	-0.755	0.21579	N	0.999636	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32025	-0.9922	10	0.02654	T	1	-10.5376	8.2963	0.31986	0.83:0.0:0.1699:0.0	.	118;218	B0EVZ8;P57077	.;TAK1L_HUMAN	K	112;218;118;118;218;118;118;118;118	ENSP00000343212:R218K;ENSP00000382828:R218K	ENSP00000345777:R118K	R	+	2	0	C21orf7	29469008	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	2.427000	0.44740	0.881000	0.35993	-0.300000	0.09419	AGG	C21orf7	-	NULL	ENSG00000156265		0.488	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	C21orf7	HGNC	protein_coding	OTTHUMT00000171865.2	131	0.00	0	G	NM_020152		30547137	30547137	+1	no_errors	ENST00000341618	ensembl	human	known	69_37n	missense	175	10.26	20	SNP	1.000	A
SLC35F6	54978	genome.wustl.edu	37	2	26998495	26998495	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:26998495C>T	ENST00000344420.5	+	4	548	c.486C>T	c.(484-486)gaC>gaT	p.D162D	SLC35F6_ENST00000482746.1_3'UTR|SLC35F6_ENST00000416475.2_Silent_p.D79D|CENPA_ENST00000475662.1_Intron	NM_017877.3	NP_060347.2	Q8N357	S35F6_HUMAN	solute carrier family 35, member F6	162					negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)											GCCTGGCTGACCTCCTGAGCA	0.672																																						dbGAP											0													35.0	30.0	31.0					2																	26998495		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK075164	CCDS1728.1	2p24.1	2012-12-13	2012-12-07	2012-12-07	ENSG00000213699	ENSG00000213699			26055	protein-coding gene	gene with protein product	"""ANT2-binding protein"", ""transport and golgi organization 9 homolog (Drosophila)"""		"""chromosome 2 open reading frame 18"""	C2orf18		15911612, 19154410	Standard	NM_017877		Approved	FLJ20555, ANT2BP, TANGO9	uc002rhp.1	Q8N357	OTTHUMG00000128407	ENST00000344420.5:c.486C>T	2.37:g.26998495C>T			D6W543|Q53GK2|Q8NBX6|Q9NWX0	Silent	SNP	pfam_DUF914_euk,pfam_Nuc_sug_transpt,pfam_DMT,pfam_DUF250,pfam_UAA,pirsf_UCP036436	p.D162	ENST00000344420.5	37	c.486	CCDS1728.1	2																																																																																			C2orf18	-	pfam_DUF914_euk,pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UCP036436	ENSG00000213699		0.672	SLC35F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf18	HGNC	protein_coding	OTTHUMT00000250187.2	18	0.00	0	C	NM_017877		26998495	26998495	+1	no_errors	ENST00000344420	ensembl	human	known	69_37n	silent	8	42.86	6	SNP	1.000	T
C2orf16	84226	genome.wustl.edu	37	2	27802520	27802520	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:27802520G>A	ENST00000408964.2	+	1	3132	c.3081G>A	c.(3079-3081)ctG>ctA	p.L1027L	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1027						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)					TTCCTGTCCTGGTAAAGTCAG	0.433																																						dbGAP											0													94.0	98.0	97.0					2																	27802520		2098	4246	6344	-	-	-	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.3081G>A	2.37:g.27802520G>A			B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	NULL	p.L1027	ENST00000408964.2	37	c.3081	CCDS42666.1	2																																																																																			C2orf16	-	NULL	ENSG00000221843		0.433	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	166	0.00	0	G	NM_032266		27802520	27802520	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	silent	140	10.83	17	SNP	0.000	A
C2orf71	388939	genome.wustl.edu	37	2	29296750	29296750	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:29296750C>T	ENST00000331664.5	-	1	377	c.378G>A	c.(376-378)ggG>ggA	p.G126G		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	126					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AAAAGTCTGCCCCTTGTGATC	0.468																																						dbGAP											0													252.0	239.0	243.0					2																	29296750		2008	4177	6185	-	-	-	SO:0001819	synonymous_variant	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.378G>A	2.37:g.29296750C>T				Silent	SNP	NULL	p.G126	ENST00000331664.5	37	c.378	CCDS42669.1	2																																																																																			C2orf71	-	NULL	ENSG00000179270		0.468	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	138	0.00	0	C	NM_001029883		29296750	29296750	-1	no_errors	ENST00000331664	ensembl	human	novel	69_37n	silent	148	11.90	20	SNP	0.000	T
C2orf49	79074	genome.wustl.edu	37	2	105959334	105959334	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:105959334G>A	ENST00000258457.2	+	3	525	c.296G>A	c.(295-297)aGa>aAa	p.R99K	C2orf49_ENST00000410049.1_Missense_Mutation_p.R99K|C2orf49_ENST00000437250.2_Missense_Mutation_p.R137K			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	99					embryonic morphogenesis (GO:0048598)	tRNA-splicing ligase complex (GO:0072669)				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						TTAAGGAAAAGACCCCTCATC	0.428																																						dbGAP											0													72.0	69.0	70.0					2																	105959334		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001310	CCDS2068.1, CCDS74550.1	2q12.2	2009-04-22			ENSG00000135974	ENSG00000135974			28772	protein-coding gene	gene with protein product	"""ashwin"""					12477932	Standard	NM_001286537		Approved	MGC5509, asw	uc002tcs.1	Q9BVC5	OTTHUMG00000130808	ENST00000258457.2:c.296G>A	2.37:g.105959334G>A	ENSP00000258457:p.Arg99Lys		B3KXN3|B4E2G9	Missense_Mutation	SNP	NULL	p.R99K	ENST00000258457.2	37	c.296	CCDS2068.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.084565	0.94100	.	.	ENSG00000135974	ENST00000258457;ENST00000437250;ENST00000410049	T;T;T	0.51071	0.72;0.72;0.72	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.68550	0.3013	M	0.64404	1.975	0.58432	D	0.99999	D;D	0.67145	0.99;0.996	D;D	0.75484	0.98;0.986	T	0.69687	-0.5078	10	0.87932	D	0	-23.7382	19.8863	0.96913	0.0:0.0:1.0:0.0	.	137;99	B4E2G9;Q9BVC5	.;ASHWN_HUMAN	K	99;137;99	ENSP00000258457:R99K;ENSP00000400208:R137K;ENSP00000386361:R99K	ENSP00000258457:R99K	R	+	2	0	C2orf49	105325766	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.477000	0.81069	2.688000	0.91661	0.650000	0.86243	AGA	C2orf49	-	NULL	ENSG00000135974		0.428	C2orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf49	HGNC	protein_coding	OTTHUMT00000253353.2	170	0.00	0	G	NM_024093		105959334	105959334	+1	no_errors	ENST00000258457	ensembl	human	known	69_37n	missense	188	17.18	39	SNP	1.000	A
C3orf58	205428	genome.wustl.edu	37	3	143708573	143708573	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:143708573C>T	ENST00000315691.3	+	3	1718	c.1183C>T	c.(1183-1185)Ctc>Ttc	p.L395F	C3orf58_ENST00000441925.2_Missense_Mutation_p.L157F|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.L186F	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	395					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGATGGCCGGCTCGAGGCCTT	0.502																																						dbGAP											0													92.0	94.0	94.0					3																	143708573		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1183C>T	3.37:g.143708573C>T	ENSP00000320081:p.Leu395Phe		B2RCF2|B7Z1W3	Missense_Mutation	SNP	NULL	p.L395F	ENST00000315691.3	37	c.1183	CCDS3130.1	3	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428053	0.62844	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.55413	0.52	5.91	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.71169	0.3308	M	0.72894	2.215	0.54753	D	0.999983	D;D	0.69078	0.992;0.997	D;D	0.78314	0.921;0.991	T	0.73655	-0.3914	10	0.72032	D	0.01	.	15.9597	0.79918	0.0:0.9256:0.0:0.0744	.	186;395	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	F	395;186;201;157	ENSP00000320081:L395F	ENSP00000320081:L395F	L	+	1	0	C3orf58	145191263	1.000000	0.71417	0.354000	0.25760	0.954000	0.61252	4.679000	0.61649	2.793000	0.96121	0.655000	0.94253	CTC	C3orf58	-	NULL	ENSG00000181744		0.502	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf58	HGNC	protein_coding	OTTHUMT00000355038.1	132	0.00	0	C	NM_173552		143708573	143708573	+1	no_errors	ENST00000315691	ensembl	human	known	69_37n	missense	125	21.88	35	SNP	0.965	T
C5	727	genome.wustl.edu	37	9	123794434	123794434	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:123794434G>A	ENST00000223642.1	-	6	653	c.624C>T	c.(622-624)gaC>gaT	p.D208D		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	208					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTGTTGAAAAGTCCTCTTTAT	0.299																																						dbGAP											0													97.0	102.0	100.0					9																	123794434		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.624C>T	9.37:g.123794434G>A			Q14CJ0|Q27I61	Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.D208	ENST00000223642.1	37	c.624	CCDS6826.1	9																																																																																			C5	-	pfam_A2M_N	ENSG00000106804		0.299	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	163	0.00	0	G	NM_001735		123794434	123794434	-1	no_errors	ENST00000223642	ensembl	human	known	69_37n	silent	116	19.44	28	SNP	1.000	A
C5orf34	375444	genome.wustl.edu	37	5	43494667	43494667	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:43494667G>A	ENST00000306862.2	-	7	1564	c.1189C>T	c.(1189-1191)Cca>Tca	p.P397S	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	397										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GGTCTATCTGGAGGAAGGTTA	0.328																																						dbGAP											0													95.0	96.0	96.0					5																	43494667		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1189C>T	5.37:g.43494667G>A	ENSP00000303490:p.Pro397Ser			Missense_Mutation	SNP	NULL	p.P397S	ENST00000306862.2	37	c.1189	CCDS3946.1	5	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026031	0.75390	.	.	ENSG00000172244	ENST00000306862	T	0.79845	-1.31	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.89128	0.6627	M	0.77616	2.38	0.45330	D	0.998328	D	0.64830	0.994	D	0.67231	0.95	D	0.90522	0.4489	10	0.87932	D	0	-12.6195	16.4301	0.83839	0.0:0.0:1.0:0.0	.	397	Q96MH7	CE034_HUMAN	S	397	ENSP00000303490:P397S	ENSP00000303490:P397S	P	-	1	0	C5orf34	43530424	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.750000	0.62162	2.482000	0.83794	0.561000	0.74099	CCA	C5orf34	-	NULL	ENSG00000172244		0.328	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	HGNC	protein_coding	OTTHUMT00000253843.1	160	0.00	0	G	NM_198566		43494667	43494667	-1	no_errors	ENST00000306862	ensembl	human	known	69_37n	missense	100	12.28	14	SNP	1.000	A
C6orf47	57827	genome.wustl.edu	37	6	31627049	31627049	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:31627049G>A	ENST00000375911.1	-	1	1500	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	226						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						AGGGCAGCCAGGAAGGACAGT	0.642																																						dbGAP											0													74.0	59.0	65.0					6																	31627049		1510	2709	4219	-	-	-	SO:0001819	synonymous_variant	0			AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.676C>T	6.37:g.31627049G>A			B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Silent	SNP	NULL	p.L226	ENST00000375911.1	37	c.676	CCDS34399.1	6																																																																																			C6orf47	-	NULL	ENSG00000204439		0.642	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf47	HGNC	protein_coding	OTTHUMT00000076324.1	47	0.00	0	G	NM_021184		31627049	31627049	-1	no_errors	ENST00000375911	ensembl	human	known	69_37n	silent	35	20.45	9	SNP	0.821	A
CAB39	51719	genome.wustl.edu	37	2	231624720	231624720	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:231624720C>T	ENST00000258418.5	+	2	433	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	CAB39_ENST00000410084.3_Missense_Mutation_p.P2S|CAB39_ENST00000409788.3_Missense_Mutation_p.P2S	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	2					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|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 protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TGCCGTCATGCCGTTCCCGTT	0.512																																						dbGAP											0													70.0	73.0	72.0					2																	231624720		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.4C>T	2.37:g.231624720C>T	ENSP00000258418:p.Pro2Ser		A8K8L7	Missense_Mutation	SNP	pfam_Mo25,superfamily_ARM-type_fold	p.P2S	ENST00000258418.5	37	c.4	CCDS2478.1	2	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089868	0.55968	.	.	ENSG00000135932	ENST00000258418;ENST00000409788;ENST00000410084	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	L	0.27053	0.805	0.80722	D	1	P	0.44195	0.828	P	0.53102	0.718	T	0.43669	-0.9377	9	0.05436	T	0.98	.	18.1573	0.89696	0.0:1.0:0.0:0.0	.	2	Q9Y376	CAB39_HUMAN	S	2	.	ENSP00000258418:P2S	P	+	1	0	CAB39	231332964	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.391000	0.79828	2.894000	0.99253	0.655000	0.94253	CCG	CAB39	-	pfam_Mo25	ENSG00000135932		0.512	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39	HGNC	protein_coding	OTTHUMT00000256955.2	82	0.00	0	C	NM_016289		231624720	231624720	+1	no_errors	ENST00000258418	ensembl	human	known	69_37n	missense	64	14.47	11	SNP	1.000	T
CAB39	51719	genome.wustl.edu	37	2	231624758	231624758	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:231624758C>T	ENST00000258418.5	+	2	471	c.42C>T	c.(40-42)gaC>gaT	p.D14D	CAB39_ENST00000410084.3_Silent_p.D14D|CAB39_ENST00000409788.3_Silent_p.D14D	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	14					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cellular hypotonic response (GO:0071476)|insulin receptor signaling pathway (GO:0008286)|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 protein serine/threonine kinase activity (GO:0071902)|protein heterooligomerization (GO:0051291)|signal transduction by phosphorylation (GO:0023014)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activator activity (GO:0043539)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CTCCAGCAGACATTGTGAAGA	0.473																																						dbGAP											0													92.0	95.0	94.0					2																	231624758		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113536	CCDS2478.1	2q37.1	2008-02-05			ENSG00000135932	ENSG00000135932			20292	protein-coding gene	gene with protein product		612174					Standard	NM_016289		Approved	CGI-66, MO25	uc002vqx.3	Q9Y376	OTTHUMG00000133220	ENST00000258418.5:c.42C>T	2.37:g.231624758C>T			A8K8L7	Silent	SNP	pfam_Mo25,superfamily_ARM-type_fold	p.D14	ENST00000258418.5	37	c.42	CCDS2478.1	2																																																																																			CAB39	-	pfam_Mo25,superfamily_ARM-type_fold	ENSG00000135932		0.473	CAB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39	HGNC	protein_coding	OTTHUMT00000256955.2	109	0.00	0	C	NM_016289		231624758	231624758	+1	no_errors	ENST00000258418	ensembl	human	known	69_37n	silent	97	14.16	16	SNP	1.000	T
CACHD1	57685	genome.wustl.edu	37	1	65095064	65095064	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:65095064C>T	ENST00000371073.2	+	5	544	c.544C>T	c.(544-546)Cct>Tct	p.P182S	CACHD1_ENST00000290039.5_Missense_Mutation_p.P131S|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	182					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						GAAATCCAACCCTGGAATTAA	0.458																																						dbGAP											0													150.0	137.0	141.0					1																	65095064		1870	4117	5987	-	-	-	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.544C>T	1.37:g.65095064C>T	ENSP00000360113:p.Pro182Ser		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.P182S	ENST00000371073.2	37	c.544		1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.366145	0.61513	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.27557	1.66;1.67	5.75	5.75	0.90469	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33000	0.0848	N	0.20574	0.59	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	T	0.07214	-1.0784	10	0.33141	T	0.24	-16.8353	19.9598	0.97242	0.0:1.0:0.0:0.0	.	182	Q5VU97	CAHD1_HUMAN	S	182;131	ENSP00000360113:P182S;ENSP00000290039:P131S	ENSP00000290039:P131S	P	+	1	0	CACHD1	64867652	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.716000	0.92895	0.655000	0.94253	CCT	CACHD1	-	pfam_VWA_N	ENSG00000158966		0.458	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		372	0.00	0	C	NM_020925		65095064	65095064	+1	no_errors	ENST00000371073	ensembl	human	known	69_37n	missense	222	31.48	102	SNP	1.000	T
CACNA1C	775	genome.wustl.edu	37	12	2763059	2763059	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:2763059G>A	ENST00000347598.4	+	35	4277	c.4277G>A	c.(4276-4278)gGg>gAg	p.G1426E	CACNA1C_ENST00000399637.1_Missense_Mutation_p.G1378E|CACNA1C_ENST00000399606.1_Missense_Mutation_p.G1398E|CACNA1C_ENST00000406454.3_Missense_Mutation_p.G1378E|CACNA1C_ENST00000399591.1_Missense_Mutation_p.G1367E|CACNA1C_ENST00000399655.1_Missense_Mutation_p.G1378E|CACNA1C_ENST00000399638.1_Missense_Mutation_p.G1406E|CACNA1C_ENST00000399644.1_Missense_Mutation_p.G1378E|CACNA1C_ENST00000399621.1_Missense_Mutation_p.G1378E|CACNA1C_ENST00000344100.3_Missense_Mutation_p.G1400E|CACNA1C_ENST00000399603.1_Missense_Mutation_p.G1378E|CACNA1C_ENST00000402845.3_Missense_Mutation_p.G1378E|CACNA1C_ENST00000399629.1_Missense_Mutation_p.G1395E|CACNA1C_ENST00000399617.1_Missense_Mutation_p.G1378E|CACNA1C_ENST00000399649.1_Missense_Mutation_p.G1365E|CACNA1C_ENST00000399597.1_Missense_Mutation_p.G1378E|CACNA1C_ENST00000399641.1_Missense_Mutation_p.G1378E|CACNA1C_ENST00000335762.5_Missense_Mutation_p.G1403E|CACNA1C_ENST00000327702.7_Missense_Mutation_p.G1378E|CACNA1C_ENST00000399634.1_Missense_Mutation_p.G1378E|CACNA1C_ENST00000399595.1_Missense_Mutation_p.G1367E|CACNA1C_ENST00000399601.1_Missense_Mutation_p.G1378E	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1426					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)	GCGGTGATCGGGATGCAGGTA	0.622																																						dbGAP											0													71.0	74.0	73.0					12																	2763059		2022	4196	6218	-	-	-	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.4277G>A	12.37:g.2763059G>A	ENSP00000266376:p.Gly1426Glu		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.G1378E	ENST00000347598.4	37	c.4133	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985391	0.93044	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97642	-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47;-4.47	4.55	4.55	0.56014	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99321	0.9762	H	0.99838	4.83	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.98068	1.0397	10	0.87932	D	0	.	17.8601	0.88778	0.0:0.0:1.0:0.0	.	69;1400;1375;1426;1378;1378;1378;1395;1406;1378;1398;1378;1338;1426;1378;1378;1378;1367;1365;1367;1367;1378;1378;1378;1378	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;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	E	1403;1378;1378;1406;1378;1378;1378;1367;1378;1426;1398;1378;1400;1395;1378;1365;1378;1378;1378;1378;1378;1367;1208	ENSP00000336982:G1403E;ENSP00000382563:G1378E;ENSP00000382552:G1378E;ENSP00000382547:G1406E;ENSP00000382506:G1378E;ENSP00000382530:G1378E;ENSP00000382546:G1378E;ENSP00000382500:G1367E;ENSP00000382549:G1378E;ENSP00000266376:G1426E;ENSP00000382515:G1398E;ENSP00000382510:G1378E;ENSP00000341092:G1400E;ENSP00000382537:G1395E;ENSP00000329877:G1378E;ENSP00000382557:G1365E;ENSP00000385724:G1378E;ENSP00000382512:G1378E;ENSP00000382542:G1378E;ENSP00000382526:G1378E;ENSP00000385896:G1378E;ENSP00000382504:G1367E	ENSP00000323129:G1208E	G	+	2	0	CACNA1C	2633320	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	9.805000	0.99149	2.538000	0.85594	0.555000	0.69702	GGG	CACNA1C	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000151067		0.622	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	26	0.00	0	G	NM_000719		2763059	2763059	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	17	34.62	9	SNP	1.000	A
CACNA1E	777	genome.wustl.edu	37	1	181452987	181452987	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:181452987C>T	ENST00000367573.2	+	1	107	c.107C>T	c.(106-108)gCg>gTg	p.A36V	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A36V|CACNA1E_ENST00000357570.5_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A36V|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A36V|CACNA1E_ENST00000358338.5_5'UTR	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	36					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						TCGGGGCAGGCGGCCGCCTAC	0.662																																						dbGAP											0													47.0	55.0	52.0					1																	181452987		1880	4083	5963	-	-	-	SO:0001583	missense	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.107C>T	1.37:g.181452987C>T	ENSP00000356545:p.Ala36Val		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.A36V	ENST00000367573.2	37	c.107	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005388	0.54254	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000360108;ENST00000367573	D;D;D;D;D	0.97209	-4.29;-3.89;-3.87;-3.87;-3.89	5.67	4.71	0.59529	.	0.265291	0.29932	N	0.010833	D	0.90106	0.6909	N	0.08118	0	0.80722	D	1	P	0.35700	0.516	B	0.25759	0.063	D	0.90139	0.4212	10	0.44086	T	0.13	.	12.4462	0.55651	0.28:0.72:0.0:0.0	.	36	Q15878-3	.	V	36	ENSP00000432038:A36V;ENSP00000356542:A36V;ENSP00000434814:A36V;ENSP00000353222:A36V;ENSP00000356545:A36V	ENSP00000353222:A36V	A	+	2	0	CACNA1E	179719610	0.911000	0.30947	1.000000	0.80357	0.992000	0.81027	2.764000	0.47613	2.667000	0.90743	0.561000	0.74099	GCG	CACNA1E	-	NULL	ENSG00000198216		0.662	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	96	0.00	0	C	NM_000721		181452987	181452987	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	65	24.42	21	SNP	0.995	T
CAMK1	8536	genome.wustl.edu	37	3	9803418	9803418	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:9803418G>A	ENST00000256460.3	-	6	630	c.453C>T	c.(451-453)agC>agT	p.S151S	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	151	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CTTCATCCAGGCTGTAGTACA	0.557																																						dbGAP											0													63.0	63.0	63.0					3																	9803418		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.453C>T	3.37:g.9803418G>A			Q3KPF6	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.S151	ENST00000256460.3	37	c.453	CCDS2582.1	3																																																																																			CAMK1	-	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	ENSG00000134072		0.557	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK1	HGNC	protein_coding	OTTHUMT00000250206.1	68	0.00	0	G	NM_003656		9803418	9803418	-1	no_errors	ENST00000256460	ensembl	human	known	69_37n	silent	76	14.44	13	SNP	1.000	A
CACNA2D2	9254	genome.wustl.edu	37	3	50421629	50421629	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:50421629C>T	ENST00000479441.1	-	6	649	c.650G>A	c.(649-651)gGc>gAc	p.G217D	CACNA2D2_ENST00000424201.2_Missense_Mutation_p.G217D|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.G217D|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.G148D|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.G217D|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.G217D|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.G217D|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.G217D			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	217					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ACACTCACAGCCTTTGTAGAT	0.577																																						dbGAP											0													269.0	245.0	253.0					3																	50421629		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.650G>A	3.37:g.50421629C>T	ENSP00000418081:p.Gly217Asp		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G217D	ENST00000479441.1	37	c.650	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.409412	0.96072	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.05855	3.39;3.38;3.38;3.39;3.39;3.38;3.38;3.39	5.53	5.53	0.82687	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.28896	0.0717	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.01001	-1.1485	10	0.72032	D	0.01	-23.6748	19.4635	0.94929	0.0:1.0:0.0:0.0	.	217;217	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	D	217;217;217;148;217;217;217;217	ENSP00000407393:G217D;ENSP00000404631:G217D;ENSP00000266039:G217D;ENSP00000354228:G148D;ENSP00000390526:G217D;ENSP00000378519:G217D;ENSP00000390329:G217D;ENSP00000418081:G217D	ENSP00000266039:G217D	G	-	2	0	CACNA2D2	50396633	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.212000	0.77941	2.599000	0.87857	0.563000	0.77884	GGC	CACNA2D2	-	pfam_VWA_N	ENSG00000007402		0.577	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	57	0.00	0	C	NM_006030		50421629	50421629	-1	no_errors	ENST00000435965	ensembl	human	known	69_37n	missense	116	13.43	18	SNP	1.000	T
CAMKK1	84254	genome.wustl.edu	37	17	3776721	3776721	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:3776721G>A	ENST00000348335.2	-	11	1180	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	CAMKK1_ENST00000381769.2_Silent_p.Y371Y|CAMKK1_ENST00000158166.5_Silent_p.Y382Y|CAMKK1_ENST00000381771.2_Silent_p.Y382Y	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	344	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AGACAAAGCAGTACAACGTGA	0.602																																						dbGAP											0													186.0	163.0	170.0					17																	3776721		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1032C>T	17.37:g.3776721G>A			Q9BQH3	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.Y382	ENST00000348335.2	37	c.1146	CCDS11038.1	17																																																																																			CAMKK1	-	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	ENSG00000004660		0.602	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMKK1	HGNC	protein_coding	OTTHUMT00000207456.1	155	0.00	0	G	NM_032294, NM_172206, NM_172207		3776721	3776721	-1	no_errors	ENST00000381771	ensembl	human	known	69_37n	silent	121	12.32	17	SNP	1.000	A
CAMSAP1	157922	genome.wustl.edu	37	9	138714957	138714957	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:138714957G>A	ENST00000389532.4	-	11	1614	c.1550C>T	c.(1549-1551)cCa>cTa	p.P517L	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P239L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P528L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	517					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CGTGGGGTGTGGCTGGTTCTG	0.547																																						dbGAP											0													187.0	179.0	182.0					9																	138714957		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1550C>T	9.37:g.138714957G>A	ENSP00000374183:p.Pro517Leu		A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.P528L	ENST00000389532.4	37	c.1583	CCDS35176.2	9	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455089	0.84209	.	.	ENSG00000130559	ENST00000389532;ENST00000312405;ENST00000409386	T;T;T	0.16196	2.37;2.36;2.37	5.2	5.2	0.72013	.	0.121049	0.56097	D	0.000030	T	0.30479	0.0766	L	0.55481	1.735	0.58432	D	0.999999	P;P	0.48407	0.749;0.91	B;P	0.50791	0.282;0.65	T	0.02546	-1.1143	10	0.87932	D	0	-4.7589	18.7361	0.91755	0.0:0.0:1.0:0.0	.	517;528	Q5T5Y3;Q5T5Y3-3	CAMP1_HUMAN;.	L	517;239;528	ENSP00000374183:P517L;ENSP00000312463:P239L;ENSP00000386420:P528L	ENSP00000312463:P239L	P	-	2	0	CAMSAP1	137854778	1.000000	0.71417	0.891000	0.34965	0.694000	0.40290	9.277000	0.95755	2.437000	0.82529	0.655000	0.94253	CCA	CAMSAP1	-	NULL	ENSG00000130559		0.547	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	94	0.00	0	G	XM_351857		138714957	138714957	-1	no_errors	ENST00000409386	ensembl	human	known	69_37n	missense	111	57.47	150	SNP	1.000	A
CAPG	822	genome.wustl.edu	37	2	85629046	85629046	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:85629046C>T	ENST00000409921.1	-	3	124	c.58G>A	c.(58-60)Ggc>Agc	p.G20S	CAPG_ENST00000263867.4_Missense_Mutation_p.G20S|CAPG_ENST00000409670.1_Missense_Mutation_p.G20S|CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000409724.1_Missense_Mutation_p.G20S			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						ACATGCAGGCCTGGATCCTGC	0.627																																						dbGAP											0													72.0	76.0	75.0					2																	85629046		2203	4300	6503	-	-	-	SO:0001583	missense	0			M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.58G>A	2.37:g.85629046C>T	ENSP00000387063:p.Gly20Ser		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.G20S	ENST00000409921.1	37	c.58	CCDS58715.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079492	0.76528	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000409921;ENST00000409670;ENST00000409724;ENST00000439385;ENST00000449030;ENST00000447219;ENST00000409275	T;T;T;T;T;T;T;T	0.19105	2.17;2.17;2.17;2.17;2.17;2.17;2.17;2.17	5.69	4.81	0.61882	.	0.046330	0.85682	D	0.000000	T	0.54464	0.1860	M	0.92970	3.365	0.58432	D	0.999998	P;D	0.76494	0.904;0.999	B;D	0.85130	0.42;0.997	T	0.65224	-0.6220	10	0.87932	D	0	.	12.1264	0.53919	0.1713:0.8287:0.0:0.0	.	20;20	B8ZZS7;P40121	.;CAPG_HUMAN	S	20	ENSP00000263867:G20S;ENSP00000387063:G20S;ENSP00000386315:G20S;ENSP00000386965:G20S;ENSP00000391923:G20S;ENSP00000403330:G20S;ENSP00000398232:G20S;ENSP00000386596:G20S	ENSP00000263867:G20S	G	-	1	0	CAPG	85482557	1.000000	0.71417	0.666000	0.29783	0.310000	0.27922	7.167000	0.77562	1.396000	0.46663	0.563000	0.77884	GGC	CAPG	-	smart_Gelsolin	ENSG00000042493		0.627	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	CAPG	HGNC	protein_coding	OTTHUMT00000329383.1	73	0.00	0	C	NM_001747		85629046	85629046	-1	no_errors	ENST00000263867	ensembl	human	known	69_37n	missense	54	10.00	6	SNP	0.988	T
CASP9	842	genome.wustl.edu	37	1	15832528	15832528	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:15832528G>A	ENST00000333868.5	-	5	771	c.677C>T	c.(676-678)gCt>gTt	p.A226V	CASP9_ENST00000375890.4_Missense_Mutation_p.A143V|CASP9_ENST00000348549.5_Intron|CASP9_ENST00000546424.1_Missense_Mutation_p.A226V	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	226					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		GCAGTCCAGAGCACCGTGGTC	0.597																																						dbGAP											0													82.0	79.0	80.0					1																	15832528		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.677C>T	1.37:g.15832528G>A	ENSP00000330237:p.Ala226Val		B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	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.A226V	ENST00000333868.5	37	c.677	CCDS158.1	1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861026	0.71949	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000375874;ENST00000375890;ENST00000447522	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.89	4.96	0.65561	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);Peptidase C14, ICE, catalytic subunit p20 (1);	0.592946	0.19948	N	0.102496	T	0.34193	0.0889	L	0.55743	1.74	0.09310	N	1	P;P	0.51057	0.909;0.941	P;P	0.60609	0.877;0.66	T	0.12785	-1.0534	10	0.42905	T	0.14	.	7.6414	0.28296	0.0815:0.0:0.7535:0.165	.	226;226	P55211;F8VVS7	CASP9_HUMAN;.	V	226;226;70;143;143	ENSP00000449584:A226V;ENSP00000330237:A226V;ENSP00000365051:A143V;ENSP00000396540:A143V	ENSP00000330237:A226V	A	-	2	0	CASP9	15705115	0.005000	0.15991	0.012000	0.15200	0.317000	0.28152	1.668000	0.37481	1.431000	0.47355	0.655000	0.94253	GCT	CASP9	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20	ENSG00000132906		0.597	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP9	HGNC	protein_coding	OTTHUMT00000006438.1	61	0.00	0	G	NM_032996		15832528	15832528	-1	no_errors	ENST00000333868	ensembl	human	known	69_37n	missense	45	10.00	5	SNP	0.001	A
CATSPER2	117155	genome.wustl.edu	37	15	43931841	43931841	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:43931841C>T	ENST00000321596.5	-	6	916	c.717G>A	c.(715-717)aaG>aaA	p.K239K	CATSPER2_ENST00000381761.1_Splice_Site_p.K245K|CATSPER2_ENST00000396879.1_Splice_Site_p.K239K|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000355438.2_Splice_Site_p.K239K|CATSPER2_ENST00000354127.4_Splice_Site_p.K239K|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	239					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTCAAATCACCTTGAGGGCCC	0.478																																						dbGAP											0													89.0	102.0	97.0					15																	43931841		2195	4293	6488	-	-	-	SO:0001630	splice_region_variant	0			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.717+1G>A	15.37:g.43931841C>T			Q8NHT9|Q96P54|Q96P55	Silent	SNP	pfam_Ion_trans_dom	p.K239	ENST00000321596.5	37	c.717	CCDS10099.1	15																																																																																			CATSPER2	-	pfam_Ion_trans_dom	ENSG00000166762		0.478	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	258	0.00	0	C	NM_054020	Silent	43931841	43931841	-1	no_errors	ENST00000299989	ensembl	human	known	69_37n	silent	314	20.85	83	SNP	1.000	T
CATSPERB	79820	genome.wustl.edu	37	14	92102889	92102889	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:92102889G>A	ENST00000256343.3	-	17	1778	c.1622C>T	c.(1621-1623)cCa>cTa	p.P541L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	541					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GGTGTGCTGTGGGGCAAGCGC	0.373																																						dbGAP											0													101.0	94.0	97.0					14																	92102889		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1622C>T	14.37:g.92102889G>A	ENSP00000256343:p.Pro541Leu		A0AV51	Missense_Mutation	SNP	superfamily_Neuraminidase	p.P541L	ENST00000256343.3	37	c.1622	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816922	0.32145	.	.	ENSG00000133962	ENST00000256343	T	0.44482	0.92	4.63	2.8	0.32819	.	0.385095	0.22396	N	0.060613	T	0.33469	0.0864	M	0.62723	1.935	0.39300	D	0.964884	P	0.35107	0.484	B	0.35655	0.207	T	0.10706	-1.0618	10	0.09338	T	0.73	-3.4335	6.6268	0.22835	0.2127:0.0:0.7873:0.0	.	541	Q9H7T0	CTSRB_HUMAN	L	541	ENSP00000256343:P541L	ENSP00000256343:P541L	P	-	2	0	CATSPERB	91172642	0.814000	0.29104	0.157000	0.22605	0.294000	0.27393	1.830000	0.39131	0.583000	0.29574	0.491000	0.48974	CCA	CATSPERB	-	NULL	ENSG00000133962		0.373	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	130	0.00	0	G	NM_024764		92102889	92102889	-1	no_errors	ENST00000256343	ensembl	human	known	69_37n	missense	62	17.33	13	SNP	0.785	A
CBLB	868	genome.wustl.edu	37	3	105377845	105377845	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:105377845G>A	ENST00000264122.4	-	19	3239	c.2918C>T	c.(2917-2919)cCt>cTt	p.P973L	CBLB_ENST00000394027.3_Missense_Mutation_p.P951L|CBLB_ENST00000407712.1_Missense_Mutation_p.P188L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	973					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						TACTGGAGGAGGGAAGGCAAA	0.463			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													108.0	104.0	105.0					3																	105377845		2203	4300	6503	-	-	-	SO:0001583	missense	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.2918C>T	3.37:g.105377845G>A	ENSP00000264122:p.Pro973Leu		A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	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.P973L	ENST00000264122.4	37	c.2918	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383260	0.61845	.	.	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000407712;ENST00000394027	T;D;T;D	0.82619	-0.96;-1.61;-0.95;-1.63	5.75	4.87	0.63330	.	0.091096	0.48767	D	0.000170	D	0.85004	0.5598	N	0.22421	0.69	0.80722	D	1	B;D;B	0.76494	0.0;0.999;0.005	B;D;B	0.78314	0.001;0.991;0.004	D	0.87180	0.2227	10	0.87932	D	0	-6.8781	14.5091	0.67772	0.0702:0.0:0.9298:0.0	.	951;973;951	E7ENW2;Q13191;B4DYP3	.;CBLB_HUMAN;.	L	312;973;188;951	ENSP00000377598:P312L;ENSP00000264122:P973L;ENSP00000384170:P188L;ENSP00000377595:P951L	ENSP00000264122:P973L	P	-	2	0	CBLB	106860535	1.000000	0.71417	0.981000	0.43875	0.782000	0.44232	5.081000	0.64444	1.410000	0.46936	0.655000	0.94253	CCT	CBLB	-	superfamily_UBA-like	ENSG00000114423		0.463	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	194	0.00	0	G	NM_170662		105377845	105377845	-1	no_errors	ENST00000264122	ensembl	human	known	69_37n	missense	176	17.76	38	SNP	1.000	A
CBX2	84733	genome.wustl.edu	37	17	77758104	77758104	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:77758104C>T	ENST00000310942.4	+	5	966	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	288					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGCCTCGGGCTGGACCTGAA	0.637																																						dbGAP											0													30.0	31.0	31.0					17																	77758104		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.862C>T	17.37:g.77758104C>T			Q0VDA5|Q9BTB1	Silent	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.L288	ENST00000310942.4	37	c.862	CCDS32757.1	17																																																																																			CBX2	-	NULL	ENSG00000173894		0.637	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX2	HGNC	protein_coding	OTTHUMT00000437040.1	19	0.00	0	C	NM_032647		77758104	77758104	+1	no_errors	ENST00000310942	ensembl	human	known	69_37n	silent	7	42.86	6	SNP	1.000	T
CCDC13	152206	genome.wustl.edu	37	3	42777325	42777325	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:42777325C>T	ENST00000310232.6	-	10	1328	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	415										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GTTGCTGGTCCAGGTGGTGCT	0.632																																						dbGAP											0													92.0	72.0	79.0					3																	42777325		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1245G>A	3.37:g.42777325C>T				Silent	SNP	superfamily_Prefoldin	p.L415	ENST00000310232.6	37	c.1245	CCDS2705.1	3																																																																																			CCDC13	-	NULL	ENSG00000244607		0.632	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	103	0.00	0	C	NM_144719		42777325	42777325	-1	no_errors	ENST00000310232	ensembl	human	known	69_37n	silent	89	17.59	19	SNP	1.000	T
CCDC151	115948	genome.wustl.edu	37	19	11532428	11532428	+	Missense_Mutation	SNP	C	C	T	rs368706462		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:11532428C>T	ENST00000356392.4	-	11	1594	c.1507G>A	c.(1507-1509)Gtg>Atg	p.V503M	CCDC151_ENST00000591179.1_Missense_Mutation_p.V443M|CCDC151_ENST00000545100.1_Missense_Mutation_p.V449M|RGL3_ENST00000393423.3_5'Flank|CCDC151_ENST00000586836.1_Missense_Mutation_p.V312M|RGL3_ENST00000380456.3_5'Flank	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	503										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TTTTCCTCCACGAGGCCCAGC	0.647																																						dbGAP											0													69.0	74.0	73.0					19																	11532428		1984	4152	6136	-	-	-	SO:0001583	missense	0				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1507G>A	19.37:g.11532428C>T	ENSP00000348757:p.Val503Met		B4DXT0|Q96CG5	Missense_Mutation	SNP	NULL	p.V503M	ENST00000356392.4	37	c.1507	CCDS42501.1	19	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110106	0.56398	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	T;T	0.15718	2.4;2.6	3.94	2.83	0.33086	.	0.743799	0.12331	N	0.478332	T	0.31606	0.0802	L	0.60455	1.87	0.22156	N	0.999323	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71414	0.973;0.973;0.973	T	0.06285	-1.0835	10	0.51188	T	0.08	-32.6569	5.7312	0.18040	0.0:0.8458:0.0:0.1542	.	503;503;483	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	M	449;503;482	ENSP00000442987:V449M;ENSP00000348757:V503M	ENSP00000348757:V503M	V	-	1	0	CCDC151	11393428	0.876000	0.30132	0.904000	0.35570	0.695000	0.40330	1.958000	0.40402	2.043000	0.60533	0.561000	0.74099	GTG	CCDC151	-	NULL	ENSG00000198003		0.647	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	HGNC	protein_coding	OTTHUMT00000458800.1	16	0.00	0	C	NM_145045		11532428	11532428	-1	no_errors	ENST00000356392	ensembl	human	known	69_37n	missense	6	57.14	8	SNP	0.722	T
CCDC28B	79140	genome.wustl.edu	37	1	32667638	32667638	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:32667638C>T	ENST00000373602.5	+	2	449	c.102C>T	c.(100-102)agC>agT	p.S34S	RP4-622L5.7_ENST00000373604.4_RNA|CCDC28B_ENST00000421922.2_Silent_p.S34S|CCDC28B_ENST00000483009.1_3'UTR	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	34					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCAGCCACAGCGGCTCCTTGG	0.617																																						dbGAP											0													37.0	43.0	41.0					1																	32667638		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.102C>T	1.37:g.32667638C>T			A8K789|Q8TBV8	Silent	SNP	NULL	p.S34	ENST00000373602.5	37	c.102	CCDS354.2	1																																																																																			CCDC28B	-	NULL	ENSG00000160050		0.617	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28B	HGNC	protein_coding	OTTHUMT00000015723.4	34	0.00	0	C	NM_024296		32667638	32667638	+1	no_errors	ENST00000373602	ensembl	human	known	69_37n	silent	19	31.03	9	SNP	0.800	T
CCDC36	339834	genome.wustl.edu	37	3	49294420	49294420	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:49294420C>T	ENST00000438782.1	+	8	1726	c.1490C>T	c.(1489-1491)gCt>gTt	p.A497V	CCDC36_ENST00000452691.2_Missense_Mutation_p.A497V|CCDC36_ENST00000296449.5_Missense_Mutation_p.A497V			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	497										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)		GAACCCCGTGCTCAGCCTCTG	0.532																																						dbGAP											0													130.0	148.0	142.0					3																	49294420		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.1490C>T	3.37:g.49294420C>T	ENSP00000391788:p.Ala497Val		C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	NULL	p.A497V	ENST00000438782.1	37	c.1490	CCDS33755.2	3	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870505	0.33069	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.49139	0.79;0.79;0.79	3.81	-0.754	0.11065	.	1.317820	0.05238	N	0.511644	T	0.29684	0.0741	N	0.24115	0.695	0.09310	N	1	B	0.22909	0.077	B	0.23275	0.045	T	0.20273	-1.0280	10	0.37606	T	0.19	2.6148	1.8676	0.03201	0.3771:0.3482:0.1654:0.1094	.	497	Q8IYA8	CCD36_HUMAN	V	497;497;497;477	ENSP00000296449:A497V;ENSP00000391788:A497V;ENSP00000407837:A497V	ENSP00000296449:A497V	A	+	2	0	CCDC36	49269424	0.000000	0.05858	0.003000	0.11579	0.147000	0.21601	-0.132000	0.10467	0.035000	0.15519	0.561000	0.74099	GCT	CCDC36	-	NULL	ENSG00000173421		0.532	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC36	HGNC	protein_coding	OTTHUMT00000342332.1	289	0.00	0	C	NM_178173		49294420	49294420	+1	no_errors	ENST00000296449	ensembl	human	known	69_37n	missense	278	13.66	44	SNP	0.001	T
CCDC63	160762	genome.wustl.edu	37	12	111342486	111342486	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:111342486C>T	ENST00000308208.5	+	11	1679	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	CCDC63_ENST00000545036.1_Silent_p.P439P|CCDC63_ENST00000552694.1_Silent_p.P400P	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	479								p.P479P(1)		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						TCCCGCCACCCTTCATCAACC	0.597																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											75.0	70.0	72.0					12																	111342486		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.1437C>T	12.37:g.111342486C>T			B4DY03|Q0P603|Q6P2E1	Silent	SNP	NULL	p.P479	ENST00000308208.5	37	c.1437	CCDS9151.1	12																																																																																			CCDC63	-	NULL	ENSG00000173093		0.597	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	83	0.00	0	C	NM_152591		111342486	111342486	+1	no_errors	ENST00000308208	ensembl	human	known	69_37n	silent	108	27.52	41	SNP	0.854	T
CCDC88C	440193	genome.wustl.edu	37	14	91780071	91780071	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:91780071G>A	ENST00000389857.6	-	15	2175	c.2089C>T	c.(2089-2091)Cgt>Tgt	p.R697C		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	697					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTGTTGTCACGCTCCAGGCCC	0.612																																						dbGAP											0													39.0	40.0	40.0					14																	91780071		2141	4248	6389	-	-	-	SO:0001583	missense	0				CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.2089C>T	14.37:g.91780071G>A	ENSP00000374507:p.Arg697Cys		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.R697C	ENST00000389857.6	37	c.2089	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989846	0.54041	.	.	ENSG00000015133	ENST00000389857	T	0.15139	2.45	5.15	3.17	0.36434	.	1.079420	0.07378	U	0.887039	T	0.29914	0.0748	L	0.51422	1.61	0.49483	D	0.99979	D	0.65815	0.995	P	0.52343	0.696	T	0.05903	-1.0857	10	0.72032	D	0.01	-4.8428	13.2337	0.59957	0.0:0.0:0.44:0.56	.	697	Q9P219	DAPLE_HUMAN	C	697	ENSP00000374507:R697C	ENSP00000374507:R697C	R	-	1	0	CCDC88C	90849824	0.997000	0.39634	0.831000	0.32960	0.818000	0.46254	2.808000	0.47963	1.104000	0.41587	0.561000	0.74099	CGT	CCDC88C	-	NULL	ENSG00000015133		0.612	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	56	0.00	0	G	XM_029353		91780071	91780071	-1	no_errors	ENST00000389857	ensembl	human	known	69_37n	missense	58	31.76	27	SNP	0.657	A
CCND2	894	genome.wustl.edu	37	12	4388034	4388034	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:4388034C>T	ENST00000261254.3	+	3	789	c.520C>T	c.(520-522)Ctg>Ttg	p.L174L	CCND2_ENST00000541542.1_3'UTR|RP11-264F23.3_ENST00000539135.1_RNA	NM_001759.3	NP_001750.1	P30279	CCND2_HUMAN	cyclin D2	174					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GCGGGAGAAGCTGTCTCTGAT	0.572			T	IGL@	"""NHL,CLL"""																																	dbGAP		Dom	yes		12	12p13	894	cyclin D2		L	0													70.0	65.0	67.0					12																	4388034		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF518005	CCDS8524.1	12p13	2008-08-04			ENSG00000118971	ENSG00000118971			1583	protein-coding gene	gene with protein product	"""G1/S-specific cyclin D2"""	123833				1386335	Standard	NM_001759		Approved		uc001qmo.3	P30279	OTTHUMG00000168123	ENST00000261254.3:c.520C>T	12.37:g.4388034C>T			A8K531|Q13955|Q5U035	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like	p.A89V	ENST00000261254.3	37	c.266	CCDS8524.1	12	.	.	.	.	.	.	.	.	.	.	C	2.455	-0.325519	0.05350	.	.	ENSG00000118971	ENST00000536537	.	.	.	4.79	3.84	0.44239	.	.	.	.	.	T	0.55049	0.1896	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49826	-0.8898	4	.	.	.	.	6.1072	0.20079	0.0:0.6378:0.0:0.3622	.	.	.	.	V	89	.	.	A	+	2	0	CCND2	4258295	0.995000	0.38212	0.876000	0.34364	0.264000	0.26372	0.430000	0.21428	0.841000	0.35020	0.561000	0.74099	GCT	CCND2	-	superfamily_Cyclin-like	ENSG00000118971		0.572	CCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND2	HGNC	protein_coding	OTTHUMT00000398287.1	46	0.00	0	C	NM_001759		4388034	4388034	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000536537	ensembl	human	putative	69_37n	missense	49	16.95	10	SNP	1.000	T
CCNE2	9134	genome.wustl.edu	37	8	95902673	95902673	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:95902673C>T	ENST00000520509.1	-	6	675	c.423G>A	c.(421-423)atG>atA	p.M141I	CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Missense_Mutation_p.M141I|CCNE2_ENST00000308108.4_Missense_Mutation_p.M141I			O96020	CCNE2_HUMAN	cyclin E2	141					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GTATGGACCTCATCTGTGGTT	0.358																																						dbGAP											0													235.0	236.0	236.0					8																	95902673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.423G>A	8.37:g.95902673C>T	ENSP00000429089:p.Met141Ile		O95439	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.M141I	ENST00000520509.1	37	c.423	CCDS6264.1	8	.	.	.	.	.	.	.	.	.	.	C	34	5.355277	0.95854	.	.	ENSG00000175305	ENST00000520509;ENST00000308108;ENST00000542725;ENST00000396133	T;T;T	0.14144	2.53;2.53;2.53	5.69	5.69	0.88448	Cyclin, N-terminal (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	T	0.56572	0.1994	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.91635	0.999;0.995	T	0.72944	-0.4138	10	0.87932	D	0	.	19.8149	0.96562	0.0:1.0:0.0:0.0	.	141;141	Q8WUE3;O96020	.;CCNE2_HUMAN	I	141;141;33;141	ENSP00000429089:M141I;ENSP00000309181:M141I;ENSP00000379437:M141I	ENSP00000309181:M141I	M	-	3	0	CCNE2	95971849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.722000	0.84778	2.679000	0.91253	0.591000	0.81541	ATG	CCNE2	-	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E	ENSG00000175305		0.358	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNE2	HGNC	protein_coding	OTTHUMT00000379808.1	235	0.00	0	C	NM_057749, NM_004702		95902673	95902673	-1	no_errors	ENST00000308108	ensembl	human	known	69_37n	missense	195	19.67	48	SNP	1.000	T
CCNE2	9134	genome.wustl.edu	37	8	95906149	95906149	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:95906149C>T	ENST00000520509.1	-	4	387	c.135G>A	c.(133-135)gaG>gaA	p.E45E	NDUFAF6_ENST00000396113.1_5'Flank|CCNE2_ENST00000523476.1_5'Flank|CCNE2_ENST00000396133.3_Silent_p.E45E|CCNE2_ENST00000308108.4_Silent_p.E45E			O96020	CCNE2_HUMAN	cyclin E2	45					cell cycle checkpoint (GO:0000075)|cell division (GO:0051301)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					TCTTGGTGACCTCCTCTCTTC	0.393																																						dbGAP											0													140.0	143.0	142.0					8																	95906149		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF091433	CCDS6264.1	8q22.1	2005-10-18			ENSG00000175305	ENSG00000175305			1590	protein-coding gene	gene with protein product		603775				9840927, 9840943	Standard	NM_057749		Approved	CYCE2	uc003yhc.3	O96020	OTTHUMG00000164696	ENST00000520509.1:c.135G>A	8.37:g.95906149C>T			O95439	Missense_Mutation	SNP	NULL	p.G55S	ENST00000520509.1	37	c.163	CCDS6264.1	8																																																																																			CCNE2	-	NULL	ENSG00000175305		0.393	CCNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNE2	HGNC	protein_coding	OTTHUMT00000379808.1	226	0.00	0	C	NM_057749, NM_004702		95906149	95906149	-1	no_errors	ENST00000519889	ensembl	human	known	69_37n	missense	187	13.43	29	SNP	0.260	T
CCR3	1232	genome.wustl.edu	37	3	46307028	46307028	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:46307028C>T	ENST00000357422.2	+	4	922	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	CCR3_ENST00000395940.2_Silent_p.L127L|CCR3_ENST00000395942.2_Silent_p.L127L|CCR3_ENST00000545097.1_Silent_p.L148L|CCR3_ENST00000541018.1_Silent_p.L127L			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	127					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAATCCTGCTGACAATCGA	0.517																																						dbGAP											0													115.0	111.0	112.0					3																	46307028		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.379C>T	3.37:g.46307028C>T			B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1,prints_P2_purnocptor	p.L148	ENST00000357422.2	37	c.442	CCDS2738.1	3																																																																																			CCR3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000183625		0.517	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	HGNC	protein_coding	OTTHUMT00000257380.2	287	0.00	0	C			46307028	46307028	+1	no_errors	ENST00000545097	ensembl	human	known	69_37n	silent	176	17.37	37	SNP	0.067	T
CD22	933	genome.wustl.edu	37	19	35823757	35823757	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:35823757T>G	ENST00000085219.5	+	3	408	c.342T>G	c.(340-342)agT>agG	p.S114R	CD22_ENST00000341773.6_Missense_Mutation_p.S114R|CD22_ENST00000594250.1_Missense_Mutation_p.S114R|CD22_ENST00000544992.2_Missense_Mutation_p.S114R|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000536635.2_Missense_Mutation_p.S114R|CD22_ENST00000595419.1_3'UTR|U62631.5_ENST00000597110.1_RNA	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	114	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCAATGACAGTGGTCAGCTGG	0.527																																					Ovarian(42;1009 1133 23674 26041)	dbGAP											0													91.0	79.0	83.0					19																	35823757		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.342T>G	19.37:g.35823757T>G	ENSP00000085219:p.Ser114Arg		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S114R	ENST00000085219.5	37	c.342	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	T	19.39	3.817850	0.71028	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.26	-6.71	0.01760	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.325700	0.26919	N	0.021834	T	0.62527	0.2435	M	0.67953	2.075	0.80722	D	1	D;D;D;D	0.69078	0.986;0.997;0.986;0.98	P;D;P;P	0.68621	0.812;0.959;0.809;0.79	T	0.70428	-0.4874	10	0.51188	T	0.08	.	15.2019	0.73147	0.0:0.1466:0.0:0.8534	.	114;114;114;114	F5GYU4;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	R	114	ENSP00000085219:S114R;ENSP00000442279:S114R;ENSP00000339349:S114R;ENSP00000441237:S114R	ENSP00000085219:S114R	S	+	3	2	CD22	40515597	0.001000	0.12720	0.419000	0.26584	0.225000	0.24961	-2.360000	0.01084	-1.112000	0.02984	-0.468000	0.05107	AGT	CD22	-	smart_Ig_sub	ENSG00000012124		0.527	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	99	0.00	0	T	NM_001771		35823757	35823757	+1	no_errors	ENST00000085219	ensembl	human	known	69_37n	missense	72	37.93	44	SNP	0.630	G
CD300C	10871	genome.wustl.edu	37	17	72540849	72540849	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:72540849A>G	ENST00000330793.1	-	2	659	c.299T>C	c.(298-300)cTc>cCc	p.L100P		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	100	Ig-like V-type.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CTCCTCTGTGAGATTCTCCAG	0.557																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	dbGAP											0													188.0	148.0	162.0					17																	72540849		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.299T>C	17.37:g.72540849A>G	ENSP00000329507:p.Leu100Pro			Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.L100P	ENST00000330793.1	37	c.299	CCDS11701.1	17	.	.	.	.	.	.	.	.	.	.	A	15.22	2.770281	0.49680	.	.	ENSG00000167850	ENST00000330793	T	0.73363	-0.74	4.33	4.33	0.51752	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.169392	0.27768	N	0.017939	D	0.88250	0.6386	M	0.93763	3.455	0.20873	N	0.999839	D	0.89917	1.0	D	0.97110	1.0	T	0.81033	-0.1116	10	0.87932	D	0	.	10.5252	0.44943	1.0:0.0:0.0:0.0	.	100	Q08708	CLM6_HUMAN	P	100	ENSP00000329507:L100P	ENSP00000329507:L100P	L	-	2	0	CD300C	70052444	0.876000	0.30132	0.035000	0.18076	0.003000	0.03518	4.983000	0.63832	1.920000	0.55613	0.454000	0.30748	CTC	CD300C	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000167850		0.557	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300C	HGNC	protein_coding	OTTHUMT00000145084.1	111	0.00	0	A	NM_006678		72540849	72540849	-1	no_errors	ENST00000330793	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	0.075	G
CD97	976	genome.wustl.edu	37	19	14507238	14507238	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:14507238G>A	ENST00000242786.5	+	5	511	c.431G>A	c.(430-432)tGc>tAc	p.C144Y	CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.C144Y|CD97_ENST00000358600.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	144	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						ACCTGCCAGTGCCTGCCTGGC	0.582																																						dbGAP											0													124.0	102.0	109.0					19																	14507238		2203	4300	6503	-	-	-	SO:0001583	missense	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.431G>A	19.37:g.14507238G>A	ENSP00000242786:p.Cys144Tyr		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.C144Y	ENST00000242786.5	37	c.431	CCDS32929.1	19	.	.	.	.	.	.	.	.	.	.	g	14.87	2.665102	0.47677	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000393059	D;D	0.99445	-5.91;-5.91	4.39	3.31	0.37934	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99539	0.9835	H	0.97240	3.965	0.09310	N	0.999997	P;D	0.61697	0.942;0.99	P;P	0.55871	0.458;0.786	D	0.98210	1.0472	9	0.87932	D	0	.	9.1422	0.36910	0.0:0.0:0.7821:0.2179	.	144;144	P48960-3;P48960	.;CD97_HUMAN	Y	144;144;143	ENSP00000242786:C144Y;ENSP00000349918:C144Y	ENSP00000242786:C144Y	C	+	2	0	CD97	14368238	1.000000	0.71417	0.002000	0.10522	0.009000	0.06853	6.741000	0.74837	0.991000	0.38814	0.556000	0.70494	TGC	CD97	-	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000123146		0.582	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	57	0.00	0	G	NM_078481		14507238	14507238	+1	no_errors	ENST00000242786	ensembl	human	known	69_37n	missense	36	40.32	25	SNP	0.075	A
CDC123	8872	genome.wustl.edu	37	10	12238268	12238268	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:12238268C>T	ENST00000281141.4	+	1	304	c.24C>T	c.(22-24)caC>caT	p.H8H	NUDT5_ENST00000491614.1_5'Flank|CDC123_ENST00000378900.2_Silent_p.H8H|CDC123_ENST00000455773.3_3'UTR|NUDT5_ENST00000537776.1_5'Flank|NUDT5_ENST00000378952.3_5'Flank|NUDT5_ENST00000378927.3_5'Flank|NUDT5_ENST00000378940.3_5'Flank|NUDT5_ENST00000378937.3_5'Flank	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	8					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						ATGTGCTTCACTGCCAGTTCT	0.642																																						dbGAP											0													124.0	107.0	113.0					10																	12238268		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.24C>T	10.37:g.12238268C>T			A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Silent	SNP	pfam_D123,pirsf_Cell_div_Cdc123	p.H8	ENST00000281141.4	37	c.24	CCDS7090.1	10																																																																																			CDC123	-	pirsf_Cell_div_Cdc123	ENSG00000151465		0.642	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC123	HGNC	protein_coding	OTTHUMT00000046801.1	35	0.00	0	C	NM_006023		12238268	12238268	+1	no_errors	ENST00000281141	ensembl	human	known	69_37n	silent	62	15.07	11	SNP	1.000	T
CDC42BPB	9578	genome.wustl.edu	37	14	103474889	103474889	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:103474889C>T	ENST00000361246.2	-	3	559	c.271G>A	c.(271-273)Gct>Act	p.A91T		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGACAACAGCAACCTGCAGT	0.423																																						dbGAP											0													125.0	111.0	115.0					14																	103474889		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.271G>A	14.37:g.103474889C>T	ENSP00000355237:p.Ala91Thr			Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,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,smart_PAK_box_Rho-bd,prints_DAG/PE-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.A91T	ENST00000361246.2	37	c.271	CCDS9978.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.491680	0.96339	.	.	ENSG00000198752	ENST00000361246	T	0.39056	1.1	5.37	5.37	0.77165	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.103239	0.64402	D	0.000003	T	0.41949	0.1181	N	0.10733	0.035	0.80722	D	1	D	0.58620	0.983	P	0.56648	0.803	T	0.51803	-0.8659	10	0.59425	D	0.04	.	19.5246	0.95199	0.0:1.0:0.0:0.0	.	91	Q9Y5S2	MRCKB_HUMAN	T	91	ENSP00000355237:A91T	ENSP00000355237:A91T	A	-	1	0	CDC42BPB	102544642	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.610000	0.82949	2.695000	0.91970	0.650000	0.86243	GCT	CDC42BPB	-	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	ENSG00000198752		0.423	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPB	HGNC	protein_coding	OTTHUMT00000415711.1	79	0.00	0	C	NM_006035		103474889	103474889	-1	no_errors	ENST00000361246	ensembl	human	known	69_37n	missense	52	32.47	25	SNP	1.000	T
CDC73	79577	genome.wustl.edu	37	1	193202215	193202215	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:193202215G>A	ENST00000367435.3	+	14	1431	c.1247G>A	c.(1246-1248)gGc>gAc	p.G416D	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	416	Interaction with POLR2A and PAF1.				cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CAACCAGGGGGCACTGCAATT	0.368																																						dbGAP											0													97.0	96.0	96.0					1																	193202215		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.1247G>A	1.37:g.193202215G>A	ENSP00000356405:p.Gly416Asp		A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Missense_Mutation	SNP	pfam_RNA_pol_access_fac_Cdc73	p.G416D	ENST00000367435.3	37	c.1247	CCDS1382.1	1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313940	0.81358	.	.	ENSG00000134371	ENST00000367435	D	0.85955	-2.05	5.29	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.78910	0.4358	L	0.38175	1.15	0.80722	D	1	B	0.20887	0.049	B	0.20577	0.03	T	0.73655	-0.3914	10	0.32370	T	0.25	-10.3253	14.0853	0.64951	0.0729:0.0:0.9271:0.0	.	416	Q6P1J9	CDC73_HUMAN	D	416	ENSP00000356405:G416D	ENSP00000356405:G416D	G	+	2	0	CDC73	191468838	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.160000	0.94734	1.361000	0.45981	0.655000	0.94253	GGC	CDC73	-	pfam_RNA_pol_access_fac_Cdc73	ENSG00000134371		0.368	CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC73	HGNC	protein_coding	OTTHUMT00000086696.2	283	0.00	0	G	NM_024529		193202215	193202215	+1	no_errors	ENST00000367435	ensembl	human	known	69_37n	missense	258	12.54	37	SNP	1.000	A
CDCA4	55038	genome.wustl.edu	37	14	105478143	105478143	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:105478143G>A	ENST00000336219.3	-	2	279	c.124C>T	c.(124-126)Ctg>Ttg	p.L42L	CDCA4_ENST00000392590.3_Silent_p.L42L	NM_017955.3	NP_060425.2	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	42	SERTA. {ECO:0000255|PROSITE- ProRule:PRU00396}.					nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		AACTTCACCAGAGACATGTCC	0.587																																						dbGAP											0													72.0	58.0	63.0					14																	105478143		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BG354577	CCDS9996.1	14q32.33	2014-02-14			ENSG00000170779	ENSG00000170779			14625	protein-coding gene	gene with protein product	"""hematopoietic progenitor protein"""	612270				12188893	Standard	NM_145701		Approved	FLJ20764, Hepp	uc001yqb.2	Q9BXL8	OTTHUMG00000170767	ENST00000336219.3:c.124C>T	14.37:g.105478143G>A			Q8TB18|Q9NWK7	Silent	SNP	pfam_SERTA,pfscan_SERTA	p.L42	ENST00000336219.3	37	c.124	CCDS9996.1	14																																																																																			CDCA4	-	pfam_SERTA,pfscan_SERTA	ENSG00000170779		0.587	CDCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA4	HGNC	protein_coding	OTTHUMT00000410311.1	58	0.00	0	G	NM_145701		105478143	105478143	-1	no_errors	ENST00000336219	ensembl	human	known	69_37n	silent	43	18.87	10	SNP	1.000	A
CDCA7	83879	genome.wustl.edu	37	2	174223538	174223538	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:174223538C>T	ENST00000347703.3	+	2	264	c.120C>T	c.(118-120)agC>agT	p.S40S	CDCA7_ENST00000410101.3_Silent_p.S40S|CDCA7_ENST00000410019.3_Intron|CDCA7_ENST00000392567.2_Silent_p.S40S|CDCA7_ENST00000306721.3_Silent_p.S40S|AC092573.2_ENST00000437243.1_RNA	NM_145810.2	NP_665809.1	Q9BWT1	CDCA7_HUMAN	cell division cycle associated 7	40					apoptotic process (GO:0006915)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GTTGTGACAGCTTTGCTTCTG	0.403																																						dbGAP											0													96.0	96.0	96.0					2																	174223538		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BG354580	CCDS2252.1, CCDS2253.1	2q31.1	2008-02-05			ENSG00000144354	ENSG00000144354			14628	protein-coding gene	gene with protein product		609937				11598121, 12188893	Standard	NM_145810		Approved	FLJ14736, JPO1	uc002uic.1	Q9BWT1	OTTHUMG00000132296	ENST00000347703.3:c.120C>T	2.37:g.174223538C>T			B4DLP8|B4DV66|Q53EW5|Q580W9|Q658K4|Q658N4|Q8NBY9|Q96BV8|Q96SP5	Silent	SNP	pfam_Znf-4CXXC_R1	p.S40	ENST00000347703.3	37	c.120	CCDS2253.1	2																																																																																			CDCA7	-	NULL	ENSG00000144354		0.403	CDCA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7	HGNC	protein_coding	OTTHUMT00000255400.1	77	0.00	0	C	NM_031942		174223538	174223538	+1	no_errors	ENST00000306721	ensembl	human	known	69_37n	silent	82	17.17	17	SNP	1.000	T
CDK19	23097	genome.wustl.edu	37	6	110943342	110943342	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:110943342G>A	ENST00000368911.3	-	11	1238	c.1059C>T	c.(1057-1059)taC>taT	p.Y353Y	CDK19_ENST00000413605.2_Silent_p.Y229Y|CDK19_ENST00000323817.3_Silent_p.Y293Y	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	353							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTCGTTTGGGGTATGGAATCT	0.338																																						dbGAP											0													158.0	162.0	161.0					6																	110943342		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.1059C>T	6.37:g.110943342G>A			Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	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.Y353	ENST00000368911.3	37	c.1059	CCDS5085.1	6																																																																																			CDK19	-	superfamily_Kinase-like_dom	ENSG00000155111		0.338	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	184	0.00	0	G	NM_015076		110943342	110943342	-1	no_errors	ENST00000368911	ensembl	human	known	69_37n	silent	153	12.57	22	SNP	1.000	A
CDK19	23097	genome.wustl.edu	37	6	111136229	111136229	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:111136229C>T	ENST00000368911.3	-	1	290	c.111G>A	c.(109-111)aaG>aaA	p.K37K	CDK19_ENST00000323817.3_Intron|CDK19_ENST00000497709.1_Intron	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TCCGCCTCGCCTTGTAGACGT	0.652																																						dbGAP											0													131.0	100.0	111.0					6																	111136229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.111G>A	6.37:g.111136229C>T			Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	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.K37	ENST00000368911.3	37	c.111	CCDS5085.1	6																																																																																			CDK19	-	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	ENSG00000155111		0.652	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	24	0.00	0	C	NM_015076		111136229	111136229	-1	no_errors	ENST00000368911	ensembl	human	known	69_37n	silent	25	19.35	6	SNP	1.000	T
CDK5RAP2	55755	genome.wustl.edu	37	9	123165143	123165143	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:123165143C>T	ENST00000349780.4	-	34	5427	c.5248G>A	c.(5248-5250)Gaa>Aaa	p.E1750K	CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.E1718K|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.E1709K|CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.E1671K	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1750	Interaction with CDK5R1. {ECO:0000250}.|Interaction with PCNT and AKAP9.				brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATGTCCATTTCAGCAAGGAGC	0.577																																						dbGAP											0													68.0	67.0	67.0					9																	123165143		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.5248G>A	9.37:g.123165143C>T	ENSP00000343818:p.Glu1750Lys		Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	pfam_Spindle_assoc	p.E1750K	ENST00000349780.4	37	c.5248	CCDS6823.1	9	.	.	.	.	.	.	.	.	.	.	C	4.415	0.076738	0.08485	.	.	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449;ENST00000425647;ENST00000345313	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.15	3.28	0.37604	.	0.207171	0.33346	N	0.005009	T	0.46054	0.1373	N	0.17594	0.5	0.28941	N	0.890959	B;P;B;B;B	0.43578	0.007;0.811;0.096;0.023;0.028	B;P;B;B;B	0.60789	0.013;0.879;0.05;0.033;0.023	T	0.35624	-0.9781	10	0.35671	T	0.21	.	8.5886	0.33672	0.0:0.819:0.0:0.181	.	760;1718;1671;1750;1144	Q5JTU8;Q96SN8-2;Q96SN8-4;Q96SN8;B1AMJ5	.;.;.;CK5P2_HUMAN;.	K	1718;1709;1750;1671;1144;760;1522	ENSP00000354065:E1718K;ENSP00000352258:E1709K;ENSP00000343818:E1750K;ENSP00000353317:E1671K;ENSP00000400395:E1144K;ENSP00000409941:E760K	ENSP00000341695:E1522K	E	-	1	0	CDK5RAP2	122204964	0.552000	0.26505	0.589000	0.28718	0.223000	0.24884	1.120000	0.31271	0.657000	0.30906	0.467000	0.42956	GAA	CDK5RAP2	-	NULL	ENSG00000136861		0.577	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK5RAP2	HGNC	protein_coding	OTTHUMT00000055535.1	88	0.00	0	C	NM_018249		123165143	123165143	-1	no_errors	ENST00000349780	ensembl	human	known	69_37n	missense	54	20.59	14	SNP	0.952	T
CDK9	1025	genome.wustl.edu	37	9	130550296	130550296	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:130550296G>A	ENST00000373264.4	+	4	436	c.336G>A	c.(334-336)ggG>ggA	p.G112G	MIR3960_ENST00000583311.1_RNA|CDK9_ENST00000480353.1_3'UTR|CDK9_ENST00000373265.2_Silent_p.G229G	NM_001261.3	NP_001252.1	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	112	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|DNA repair (GO:0006281)|gene expression (GO:0010467)|negative regulation of cell cycle arrest (GO:0071157)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of DNA repair (GO:0006282)|regulation of histone modification (GO:0031056)|replication fork arrest (GO:0043111)|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, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|positive transcription elongation factor complex b (GO:0008024)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA binding (GO:0003677)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			lung(1)	1						ACCTTGCTGGGCTGTTGAGCA	0.488																																						dbGAP											0													131.0	117.0	122.0					9																	130550296		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L25676	CCDS6879.1	9q34.1	2011-11-08	2007-11-21		ENSG00000136807	ENSG00000136807		"""Cyclin-dependent kinases"""	1780	protein-coding gene	gene with protein product		603251	"""cyclin-dependent kinase 9 (CDC2-related kinase)"""	CDC2L4		8170997, 9356449	Standard	NM_001261		Approved	PITALRE, C-2k, TAK	uc004bse.2	P50750	OTTHUMG00000020715	ENST00000373264.4:c.336G>A	9.37:g.130550296G>A			Q5JU24|Q5JU25|Q5U006|Q96TF1	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.G229	ENST00000373264.4	37	c.687	CCDS6879.1	9																																																																																			CDK9	-	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	ENSG00000136807		0.488	CDK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK9	HGNC	protein_coding	OTTHUMT00000054235.1	44	0.00	0	G			130550296	130550296	+1	no_errors	ENST00000373265	ensembl	human	known	69_37n	silent	28	15.15	5	SNP	0.925	A
CDRT1	374286	genome.wustl.edu	37	17	15519016	15519016	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:15519016G>A	ENST00000395906.3	-	2	612	c.613C>T	c.(613-615)Ctt>Ttt	p.L205F	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.L515F	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	205										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GACAAAGGAAGGGATGTGTGC	0.483																																						dbGAP											0													74.0	75.0	75.0					17																	15519016		2202	4299	6501	-	-	-	SO:0001583	missense	0			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.613C>T	17.37:g.15519016G>A	ENSP00000379242:p.Leu205Phe		O43848|O95611	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L205F	ENST00000395906.3	37	c.613	CCDS45619.1	17	.	.	.	.	.	.	.	.	.	.	G	7.374	0.627346	0.14257	.	.	ENSG00000251537	ENST00000261644;ENST00000395906	T	0.21734	1.99	3.68	1.11	0.20524	.	0.398240	0.18094	N	0.151901	T	0.03348	0.0097	N	0.00162	-1.95	0.24203	N	0.995502	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.40572	-0.9556	10	0.19590	T	0.45	.	3.6467	0.08187	0.6509:0.2257:0.1234:0.0	.	205;529	O95170;Q59EB2	CDRT1_HUMAN;.	F	205	ENSP00000379242:L205F	ENSP00000261644:L205F	L	-	1	0	RP11-385D13.1	15459741	0.991000	0.36638	0.260000	0.24451	0.318000	0.28184	0.680000	0.25306	0.230000	0.21059	-0.474000	0.04947	CTT	CDRT1	-	NULL	ENSG00000241322		0.483	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CDRT1	HGNC	protein_coding	OTTHUMT00000448127.1	87	0.00	0	G	NM_006382		15519016	15519016	-1	no_errors	ENST00000395906	ensembl	human	known	69_37n	missense	89	10.10	10	SNP	0.298	A
CECR1	51816	genome.wustl.edu	37	22	17669255	17669255	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:17669255G>A	ENST00000399839.1	-	7	1325	c.1055C>T	c.(1054-1056)cCt>cTt	p.P352L	CECR1_ENST00000480276.1_5'Flank|CECR1_ENST00000399837.2_Missense_Mutation_p.P352L|CECR1_ENST00000262607.3_Missense_Mutation_p.P352L|CECR1_ENST00000449907.2_Missense_Mutation_p.P310L|CECR1_ENST00000330232.4_Missense_Mutation_p.P111L	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	352					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GAAGAAGTAAGGCAGCTTAAC	0.607																																						dbGAP											0													98.0	81.0	87.0					22																	17669255		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.1055C>T	22.37:g.17669255G>A	ENSP00000382733:p.Pro352Leu		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like	p.P352L	ENST00000399839.1	37	c.1055	CCDS13742.1	22	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147219	0.57151	.	.	ENSG00000093072	ENST00000399839;ENST00000330232;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	4.24	4.24	0.50183	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.91229	0.7236	M	0.85859	2.78	0.80722	D	1	D;P	0.89917	1.0;0.923	D;B	0.97110	1.0;0.44	D	0.92608	0.6097	10	0.72032	D	0.01	.	13.7976	0.63180	0.0:0.0:1.0:0.0	.	352;111	Q9NZK5;Q9NZK5-2	CECR1_HUMAN;.	L	352;111;352;310;352	ENSP00000382733:P352L;ENSP00000332871:P111L;ENSP00000262607:P352L;ENSP00000406443:P310L;ENSP00000382731:P352L	ENSP00000262607:P352L	P	-	2	0	CECR1	16049255	1.000000	0.71417	0.979000	0.43373	0.063000	0.16089	5.527000	0.67123	1.903000	0.55091	0.561000	0.74099	CCT	CECR1	-	pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like	ENSG00000093072		0.607	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CECR1	HGNC	protein_coding	OTTHUMT00000316079.1	83	0.00	0	G			17669255	17669255	-1	no_errors	ENST00000262607	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	1.000	A
CHAC1	79094	genome.wustl.edu	37	15	41247843	41247843	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:41247843G>A	ENST00000446533.3	+	3	975	c.666G>A	c.(664-666)ctG>ctA	p.L222L	CHAC1_ENST00000487220.1_5'UTR|CHAC1_ENST00000444189.2_Silent_p.L177L	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	222					intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein processing (GO:0010955)|neurogenesis (GO:0022008)|Notch signaling pathway (GO:0007219)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|trans-Golgi network (GO:0005802)	Notch binding (GO:0005112)			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AATACTTGCTGCGTCTGGCAG	0.637																																						dbGAP											0													62.0	62.0	62.0					15																	41247843		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC019625	CCDS10070.2, CCDS45233.1	15q15.1	2013-09-12	2006-09-12		ENSG00000128965	ENSG00000128965			28680	protein-coding gene	gene with protein product	"""gamma-GCT acting on glutathione homolog 1"""	614587	"""ChaC, cation transport regulator-like 1 (E. coli)"""			23070364	Standard	NM_024111		Approved	MGC4504	uc001znh.2	Q9BUX1	OTTHUMG00000130208	ENST00000446533.3:c.666G>A	15.37:g.41247843G>A			Q0VIA0	Silent	SNP	pfam_ChaC	p.L222	ENST00000446533.3	37	c.666	CCDS10070.2	15																																																																																			CHAC1	-	pfam_ChaC	ENSG00000128965		0.637	CHAC1-001	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	CHAC1	HGNC	protein_coding	OTTHUMT00000252526.3	42	0.00	0	G	NM_024111		41247843	41247843	+1	no_errors	ENST00000446533	ensembl	human	known	69_37n	silent	62	11.43	8	SNP	1.000	A
CGNL1	84952	genome.wustl.edu	37	15	57730764	57730764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:57730764G>A	ENST00000281282.5	+	2	645	c.567G>A	c.(565-567)tgG>tgA	p.W189*		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	189	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAAGCCTTGGACTTGCTTTC	0.458																																						dbGAP											0													118.0	120.0	119.0					15																	57730764		2192	4292	6484	-	-	-	SO:0001587	stop_gained	0			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.567G>A	15.37:g.57730764G>A	ENSP00000281282:p.Trp189*		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Nonsense_Mutation	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.W189*	ENST00000281282.5	37	c.567	CCDS10161.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.031443	0.75504	.	.	ENSG00000128849	ENST00000281282	.	.	.	4.98	3.99	0.46301	.	0.499482	0.17195	N	0.183348	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-5.1468	3.1832	0.06592	0.1478:0.1529:0.5424:0.1569	.	.	.	.	X	189	.	ENSP00000281282:W189X	W	+	3	0	CGNL1	55518056	1.000000	0.71417	0.968000	0.41197	0.941000	0.58515	1.787000	0.38704	2.577000	0.86979	0.650000	0.86243	TGG	CGNL1	-	NULL	ENSG00000128849		0.458	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	348	0.00	0	G	NM_032866		57730764	57730764	+1	no_errors	ENST00000281282	ensembl	human	known	69_37n	nonsense	243	17.63	52	SNP	0.980	A
CHD7	55636	genome.wustl.edu	37	8	61769167	61769167	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:61769167A>C	ENST00000423902.2	+	34	7807	c.7328A>C	c.(7327-7329)gAt>gCt	p.D2443A	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2443					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)			AAAGTTGTAGATTTATCAAAG	0.438																																						dbGAP											0													111.0	107.0	109.0					8																	61769167		1846	4084	5930	-	-	-	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.7328A>C	8.37:g.61769167A>C	ENSP00000392028:p.Asp2443Ala		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.D2443A	ENST00000423902.2	37	c.7328	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	A	16.28	3.078693	0.55753	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.58210	0.35	5.1	5.1	0.69264	.	0.135643	0.47852	D	0.000210	T	0.65450	0.2692	L	0.46157	1.445	0.58432	D	0.999999	D	0.71674	0.998	D	0.78314	0.991	T	0.64706	-0.6344	10	0.41790	T	0.15	-22.8445	15.0385	0.71767	1.0:0.0:0.0:0.0	.	2443	Q9P2D1	CHD7_HUMAN	A	2443	ENSP00000392028:D2443A	ENSP00000307304:D2443A	D	+	2	0	CHD7	61931721	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.348000	0.90064	2.141000	0.66446	0.460000	0.39030	GAT	CHD7	-	NULL	ENSG00000171316		0.438	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	133	0.00	0	A	XM_098762		61769167	61769167	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	missense	146	37.61	88	SNP	1.000	C
CHD8	57680	genome.wustl.edu	37	14	21861364	21861364	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:21861364G>A	ENST00000557364.1	-	33	6632	c.6369C>T	c.(6367-6369)ctC>ctT	p.L2123L	CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Silent_p.L1844L|CHD8_ENST00000399982.2_Silent_p.L2123L|SNORD9_ENST00000362566.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2123					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)		GGGACATAGTGAGGGACAGGA	0.478																																						dbGAP											0													117.0	111.0	113.0					14																	21861364		1884	4120	6004	-	-	-	SO:0001819	synonymous_variant	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.6369C>T	14.37:g.21861364G>A			Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent	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.L2123	ENST00000557364.1	37	c.6369	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.478	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	113	0.00	0	G	NM_020920		21861364	21861364	-1	no_errors	ENST00000399982	ensembl	human	known	69_37n	silent	76	35.59	42	SNP	1.000	A
CHI3L1	1116	genome.wustl.edu	37	1	203154352	203154352	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:203154352C>T	ENST00000255409.3	-	3	342	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	73					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to tumor necrosis factor (GO:0071356)|chitin catabolic process (GO:0006032)|inflammatory response (GO:0006954)|interleukin-8 secretion (GO:0072606)|lung development (GO:0030324)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase B signaling (GO:0051897)|response to interleukin-1 (GO:0070555)|response to interleukin-6 (GO:0070741)|response to mechanical stimulus (GO:0009612)|response to tumor necrosis factor (GO:0034612)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|extracellular matrix structural constituent (GO:0005201)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						AGCGTCACATCATTCCACTCC	0.572																																						dbGAP											0													155.0	144.0	148.0					1																	203154352		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008568	CCDS1435.1	1q32.1	2008-02-05			ENSG00000133048	ENSG00000133048			1932	protein-coding gene	gene with protein product		601525				8245017, 9244440	Standard	NM_001276		Approved	GP39, YKL40	uc001gzi.2	P36222	OTTHUMG00000042122	ENST00000255409.3:c.217G>A	1.37:g.203154352C>T	ENSP00000255409:p.Asp73Asn		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.D73N	ENST00000255409.3	37	c.217	CCDS1435.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.239759	0.95240	.	.	ENSG00000133048	ENST00000255409	T	0.32272	1.46	5.35	5.35	0.76521	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.56097	D	0.000032	T	0.62258	0.2413	M	0.87456	2.885	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.68652	-0.5352	10	0.87932	D	0	-26.1771	16.9172	0.86154	0.0:1.0:0.0:0.0	.	73	P36222	CH3L1_HUMAN	N	73	ENSP00000255409:D73N	ENSP00000255409:D73N	D	-	1	0	CHI3L1	201420975	1.000000	0.71417	0.493000	0.27502	0.995000	0.86356	7.051000	0.76627	2.642000	0.89623	0.655000	0.94253	GAT	CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000133048		0.572	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	110	0.00	0	C	NM_001276		203154352	203154352	-1	no_errors	ENST00000255409	ensembl	human	known	69_37n	missense	74	15.91	14	SNP	0.999	T
CHMP4B	128866	genome.wustl.edu	37	20	32436337	32436337	+	Silent	SNP	A	A	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:32436337A>T	ENST00000217402.2	+	2	420	c.255A>T	c.(253-255)acA>acT	p.T85T		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	85					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|positive regulation of viral release from host cell (GO:1902188)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TCGACGGCACATTATCAACCA	0.582																																						dbGAP											0													105.0	74.0	85.0					20																	32436337		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL050349	CCDS13228.1	20q11.22	2011-09-21	2011-09-21	2005-04-04	ENSG00000101421	ENSG00000101421		"""Charged multivesicular body proteins"""	16171	protein-coding gene	gene with protein product		610897	"""chromosome 20 open reading frame 178"", ""chromatin modifying protein 4B"""	C20orf178		14678797	Standard	NM_176812		Approved	dJ553F4.4, Shax1, SNF7-2, VPS32B	uc002xaa.3	Q9H444	OTTHUMG00000032272	ENST00000217402.2:c.255A>T	20.37:g.32436337A>T			E1P5N4|Q53ZD6	Silent	SNP	pfam_Snf7	p.T85	ENST00000217402.2	37	c.255	CCDS13228.1	20																																																																																			CHMP4B	-	pfam_Snf7	ENSG00000101421		0.582	CHMP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHMP4B	HGNC	protein_coding	OTTHUMT00000078738.2	52	0.00	0	A			32436337	32436337	+1	no_errors	ENST00000217402	ensembl	human	known	69_37n	silent	36	16.28	7	SNP	0.576	T
CHST5	23563	genome.wustl.edu	37	16	75563695	75563695	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:75563695C>T	ENST00000336257.3	-	3	1982	c.588G>A	c.(586-588)aaG>aaA	p.K196K	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.K202K	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	196					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGCGCACCTCCTTGAGCACCA	0.672																																						dbGAP											0													87.0	94.0	92.0					16																	75563695		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.588G>A	16.37:g.75563695C>T			B2RV23|Q7LCN3|Q9UBY3	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.K202	ENST00000336257.3	37	c.606	CCDS10919.1	16																																																																																			CHST5	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	ENSG00000135702		0.672	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST5	HGNC	protein_coding	OTTHUMT00000269025.2	27	0.00	0	C	NM_012126		75563695	75563695	-1	no_errors	ENST00000541075	ensembl	human	known	69_37n	silent	33	35.29	18	SNP	1.000	T
CHSY1	22856	genome.wustl.edu	37	15	101775743	101775743	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:101775743G>A	ENST00000254190.3	-	2	835	c.360C>T	c.(358-360)ttC>ttT	p.F120F		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	120					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTCACTTGAGAAGAACTGAA	0.438																																						dbGAP											0													78.0	81.0	80.0					15																	101775743		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.360C>T	15.37:g.101775743G>A			Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.F120	ENST00000254190.3	37	c.360	CCDS10390.1	15																																																																																			CHSY1	-	pfam_Fringe-like	ENSG00000131873		0.438	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY1	HGNC	protein_coding	OTTHUMT00000313624.1	198	0.00	0	G	NM_014918		101775743	101775743	-1	no_errors	ENST00000254190	ensembl	human	known	69_37n	silent	210	22.79	62	SNP	1.000	A
CHSY3	337876	genome.wustl.edu	37	5	129521229	129521229	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:129521229C>T	ENST00000305031.4	+	3	2752	c.2394C>T	c.(2392-2394)acC>acT	p.T798T		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	798					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GATTTGATACCTCAATACAAG	0.398																																						dbGAP											0													88.0	89.0	89.0					5																	129521229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2394C>T	5.37:g.129521229C>T			B2RP97|Q76L22|Q86Y52	Silent	SNP	pfam_Chond_GalNAc,pfam_Fringe-like	p.T798	ENST00000305031.4	37	c.2394	CCDS34223.1	5																																																																																			CHSY3	-	pfam_Chond_GalNAc	ENSG00000198108		0.398	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHSY3	HGNC	protein_coding	OTTHUMT00000371453.1	226	0.00	0	C	NM_175856		129521229	129521229	+1	no_errors	ENST00000305031	ensembl	human	known	69_37n	silent	239	13.72	38	SNP	1.000	T
CLASP1	23332	genome.wustl.edu	37	2	122161961	122161961	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:122161961C>T	ENST00000263710.4	-	26	3108	c.2719G>A	c.(2719-2721)Gac>Aac	p.D907N	CLASP1_ENST00000409078.3_Missense_Mutation_p.D879N|CLASP1_ENST00000541859.1_Missense_Mutation_p.D640N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D887N|CLASP1_ENST00000545861.1_Missense_Mutation_p.D654N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D885N|CLASP1_ENST00000455322.2_Missense_Mutation_p.D879N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	907					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)					CTATGAGGGTCAGCAAACATC	0.393																																						dbGAP											0													103.0	102.0	102.0					2																	122161961		1999	4172	6171	-	-	-	SO:0001583	missense	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.2719G>A	2.37:g.122161961C>T	ENSP00000263710:p.Asp907Asn		B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D907N	ENST00000263710.4	37	c.2719		2	.	.	.	.	.	.	.	.	.	.	C	34	5.325861	0.95708	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.101905	0.64402	D	0.000001	D	0.87755	0.6257	M	0.68593	2.085	0.80722	D	1	D;D;D;P	0.89917	0.999;1.0;0.979;0.953	D;D;P;P	0.91635	0.997;0.999;0.829;0.887	D	0.88444	0.3044	10	0.87932	D	0	-2.6601	19.4352	0.94788	0.0:1.0:0.0:0.0	.	879;887;885;907	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	N	907;879;887;885;640;879;654	ENSP00000263710:D907N;ENSP00000389372:D879N;ENSP00000380717:D887N;ENSP00000441625:D885N;ENSP00000441770:D640N;ENSP00000386442:D879N;ENSP00000438620:D654N	ENSP00000263710:D907N	D	-	1	0	CLASP1	121878431	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	7.506000	0.81665	2.599000	0.87857	0.563000	0.77884	GAC	CLASP1	-	superfamily_ARM-type_fold	ENSG00000074054		0.393	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		54	0.00	0	C	NM_015282		122161961	122161961	-1	no_errors	ENST00000263710	ensembl	human	known	69_37n	missense	34	19.05	8	SNP	1.000	T
CLCNKA	1187	genome.wustl.edu	37	1	16356296	16356296	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:16356296G>A	ENST00000331433.4	+	13	1316		c.e13+1		CLCNKA_ENST00000464764.1_Splice_Site|CLCNKA_ENST00000420078.1_Splice_Site|CLCNKA_ENST00000375692.1_Splice_Site|CLCNKA_ENST00000439316.2_Splice_Site			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka						excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TTTATCCTTGGTGAGTCTGGG	0.587																																						dbGAP											0													206.0	178.0	187.0					1																	16356296		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1297+1G>A	1.37:g.16356296G>A			B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Splice_Site	SNP	-	e12+1	ENST00000331433.4	37	c.1297+1	CCDS167.1	1	.	.	.	.	.	.	.	.	.	.	.	22.5	4.304160	0.81136	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9587	0.64166	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CLCNKA	16228883	1.000000	0.71417	0.902000	0.35471	0.552000	0.35366	9.477000	0.97925	1.904000	0.55121	0.313000	0.20887	.	CLCNKA	-	-	ENSG00000186510		0.587	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	35	0.00	0	G		Intron	16356296	16356296	+1	no_errors	ENST00000331433	ensembl	human	known	69_37n	splice_site	21	25.00	7	SNP	1.000	A
CLEC16A	23274	genome.wustl.edu	37	16	11219844	11219844	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:11219844G>A	ENST00000409790.1	+	22	2712	c.2482G>A	c.(2482-2484)Gac>Aac	p.D828N	CLEC16A_ENST00000381822.2_5'Flank|CLEC16A_ENST00000409552.3_Missense_Mutation_p.D810N	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGCCCTCCTGGACCTCCCAAT	0.607																																						dbGAP											1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											170.0	182.0	178.0					16																	11219844		1991	4168	6159	-	-	-	SO:0001583	missense	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2482G>A	16.37:g.11219844G>A	ENSP00000387122:p.Asp828Asn			Nonsense_Mutation	SNP	NULL	p.W71*	ENST00000409790.1	37	c.213	CCDS45409.1	16	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	35|35|35	5.463179|5.463179|5.463179	0.96257|0.96257|0.96257	.|.|.	.|.|.	ENSG00000038532|ENSG00000038532|ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552;ENST00000436973|ENST00000261657|ENST00000428742	T|.|.	0.56611|.|.	0.45|.|.	5.85|5.85|5.85	5.85|5.85|5.85	0.93711|0.93711|0.93711	.|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.77552|0.77552|.	0.4147|0.4147|.	M|M|M	0.76328|0.76328|0.76328	2.33|2.33|2.33	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.69078|.|.	0.997;0.997|.|.	D;D|.|.	0.77004|.|.	0.989;0.942|.|.	T|T|.	0.75955|0.75955|.	-0.3135|-0.3135|.	10|5|.	0.48119|.|.	T|.|.	0.1|.|.	-30.3943|-30.3943|-30.3943	19.1456|19.1456|19.1456	0.93467|0.93467|0.93467	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	828;810|.|.	Q2KHT3;Q2KHT3-2|.|.	CL16A_HUMAN;.|.|.	N|E|X	828;828;810;21|19|71	ENSP00000387122:D828N|.|.	ENSP00000386495:D810N|.|.	D|G|W	+|+|+	1|2|3	0|0|0	CLEC16A|CLEC16A|CLEC16A	11127345|11127345|11127345	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.900000|0.900000|0.900000	0.52787|0.52787|0.52787	9.383000|9.383000|9.383000	0.97214|0.97214|0.97214	2.763000|2.763000|2.763000	0.94921|0.94921|0.94921	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAC|GGA|TGG	CLEC16A	-	NULL	ENSG00000038532		0.607	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	160	0.00	0	G	NM_015226		11219844	11219844	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000428742	ensembl	human	putative	69_37n	nonsense	123	22.64	36	SNP	1.000	A
CLEC9A	283420	genome.wustl.edu	37	12	10205134	10205134	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:10205134C>T	ENST00000355819.1	+	4	555				CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A						positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AATGAAGGTGCATCTATTCTA	0.368																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.-58-95C>T	12.37:g.10205134C>T			B0ZBM2	RNA	SNP	-	NULL	ENST00000355819.1	37	NULL	CCDS8611.1	12																																																																																			CLEC9A	-	-	ENSG00000197992		0.368	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CLEC9A	HGNC	protein_coding	OTTHUMT00000399564.1	33	0.00	0	C	NM_207345		10205134	10205134	+1	no_errors	ENST00000544751	ensembl	human	known	69_37n	rna	35	16.67	7	SNP	0.018	T
CLIP1	6249	genome.wustl.edu	37	12	122758585	122758585	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:122758585C>T	ENST00000540338.1	-	24	4132	c.4091G>A	c.(4090-4092)aGt>aAt	p.S1364N	CLIP1_ENST00000537178.1_Splice_Site_p.S1318N|CLIP1_ENST00000302528.7_Splice_Site_p.S1353N|CLIP1_ENST00000540539.1_Splice_Site_p.S43N|CLIP1_ENST00000361654.4_Splice_Site_p.S1242N|CLIP1_ENST00000545889.1_Splice_Site_p.S939N|CLIP1_ENST00000358808.2_Splice_Site_p.S1353N|CLIP1_ENST00000536634.1_5'UTR			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1364					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TATGAAATACCTGTCATAATT	0.502																																						dbGAP											0													241.0	211.0	221.0					12																	122758585		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.4091+1G>A	12.37:g.122758585C>T			A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.S1364N	ENST00000540338.1	37	c.4091	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	C	18.50	3.636812	0.67130	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540539;ENST00000540338	T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39	5.95	5.95	0.96441	.	0.319205	0.38005	N	0.001851	T	0.25382	0.0617	L	0.47716	1.5	0.48236	D	0.999612	P;P;P	0.44044	0.825;0.825;0.731	P;P;B	0.46026	0.501;0.501;0.304	T	0.00149	-1.1988	9	.	.	.	-10.8005	20.3748	0.98911	0.0:1.0:0.0:0.0	.	1318;1353;1364	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	N	939;1353;1353;1085;397;1318;43;1364	ENSP00000438743:S939N;ENSP00000303585:S1353N;ENSP00000351665:S1353N;ENSP00000445531:S1318N;ENSP00000437617:S43N;ENSP00000439093:S1364N	.	S	-	2	0	CLIP1	121324538	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	4.197000	0.58413	2.817000	0.96982	0.563000	0.77884	AGT	CLIP1	-	NULL	ENSG00000130779		0.502	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	192	0.00	0	C	NM_002956	Missense_Mutation	122758585	122758585	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	missense	215	19.78	53	SNP	1.000	T
CMYA5	202333	genome.wustl.edu	37	5	79028839	79028839	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:79028839C>T	ENST00000446378.2	+	2	4282	c.4251C>T	c.(4249-4251)gaC>gaT	p.D1417D		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1417					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)		CAGAAGAAGACAAGGTGGCAA	0.403																																						dbGAP											0													33.0	33.0	33.0					5																	79028839		1896	4107	6003	-	-	-	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.4251C>T	5.37:g.79028839C>T			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.D1417	ENST00000446378.2	37	c.4251	CCDS47238.1	5																																																																																			CMYA5	-	NULL	ENSG00000164309		0.403	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	145	0.00	0	C	NM_153610		79028839	79028839	+1	no_errors	ENST00000446378	ensembl	human	known	69_37n	silent	68	24.44	22	SNP	0.000	T
CNTNAP2	26047	genome.wustl.edu	37	7	147336229	147336229	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:147336229C>T	ENST00000361727.3	+	13	2445	c.1929C>T	c.(1927-1929)gaC>gaT	p.D643D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	643	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				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)			TGTCTCATGACTTGCAGATGC	0.478										HNSCC(39;0.1)																												dbGAP											0													123.0	121.0	122.0					7																	147336229		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.1929C>T	7.37:g.147336229C>T			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.D643	ENST00000361727.3	37	c.1929	CCDS5889.1	7																																																																																			CNTNAP2	-	NULL	ENSG00000174469		0.478	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	232	0.00	0	C			147336229	147336229	+1	no_errors	ENST00000361727	ensembl	human	known	69_37n	silent	180	19.64	44	SNP	0.997	T
COL14A1	7373	genome.wustl.edu	37	8	121256245	121256245	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:121256245C>T	ENST00000297848.3	+	20	2747	c.2477C>T	c.(2476-2478)aCc>aTc	p.T826I	COL14A1_ENST00000247781.3_Missense_Mutation_p.T731I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T826I	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)			CCTGGAAAAACCTGTAAGTGA	0.473																																						dbGAP											0													95.0	100.0	99.0					8																	121256245		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.2477C>T	8.37:g.121256245C>T	ENSP00000297848:p.Thr826Ile			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.T826I	ENST00000297848.3	37	c.2477	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893855	0.91889	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.79	5.79	0.91817	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.84142	0.5407	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.996	D	0.86542	0.1829	10	0.87932	D	0	.	20.04	0.97581	0.0:1.0:0.0:0.0	.	826;826	Q05707-2;Q05707	.;COEA1_HUMAN	I	826;826;731;639	ENSP00000311809:T826I;ENSP00000297848:T826I;ENSP00000247781:T731I;ENSP00000409461:T639I	ENSP00000247781:T731I	T	+	2	0	COL14A1	121325426	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.736000	0.74811	2.733000	0.93635	0.655000	0.94253	ACC	COL14A1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000187955		0.473	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	282	0.00	0	C	NM_021110		121256245	121256245	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	missense	247	11.43	32	SNP	1.000	T
COL14A1	7373	genome.wustl.edu	37	8	121298139	121298139	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:121298139G>A	ENST00000297848.3	+	33	4277	c.4007G>A	c.(4006-4008)aGt>aAt	p.S1336N	COL14A1_ENST00000247781.3_Missense_Mutation_p.S1241N|COL14A1_ENST00000309791.4_Missense_Mutation_p.S1336N	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)			TATGACCAGAGTGGGGATTTT	0.284																																						dbGAP											0													67.0	69.0	68.0					8																	121298139		2202	4299	6501	-	-	-	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.4007G>A	8.37:g.121298139G>A	ENSP00000297848:p.Ser1336Asn			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.S1336N	ENST00000297848.3	37	c.4007	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075767	0.36662	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.13657	2.57;2.57;2.57	5.08	-1.42	0.08913	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.400107	0.30940	N	0.008570	T	0.05456	0.0144	N	0.08118	0	0.80722	D	1	B	0.17667	0.023	B	0.14023	0.01	T	0.37407	-0.9707	10	0.30078	T	0.28	.	7.8754	0.29590	0.2516:0.5153:0.2332:0.0	.	1336	Q05707	COEA1_HUMAN	N	1336;1336;1241	ENSP00000311809:S1336N;ENSP00000297848:S1336N;ENSP00000247781:S1241N	ENSP00000247781:S1241N	S	+	2	0	COL14A1	121367320	0.623000	0.27094	0.914000	0.36105	0.889000	0.51656	0.203000	0.17315	-0.225000	0.09913	-0.263000	0.10527	AGT	COL14A1	-	superfamily_ConA-like_lec_gl,smart_Laminin_G	ENSG00000187955		0.284	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	235	0.00	0	G	NM_021110		121298139	121298139	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	missense	168	47.34	151	SNP	0.981	A
COL16A1	1307	genome.wustl.edu	37	1	32148561	32148561	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:32148561G>A	ENST00000373672.3	-	37	3028	c.2512C>T	c.(2512-2514)Cct>Tct	p.P838S	COL16A1_ENST00000271069.6_Missense_Mutation_p.P837S|COL16A1_ENST00000373668.3_Missense_Mutation_p.P838S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	838	Collagen-like 4.|Triple-helical region 5 (COL5) with 3 imperfections.				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)		CTGGCCCCAGGAGGTCCCACA	0.577																																					Colon(143;498 1786 21362 25193 36625)	dbGAP											0													55.0	61.0	59.0					1																	32148561		1967	4147	6114	-	-	-	SO:0001583	missense	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.2512C>T	1.37:g.32148561G>A	ENSP00000362776:p.Pro838Ser		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.P837S	ENST00000373672.3	37	c.2509	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109668	0.37242	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715;ENST00000373668	D;D;D;D	0.96587	-4.06;-4.06;-4.06;-3.52	5.06	2.78	0.32641	.	0.408517	0.25329	N	0.031445	D	0.94384	0.8194	M	0.80982	2.52	0.33315	D	0.566602	B;B;B	0.17852	0.024;0.013;0.011	B;B;B	0.20955	0.032;0.018;0.01	D	0.92600	0.6090	10	0.38643	T	0.18	.	5.424	0.16415	0.1287:0.3922:0.4791:0.0	.	838;838;838	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	S	838;837;59;838	ENSP00000362776:P838S;ENSP00000271069:P837S;ENSP00000411457:P59S;ENSP00000362772:P838S	ENSP00000271069:P837S	P	-	1	0	COL16A1	31921148	0.761000	0.28439	0.999000	0.59377	0.650000	0.38633	1.184000	0.32053	1.275000	0.44379	0.563000	0.77884	CCT	COL16A1	-	pfam_Collagen	ENSG00000084636		0.577	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	48	0.00	0	G	NM_001856		32148561	32148561	-1	no_errors	ENST00000271069	ensembl	human	known	69_37n	missense	26	27.78	10	SNP	0.939	A
COL19A1	1310	genome.wustl.edu	37	6	70916618	70916618	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:70916618G>A	ENST00000322773.4	+	50	3339	c.3237G>A	c.(3235-3237)caG>caA	p.Q1079Q	COL19A1_ENST00000393344.1_Silent_p.Q701Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1079	Triple-helical region 6 (COL6).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ACAGAGGACAGAAGGGAGAAA	0.458																																						dbGAP											0													81.0	76.0	78.0					6																	70916618		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3237G>A	6.37:g.70916618G>A			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.Q1079	ENST00000322773.4	37	c.3237	CCDS4970.1	6																																																																																			COL19A1	-	NULL	ENSG00000082293		0.458	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	66	0.00	0	G			70916618	70916618	+1	no_errors	ENST00000322773	ensembl	human	known	69_37n	silent	80	24.53	26	SNP	1.000	A
COL1A2	1278	genome.wustl.edu	37	7	94053756	94053756	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:94053756G>A	ENST00000297268.6	+	41	3144		c.e41+1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|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)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGCTGTGGTGAGTGCTTG	0.468										HNSCC(75;0.22)																												dbGAP											0			GRCh37	CS090287	COL1A2	S							146.0	135.0	139.0					7																	94053756		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2673+1G>A	7.37:g.94053756G>A			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Splice_Site	SNP	-	e41+1	ENST00000297268.6	37	c.2673+1	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940667	0.52972	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2626	0.98452	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL1A2	93891692	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	9.603000	0.98315	2.873000	0.98535	0.563000	0.77884	.	COL1A2	-	-	ENSG00000164692		0.468	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	91	0.00	0	G	NM_000089	Intron	94053756	94053756	+1	no_errors	ENST00000297268	ensembl	human	known	69_37n	splice_site	120	17.81	26	SNP	1.000	A
COPS7A	50813	genome.wustl.edu	37	12	6840233	6840233	+	3'UTR	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:6840233G>A	ENST00000543155.1	+	0	1338				COPS7A_ENST00000534877.1_3'UTR|COPS7A_ENST00000229251.3_3'UTR|COPS7A_ENST00000534947.1_3'UTR|COPS7A_ENST00000539735.1_3'UTR|COPS7A_ENST00000538410.1_Missense_Mutation_p.C235Y	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A						cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						CCCTGGGGATGTGGGGTCCCA	0.567																																						dbGAP											0													72.0	58.0	63.0					12																	6840233		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF193844	CCDS8558.1	12p13.31	2013-03-14	2013-03-14		ENSG00000111652	ENSG00000111652			16758	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A"", ""COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)"""				Standard	NM_001164093		Approved	CSN7A	uc001qqh.3	Q9UBW8	OTTHUMG00000169182	ENST00000543155.1:c.*28G>A	12.37:g.6840233G>A			A8K9A6|Q9NVX3|Q9UJW4	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.C235Y	ENST00000543155.1	37	c.704	CCDS8558.1	12	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483413	0.26598	.	.	ENSG00000111652	ENST00000538410	.	.	.	4.93	-0.805	0.10879	.	.	.	.	.	T	0.42899	0.1223	.	.	.	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.23833	-1.0177	7	0.56958	D	0.05	.	6.7901	0.23695	0.2536:0.3046:0.4417:0.0	.	235	F5H248	.	Y	235	.	ENSP00000439547:C235Y	C	+	2	0	COPS7A	6710494	0.570000	0.26651	0.859000	0.33776	0.821000	0.46438	-0.543000	0.06084	-0.025000	0.13918	-0.123000	0.14984	TGT	COPS7A	-	NULL	ENSG00000111652		0.567	COPS7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS7A	HGNC	protein_coding	OTTHUMT00000402740.1	45	0.00	0	G			6840233	6840233	+1	no_errors	ENST00000538410	ensembl	human	novel	69_37n	missense	49	34.67	26	SNP	0.902	A
COX14	84987	genome.wustl.edu	37	12	50513876	50513876	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:50513876C>T	ENST00000550487.1	+	2	381	c.50C>T	c.(49-51)aCc>aTc	p.T17I	COX14_ENST00000317943.2_Missense_Mutation_p.T17I|RP4-605O3.4_ENST00000552815.1_RNA|COX14_ENST00000548985.1_Missense_Mutation_p.T17I|COX14_ENST00000550654.1_Missense_Mutation_p.T17I	NM_001257134.1|NM_032901.3	NP_001244063.1|NP_116290.1	Q96I36	COX14_HUMAN	cytochrome c oxidase assembly homolog 14 (S. cerevisiae)	17					mitochondrial respiratory chain complex IV assembly (GO:0033617)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											ACCTTCTCTACCTCCATGATG	0.522																																						dbGAP											0													118.0	105.0	110.0					12																	50513876		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8800.1	12q13.12	2012-10-15	2012-10-15	2012-02-23		ENSG00000178449		"""Mitochondrial respiratory chain complex assembly factors"""	28216	protein-coding gene	gene with protein product		614478	"""chromosome 12 open reading frame 62"", ""COX14 cytochrome c oxidase assembly homolog (S. cerevisiae)"""	C12orf62		22243966, 22356826	Standard	NM_032901		Approved	MGC14288	uc031qhh.1	Q96I36		ENST00000550487.1:c.50C>T	12.37:g.50513876C>T	ENSP00000446524:p.Thr17Ile		B2R5G6	Missense_Mutation	SNP	NULL	p.T17I	ENST00000550487.1	37	c.50	CCDS8800.1	12	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863434	0.51482	.	.	ENSG00000178449	ENST00000550487;ENST00000317943;ENST00000550654;ENST00000548985	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	5.85	3.9	0.45041	.	0.595463	0.16150	N	0.227285	T	0.67392	0.2888	.	.	.	0.26345	N	0.977306	B	0.22983	0.078	B	0.21151	0.033	T	0.62369	-0.6869	9	0.72032	D	0.01	-8.2201	8.8532	0.35212	0.0:0.6916:0.2254:0.0829	.	17	Q96I36	CL062_HUMAN	I	17	ENSP00000446524:T17I;ENSP00000326052:T17I;ENSP00000450331:T17I;ENSP00000447776:T17I	ENSP00000326052:T17I	T	+	2	0	C12orf62	48800143	0.968000	0.33430	0.900000	0.35374	0.948000	0.59901	1.720000	0.38022	1.602000	0.50124	0.655000	0.94253	ACC	COX14	-	NULL	ENSG00000178449		0.522	COX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX14	HGNC	protein_coding	OTTHUMT00000406024.2	79	0.00	0	C	NM_032901		50513876	50513876	+1	no_errors	ENST00000317943	ensembl	human	known	69_37n	missense	58	30.95	26	SNP	0.953	T
COX14	84987	genome.wustl.edu	37	12	50513913	50513913	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:50513913C>T	ENST00000550487.1	+	2	418	c.87C>T	c.(85-87)ctC>ctT	p.L29L	COX14_ENST00000317943.2_Silent_p.L29L|RP4-605O3.4_ENST00000552815.1_RNA|COX14_ENST00000548985.1_Silent_p.L29L|COX14_ENST00000550654.1_Silent_p.L29L	NM_001257134.1|NM_032901.3	NP_001244063.1|NP_116290.1	Q96I36	COX14_HUMAN	cytochrome c oxidase assembly homolog 14 (S. cerevisiae)	29					mitochondrial respiratory chain complex IV assembly (GO:0033617)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											GGGGGTACCTCTGCAGTGTCC	0.542																																						dbGAP											0													107.0	95.0	99.0					12																	50513913		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8800.1	12q13.12	2012-10-15	2012-10-15	2012-02-23		ENSG00000178449		"""Mitochondrial respiratory chain complex assembly factors"""	28216	protein-coding gene	gene with protein product		614478	"""chromosome 12 open reading frame 62"", ""COX14 cytochrome c oxidase assembly homolog (S. cerevisiae)"""	C12orf62		22243966, 22356826	Standard	NM_032901		Approved	MGC14288	uc031qhh.1	Q96I36		ENST00000550487.1:c.87C>T	12.37:g.50513913C>T			B2R5G6	Silent	SNP	NULL	p.L29	ENST00000550487.1	37	c.87	CCDS8800.1	12																																																																																			COX14	-	NULL	ENSG00000178449		0.542	COX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX14	HGNC	protein_coding	OTTHUMT00000406024.2	75	0.00	0	C	NM_032901		50513913	50513913	+1	no_errors	ENST00000317943	ensembl	human	known	69_37n	silent	49	36.36	28	SNP	1.000	T
COX7C	1350	genome.wustl.edu	37	5	85913776	85913776	+	5'UTR	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:85913776C>T	ENST00000509578.1	+	0	4				COX7C_ENST00000515763.1_5'Flank|COX7C_ENST00000247655.3_5'UTR|MIR3607_ENST00000362392.1_RNA			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc						cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		TCCTTGCGCACCGGGGAACAA	0.527																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			BC001005	CCDS4063.1	5q14	2011-07-04			ENSG00000127184	ENSG00000127184	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2292	protein-coding gene	gene with protein product		603774				10072584	Standard	NM_001867		Approved		uc003kir.3	P15954	OTTHUMG00000119049	ENST00000509578.1:c.-97C>T	5.37:g.85913776C>T			Q6NR81	RNA	SNP	-	NULL	ENST00000509578.1	37	NULL	CCDS4063.1	5																																																																																			COX7C	-	-	ENSG00000127184		0.527	COX7C-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	COX7C	HGNC	protein_coding	OTTHUMT00000369746.1	14	0.00	0	C	NM_001867		85913776	85913776	+1	no_errors	ENST00000505430	ensembl	human	known	69_37n	rna	11	31.25	5	SNP	0.000	T
CPE	1363	genome.wustl.edu	37	4	166385682	166385682	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:166385682C>T	ENST00000402744.4	+	2	728	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	150					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCACAGTACCCGCATTCACAT	0.512											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													187.0	156.0	167.0					4																	166385682		2203	4300	6503	-	-	-	SO:0001583	missense	0			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.448C>T	4.37:g.166385682C>T	ENSP00000386104:p.Arg150Cys	1854	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Missense_Mutation	SNP	pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14	p.R150C	ENST00000402744.4	37	c.448	CCDS3810.1	4	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537393	0.85917	.	.	ENSG00000109472	ENST00000513982;ENST00000402744;ENST00000261510;ENST00000431967;ENST00000511992	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.3	5.3	0.74995	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62973	-0.6740	10	0.87932	D	0	-13.6776	18.9352	0.92583	0.0:1.0:0.0:0.0	.	150	P16870	CBPE_HUMAN	C	38;150;114;38;38	ENSP00000424830:R38C;ENSP00000386104:R150C;ENSP00000416601:R38C;ENSP00000423699:R38C	ENSP00000261510:R114C	R	+	1	0	CPE	166605132	1.000000	0.71417	0.384000	0.26145	0.763000	0.43281	6.028000	0.70889	2.483000	0.83821	0.585000	0.79938	CGC	CPE	-	pfam_Peptidase_M14	ENSG00000109472		0.512	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPE	HGNC	protein_coding	OTTHUMT00000317094.2	118	0.00	0	C	NM_001873		166385682	166385682	+1	no_errors	ENST00000402744	ensembl	human	known	69_37n	missense	107	12.30	15	SNP	1.000	T
CPNE1	8904	genome.wustl.edu	37	20	34214714	34214714	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:34214714C>T	ENST00000317619.3	-	17	1642	c.1248G>A	c.(1246-1248)atG>atA	p.M416I	CPNE1_ENST00000397442.1_Missense_Mutation_p.M416I|CPNE1_ENST00000397445.1_Missense_Mutation_p.M416I|CPNE1_ENST00000317677.5_Missense_Mutation_p.M421I|CPNE1_ENST00000352393.4_Missense_Mutation_p.M416I|CPNE1_ENST00000397443.1_Missense_Mutation_p.M416I|CPNE1_ENST00000397446.1_Missense_Mutation_p.M416I			Q99829	CPNE1_HUMAN	copine I	416	VWFA.				lipid metabolic process (GO:0006629)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GCAGCAACAGCATGAAGTATT	0.547																																						dbGAP											0													126.0	88.0	101.0					20																	34214714		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83246	CCDS13260.1, CCDS46595.1	20q11.22	2009-06-01			ENSG00000214078	ENSG00000214078			2314	protein-coding gene	gene with protein product		604205				9430674	Standard	NM_152925		Approved	CPN1	uc002xdm.3	Q99829	OTTHUMG00000032356	ENST00000317619.3:c.1248G>A	20.37:g.34214714C>T	ENSP00000326126:p.Met416Ile		E1P5Q4|Q6IBL3|Q9H243|Q9NTZ7	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.M421I	ENST00000317619.3	37	c.1263	CCDS13260.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.529|9.529	1.110213|1.110213	0.20714|0.20714	.|.	.|.	ENSG00000214078|ENSG00000214078	ENST00000415920|ENST00000352393;ENST00000317677;ENST00000317619;ENST00000397446;ENST00000397445;ENST00000397443;ENST00000397442;ENST00000437340	.|T;T;T;T;T;T;T;T	.|0.16196	.|2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36	5.27|5.27	4.32|4.32	0.51571|0.51571	.|von Willebrand factor, type A (1);Copine (1);	.|0.000000	.|0.64402	.|U	.|0.000001	T|T	0.01800|0.01800	0.0057|0.0057	N|N	0.00004|0.00004	-3.355|-3.355	0.20489|0.20489	N|N	0.999898|0.999898	.|B;B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0;0.0	.|B;B;B;B;B	.|0.08055	.|0.001;0.0;0.0;0.003;0.003	T|T	0.34976|0.34976	-0.9807|-0.9807	6|10	0.87932|0.11182	D|T	0|0.66	-3.4869|-3.4869	9.5708|9.5708	0.39427|0.39427	0.0:0.7775:0.143:0.0795|0.0:0.7775:0.143:0.0795	.|.	.|421;416;416;396;415	.|B0QZ18;A6PVH9;Q99829;Q59EI4;F2Z2V0	.|.;.;CPNE1_HUMAN;.;.	Y|I	55|416;421;416;416;416;416;416;415	.|ENSP00000336945:M416I;ENSP00000317257:M421I;ENSP00000326126:M416I;ENSP00000380588:M416I;ENSP00000380587:M416I;ENSP00000380585:M416I;ENSP00000380584:M416I;ENSP00000415597:M415I	ENSP00000386067:C424Y|ENSP00000326126:M416I	C|M	-|-	2|3	0|0	CPNE1|CPNE1	33678128|33678128	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.373000|0.373000	0.20484|0.20484	1.423000|1.423000	0.47198|0.47198	0.563000|0.563000	0.77884|0.77884	TGC|ATG	CPNE1	-	pfam_Copine,smart_VWF_A	ENSG00000214078		0.547	CPNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE1	HGNC	protein_coding	OTTHUMT00000078909.3	80	0.00	0	C	NM_152930		34214714	34214714	-1	no_errors	ENST00000317677	ensembl	human	known	69_37n	missense	39	48.68	37	SNP	1.000	T
CPSF1	29894	genome.wustl.edu	37	8	145634420	145634420	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:145634420G>A	ENST00000349769.3	-	2	217	c.123C>T	c.(121-123)taC>taT	p.Y41Y	GS1-393G12.14_ENST00000607491.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	41					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGTTGAGGCGGTACACGTAGA	0.662																																					NSCLC(133;1088 1848 27708 34777 35269)	dbGAP											0													102.0	100.0	100.0					8																	145634420		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.123C>T	8.37:g.145634420G>A			Q96AF0	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.Y41	ENST00000349769.3	37	c.123	CCDS34966.1	8																																																																																			CPSF1	-	NULL	ENSG00000071894		0.662	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	17	0.00	0	G	NM_013291		145634420	145634420	-1	no_errors	ENST00000349769	ensembl	human	known	69_37n	silent	12	57.14	16	SNP	1.000	A
CREB3L3	84699	genome.wustl.edu	37	19	4170160	4170161	+	Missense_Mutation	DNP	AT	AT	GG			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A|T	A|T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:4170160_4170161AT>GG	ENST00000078445.2	+	7	992_993	c.845_846AT>GG	c.(844-846)aAT>aGG	p.N282R	CREB3L3_ENST00000602257.1_Missense_Mutation_p.N280R|CREB3L3_ENST00000602147.1_Missense_Mutation_p.S247A|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000595923.1_Missense_Mutation_p.N281R	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	282	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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 positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACTGCTCAGAATCAGGAGTTAC	0.559																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		Exception_encountered	19.37:g.4170160_4170161delinsGG	ENSP00000078445:p.Asn282Arg		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.N282S|p.N282K	ENST00000078445.2	37	c.845|c.846	CCDS12121.1	19																																																																																			CREB3L3	-	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	ENSG00000060566		0.559	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB3L3	HGNC	protein_coding	OTTHUMT00000457922.1	63	0.00	0	A|T	NM_032607		4170160|4170161	4170160|4170161	+1	no_errors	ENST00000078445	ensembl	human	known	69_37n	missense	32	31.91|36.00	15|18	SNP	1.000	G
CRYBB3	1417	genome.wustl.edu	37	22	25598725	25598725	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:25598725G>A	ENST00000215855.2	+	3	240	c.160G>A	c.(160-162)Gag>Aag	p.E54K	CRYBB3_ENST00000404334.1_Missense_Mutation_p.E54K	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	54	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						CAGCCTGCTGGAGAAGGTGGG	0.617											OREG0026423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													57.0	55.0	56.0					22																	25598725		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.160G>A	22.37:g.25598725G>A	ENSP00000215855:p.Glu54Lys	780	Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E54K	ENST00000215855.2	37	c.160	CCDS13830.1	22	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215785	0.79352	.	.	ENSG00000100053	ENST00000215855;ENST00000404334	T;T	0.76316	-0.89;-1.01	4.54	4.54	0.55810	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.170222	0.50627	D	0.000108	T	0.75481	0.3855	L	0.51422	1.61	0.53005	D	0.999968	B	0.18310	0.027	B	0.30855	0.121	T	0.72931	-0.4142	10	0.40728	T	0.16	.	15.8647	0.79055	0.0:0.0:1.0:0.0	.	54	P26998	CRBB3_HUMAN	K	54	ENSP00000215855:E54K;ENSP00000386123:E54K	ENSP00000215855:E54K	E	+	1	0	CRYBB3	23928725	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.167000	0.71902	2.073000	0.62155	0.555000	0.69702	GAG	CRYBB3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin	ENSG00000100053		0.617	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBB3	HGNC	protein_coding	OTTHUMT00000320352.1	40	0.00	0	G	NM_004076		25598725	25598725	+1	no_errors	ENST00000215855	ensembl	human	known	69_37n	missense	37	27.45	14	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113349820	113349820	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:113349820G>A	ENST00000297405.5	-	43	7037	c.6793C>T	c.(6793-6795)Ctt>Ttt	p.L2265F	CSMD3_ENST00000455883.2_Missense_Mutation_p.L2161F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L2225F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L2195F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2265	Sushi 12. {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						ACTCCGTGAAGGCATGTGAGA	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											0													102.0	99.0	100.0					8																	113349820		2203	4300	6503	-	-	-	SO:0001583	missense	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.6793C>T	8.37:g.113349820G>A	ENSP00000297405:p.Leu2265Phe		Q96PZ3	Missense_Mutation	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.L2265F	ENST00000297405.5	37	c.6793	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858435	0.71834	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.45	5.45	0.79879	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000015	D	0.82277	0.5002	M	0.84219	2.685	0.48632	D	0.999688	D;D;D	0.89917	1.0;1.0;0.993	D;D;D	0.91635	0.999;0.999;0.921	T	0.77253	-0.2656	10	0.12766	T	0.61	.	19.4929	0.95059	0.0:0.0:1.0:0.0	.	2161;2265;2225	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	2225;2265;1535;2161;2195	ENSP00000345799:L2225F;ENSP00000297405:L2265F;ENSP00000341558:L1535F;ENSP00000412263:L2161F;ENSP00000343124:L2195F	ENSP00000297405:L2265F	L	-	1	0	CSMD3	113418996	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.360000	0.73064	2.835000	0.97688	0.650000	0.86243	CTT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	148	0.00	0	G	NM_052900		113349820	113349820	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	missense	106	20.90	28	SNP	1.000	A
CSRNP1	64651	genome.wustl.edu	37	3	39185506	39185506	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:39185506G>A	ENST00000273153.5	-	5	987	c.810C>T	c.(808-810)tgC>tgT	p.C270C	CSRNP1_ENST00000514182.1_Silent_p.C270C	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	270	Cys-rich.				apoptotic process (GO:0006915)|face morphogenesis (GO:0060325)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)	nucleus (GO:0005634)	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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CCTCCCTGCAGCAGCCACAGG	0.552																																						dbGAP											0													36.0	36.0	36.0					3																	39185506		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB053121	CCDS2682.1	3p22	2009-04-17	2009-04-17	2009-04-17	ENSG00000144655	ENSG00000144655			14300	protein-coding gene	gene with protein product		606458	"""AXIN1 up-regulated 1"""	AXUD1		11526492, 17726538	Standard	NM_033027		Approved	URAX1, DKFZp566F164, FAM130B, TAIP-3	uc003cjg.3	Q96S65	OTTHUMG00000131293	ENST00000273153.5:c.810C>T	3.37:g.39185506G>A			Q69YY5	Silent	SNP	prints_Cys/Ser-rich_nuc_prot	p.C270	ENST00000273153.5	37	c.810	CCDS2682.1	3																																																																																			CSRNP1	-	NULL	ENSG00000144655		0.552	CSRNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRNP1	HGNC	protein_coding	OTTHUMT00000254061.1	90	0.00	0	G	NM_033027		39185506	39185506	-1	no_errors	ENST00000273153	ensembl	human	known	69_37n	silent	43	17.31	9	SNP	1.000	A
CTBP2	1488	genome.wustl.edu	37	10	126682487	126682487	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:126682487T>A	ENST00000337195.5	-	8	1247	c.848A>T	c.(847-849)cAa>cTa	p.Q283L	CTBP2_ENST00000334808.6_Missense_Mutation_p.Q351L|CTBP2_ENST00000531469.1_Missense_Mutation_p.Q283L|CTBP2_ENST00000309035.6_Missense_Mutation_p.Q823L|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q283L|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q283L	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTGAGGGCTTGTGCTAAGGC	0.617																																						dbGAP											0													94.0	97.0	96.0					10																	126682487		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.848A>T	10.37:g.126682487T>A	ENSP00000338615:p.Gln283Leu		A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.Q823L	ENST00000337195.5	37	c.2468	CCDS7643.1	10	.	.	.	.	.	.	.	.	.	.	T	18.50	3.636724	0.67130	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	4.93	4.93	0.64822	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	L	0.39085	1.19	0.58432	D	0.999999	B;B;B	0.29646	0.154;0.253;0.131	B;B;B	0.38056	0.066;0.264;0.109	T	0.78018	-0.2368	10	0.66056	D	0.02	.	14.5874	0.68335	0.0:0.0:0.0:1.0	.	283;823;351	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	L	283;823;351;283;283;283	ENSP00000338615:Q283L;ENSP00000311825:Q823L;ENSP00000357816:Q351L;ENSP00000434630:Q283L;ENSP00000436285:Q283L;ENSP00000410474:Q283L	ENSP00000311825:Q823L	Q	-	2	0	CTBP2	126672477	1.000000	0.71417	0.983000	0.44433	0.989000	0.77384	7.694000	0.84235	1.846000	0.53633	0.459000	0.35465	CAA	CTBP2	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	ENSG00000175029		0.617	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	94	0.00	0	T	NM_001083914		126682487	126682487	-1	no_errors	ENST00000309035	ensembl	human	known	69_37n	missense	74	21.28	20	SNP	1.000	A
CTNNBL1	56259	genome.wustl.edu	37	20	36361410	36361410	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:36361410G>A	ENST00000361383.6	+	2	277	c.160G>A	c.(160-162)Gat>Aat	p.D54N	CTNNBL1_ENST00000405275.2_Missense_Mutation_p.D27N	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	54					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)				GGAAGCGGATGATGACAAAAA	0.537																																					Ovarian(184;582 2038 3273 4106 42608)	dbGAP											0													63.0	54.0	57.0					20																	36361410		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.160G>A	20.37:g.36361410G>A	ENSP00000355050:p.Asp54Asn		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.D27N	ENST00000361383.6	37	c.79	CCDS13298.1	20	.	.	.	.	.	.	.	.	.	.	G	17.93	3.510220	0.64522	.	.	ENSG00000132792	ENST00000361383;ENST00000447935;ENST00000405275	T;T	0.44881	0.95;0.91	5.04	5.04	0.67666	Armadillo-like helical (1);Domain of unknown function DUF1716, eukaryotic (1);	0.164623	0.53938	D	0.000041	T	0.36276	0.0961	N	0.08118	0	0.80722	D	1	B;P	0.51240	0.229;0.943	B;P	0.53912	0.124;0.737	T	0.15378	-1.0439	10	0.18276	T	0.48	-24.5113	17.5428	0.87853	0.0:0.0:1.0:0.0	.	54;27	Q8WYA6;A2A2P1	CTBL1_HUMAN;.	N	54;27;27	ENSP00000355050:D54N;ENSP00000384355:D27N	ENSP00000355050:D54N	D	+	1	0	CTNNBL1	35794824	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	7.720000	0.84759	2.606000	0.88127	0.561000	0.74099	GAT	CTNNBL1	-	pfam_DUF1716_euk	ENSG00000132792		0.537	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	63	0.00	0	G	NM_030877		36361410	36361410	+1	no_errors	ENST00000405275	ensembl	human	known	69_37n	missense	74	13.95	12	SNP	1.000	A
CTCFL	140690	genome.wustl.edu	37	20	56093764	56093764	+	Intron	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:56093764G>A	ENST00000608263.1	-	4	1721				CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000243914.3_Intron|CTCFL_ENST00000608440.1_Intron|CTCFL_ENST00000608425.1_Intron|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000481655.2_Missense_Mutation_p.A370V|CTCFL_ENST00000422869.2_Intron|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000429804.3_Intron|CTCFL_ENST00000371196.2_Intron|CTCFL_ENST00000609232.1_Intron|CTCFL_ENST00000608158.1_Missense_Mutation_p.A370V|CTCFL_ENST00000423479.3_Intron|CTCFL_ENST00000502686.2_Intron	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AACTTGTACAGCAGCCTCTAC	0.363																																						dbGAP											0													142.0	140.0	141.0					20																	56093764		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1059+49C>T	20.37:g.56093764G>A			A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	RNA	SNP	-	NULL	ENST00000608263.1	37	NULL	CCDS13459.1	20																																																																																			CTCFL	-	-	ENSG00000124092		0.363	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	114	0.00	0	G	NM_080618		56093764	56093764	-1	no_errors	ENST00000481655	ensembl	human	known	69_37n	rna	138	14.29	23	SNP	0.000	A
CTR9	9646	genome.wustl.edu	37	11	10792046	10792046	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:10792046G>A	ENST00000361367.2	+	18	2665	c.2239G>A	c.(2239-2241)Gca>Aca	p.A747T		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	747					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TAGACATGTGGCACCCAGTGA	0.353																																						dbGAP											0													124.0	129.0	127.0					11																	10792046		2201	4294	6495	-	-	-	SO:0001583	missense	0			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2239G>A	11.37:g.10792046G>A	ENSP00000355013:p.Ala747Thr		D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A747T	ENST00000361367.2	37	c.2239	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731432	0.89390	.	.	ENSG00000198730	ENST00000361367	T	0.74421	-0.84	6.02	6.02	0.97574	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.76938	2.355	0.80722	D	1	P	0.41546	0.754	B	0.30943	0.122	T	0.76476	-0.2945	10	0.42905	T	0.14	-20.1196	20.5407	0.99260	0.0:0.0:1.0:0.0	.	747	Q6PD62	CTR9_HUMAN	T	747	ENSP00000355013:A747T	ENSP00000355013:A747T	A	+	1	0	CTR9	10748622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	GCA	CTR9	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000198730		0.353	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	235	0.00	0	G	NM_014633		10792046	10792046	+1	no_errors	ENST00000361367	ensembl	human	known	69_37n	missense	191	27.10	71	SNP	1.000	A
CUBN	8029	genome.wustl.edu	37	10	16957101	16957101	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:16957101C>T	ENST00000377833.4	-	47	7346	c.7281G>A	c.(7279-7281)gtG>gtA	p.V2427V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2427	CUB 17. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAAACCTGACCACAGCAGTAT	0.423																																						dbGAP											0													115.0	99.0	104.0					10																	16957101		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.7281G>A	10.37:g.16957101C>T			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.V2427	ENST00000377833.4	37	c.7281	CCDS7113.1	10																																																																																			CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	187	0.53	1	C	NM_001081		16957101	16957101	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	silent	88	19.27	21	SNP	0.926	T
CUBN	8029	genome.wustl.edu	37	10	17146500	17146500	+	Silent	SNP	T	T	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:17146500T>A	ENST00000377833.4	-	12	1400	c.1335A>T	c.(1333-1335)ggA>ggT	p.G445G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	445	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAACACAAGTTCCTCCATTCA	0.448																																						dbGAP											0													161.0	116.0	131.0					10																	17146500		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1335A>T	10.37:g.17146500T>A			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.G445	ENST00000377833.4	37	c.1335	CCDS7113.1	10																																																																																			CUBN	-	pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000107611		0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	97	0.00	0	T	NM_001081		17146500	17146500	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	silent	56	20.00	14	SNP	0.518	A
CXCL3	2921	genome.wustl.edu	37	4	74904187	74904187	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:74904187C>T	ENST00000296026.4	-	1	178				CXCL3_ENST00000511669.1_Intron	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3						immune response (GO:0006955)|inflammatory response (GO:0006954)|neutrophil chemotaxis (GO:0030593)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			GCGCCCACCCCAGCCGCGTCC	0.731																																						dbGAP											0													17.0	21.0	20.0					4																	74904187		2188	4284	6472	-	-	-	SO:0001627	intron_variant	0			M36821	CCDS34007.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000163734		"""Endogenous ligands"""	4604	protein-coding gene	gene with protein product		139111	"""GRO3 oncogene"""	GRO3		2217207	Standard	NM_002090		Approved	SCYB3, GROg, MIP-2b, CINC-2b	uc003hhl.3	P19876		ENST00000296026.4:c.100+41G>A	4.37:g.74904187C>T			Q4W5H9	RNA	SNP	-	NULL	ENST00000296026.4	37	NULL	CCDS34007.1	4																																																																																			CXCL3	-	-	ENSG00000163734		0.731	CXCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL3	HGNC	protein_coding	OTTHUMT00000362721.1	22	0.00	0	C			74904187	74904187	-1	no_errors	ENST00000502974	ensembl	human	putative	69_37n	rna	13	50.00	13	SNP	0.000	T
CXCR2P1	3580	genome.wustl.edu	37	2	218925437	218925437	+	RNA	SNP	A	A	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:218925437A>T	ENST00000439871.1	-	0	943					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		TAAACAGCGTATGCAGGGTGA	0.532																																						dbGAP											0																																										-	-	-			0			M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925437A>T				RNA	SNP	-	NULL	ENST00000439871.1	37	NULL		2																																																																																			CXCR2P1	-	-	ENSG00000229754		0.532	CXCR2P1-002	KNOWN	basic	processed_transcript	CXCR2P1	HGNC	pseudogene	OTTHUMT00000338985.1	101	0.00	0	A	NR_002712		218925437	218925437	-1	no_errors	ENST00000439871	ensembl	human	known	69_37n	rna	45	22.41	13	SNP	0.000	T
CYB5R1	51706	genome.wustl.edu	37	1	202934483	202934483	+	Intron	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:202934483G>A	ENST00000367249.4	-	5	550				CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1						sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	GGCTCAAGGAGAAGACAGGTC	0.532																																						dbGAP											0													235.0	225.0	228.0					1																	202934483		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.475+15C>T	1.37:g.202934483G>A			A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	RNA	SNP	-	NULL	ENST00000367249.4	37	NULL	CCDS1431.1	1																																																																																			CYB5R1	-	-	ENSG00000159348		0.532	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	235	0.00	0	G	NM_016243		202934483	202934483	-1	no_errors	ENST00000497655	ensembl	human	known	69_37n	rna	187	11.37	24	SNP	0.001	A
CYP4F22	126410	genome.wustl.edu	37	19	15655008	15655008	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:15655008G>A	ENST00000269703.3	+	10	1253	c.1054G>A	c.(1054-1056)Gca>Aca	p.A352T	CYP4F22_ENST00000601005.2_Missense_Mutation_p.A352T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	352						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	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 (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GTTCAATTTGGCAAAGTATCC	0.527																																						dbGAP											0													109.0	101.0	103.0					19																	15655008		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.1054G>A	19.37:g.15655008G>A	ENSP00000269703:p.Ala352Thr		Q8N8H4	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.A352T	ENST00000269703.3	37	c.1054	CCDS12331.1	19	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839689	0.71488	.	.	ENSG00000171954	ENST00000269703	T	0.72835	-0.69	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.92555	3.32	0.80722	D	1	D	0.67145	0.996	D	0.63283	0.913	D	0.90031	0.4135	10	0.87932	D	0	.	16.2533	0.82498	0.0:0.0:1.0:0.0	.	352	Q6NT55	CP4FN_HUMAN	T	352	ENSP00000269703:A352T	ENSP00000269703:A352T	A	+	1	0	CYP4F22	15516008	1.000000	0.71417	0.978000	0.43139	0.243000	0.25628	7.338000	0.79269	2.434000	0.82447	0.609000	0.83330	GCA	CYP4F22	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000171954		0.527	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4F22	HGNC	protein_coding	OTTHUMT00000461338.2	107	0.00	0	G	NM_173483		15655008	15655008	+1	no_errors	ENST00000269703	ensembl	human	known	69_37n	missense	131	13.82	21	SNP	1.000	A
CYSLTR1	10800	genome.wustl.edu	37	X	77528532	77528532	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:77528532C>T	ENST00000373304.3	-	3	1004	c.712G>A	c.(712-714)Gtg>Atg	p.V238M		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	238					defense response (GO:0006952)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|respiratory gaseous exchange (GO:0007585)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene receptor activity (GO:0004974)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GCAGCGGTCACGACCATGATC	0.333																																						dbGAP											0													100.0	90.0	93.0					X																	77528532		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF119711	CCDS14439.1	Xq13-q21	2012-08-10			ENSG00000173198	ENSG00000173198		"""GPCR / Class A : Leukotriene receptors"""	17451	protein-coding gene	gene with protein product		300201				10391245, 10462554	Standard	NM_006639		Approved	CysLT1, CysLT(1), CYSLT1R	uc004edb.3	Q9Y271	OTTHUMG00000021889	ENST00000373304.3:c.712G>A	X.37:g.77528532C>T	ENSP00000362401:p.Val238Met		B2R954|D3DTE4|Q5JS94|Q8IV19	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.V238M	ENST00000373304.3	37	c.712	CCDS14439.1	X	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526696	0.27299	.	.	ENSG00000173198	ENST00000373304	T	0.46063	0.88	4.15	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.064498	0.64402	D	0.000011	T	0.66247	0.2770	M	0.85373	2.75	0.42041	D	0.991078	D	0.89917	1.0	D	0.79784	0.993	T	0.73216	-0.4053	10	0.72032	D	0.01	.	12.8919	0.58076	0.0:1.0:0.0:0.0	.	238	Q9Y271	CLTR1_HUMAN	M	238	ENSP00000362401:V238M	ENSP00000362401:V238M	V	-	1	0	CYSLTR1	77415188	1.000000	0.71417	0.969000	0.41365	0.015000	0.08874	5.714000	0.68422	1.893000	0.54813	0.468000	0.43344	GTG	CYSLTR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000173198		0.333	CYSLTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR1	HGNC	protein_coding	OTTHUMT00000057315.1	195	0.00	0	C			77528532	77528532	-1	no_errors	ENST00000373304	ensembl	human	known	69_37n	missense	172	41.50	122	SNP	0.981	T
DAPK2	23604	genome.wustl.edu	37	15	64332425	64332425	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:64332425C>T	ENST00000457488.1	-	2	66	c.36G>A	c.(34-36)gaG>gaA	p.E12E	DAPK2_ENST00000261891.3_Silent_p.E12E|DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Silent_p.E12E	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	12					anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GCTTGAATGGCTCCATGTTTG	0.517																																						dbGAP											0													199.0	163.0	175.0					15																	64332425		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.36G>A	15.37:g.64332425C>T			E9JGM7|O75892|Q24JS1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E12	ENST00000457488.1	37	c.36	CCDS10188.1	15																																																																																			DAPK2	-	superfamily_Kinase-like_dom	ENSG00000035664		0.517	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK2	HGNC	protein_coding	OTTHUMT00000256479.1	169	0.00	0	C	NM_014326		64332425	64332425	-1	no_errors	ENST00000261891	ensembl	human	known	69_37n	silent	67	10.67	8	SNP	0.975	T
DBNL	28988	genome.wustl.edu	37	7	44100559	44100559	+	3'UTR	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:44100559C>T	ENST00000448521.1	+	0	1435				DBNL_ENST00000494774.1_3'UTR|DBNL_ENST00000490734.2_3'UTR|DBNL_ENST00000440166.1_3'UTR|DBNL_ENST00000452943.1_3'UTR|DBNL_ENST00000468694.1_3'UTR|DBNL_ENST00000497184.1_3'UTR	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ACATGGCTTCCTTATTGCTGG	0.582																																					NSCLC(68;573 1327 18604 34760 37992)	dbGAP											0													61.0	50.0	54.0					7																	44100559		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.*44C>T	7.37:g.44100559C>T			A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	RNA	SNP	-	NULL	ENST00000448521.1	37	NULL	CCDS34623.1	7																																																																																			DBNL	-	-	ENSG00000136279		0.582	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBNL	HGNC	protein_coding	OTTHUMT00000339572.2	16	0.00	0	C	NM_014063		44100559	44100559	+1	no_errors	ENST00000497184	ensembl	human	known	69_37n	rna	25	57.63	34	SNP	0.000	T
DCAF5	8816	genome.wustl.edu	37	14	69520915	69520915	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:69520915C>T	ENST00000341516.5	-	9	2635	c.2488G>A	c.(2488-2490)Gcc>Acc	p.A830T	DCAF5_ENST00000554215.1_Missense_Mutation_p.A748T|DCAF5_ENST00000556847.1_Missense_Mutation_p.A748T|DCAF5_ENST00000557386.1_Missense_Mutation_p.A829T|DCAF5_ENST00000553293.1_5'Flank	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	830					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						TTGTGGTTGGCACAGATGGTT	0.592																																						dbGAP											0													153.0	144.0	147.0					14																	69520915		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.2488G>A	14.37:g.69520915C>T	ENSP00000341351:p.Ala830Thr		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.A830T	ENST00000341516.5	37	c.2488	CCDS32106.1	14	.	.	.	.	.	.	.	.	.	.	C	10.49	1.366206	0.24684	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.67171	-0.25;-0.07;-0.07;0.4	5.09	4.17	0.49024	.	0.161882	0.39341	N	0.001388	T	0.42743	0.1216	N	0.12182	0.205	0.80722	D	1	B;B	0.12013	0.005;0.003	B;B	0.10450	0.005;0.002	T	0.31447	-0.9943	10	0.20519	T	0.43	-16.458	7.4975	0.27498	0.0:0.6877:0.1576:0.1547	.	829;830	G3V4J7;Q96JK2	.;DCAF5_HUMAN	T	830;748;748;829	ENSP00000341351:A830T;ENSP00000451551:A748T;ENSP00000452052:A748T;ENSP00000451845:A829T	ENSP00000341351:A830T	A	-	1	0	DCAF5	68590668	0.996000	0.38824	1.000000	0.80357	0.991000	0.79684	0.862000	0.27899	2.648000	0.89879	0.561000	0.74099	GCC	DCAF5	-	NULL	ENSG00000139990		0.592	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF5	HGNC	protein_coding	OTTHUMT00000414806.2	45	0.00	0	C	NM_003861		69520915	69520915	-1	no_errors	ENST00000341516	ensembl	human	known	69_37n	missense	72	34.55	38	SNP	1.000	T
DCAF8	50717	genome.wustl.edu	37	1	160209851	160209851	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:160209851C>T	ENST00000368073.3	-	4	793	c.359G>A	c.(358-360)cGc>cAc	p.R120H	DCAF8_ENST00000610139.1_Missense_Mutation_p.R120H|DCAF8_ENST00000475733.1_Missense_Mutation_p.R120H|DCAF8_ENST00000326837.2_Missense_Mutation_p.R120H|DCAF8_ENST00000556710.1_Missense_Mutation_p.R274H|DCAF8_ENST00000608310.1_Missense_Mutation_p.R274H|DCAF8_ENST00000368074.1_Missense_Mutation_p.R120H			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	120					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						AGCCCGCTTGCGCTGTACACG	0.557																																						dbGAP											0													53.0	52.0	52.0					1																	160209851		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.359G>A	1.37:g.160209851C>T	ENSP00000357052:p.Arg120His		D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R274H	ENST00000368073.3	37	c.821	CCDS1200.1	1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128786	0.56721	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000556710	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.12;-0.12	4.89	3.91	0.45181	.	0.222984	0.29980	U	0.010716	T	0.60038	0.2238	N	0.22421	0.69	0.43338	D	0.995382	D;D;D	0.76494	0.999;0.997;0.961	D;P;B	0.64595	0.927;0.77;0.339	T	0.63537	-0.6615	10	0.45353	T	0.12	-2.0718	13.5631	0.61802	0.0:0.8428:0.1572:0.0	.	274;120;120	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	H	120;120;120;274;101;120;274	ENSP00000357052:R120H;ENSP00000318227:R120H;ENSP00000357053:R120H;ENSP00000451989:R274H;ENSP00000451235:R274H	ENSP00000318227:R120H	R	-	2	0	RP11-574F21.3;DCAF8	158476475	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	3.499000	0.53310	2.258000	0.74832	0.555000	0.69702	CGC	DCAF8	-	NULL	ENSG00000132716		0.557	DCAF8-001	KNOWN	basic|CCDS	protein_coding	DCAF8	HGNC	protein_coding	OTTHUMT00000077402.2	76	0.00	0	C	NM_015726		160209851	160209851	-1	no_errors	ENST00000555195	ensembl	human	known	69_37n	missense	109	22.70	32	SNP	1.000	T
DCTN1	1639	genome.wustl.edu	37	2	74593696	74593696	+	Missense_Mutation	SNP	C	C	T	rs145293019		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:74593696C>T	ENST00000361874.3	-	22	2835	c.2518G>A	c.(2518-2520)Gtg>Atg	p.V840M	DCTN1_ENST00000409438.1_Missense_Mutation_p.V706M|DCTN1_ENST00000495643.1_Intron|DCTN1_ENST00000409868.1_Missense_Mutation_p.V823M|DCTN1_ENST00000409567.3_Missense_Mutation_p.V820M|DCTN1_ENST00000394003.3_Missense_Mutation_p.V833M|DCTN1_ENST00000409240.1_Missense_Mutation_p.V803M|DCTN1_ENST00000407639.2_Missense_Mutation_p.V706M	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	840					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCCTGCAGCACAGCCACGACC	0.592																																						dbGAP											0													139.0	136.0	137.0					2																	74593696		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2518G>A	2.37:g.74593696C>T	ENSP00000354791:p.Val840Met		A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,pfscan_CAP-Gly_domain	p.V840M	ENST00000361874.3	37	c.2518	CCDS1939.1	2	.	.	.	.	.	.	.	.	.	.	C	21.1	4.092138	0.76756	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.32	5.32	0.75619	.	0.000000	0.36134	N	0.002780	D	0.88862	0.6552	L	0.56769	1.78	0.58432	D	0.999998	D;D;D;D;D;D	0.71674	0.997;0.998;0.971;0.995;0.998;0.983	P;D;P;P;D;P	0.65443	0.794;0.929;0.598;0.898;0.935;0.773	D	0.87604	0.2499	10	0.41790	T	0.15	-9.1449	17.9185	0.88959	0.0:1.0:0.0:0.0	.	820;803;840;833;706;706	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	M	840;833;823;706;706;803;823;820	ENSP00000354791:V840M;ENSP00000377571:V833M;ENSP00000384844:V706M;ENSP00000387270:V706M;ENSP00000386406:V803M;ENSP00000387327:V823M;ENSP00000386843:V820M	ENSP00000354791:V840M	V	-	1	0	DCTN1	74447204	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.556000	0.67307	2.769000	0.95229	0.563000	0.77884	GTG	DCTN1	-	NULL	ENSG00000204843		0.592	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCTN1	HGNC	protein_coding	OTTHUMT00000252227.3	298	0.00	0	C	NM_004082		74593696	74593696	-1	no_errors	ENST00000361874	ensembl	human	known	69_37n	missense	159	16.75	32	SNP	1.000	T
DDAH1	23576	genome.wustl.edu	37	1	85816197	85816197	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:85816197C>T	ENST00000284031.8	-	4	592	c.498G>A	c.(496-498)gtG>gtA	p.V166V	DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000535924.2_Silent_p.V63V|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Silent_p.V166V|DDAH1_ENST00000542148.1_Silent_p.V66V|DDAH1_ENST00000426972.3_Silent_p.V73V|RP11-131L23.1_ENST00000427819.1_RNA	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	166					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	CTGCCACTGGCACTGTGGAGA	0.443																																						dbGAP											0													139.0	131.0	134.0					1																	85816197		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.498G>A	1.37:g.85816197C>T			Q5HYC8|Q86XK5	Silent	SNP	pfam_Amidino_trans	p.V166	ENST00000284031.8	37	c.498	CCDS705.1	1																																																																																			DDAH1	-	pfam_Amidino_trans	ENSG00000153904		0.443	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDAH1	HGNC	protein_coding	OTTHUMT00000029189.1	228	0.00	0	C			85816197	85816197	-1	no_errors	ENST00000284031	ensembl	human	known	69_37n	silent	187	10.10	21	SNP	1.000	T
DDX11	1663	genome.wustl.edu	37	12	31247696	31247696	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:31247696G>A	ENST00000407793.2	+	14	1673	c.1422G>A	c.(1420-1422)gaG>gaA	p.E474E	DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000350437.4_Silent_p.E474E|DDX11_ENST00000542838.1_Silent_p.E474E|DDX11_ENST00000228264.6_Silent_p.E448E|DDX11_ENST00000545668.1_Silent_p.E474E|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	474					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CAGGGACGGAGCTGAAGACCA	0.507										Multiple Myeloma(12;0.14)																												dbGAP											0													43.0	43.0	43.0					12																	31247696		2202	4280	6482	-	-	-	SO:0001819	synonymous_variant	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1422G>A	12.37:g.31247696G>A			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.E474	ENST00000407793.2	37	c.1422	CCDS44856.1	12																																																																																			DDX11	-	tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000013573		0.507	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	61	0.00	0	G	NM_030653		31247696	31247696	+1	no_errors	ENST00000407793	ensembl	human	known	69_37n	silent	33	23.26	10	SNP	0.998	A
DDX11	1663	genome.wustl.edu	37	12	31247702	31247702	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:31247702G>A	ENST00000407793.2	+	14	1679	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000350437.4_Silent_p.K476K|DDX11_ENST00000542838.1_Silent_p.K476K|DDX11_ENST00000228264.6_Silent_p.K450K|DDX11_ENST00000545668.1_Silent_p.K476K|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	476					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGGAGCTGAAGACCATCAACG	0.502										Multiple Myeloma(12;0.14)																												dbGAP											0													50.0	50.0	50.0					12																	31247702		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1428G>A	12.37:g.31247702G>A			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.K476	ENST00000407793.2	37	c.1428	CCDS44856.1	12																																																																																			DDX11	-	tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000013573		0.502	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	66	0.00	0	G	NM_030653		31247702	31247702	+1	no_errors	ENST00000407793	ensembl	human	known	69_37n	silent	38	20.83	10	SNP	1.000	A
DDX3X	1654	genome.wustl.edu	37	X	41200788	41200788	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:41200788C>T	ENST00000399959.2	+	4	1058	c.203C>T	c.(202-204)gCg>gTg	p.A68V	DDX3X_ENST00000542215.1_Missense_Mutation_p.A112V|DDX3X_ENST00000457138.2_Missense_Mutation_p.A52V|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Missense_Mutation_p.A68V	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	68	Interaction with EIF4E.|Required for TBK1 and IKBKE-dependent IFN-beta activation.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GATAAGGATGCGTATAGCAGT	0.363										HNSCC(61;0.18)																												dbGAP											0													122.0	118.0	120.0					X																	41200788		2170	4285	6455	-	-	-	SO:0001583	missense	0			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.203C>T	X.37:g.41200788C>T	ENSP00000382840:p.Ala68Val		A8K538|B4E3E8|O15536	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.A68V	ENST00000399959.2	37	c.203	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	C	21.4	4.139006	0.77775	.	.	ENSG00000215301	ENST00000399959;ENST00000457138;ENST00000441189;ENST00000542215	T;T;T	0.49139	2.04;2.05;0.79	5.5	5.5	0.81552	.	0.100618	0.64402	D	0.000002	T	0.65883	0.2734	M	0.65498	2.005	0.80722	D	1	D;B;P;D;B;B	0.76494	0.999;0.204;0.94;0.991;0.006;0.005	D;B;B;P;B;B	0.64144	0.922;0.028;0.142;0.627;0.001;0.001	T	0.64145	-0.6476	10	0.36615	T	0.2	-11.7561	18.4909	0.90846	0.0:1.0:0.0:0.0	.	68;68;52;68;80;68	B4DLA0;B4DLU5;B4E3E8;B5BTY4;Q59GX6;O00571	.;.;.;.;.;DDX3X_HUMAN	V	68;52;68;112	ENSP00000382840:A68V;ENSP00000392494:A52V;ENSP00000439799:A112V	ENSP00000382840:A68V	A	+	2	0	DDX3X	41085732	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.607000	0.67648	2.307000	0.77673	0.600000	0.82982	GCG	DDX3X	-	NULL	ENSG00000215301		0.363	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	122	0.00	0	C	NM_024005		41200788	41200788	+1	no_errors	ENST00000399959	ensembl	human	known	69_37n	missense	116	10.00	13	SNP	1.000	T
DEDD	9191	genome.wustl.edu	37	1	161092974	161092974	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:161092974C>T	ENST00000368006.3	-	5	685	c.471G>A	c.(469-471)tcG>tcA	p.S157S	DEDD_ENST00000545495.1_Silent_p.S157S|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000392188.1_Silent_p.S157S|DEDD_ENST00000368005.1_Silent_p.S157S|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000490843.2_Silent_p.S157S|DEDD_ENST00000458050.2_Silent_p.S157S	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	157					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCTGAGGACCCGAAGTGGGGC	0.542																																						dbGAP											0													66.0	64.0	65.0					1																	161092974		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.471G>A	1.37:g.161092974C>T			D3DVF5|O60737	Silent	SNP	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	p.S157	ENST00000368006.3	37	c.471	CCDS1219.1	1																																																																																			DEDD	-	NULL	ENSG00000158796		0.542	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	HGNC	protein_coding	OTTHUMT00000080582.1	121	0.00	0	C	NM_004216		161092974	161092974	-1	no_errors	ENST00000368005	ensembl	human	known	69_37n	silent	106	31.61	49	SNP	0.828	T
DEF6	50619	genome.wustl.edu	37	6	35287670	35287670	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:35287670G>A	ENST00000316637.5	+	9	1462	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	DEF6_ENST00000542066.1_Missense_Mutation_p.R231Q	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	486	Glu-rich.					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						TACATCGAACGGGCGCAGCAG	0.617																																						dbGAP											0													30.0	28.0	29.0					6																	35287670		2193	4292	6485	-	-	-	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.1457G>A	6.37:g.35287670G>A	ENSP00000319831:p.Arg486Gln		Q86VF4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R486Q	ENST00000316637.5	37	c.1457	CCDS4802.1	6	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327710	0.24080	.	.	ENSG00000023892	ENST00000542066;ENST00000316637	T;T	0.32753	2.0;1.44	4.87	3.05	0.35203	.	0.195239	0.42548	D	0.000692	T	0.04588	0.0125	N	0.04994	-0.135	0.37539	D	0.918235	B;B;B	0.15719	0.014;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.21518	-1.0243	10	0.21014	T	0.42	-12.2217	6.2343	0.20754	0.3953:0.0:0.6046:0.0	.	231;486;486	F5H853;B2RBP7;Q9H4E7	.;.;DEFI6_HUMAN	Q	231;486	ENSP00000442166:R231Q;ENSP00000319831:R486Q	ENSP00000319831:R486Q	R	+	2	0	DEF6	35395648	0.923000	0.31300	0.996000	0.52242	0.896000	0.52359	0.807000	0.27140	1.172000	0.42781	0.561000	0.74099	CGG	DEF6	-	NULL	ENSG00000023892		0.617	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	HGNC	protein_coding	OTTHUMT00000040276.1	14	0.00	0	G	NM_022047		35287670	35287670	+1	no_errors	ENST00000316637	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	1.000	A
DENND3	22898	genome.wustl.edu	37	8	142161047	142161047	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:142161047C>T	ENST00000262585.2	+	6	888	c.610C>T	c.(610-612)Cta>Tta	p.L204L	DENND3_ENST00000424248.1_Silent_p.L204L|DENND3_ENST00000519811.1_Silent_p.L284L	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	204	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGAGAAGGTGCTACAGGTACG	0.602																																						dbGAP											0													87.0	78.0	81.0					8																	142161047		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.610C>T	8.37:g.142161047C>T			B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_WD40_repeat,pfam_uDENN_dom,superfamily_WD40_repeat_dom,smart_DENN_dom,smart_dDENN_dom,smart_WD40_repeat,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_WD40_repeat_dom	p.A260V	ENST00000262585.2	37	c.779	CCDS34947.1	8	.	.	.	.	.	.	.	.	.	.	C	7.096	0.573098	0.13623	.	.	ENSG00000105339	ENST00000518668	.	.	.	5.4	1.22	0.21188	.	.	.	.	.	T	0.58337	0.2115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52403	-0.8580	4	.	.	.	-11.3595	10.1191	0.42609	0.0:0.5602:0.0:0.4398	.	.	.	.	V	260	.	.	A	+	2	0	DENND3	142230229	0.997000	0.39634	0.997000	0.53966	0.478000	0.33099	0.436000	0.21526	0.274000	0.22072	0.561000	0.74099	GCT	DENND3	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000105339		0.602	DENND3-201	KNOWN	basic|CCDS	protein_coding	DENND3	HGNC	protein_coding		52	0.00	0	C	NM_014957		142161047	142161047	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000518668	ensembl	human	novel	69_37n	missense	75	31.82	35	SNP	0.978	T
DFFA	1676	genome.wustl.edu	37	1	10532481	10532481	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:10532481G>A	ENST00000377038.3	-	1	102	c.35C>T	c.(34-36)tCt>tTt	p.S12F	DFFA_ENST00000377036.2_Missense_Mutation_p.S12F|PEX14_ENST00000356607.4_5'Flank|PEX14_ENST00000538836.1_5'Flank	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	12					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	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;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GATCTCGCCAGATTCTGGTAC	0.662																																						dbGAP											0													41.0	45.0	44.0					1																	10532481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.35C>T	1.37:g.10532481G>A	ENSP00000366237:p.Ser12Phe		Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	pfam_DNA_fragmentation_C,pfam_CAD,smart_CAD,pirsf_DNA_fragmentation_factor_asu,pfscan_CAD	p.S12F	ENST00000377038.3	37	c.35	CCDS118.1	1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807830	0.50421	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	4.76	2.81	0.32909	.	1.399460	0.04610	N	0.400027	T	0.21550	0.0519	N	0.08118	0	0.18873	N	0.999983	B;B	0.25169	0.06;0.119	B;B	0.26517	0.07;0.032	T	0.27123	-1.0083	9	0.72032	D	0.01	-7.7234	4.048	0.09781	0.2329:0.0:0.569:0.1982	.	12;12	O00273-2;O00273	.;DFFA_HUMAN	F	12	.	ENSP00000366235:S12F	S	-	2	0	DFFA	10455068	0.001000	0.12720	0.017000	0.16124	0.331000	0.28603	0.994000	0.29693	0.628000	0.30357	0.655000	0.94253	TCT	DFFA	-	pirsf_DNA_fragmentation_factor_asu	ENSG00000160049		0.662	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFFA	HGNC	protein_coding	OTTHUMT00000005418.1	15	0.00	0	G	NM_004401		10532481	10532481	-1	no_errors	ENST00000377038	ensembl	human	known	69_37n	missense	23	45.24	19	SNP	0.015	A
DENND4B	9909	genome.wustl.edu	37	1	153905397	153905397	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:153905397G>A	ENST00000361217.4	-	22	3981	c.3563C>T	c.(3562-3564)cCc>cTc	p.P1188L	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	1188					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCGCAGAAGGGGCAGGTTGT	0.602																																						dbGAP											0													48.0	53.0	52.0					1																	153905397		2108	4201	6309	-	-	-	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.3563C>T	1.37:g.153905397G>A	ENSP00000354597:p.Pro1188Leu		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.P1188L	ENST00000361217.4	37	c.3563	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133396	0.77662	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.11385	2.79;2.78	5.31	4.4	0.53042	.	0.053095	0.85682	D	0.000000	T	0.04724	0.0128	L	0.42245	1.32	0.80722	D	1	B	0.31611	0.331	B	0.25884	0.064	T	0.14531	-1.0469	10	0.66056	D	0.02	-21.7171	13.1559	0.59516	0.0784:0.0:0.9216:0.0	.	1188	O75064	DEN4B_HUMAN	L	1188;1199	ENSP00000354597:P1188L;ENSP00000357635:P1199L	ENSP00000354597:P1188L	P	-	2	0	DENND4B	152172021	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.345000	0.97053	1.474000	0.48178	0.557000	0.71058	CCC	DENND4B	-	NULL	ENSG00000198837		0.602	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	62	0.00	0	G	XM_375806		153905397	153905397	-1	no_errors	ENST00000361217	ensembl	human	known	69_37n	missense	37	35.09	20	SNP	1.000	A
DHRS4L2	317749	genome.wustl.edu	37	14	24464323	24464323	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:24464323C>T	ENST00000335125.6	+	3	515	c.389C>T	c.(388-390)aCc>aTc	p.T130I	DHRS4L2_ENST00000558753.1_Intron|DHRS4L2_ENST00000545240.1_Missense_Mutation_p.T130I|DHRS4L2_ENST00000534993.1_Missense_Mutation_p.T29I|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.T128I|DHRS4L2_ENST00000537912.1_Intron|DHRS4L2_ENST00000397071.1_Missense_Mutation_p.T130I	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	128						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		ATGGATGTCACCGAGGAGGTG	0.507																																						dbGAP											0													365.0	331.0	343.0					14																	24464323		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.389C>T	14.37:g.24464323C>T	ENSP00000334801:p.Thr130Ile		Q3YLD4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.T128I	ENST00000335125.6	37	c.383	CCDS9606.2	14	.	.	.	.	.	.	.	.	.	.	-	13.25	2.180521	0.38511	.	.	ENSG00000187630	ENST00000534993;ENST00000397071;ENST00000335125;ENST00000545240;ENST00000382755	D;T;T;T	0.89552	-2.53;0.46;1.74;1.74	4.64	3.71	0.42584	NAD(P)-binding domain (1);	0.327075	0.31461	N	0.007602	D	0.91828	0.7414	H	0.95151	3.63	0.20638	N	0.999877	B;B	0.33512	0.391;0.415	B;B	0.37480	0.199;0.251	D	0.86633	0.1887	10	0.49607	T	0.09	.	10.2277	0.43236	0.3416:0.6584:0.0:0.0	.	128;128	D3YTE6;Q6PKH6	.;DR4L2_HUMAN	I	29;130;130;130;128	ENSP00000380261:T130I;ENSP00000334801:T130I;ENSP00000437883:T130I;ENSP00000372203:T128I	ENSP00000334801:T130I	T	+	2	0	DHRS4L2	23534163	0.884000	0.30299	0.701000	0.30321	0.836000	0.47400	2.440000	0.44855	2.125000	0.65367	0.398000	0.26397	ACC	DHRS4L2	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR	ENSG00000187630		0.507	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	DHRS4L2	HGNC	protein_coding	OTTHUMT00000071858.4	552	0.00	0	C			24464323	24464323	+1	no_errors	ENST00000382755	ensembl	human	known	69_37n	missense	580	14.68	100	SNP	0.994	T
DHX15	1665	genome.wustl.edu	37	4	24534566	24534566	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:24534566G>A	ENST00000336812.4	-	12	2177	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	DHX15_ENST00000508032.1_5'UTR	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	674					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ACTTCGACGAGGCAAATTAAA	0.383																																						dbGAP											0													160.0	174.0	169.0					4																	24534566		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.2021C>T	4.37:g.24534566G>A	ENSP00000336741:p.Pro674Leu		Q9NQT7	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,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.P674L	ENST00000336812.4	37	c.2021	CCDS33966.1	4	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474479	0.63737	.	.	ENSG00000109606	ENST00000336812;ENST00000535946	T	0.03272	3.99	5.65	5.65	0.86999	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.09555	0.0235	M	0.77103	2.36	0.80722	D	1	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.15052	0.012;0.012;0.007	T	0.04796	-1.0926	10	0.51188	T	0.08	-13.6512	19.7105	0.96095	0.0:0.0:1.0:0.0	.	674;663;663	O43143;B4E0S6;F5H6K0	DHX15_HUMAN;.;.	L	674;663	ENSP00000336741:P674L	ENSP00000336741:P674L	P	-	2	0	DHX15	24143664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.676000	0.91093	0.591000	0.81541	CCT	DHX15	-	pfam_DUF1605	ENSG00000109606		0.383	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	422	0.00	0	G	NM_001358		24534566	24534566	-1	no_errors	ENST00000336812	ensembl	human	known	69_37n	missense	317	11.42	41	SNP	1.000	A
DHX29	54505	genome.wustl.edu	37	5	54570701	54570701	+	Silent	SNP	T	T	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:54570701T>C	ENST00000251636.5	-	15	2713	c.2565A>G	c.(2563-2565)gcA>gcG	p.A855A	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	855	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TACCTAAGTATGCAAGAAGTT	0.323																																						dbGAP											0													106.0	111.0	110.0					5																	54570701		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.2565A>G	5.37:g.54570701T>C			O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Silent	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A855	ENST00000251636.5	37	c.2565	CCDS34158.1	5																																																																																			DHX29	-	pfscan_Helicase_C	ENSG00000067248		0.323	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX29	HGNC	protein_coding	OTTHUMT00000368532.1	321	0.00	0	T	NM_019030		54570701	54570701	-1	no_errors	ENST00000251636	ensembl	human	known	69_37n	silent	191	22.04	54	SNP	0.942	C
DIAPH1	1729	genome.wustl.edu	37	5	140963073	140963073	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:140963073G>A	ENST00000398557.4	-	5	652	c.512C>T	c.(511-513)tCt>tTt	p.S171F	DIAPH1_ENST00000520569.1_Missense_Mutation_p.S117F|DIAPH1_ENST00000389054.3_Missense_Mutation_p.S171F|DIAPH1_ENST00000398562.2_Missense_Mutation_p.S162F|DIAPH1_ENST00000398566.3_Missense_Mutation_p.S162F|DIAPH1_ENST00000253811.6_Missense_Mutation_p.S171F|DIAPH1_ENST00000389057.5_Missense_Mutation_p.S162F|DIAPH1_ENST00000518047.1_Missense_Mutation_p.S162F	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	171	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)			GTTGTTGAGAGACACACGAAG	0.507																																						dbGAP											0													105.0	106.0	105.0					5																	140963073		2016	4191	6207	-	-	-	SO:0001583	missense	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.512C>T	5.37:g.140963073G>A	ENSP00000381565:p.Ser171Phe		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	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.S171F	ENST00000398557.4	37	c.512	CCDS43374.1	5	.	.	.	.	.	.	.	.	.	.	G	26.8	4.769868	0.90020	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66;-2.66	5.56	5.56	0.83823	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000003	D	0.95401	0.8507	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95633	0.8691	10	0.87932	D	0	.	18.293	0.90136	0.0:0.0:1.0:0.0	.	162;171	E9PEZ2;O60610	.;DIAP1_HUMAN	F	171;117;162;162;162;171;171;162	ENSP00000373706:S171F;ENSP00000429282:S117F;ENSP00000381570:S162F;ENSP00000373709:S162F;ENSP00000381572:S162F;ENSP00000381565:S171F;ENSP00000253811:S171F;ENSP00000428268:S162F	ENSP00000253811:S171F	S	-	2	0	DIAPH1	140943257	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	8.863000	0.92288	2.620000	0.88729	0.460000	0.39030	TCT	DIAPH1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold	ENSG00000131504		0.507	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	HGNC	protein_coding		303	0.00	0	G	NM_005219		140963073	140963073	-1	no_errors	ENST00000253811	ensembl	human	known	69_37n	missense	261	14.98	46	SNP	1.000	A
DIAPH2	1730	genome.wustl.edu	37	X	96854258	96854258	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:96854258G>A	ENST00000324765.8	+	27	3595	c.3248G>A	c.(3247-3249)aGa>aAa	p.R1083K	DIAPH2-AS1_ENST00000445414.1_RNA|DIAPH2_ENST00000373054.4_Missense_Mutation_p.R1079K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.R1083K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1083					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ACAGATAACAGACGAGTACCT	0.358																																						dbGAP											0													74.0	59.0	64.0					X																	96854258		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.3248G>A	X.37:g.96854258G>A	ENSP00000321348:p.Arg1083Lys		A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.R1083K	ENST00000324765.8	37	c.3248	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	G	7.887	0.731523	0.15507	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000324765	D;D;D	0.81659	-1.51;-1.52;-1.52	4.91	4.91	0.64330	.	.	.	.	.	T	0.73636	0.3612	L	0.52573	1.65	0.80722	D	1	B	0.25521	0.128	B	0.22386	0.039	T	0.68424	-0.5412	9	0.17369	T	0.5	.	13.1067	0.59252	0.0832:0.0:0.9168:0.0	.	1083	O60879	DIAP2_HUMAN	K	1083;1079;1083	ENSP00000362152:R1083K;ENSP00000362145:R1079K;ENSP00000321348:R1083K	ENSP00000321348:R1083K	R	+	2	0	DIAPH2	96740914	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.942000	0.63547	2.152000	0.67230	0.436000	0.28706	AGA	DIAPH2	-	NULL	ENSG00000147202		0.358	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	73	0.00	0	G	NM_006729, NM_007309		96854258	96854258	+1	no_errors	ENST00000324765	ensembl	human	known	69_37n	missense	45	15.09	8	SNP	1.000	A
DIP2A	23181	genome.wustl.edu	37	21	47986581	47986581	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr21:47986581G>A	ENST00000417564.2	+	37	4469	c.4448G>A	c.(4447-4449)aGg>aAg	p.R1483K	DIP2A_ENST00000400274.1_Missense_Mutation_p.R1479K|DIP2A_ENST00000318711.7_Missense_Mutation_p.R1484K|DIP2A_ENST00000479654.1_3'UTR			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1483					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CGAGCACACAGGAGCATCGCT	0.587																																						dbGAP											0													108.0	111.0	110.0					21																	47986581		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.4448G>A	21.37:g.47986581G>A	ENSP00000392066:p.Arg1483Lys		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.R1484K	ENST00000417564.2	37	c.4451	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	9.652	1.141801	0.21205	.	.	ENSG00000160305	ENST00000400274;ENST00000318711;ENST00000417564	T;T;T	0.10288	2.89;2.89;2.89	5.52	4.53	0.55603	AMP-dependent synthetase/ligase (1);	0.049605	0.85682	D	0.000000	T	0.04407	0.0121	N	0.12182	0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.11329	0.004;0.006	T	0.38845	-0.9642	10	0.07990	T	0.79	-29.1928	4.0526	0.09801	0.3031:0.0:0.6969:0.0	.	1484;1483	E9PER1;Q14689	.;DIP2A_HUMAN	K	1479;1484;1483	ENSP00000383133:R1479K;ENSP00000323633:R1484K;ENSP00000392066:R1483K	ENSP00000323633:R1484K	R	+	2	0	DIP2A	46811009	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.210000	0.42816	2.599000	0.87857	0.655000	0.94253	AGG	DIP2A	-	pfam_AMP-dep_Synth/Lig	ENSG00000160305		0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	55	0.00	0	G	NM_015151		47986581	47986581	+1	no_errors	ENST00000318711	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	1.000	A
DISC1	27185	genome.wustl.edu	37	1	231830350	231830350	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:231830350G>A	ENST00000602281.1	+	2	899	c.846G>A	c.(844-846)agG>agA	p.R282R	DISC1_ENST00000439617.2_Silent_p.R282R|DISC1_ENST00000317586.4_Silent_p.R282R|DISC1_ENST00000366636.4_Silent_p.R282R|DISC1_ENST00000537876.1_Silent_p.R282R|DISC1_ENST00000535983.1_Silent_p.R282R|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Silent_p.R282R|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000539444.1_Silent_p.R282R	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	282	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AGGCCGCAAGGAACAGCTCCA	0.612																																						dbGAP											0													52.0	56.0	55.0					1																	231830350		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.846G>A	1.37:g.231830350G>A			A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	superfamily_Prefoldin	p.R282	ENST00000602281.1	37	c.846	CCDS59205.1	1																																																																																			DISC1	-	NULL	ENSG00000162946		0.612	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000467451.1	61	0.00	0	G	NM_018662		231830350	231830350	+1	no_errors	ENST00000439617	ensembl	human	known	69_37n	silent	63	10.00	7	SNP	0.000	A
DLK1	8788	genome.wustl.edu	37	14	101198416	101198416	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:101198416C>T	ENST00000341267.4	+	4	542	c.300C>T	c.(298-300)aaC>aaT	p.N100N	DLK1_ENST00000331224.6_Silent_p.N100N	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	100	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GTGCCAACAACAGGACCTGCG	0.617																																						dbGAP											0													67.0	64.0	65.0					14																	101198416		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.300C>T	14.37:g.101198416C>T			P15803|Q96DW5	Silent	SNP	pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.N100	ENST00000341267.4	37	c.300	CCDS9963.1	14																																																																																			DLK1	-	pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000185559		0.617	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLK1	HGNC	protein_coding	OTTHUMT00000414389.1	52	0.00	0	C			101198416	101198416	+1	no_errors	ENST00000341267	ensembl	human	known	69_37n	silent	63	11.27	8	SNP	0.017	T
DNAH1	25981	genome.wustl.edu	37	3	52430735	52430735	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:52430735G>A	ENST00000420323.2	+	72	11793	c.11532G>A	c.(11530-11532)gaG>gaA	p.E3844E		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3909	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCCCTATGAGTTCACGGATG	0.557																																						dbGAP											0													139.0	140.0	139.0					3																	52430735		2006	4181	6187	-	-	-	SO:0001819	synonymous_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.11532G>A	3.37:g.52430735G>A			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.E3844	ENST00000420323.2	37	c.11532	CCDS46842.1	3																																																																																			DNAH1	-	pfam_Dynein_heavy	ENSG00000114841		0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	49	0.00	0	G	NM_015512		52430735	52430735	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	silent	36	23.40	11	SNP	1.000	A
DNAH10	196385	genome.wustl.edu	37	12	124335530	124335530	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:124335530G>A	ENST00000409039.3	+	34	5869	c.5844G>A	c.(5842-5844)gtG>gtA	p.V1948V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1948	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)		CCGAGTCGGTGAAGGCGCTGT	0.617																																						dbGAP											0													41.0	45.0	44.0					12																	124335530		2147	4281	6428	-	-	-	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.5844G>A	12.37:g.124335530G>A			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.V1948	ENST00000409039.3	37	c.5844	CCDS9255.2	12																																																																																			DNAH10	-	smart_AAA+_ATPase	ENSG00000197653		0.617	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH10	HGNC	protein_coding	OTTHUMT00000335420.3	57	0.00	0	G			124335530	124335530	+1	no_errors	ENST00000409039	ensembl	human	known	69_37n	silent	34	20.93	9	SNP	1.000	A
DNAJC1	64215	genome.wustl.edu	37	10	22171320	22171320	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:22171320G>A	ENST00000376980.3	-	8	1159	c.869C>T	c.(868-870)cCt>cTt	p.P290L		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	290					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGTTTCTAAAGGTGTGTATAC	0.294																																						dbGAP											0													127.0	126.0	127.0					10																	22171320		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.869C>T	10.37:g.22171320G>A	ENSP00000366179:p.Pro290Leu		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.P290L	ENST00000376980.3	37	c.869	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	G	14.96	2.692008	0.48097	.	.	ENSG00000136770	ENST00000376980	T	0.64991	-0.13	6.03	6.03	0.97812	.	0.467466	0.23793	N	0.044520	T	0.48857	0.1523	L	0.40543	1.245	0.80722	D	1	P;B	0.35844	0.524;0.024	B;B	0.24974	0.057;0.005	T	0.51379	-0.8713	10	0.48119	T	0.1	-5.383	11.5142	0.50511	0.1204:0.0:0.8796:0.0	.	11;290	Q96NY3;Q96KC8	.;DNJC1_HUMAN	L	290	ENSP00000366179:P290L	ENSP00000366179:P290L	P	-	2	0	DNAJC1	22211326	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.544000	0.53640	2.854000	0.98071	0.655000	0.94253	CCT	DNAJC1	-	NULL	ENSG00000136770		0.294	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	249	0.00	0	G	NM_022365		22171320	22171320	-1	no_errors	ENST00000376980	ensembl	human	known	69_37n	missense	149	10.78	18	SNP	1.000	A
DSCAML1	57453	genome.wustl.edu	37	11	117299065	117299065	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:117299065G>A	ENST00000321322.6	-	33	6322	c.6321C>T	c.(6319-6321)tcC>tcT	p.S2107S	DSCAML1_ENST00000527706.1_Silent_p.S1837S	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2047					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)		TGTAGGATTTGGAGTAGGCCC	0.657																																						dbGAP											0													23.0	28.0	26.0					11																	117299065		2135	4203	6338	-	-	-	SO:0001819	synonymous_variant	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.6321C>T	11.37:g.117299065G>A			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	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.S2107	ENST00000321322.6	37	c.6321	CCDS8384.1	11																																																																																			DSCAML1	-	NULL	ENSG00000177103		0.657	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	28	0.00	0	G	NM_020693		117299065	117299065	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	silent	14	26.32	5	SNP	1.000	A
DPAGT1	1798	genome.wustl.edu	37	11	118969168	118969168	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:118969168G>A	ENST00000409993.2	-	7	2224	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F	H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000445653.1_5'Flank|DPAGT1_ENST00000354202.4_Missense_Mutation_p.L225F|DPAGT1_ENST00000432443.2_Missense_Mutation_p.L118F			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	225					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)		ATGAAGTAGAGGGAAAAGACA	0.433																																						dbGAP											0													193.0	175.0	181.0					11																	118969168		2200	4295	6495	-	-	-	SO:0001583	missense	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	ENST00000409993.2:c.673C>T	11.37:g.118969168G>A	ENSP00000386597:p.Leu225Phe		O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	pfam_Glycosyl_transferase_4	p.L225F	ENST00000409993.2	37	c.673	CCDS8411.1	11	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972184	0.92919	.	.	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.93811	-3.29;-3.29;-3.29	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.96580	0.8884	M	0.77313	2.365	0.80722	D	1	D;P	0.67145	0.996;0.764	D;P	0.73380	0.98;0.604	D	0.96530	0.9392	10	0.62326	D	0.03	-11.859	18.2906	0.90129	0.0:0.0:1.0:0.0	.	118;225	E7EW40;Q9H3H5	.;GPT_HUMAN	F	225;225;118	ENSP00000386597:L225F;ENSP00000346142:L225F;ENSP00000404036:L118F	ENSP00000346142:L225F	L	-	1	0	DPAGT1	118474378	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.378000	0.79679	2.788000	0.95919	0.650000	0.86243	CTC	DPAGT1	-	pfam_Glycosyl_transferase_4	ENSG00000172269		0.433	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPAGT1	HGNC	protein_coding	OTTHUMT00000331527.2	119	0.00	0	G	NM_001382		118969168	118969168	-1	no_errors	ENST00000354202	ensembl	human	known	69_37n	missense	64	17.95	14	SNP	1.000	A
DSG4	147409	genome.wustl.edu	37	18	28986048	28986048	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr18:28986048G>A	ENST00000308128.4	+	12	1780	c.1645G>A	c.(1645-1647)Gca>Aca	p.A549T	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A549T|RP11-534N16.1_ENST00000581856.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	549					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)			AGCTACCTCGGCAATCCTTAC	0.423																																						dbGAP											0													61.0	61.0	61.0					18																	28986048		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.1645G>A	18.37:g.28986048G>A	ENSP00000311859:p.Ala549Thr		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.A549T	ENST00000308128.4	37	c.1645	CCDS11897.1	18	.	.	.	.	.	.	.	.	.	.	G	15.79	2.937241	0.52972	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.59638	0.25;0.25	5.99	5.99	0.97316	Cadherin-like (1);	0.000000	0.34603	N	0.003835	T	0.76884	0.4050	M	0.85197	2.74	0.33865	D	0.634284	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.971	D	0.84442	0.0583	10	0.62326	D	0.03	.	11.3335	0.49490	0.0822:0.0:0.9178:0.0	.	549;549	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	549	ENSP00000311859:A549T;ENSP00000352785:A549T	ENSP00000311859:A549T	A	+	1	0	DSG4	27240046	0.991000	0.36638	0.662000	0.29724	0.087000	0.18053	5.194000	0.65125	2.847000	0.97988	0.655000	0.94253	GCA	DSG4	-	superfamily_Cadherin-like	ENSG00000175065		0.423	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG4	HGNC	protein_coding	OTTHUMT00000254941.1	114	0.00	0	G	NM_177986		28986048	28986048	+1	no_errors	ENST00000359747	ensembl	human	known	69_37n	missense	89	14.42	15	SNP	0.892	A
DTX3L	151636	genome.wustl.edu	37	3	122284843	122284843	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:122284843G>A	ENST00000296161.4	+	2	514	c.325G>A	c.(325-327)Gca>Aca	p.A109T	PARP9_ENST00000477522.2_5'Flank|DTX3L_ENST00000383661.3_Missense_Mutation_p.A109T|PARP9_ENST00000462315.1_5'Flank|PARP9_ENST00000471785.1_5'Flank|PARP9_ENST00000492382.1_5'Flank|PARP9_ENST00000360356.2_5'Flank	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3 like, E3 ubiquitin ligase	109					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone monoubiquitination (GO:0010390)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		ACAATCACAAGCAGAAACACC	0.418																																						dbGAP											0													109.0	97.0	101.0					3																	122284843		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3015.1	3q21.1	2014-01-28	2014-01-28		ENSG00000163840	ENSG00000163840		"""RING-type (C3HC4) zinc fingers"""	30323	protein-coding gene	gene with protein product	"""rhysin 2"""	613143	"""deltex 3-like (Drosophila)"""			12670957, 22411408	Standard	NM_138287		Approved	BBAP	uc003efk.3	Q8TDB6	OTTHUMG00000159524	ENST00000296161.4:c.325G>A	3.37:g.122284843G>A	ENSP00000296161:p.Ala109Thr		B3KWH6|Q53ZZ3|Q5MJP7	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.A109T	ENST00000296161.4	37	c.325	CCDS3015.1	3	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336099	0.24253	.	.	ENSG00000163840	ENST00000296161;ENST00000383661	T;T	0.31769	1.48;2.08	4.53	0.104	0.14531	.	2.299650	0.01827	N	0.034453	T	0.21550	0.0519	L	0.36672	1.1	0.09310	N	1	P;B	0.36535	0.557;0.031	B;B	0.35971	0.215;0.016	T	0.08680	-1.0710	10	0.24483	T	0.36	-9.7731	0.7059	0.00916	0.2381:0.2026:0.3783:0.181	.	109;109	Q8TDB6-2;Q8TDB6	.;DTX3L_HUMAN	T	109	ENSP00000296161:A109T;ENSP00000373157:A109T	ENSP00000296161:A109T	A	+	1	0	DTX3L	123767533	0.000000	0.05858	0.002000	0.10522	0.565000	0.35776	-0.060000	0.11712	0.115000	0.18071	0.643000	0.83706	GCA	DTX3L	-	NULL	ENSG00000163840		0.418	DTX3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX3L	HGNC	protein_coding	OTTHUMT00000355966.1	73	0.00	0	G	NM_138287		122284843	122284843	+1	no_errors	ENST00000296161	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	0.000	A
DUOXA2	405753	genome.wustl.edu	37	15	45409943	45409943	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:45409943G>A	ENST00000323030.5	+	6	1084	c.799G>A	c.(799-801)Gtg>Atg	p.V267M	DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000559014.1_Missense_Mutation_p.R408W|DUOXA1_ENST00000430224.2_Missense_Mutation_p.R363W|DUOXA1_ENST00000267803.4_Missense_Mutation_p.R408W	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	267					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							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;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CGGAGGGGCCGTGGTGAGTCT	0.617																																						dbGAP											0													68.0	68.0	68.0					15																	45409943		2198	4298	6496	-	-	-	SO:0001583	missense	0			BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.799G>A	15.37:g.45409943G>A	ENSP00000319705:p.Val267Met		B2RPI9|H0YNQ6	Missense_Mutation	SNP	pfam_Dual_oxidase_maturation_fac	p.R408W	ENST00000323030.5	37	c.1222	CCDS10118.2	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.77|18.77	3.694732|3.694732	0.68386|0.68386	.|.	.|.	ENSG00000140254|ENSG00000140274	ENST00000267803;ENST00000430224|ENST00000323030	T;T|T	0.61859|0.55760	0.5;0.07|0.5	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	.|0.058229	.|0.64402	.|D	.|0.000002	T|T	0.63838|0.63838	0.2545|0.2545	L|L	0.52266|0.52266	1.64|1.64	0.80722|0.80722	D|D	1|1	P;P|D	0.51537|0.89917	0.946;0.946|1.0	B;B|D	0.37422|0.91635	0.249;0.249|0.999	T|T	0.56282|0.56282	-0.8005|-0.8005	9|10	0.87932|0.11182	D|T	0|0.66	.|.	14.8034|14.8034	0.69932|0.69932	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	363;408|267	B5M0C0;A8K9Q6|Q1HG44	.;.|DOXA2_HUMAN	W|M	408;363|267	ENSP00000267803:R408W;ENSP00000415512:R363W|ENSP00000319705:V267M	ENSP00000267803:R408W|ENSP00000319705:V267M	R|V	-|+	1|1	2|0	DUOXA1|DUOXA2	43197235|43197235	0.995000|0.995000	0.38212|0.38212	0.950000|0.950000	0.38849|0.38849	0.743000|0.743000	0.42351|0.42351	2.856000|2.856000	0.48341|0.48341	2.576000|2.576000	0.86940|0.86940	0.561000|0.561000	0.74099|0.74099	CGG|GTG	DUOXA1	-	NULL	ENSG00000140254		0.617	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUOXA1	HGNC	protein_coding	OTTHUMT00000254142.1	36	0.00	0	G	NM_207581		45409943	45409943	-1	no_errors	ENST00000267803	ensembl	human	known	69_37n	missense	24	35.14	13	SNP	0.981	A
DYSF	8291	genome.wustl.edu	37	2	71753454	71753454	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:71753454C>T	ENST00000258104.3	+	12	1435	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	DYSF_ENST00000409651.1_Silent_p.F418F|DYSF_ENST00000410020.3_Silent_p.F418F|DYSF_ENST00000413539.2_Silent_p.F417F|DYSF_ENST00000409762.1_Silent_p.F417F|DYSF_ENST00000409366.1_Silent_p.F387F|DYSF_ENST00000409744.1_Silent_p.F387F|DYSF_ENST00000410041.1_Silent_p.F418F|DYSF_ENST00000429174.2_Silent_p.F386F|DYSF_ENST00000394120.2_Silent_p.F387F|DYSF_ENST00000409582.3_Silent_p.F417F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	386	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.		FRAED -> Y (in MMD1). {ECO:0000269|PubMed:18853459}.		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						TGAAGGTCTTCCGGGCCGAGG	0.667																																						dbGAP											0													93.0	103.0	100.0					2																	71753454		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.1158C>T	2.37:g.71753454C>T			A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	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.F417	ENST00000258104.3	37	c.1251	CCDS1918.1	2																																																																																			DYSF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000135636		0.667	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	60	0.00	0	C	NM_003494		71753454	71753454	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	silent	115	38.17	71	SNP	1.000	T
ECE2	9718	genome.wustl.edu	37	3	184001629	184001629	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:184001629G>A	ENST00000402825.3	+	8	1227	c.1227G>A	c.(1225-1227)cgG>cgA	p.R409R	ECE2_ENST00000359140.4_Silent_p.R262R|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Silent_p.R337R|ECE2_ENST00000404464.3_Silent_p.R291R	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	409	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGGTGGGCGGCCCACCTCCA	0.617																																						dbGAP											0													58.0	53.0	54.0					3																	184001629		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1227G>A	3.37:g.184001629G>A			A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.R409	ENST00000402825.3	37	c.1227	CCDS3256.2	3																																																																																			ECE2	-	pfam_Peptidase_M13_N	ENSG00000145194		0.617	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	31	0.00	0	G	NM_014693		184001629	184001629	+1	no_errors	ENST00000402825	ensembl	human	known	69_37n	silent	34	12.82	5	SNP	0.000	A
ECHDC2	55268	genome.wustl.edu	37	1	53364850	53364851	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:53364850_53364851insA	ENST00000371522.4	-	8	841_842	c.748_749insT	c.(748-750)acgfs	p.T250fs	ECHDC2_ENST00000358358.5_Frame_Shift_Ins_p.T219fs|ECHDC2_ENST00000536120.1_Frame_Shift_Ins_p.T204fs	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	250					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TCTCACCTCCGTTCCTCGGTCA	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.748_749insT	1.37:g.53364850_53364851insA	ENSP00000360577:p.Thr250fs		D3DQ36|Q9NV38	Frame_Shift_Ins	INS	pfam_Crotonase_core	p.T250fs	ENST00000371522.4	37	c.749_748	CCDS55600.1	1																																																																																			ECHDC2	-	NULL	ENSG00000121310		0.550	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	HGNC	protein_coding	OTTHUMT00000024712.3	58	0.00	0	-	NM_018281		53364850	53364851	-1	no_errors	ENST00000371522	ensembl	human	known	69_37n	frame_shift_ins	38	24.00	12	INS	0.453:0.497	A
ECHDC2	55268	genome.wustl.edu	37	1	53364852	53364852	+	Silent	SNP	T	T	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:53364852T>C	ENST00000371522.4	-	8	840	c.747A>G	c.(745-747)ggA>ggG	p.G249G	ECHDC2_ENST00000358358.5_Silent_p.G218G|ECHDC2_ENST00000536120.1_Silent_p.G203G	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	249					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TCACCTCCGTTCCTCGGTCAA	0.552																																						dbGAP											0													94.0	78.0	83.0					1																	53364852		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.747A>G	1.37:g.53364852T>C			D3DQ36|Q9NV38	Silent	SNP	pfam_Crotonase_core	p.G249	ENST00000371522.4	37	c.747	CCDS55600.1	1																																																																																			ECHDC2	-	NULL	ENSG00000121310		0.552	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	HGNC	protein_coding	OTTHUMT00000024712.3	59	0.00	0	T	NM_018281		53364852	53364852	-1	no_errors	ENST00000371522	ensembl	human	known	69_37n	silent	39	26.42	14	SNP	0.505	C
ECHDC2	55268	genome.wustl.edu	37	1	53364856	53364858	+	In_Frame_Del	DEL	CGG	CGG	-	rs148235826|rs202045082		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	CGG	CGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:53364856_53364858delCGG	ENST00000371522.4	-	8	834_836	c.741_743delCCG	c.(739-744)gaccga>gaa	p.247_248DR>E	ECHDC2_ENST00000358358.5_In_Frame_Del_p.216_217DR>E|ECHDC2_ENST00000536120.1_In_Frame_Del_p.201_202DR>E	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	247				D -> N (in Ref. 1; BAA91922). {ECO:0000305}.	fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CTCCGTTCCTCGGTCAATGGCTA	0.562																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.741_743delCCG	1.37:g.53364856_53364858delCGG	ENSP00000360577:p.Asp247_Arg248delinsGlu		D3DQ36|Q9NV38	In_Frame_Del	DEL	pfam_Crotonase_core	p.DR247in_frame_delE	ENST00000371522.4	37	c.743_741	CCDS55600.1	1																																																																																			ECHDC2	-	NULL	ENSG00000121310		0.562	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ECHDC2	HGNC	protein_coding	OTTHUMT00000024712.3	58	0.00	0	CGG	NM_018281		53364856	53364858	-1	no_errors	ENST00000371522	ensembl	human	known	69_37n	in_frame_del	37	24.49	12	DEL	1.000:1.000:1.000	-
EDAR	10913	genome.wustl.edu	37	2	109513613	109513613	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:109513613G>A	ENST00000258443.2	-	12	1527	c.1097C>T	c.(1096-1098)tCt>tTt	p.S366F	EDAR_ENST00000376651.1_Missense_Mutation_p.S398F|EDAR_ENST00000409271.1_Missense_Mutation_p.S398F	NM_022336.3	NP_071731.1	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	366	Death.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|epidermis development (GO:0008544)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|salivary gland cavitation (GO:0060662)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGCCTTCTCAGAGTTGTACGT	0.547																																						dbGAP											0													86.0	75.0	79.0					2																	109513613		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF130988	CCDS2081.1	2q13	2013-05-22	2004-08-09		ENSG00000135960	ENSG00000135960		"""Tumor necrosis factor receptor superfamily"""	2895	protein-coding gene	gene with protein product		604095	"""ectodysplasin 1, anhidrotic receptor"""	ED3, DL		10431241, 9375732	Standard	NM_022336		Approved	ED5, EDA3, Edar, ED1R, EDA1R	uc002teq.4	Q9UNE0	OTTHUMG00000130982	ENST00000258443.2:c.1097C>T	2.37:g.109513613G>A	ENSP00000258443:p.Ser366Phe		B2R9H2|B4DLC5|D3DX74|E9PC98|Q52LL5|Q9UND9	Missense_Mutation	SNP	pfam_Death,superfamily_DEATH-like	p.S398F	ENST00000258443.2	37	c.1193	CCDS2081.1	2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745269	0.89663	.	.	ENSG00000135960	ENST00000409271;ENST00000258443;ENST00000376651	D;D;D	0.91843	-2.92;-2.9;-2.92	5.64	5.64	0.86602	DEATH-like (2);	0.092640	0.64402	D	0.000001	D	0.91509	0.7319	N	0.14661	0.345	0.53005	D	0.999961	D;P	0.55172	0.97;0.949	P;P	0.57846	0.828;0.745	D	0.93023	0.6442	10	0.72032	D	0.01	-23.7257	19.7209	0.96143	0.0:0.0:1.0:0.0	.	398;366	E9PC98;Q9UNE0	.;EDAR_HUMAN	F	398;366;398	ENSP00000386371:S398F;ENSP00000258443:S366F;ENSP00000365839:S398F	ENSP00000258443:S366F	S	-	2	0	EDAR	108880045	1.000000	0.71417	0.966000	0.40874	0.935000	0.57460	7.133000	0.77259	2.651000	0.90000	0.650000	0.86243	TCT	EDAR	-	superfamily_DEATH-like	ENSG00000135960		0.547	EDAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDAR	HGNC	protein_coding	OTTHUMT00000253595.1	91	0.00	0	G			109513613	109513613	-1	no_errors	ENST00000376651	ensembl	human	known	69_37n	missense	57	17.39	12	SNP	0.998	A
EFCAB12	90288	genome.wustl.edu	37	3	129130124	129130124	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:129130124C>T	ENST00000505956.1	-	5	1074	c.912G>A	c.(910-912)caG>caA	p.Q304Q	EFCAB12_ENST00000326085.3_Silent_p.Q304Q	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	304							calcium ion binding (GO:0005509)										CTTTGGGAAGCTGTGGGGCTG	0.572																																						dbGAP											0													54.0	57.0	56.0					3																	129130124		2085	4204	6289	-	-	-	SO:0001819	synonymous_variant	0			AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.912G>A	3.37:g.129130124C>T			Q69YX4	Silent	SNP	pfscan_EF_HAND_2	p.Q304	ENST00000505956.1	37	c.912	CCDS54638.1	3																																																																																			EFCAB12	-	NULL	ENSG00000172771		0.572	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB12	HGNC	protein_coding	OTTHUMT00000355530.1	80	0.00	0	C	NM_207307		129130124	129130124	-1	no_errors	ENST00000326085	ensembl	human	known	69_37n	silent	64	30.43	28	SNP	0.001	T
CRACR2A	84766	genome.wustl.edu	37	12	3765562	3765562	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:3765562C>T	ENST00000252322.1	-	9	1241	c.773G>A	c.(772-774)aGg>aAg	p.R258K	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.R258K|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.R258K	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		258					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGCTTGAAACCTCTCTGTGTC	0.498																																						dbGAP											0													88.0	77.0	80.0					12																	3765562		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000252322.1:c.773G>A	12.37:g.3765562C>T	ENSP00000252322:p.Arg258Lys		B4E1X0|B9EK63	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom	p.R258K	ENST00000252322.1	37	c.773	CCDS8522.1	12	.	.	.	.	.	.	.	.	.	.	c	21.8	4.198482	0.79015	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.20738	2.05;2.34;2.55	5.01	3.05	0.35203	.	0.050521	0.85682	D	0.000000	T	0.37376	0.1001	M	0.64567	1.98	0.33040	D	0.531305	D;D;D	0.69078	0.996;0.996;0.997	P;D;D	0.76071	0.872;0.987;0.978	T	0.48151	-0.9060	10	0.48119	T	0.1	-27.3634	7.5841	0.27982	0.1636:0.7469:0.0:0.0895	.	258;258;258	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	K	258	ENSP00000409382:R258K;ENSP00000412496:R258K;ENSP00000252322:R258K	ENSP00000252322:R258K	R	-	2	0	EFCAB4B	3635823	0.981000	0.34729	0.944000	0.38274	0.955000	0.61496	3.320000	0.51991	1.230000	0.43646	0.556000	0.70494	AGG	EFCAB4B	-	NULL	ENSG00000130038		0.498	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398673.1	105	0.00	0	C			3765562	3765562	-1	no_errors	ENST00000440314	ensembl	human	known	69_37n	missense	83	11.70	11	SNP	0.988	T
EFNA4	1945	genome.wustl.edu	37	1	155041462	155041462	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:155041462G>A	ENST00000368409.3	+	4	696	c.603G>A	c.(601-603)ctG>ctA	p.L201L	EFNA3_ENST00000505139.1_Intron|EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000427683.2_Intron|EFNA4_ENST00000359751.4_Intron	NM_005227.2	NP_005218.1	P52798	EFNA4_HUMAN	ephrin-A4	201					axon guidance (GO:0007411)|bone remodeling (GO:0046849)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|osteoclast differentiation (GO:0030316)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGCGAATTCTGTGAGCCAAGC	0.592																																						dbGAP											0													122.0	124.0	123.0					1																	155041462		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ006352	CCDS1089.1, CCDS41407.1, CCDS44237.1	1q21-q22	2011-03-09			ENSG00000243364	ENSG00000243364		"""Ephrins"""	3224	protein-coding gene	gene with protein product		601380		EPLG4		8660976	Standard	NM_182690		Approved	LERK4		P52798	OTTHUMG00000035309	ENST00000368409.3:c.603G>A	1.37:g.155041462G>A			C9JHJ8|G3XAK2|O95457|Q5SR71|Q6FI57	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.L201	ENST00000368409.3	37	c.603	CCDS1089.1	1																																																																																			EFNA4	-	NULL	ENSG00000243364		0.592	EFNA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EFNA4	HGNC	protein_coding	OTTHUMT00000085421.2	59	0.00	0	G	NM_005227		155041462	155041462	+1	no_errors	ENST00000368409	ensembl	human	known	69_37n	silent	63	24.10	20	SNP	1.000	A
EHBP1	23301	genome.wustl.edu	37	2	62934391	62934391	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:62934391C>T	ENST00000263991.5	+	2	547	c.65C>T	c.(64-66)gCc>gTc	p.A22V	EHBP1_ENST00000354487.3_Missense_Mutation_p.A22V|EHBP1_ENST00000405015.3_Missense_Mutation_p.A22V|EHBP1_ENST00000405289.1_Missense_Mutation_p.A22V|EHBP1_ENST00000431489.1_Missense_Mutation_p.A22V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	22						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)			CAGTTTGTGGCCTCCTACCAG	0.483																																						dbGAP											0													197.0	180.0	185.0					2																	62934391		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.65C>T	2.37:g.62934391C>T	ENSP00000263991:p.Ala22Val		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.A22V	ENST00000263991.5	37	c.65	CCDS1872.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083142	0.76642	.	.	ENSG00000115504	ENST00000405015;ENST00000405482;ENST00000427809;ENST00000431489;ENST00000263991;ENST00000354487;ENST00000405289	T;T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29;1.29	4.87	4.87	0.63330	.	0.077004	0.52532	D	0.000078	T	0.52158	0.1717	L	0.43152	1.355	0.80722	D	1	D;D;D;P	0.89917	0.998;0.997;1.0;0.902	D;D;D;P	0.85130	0.994;0.983;0.997;0.902	T	0.42413	-0.9453	10	0.25106	T	0.35	.	18.0344	0.89294	0.0:1.0:0.0:0.0	.	22;22;22;22	Q8NDI1-2;A8K930;Q8NDI1-3;Q8NDI1	.;.;.;EHBP1_HUMAN	V	22	ENSP00000384143:A22V;ENSP00000384829:A22V;ENSP00000404617:A22V;ENSP00000403783:A22V;ENSP00000263991:A22V;ENSP00000346482:A22V;ENSP00000385524:A22V	ENSP00000263991:A22V	A	+	2	0	EHBP1	62787895	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.764000	0.85297	2.227000	0.72691	0.563000	0.77884	GCC	EHBP1	-	NULL	ENSG00000115504		0.483	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1	HGNC	protein_coding	OTTHUMT00000251616.1	62	0.00	0	C	NM_015252		62934391	62934391	+1	no_errors	ENST00000263991	ensembl	human	known	69_37n	missense	66	20.48	17	SNP	1.000	T
EIF2S1	1965	genome.wustl.edu	37	14	67831527	67831527	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:67831527G>A	ENST00000256383.4	+	2	504	c.43G>A	c.(43-45)Gag>Aag	p.E15K	EIF2S1_ENST00000466499.2_Missense_Mutation_p.E15K	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	15					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)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.E15Q(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		caaatttcctgaggtggaaga	0.353																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											108.0	104.0	105.0					14																	67831527		2203	4300	6503	-	-	-	SO:0001583	missense	0			J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.43G>A	14.37:g.67831527G>A	ENSP00000256383:p.Glu15Lys			Missense_Mutation	SNP	pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E15K	ENST00000256383.4	37	c.43	CCDS9781.1	14	.	.	.	.	.	.	.	.	.	.	G	22.9	4.346479	0.82022	.	.	ENSG00000134001	ENST00000256383;ENST00000437108;ENST00000557310;ENST00000466499	T;T;T	0.45276	0.9;0.9;0.9	5.93	5.01	0.66863	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.094180	0.64402	D	0.000001	T	0.45696	0.1355	L	0.60845	1.875	0.80722	D	1	B	0.14805	0.011	B	0.28553	0.091	T	0.45512	-0.9256	10	0.87932	D	0	-15.6371	16.578	0.84706	0.0:0.0:0.8692:0.1308	.	15	P05198	IF2A_HUMAN	K	15	ENSP00000256383:E15K;ENSP00000451975:E15K;ENSP00000425299:E15K	ENSP00000256383:E15K	E	+	1	0	EIF2S1	66901280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.001000	0.88508	2.798000	0.96311	0.655000	0.94253	GAG	EIF2S1	-	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1	ENSG00000134001		0.353	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S1	HGNC	protein_coding	OTTHUMT00000074342.3	125	0.00	0	G	NM_004094		67831527	67831527	+1	no_errors	ENST00000256383	ensembl	human	known	69_37n	missense	142	29.70	60	SNP	1.000	A
EIF5B	9669	genome.wustl.edu	37	2	100006766	100006766	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:100006766G>A	ENST00000289371.6	+	16	2690	c.2488G>A	c.(2488-2490)Ggc>Agc	p.G830S		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	830	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TACTGGTGATGGCATGGGAAG	0.448																																					Colon(162;2388 2567 2705 3444)	dbGAP											0													205.0	187.0	193.0					2																	100006766		1940	4147	6087	-	-	-	SO:0001583	missense	0			AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.2488G>A	2.37:g.100006766G>A	ENSP00000289371:p.Gly830Ser		O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_TIF_IF2_dom3,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.G830S	ENST00000289371.6	37	c.2488	CCDS42721.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.844607	0.97016	.	.	ENSG00000158417	ENST00000289371	T	0.73363	-0.74	5.64	5.64	0.86602	Protein synthesis factor, GTP-binding (1);	.	.	.	.	D	0.92632	0.7659	H	0.98936	4.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95009	0.8150	8	.	.	.	-10.247	20.0625	0.97681	0.0:0.0:1.0:0.0	.	830	O60841	IF2P_HUMAN	S	830	ENSP00000289371:G830S	.	G	+	1	0	EIF5B	99373198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.705000	0.98719	2.816000	0.96949	0.561000	0.74099	GGC	EIF5B	-	pfam_ProtSyn_GTP-bd	ENSG00000158417		0.448	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5B	HGNC	protein_coding	OTTHUMT00000330364.2	386	0.00	0	G	NM_015904		100006766	100006766	+1	no_errors	ENST00000289371	ensembl	human	known	69_37n	missense	542	12.56	78	SNP	1.000	A
ELMO2	63916	genome.wustl.edu	37	20	45002083	45002083	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:45002083G>A	ENST00000290246.6	-	16	1565	c.1371C>T	c.(1369-1371)aaC>aaT	p.N457N	ELMO2_ENST00000396391.1_Silent_p.N457N|ELMO2_ENST00000372176.1_Silent_p.N369N|ELMO2_ENST00000454865.2_Silent_p.N189N|ELMO2_ENST00000352077.2_Silent_p.N455N|ELMO2_ENST00000445496.2_Silent_p.N274N|ELMO2_ENST00000488853.1_5'Flank|ELMO2_ENST00000439931.2_Silent_p.N469N	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	457	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TCCAGGTCTTGTTCAACAGCT	0.537																																						dbGAP											0													145.0	114.0	124.0					20																	45002083		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1371C>T	20.37:g.45002083G>A			E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO	p.T182I	ENST00000290246.6	37	c.545	CCDS13398.1	20																																																																																			ELMO2	-	pfam_Engulfment_cell_motility_ELMO	ENSG00000062598		0.537	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	132	0.00	0	G	NM_022086		45002083	45002083	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000467800	ensembl	human	known	69_37n	missense	98	32.19	47	SNP	1.000	A
ELMO2	63916	genome.wustl.edu	37	20	45003905	45003905	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:45003905G>A	ENST00000290246.6	-	13	1229	c.1035C>T	c.(1033-1035)taC>taT	p.Y345Y	ELMO2_ENST00000396391.1_Silent_p.Y345Y|ELMO2_ENST00000372176.1_Silent_p.Y257Y|ELMO2_ENST00000454865.2_Silent_p.Y77Y|ELMO2_ENST00000352077.2_Silent_p.Y343Y|ELMO2_ENST00000445496.2_Silent_p.Y162Y|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Silent_p.Y357Y	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	345	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGTCCTTTGTGTACATGGCTT	0.502																																						dbGAP											0													200.0	125.0	150.0					20																	45003905		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1035C>T	20.37:g.45003905G>A			E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO	p.T70I	ENST00000290246.6	37	c.209	CCDS13398.1	20																																																																																			ELMO2	-	pfam_Engulfment_cell_motility_ELMO	ENSG00000062598		0.502	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	192	0.00	0	G	NM_022086		45003905	45003905	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000467800	ensembl	human	known	69_37n	missense	152	14.04	25	SNP	0.999	A
EML1	2009	genome.wustl.edu	37	14	100376585	100376585	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:100376585G>A	ENST00000262233.6	+	12	1385	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	EML1_ENST00000334192.4_Missense_Mutation_p.E435K|EML1_ENST00000327921.9_Missense_Mutation_p.E404K	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	416	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ACAGAAACAAGAAAAGCCAAA	0.313																																						dbGAP											0													72.0	70.0	71.0					14																	100376585		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1246G>A	14.37:g.100376585G>A	ENSP00000262233:p.Glu416Lys		Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E435K	ENST00000262233.6	37	c.1303	CCDS32155.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.898591|4.898591	0.91962|0.91962	.|.	.|.	ENSG00000066629|ENSG00000066629	ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138|ENST00000554386	T;T;T|.	0.39787|.	1.06;1.06;1.06|.	5.24|5.24	5.24|5.24	0.73138|0.73138	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68751|0.68751	0.3035|0.3035	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D;B;D;D|.	0.76494|.	0.999;0.344;0.999;0.999|.	D;B;D;D|.	0.83275|.	0.996;0.119;0.962;0.991|.	T|T	0.65307|0.65307	-0.6200|-0.6200	10|5	0.33940|.	T|.	0.23|.	-30.4346|-30.4346	18.8336|18.8336	0.92151|0.92151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	404;416;435;435|.	F8W717;O00423;O00423-3;B3KXA3|.	.;EMAL1_HUMAN;.;.|.	K|K	404;416;435;435|108	ENSP00000327384:E404K;ENSP00000262233:E416K;ENSP00000334314:E435K|.	ENSP00000262233:E416K|.	E|R	+|+	1|2	0|0	EML1|EML1	99446338|99446338	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.932000|0.932000	0.56968|0.56968	9.652000|9.652000	0.98499|0.98499	2.443000|2.443000	0.82685|0.82685	0.655000|0.655000	0.94253|0.94253	GAA|AGA	EML1	-	superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000066629		0.313	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EML1	HGNC	protein_coding	OTTHUMT00000413943.1	110	0.00	0	G	NM_001008707		100376585	100376585	+1	no_errors	ENST00000334192	ensembl	human	known	69_37n	missense	114	21.92	32	SNP	1.000	A
EMR1	2015	genome.wustl.edu	37	19	6937656	6937656	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:6937656G>A	ENST00000312053.4	+	20	2689	c.2652G>A	c.(2650-2652)aaG>aaA	p.K884K	EMR1_ENST00000250572.8_Silent_p.K819K|EMR1_ENST00000381404.4_Silent_p.K865K|EMR1_ENST00000450315.3_Silent_p.K707K|EMR1_ENST00000381407.5_Silent_p.K743K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	884					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)					CCGCTTCCAAGACGGTGAGAG	0.582																																						dbGAP											0													128.0	105.0	113.0					19																	6937656		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2652G>A	19.37:g.6937656G>A			A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	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.K884	ENST00000312053.4	37	c.2652	CCDS12175.1	19																																																																																			EMR1	-	prints_GPCR_2_EMR1_rcpt	ENSG00000174837		0.582	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	74	0.00	0	G			6937656	6937656	+1	no_errors	ENST00000312053	ensembl	human	known	69_37n	silent	41	10.87	5	SNP	0.699	A
ENOX1	55068	genome.wustl.edu	37	13	43810836	43810836	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:43810836G>A	ENST00000261488.6	-	15	2227	c.1650C>T	c.(1648-1650)gaC>gaT	p.D550D	ENOX1_ENST00000412891.1_Silent_p.D550D	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	550					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGTTCTCTCGGTCTTGGTTGA	0.338																																						dbGAP											0													120.0	117.0	118.0					13																	43810836		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.1650C>T	13.37:g.43810836G>A			A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D550	ENST00000261488.6	37	c.1650	CCDS9389.1	13																																																																																			ENOX1	-	NULL	ENSG00000120658		0.338	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	99	0.00	0	G	NM_017993		43810836	43810836	-1	no_errors	ENST00000261488	ensembl	human	known	69_37n	silent	37	21.28	10	SNP	1.000	A
ENTPD7	57089	genome.wustl.edu	37	10	101464247	101464247	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:101464247G>A	ENST00000370489.4	+	13	1800	c.1622G>A	c.(1621-1623)aGc>aAc	p.S541N	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	541						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GCCCATGGTAGCTGGTTCCGT	0.468																																						dbGAP											0													196.0	158.0	171.0					10																	101464247		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF269255	CCDS7480.1	10q23-q24	2004-07-01			ENSG00000198018	ENSG00000198018			19745	protein-coding gene	gene with protein product						11278936	Standard	NM_020354		Approved	LALP1, FLJ30978	uc001kqa.4	Q9NQZ7	OTTHUMG00000018888	ENST00000370489.4:c.1622G>A	10.37:g.101464247G>A	ENSP00000359520:p.Ser541Asn		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.S541N	ENST00000370489.4	37	c.1622	CCDS7480.1	10	.	.	.	.	.	.	.	.	.	.	G	6.393	0.440711	0.12104	.	.	ENSG00000198018	ENST00000370489	T	0.14391	2.51	5.0	3.17	0.36434	.	0.205916	0.47852	D	0.000217	T	0.08935	0.0221	L	0.34521	1.04	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.20338	-1.0278	10	0.14656	T	0.56	-13.0393	7.6223	0.28191	0.161:0.174:0.665:0.0	.	541	Q9NQZ7	ENTP7_HUMAN	N	541	ENSP00000359520:S541N	ENSP00000359520:S541N	S	+	2	0	ENTPD7	101454237	0.865000	0.29922	0.998000	0.56505	0.851000	0.48451	1.223000	0.32527	0.735000	0.32537	-0.215000	0.12644	AGC	ENTPD7	-	NULL	ENSG00000198018		0.468	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD7	HGNC	protein_coding	OTTHUMT00000049809.2	160	0.00	0	G	NM_020354		101464247	101464247	+1	no_errors	ENST00000370489	ensembl	human	known	69_37n	missense	138	22.47	40	SNP	0.778	A
EP300	2033	genome.wustl.edu	37	22	41527458	41527458	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:41527458C>T	ENST00000263253.7	+	6	2568	c.1349C>T	c.(1348-1350)gCc>gTc	p.A450V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	450					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						CAACAGTCTGCCCCCAACCTA	0.448			"""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													112.0	118.0	116.0					22																	41527458		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1349C>T	22.37:g.41527458C>T	ENSP00000263253:p.Ala450Val		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.A450V	ENST00000263253.7	37	c.1349	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692475	0.88735	.	.	ENSG00000100393	ENST00000263253	D	0.83837	-1.77	5.6	5.6	0.85130	.	0.126304	0.34879	N	0.003611	D	0.86928	0.6051	L	0.49126	1.545	0.25247	N	0.989702	D	0.55605	0.972	P	0.55222	0.771	T	0.80398	-0.1399	10	0.48119	T	0.1	-1.6973	19.9823	0.97331	0.0:1.0:0.0:0.0	.	450	Q09472	EP300_HUMAN	V	450	ENSP00000263253:A450V	ENSP00000263253:A450V	A	+	2	0	EP300	39857404	0.361000	0.24972	0.839000	0.33178	0.967000	0.64934	4.879000	0.63100	2.788000	0.95919	0.650000	0.86243	GCC	EP300	-	NULL	ENSG00000100393		0.448	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	225	0.00	0	C	NM_001429		41527458	41527458	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	missense	207	14.81	36	SNP	0.961	T
EP400	57634	genome.wustl.edu	37	12	132508392	132508392	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:132508392G>A	ENST00000333577.4	+	25	4978	c.4869G>A	c.(4867-4869)gaG>gaA	p.E1623E	EP400_ENST00000389561.2_Silent_p.E1587E|EP400_ENST00000332482.4_Silent_p.E1550E|EP400_ENST00000330386.6_Silent_p.E1506E|EP400_ENST00000389562.2_Silent_p.E1586E			Q96L91	EP400_HUMAN	E1A binding protein p400	1623					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CTCAGCCAGAGACGCCGGTGA	0.587																																						dbGAP											0													48.0	49.0	49.0					12																	132508392		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4869G>A	12.37:g.132508392G>A			O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1623	ENST00000333577.4	37	c.4869		12																																																																																			EP400	-	NULL	ENSG00000183495		0.587	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		24	0.00	0	G	NM_015409		132508392	132508392	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	silent	44	13.73	7	SNP	1.000	A
EP400	57634	genome.wustl.edu	37	12	132514578	132514578	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:132514578G>A	ENST00000333577.4	+	30	5846	c.5737G>A	c.(5737-5739)Gaa>Aaa	p.E1913K	SNORA49_ENST00000386157.1_RNA|EP400_ENST00000332482.4_Missense_Mutation_p.E1840K|EP400_ENST00000389561.2_Missense_Mutation_p.E1877K|EP400_ENST00000389562.2_Missense_Mutation_p.E1876K|EP400_ENST00000330386.6_Missense_Mutation_p.E1796K			Q96L91	EP400_HUMAN	E1A binding protein p400	1913	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ATTGAAATCTGAAGGACGTCG	0.443																																						dbGAP											0													187.0	175.0	179.0					12																	132514578		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5737G>A	12.37:g.132514578G>A	ENSP00000333602:p.Glu1913Lys		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1913K	ENST00000333577.4	37	c.5737		12	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076680	0.76415	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92	5.85	5.85	0.93711	.	0.048559	0.85682	D	0.000000	T	0.79233	0.4411	L	0.31926	0.97	0.47862	D	0.999537	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.58520	0.84;0.84;0.84	T	0.79780	-0.1659	10	0.59425	D	0.04	.	20.1531	0.98091	0.0:0.0:1.0:0.0	.	1877;1796;1876	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	K	1913;1877;1876;1840;1796;1877	ENSP00000333602:E1913K;ENSP00000374212:E1877K;ENSP00000374213:E1876K;ENSP00000331737:E1840K;ENSP00000330620:E1796K	ENSP00000330620:E1796K	E	+	1	0	EP400	131080531	1.000000	0.71417	0.805000	0.32314	0.984000	0.73092	9.864000	0.99589	2.752000	0.94435	0.650000	0.86243	GAA	EP400	-	pfscan_Helicase_C	ENSG00000183495		0.443	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		91	0.00	0	G	NM_015409		132514578	132514578	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	missense	132	13.16	20	SNP	1.000	A
EPB41L1	2036	genome.wustl.edu	37	20	34782145	34782145	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:34782145C>T	ENST00000338074.2	+	12	1473	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	EPB41L1_ENST00000373941.1_Missense_Mutation_p.R438C|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R376C|EPB41L1_ENST00000373946.3_Missense_Mutation_p.R407C|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R376C|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R341C	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	438					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGAGTTCTCCCGCCCAGCCTC	0.632																																						dbGAP											0													54.0	48.0	50.0					20																	34782145		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.1312C>T	20.37:g.34782145C>T	ENSP00000337168:p.Arg438Cys		O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.R438C	ENST00000338074.2	37	c.1312	CCDS13271.1	20	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737266	0.89482	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000344237;ENST00000338074;ENST00000373941	D;D;D;D;D;D	0.84730	-1.89;-1.81;-1.89;-1.86;-1.85;-1.85	5.21	5.21	0.72293	.	0.578888	0.19103	N	0.122648	D	0.87446	0.6179	L	0.27053	0.805	0.58432	D	0.999999	D;D;B;D;D;D	0.89917	0.999;1.0;0.215;1.0;0.99;0.998	D;P;B;D;B;D	0.65010	0.917;0.899;0.042;0.931;0.336;0.921	D	0.88453	0.3050	10	0.56958	D	0.05	.	17.7547	0.88446	0.0:1.0:0.0:0.0	.	438;438;407;341;341;376	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	C	376;341;438;341;376;407;12;438;438	ENSP00000202028:R376C;ENSP00000363061:R341C;ENSP00000399214:R376C;ENSP00000363057:R407C;ENSP00000337168:R438C;ENSP00000363052:R438C	ENSP00000202028:R376C	R	+	1	0	EPB41L1	34245559	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	4.470000	0.60175	2.428000	0.82296	0.561000	0.74099	CGC	EPB41L1	-	pirsf_Band_41_protein	ENSG00000088367		0.632	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPB41L1	HGNC	protein_coding	OTTHUMT00000078978.3	54	0.00	0	C	NM_012156		34782145	34782145	+1	no_errors	ENST00000338074	ensembl	human	known	69_37n	missense	60	14.29	10	SNP	1.000	T
EPS8L3	79574	genome.wustl.edu	37	1	110302173	110302174	+	Intron	INS	-	-	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:110302173_110302174insA	ENST00000361965.4	-	4	362				RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Intron|EPS8L3_ENST00000361852.4_Intron|EPS8L3_ENST00000494151.1_5'UTR	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3							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)		CTCTTCCTAGGCTTGGGTGTGT	0.584																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.255+125->T	1.37:g.110302173_110302174insA			A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	RNA	INS	-	NULL	ENST00000361965.4	37	NULL	CCDS814.1	1																																																																																			EPS8L3	-	-	ENSG00000198758		0.584	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1	21	0.00	0	-	NM_024526		110302173	110302174	-1	no_errors	ENST00000494151	ensembl	human	known	69_37n	rna	14	30.00	6	INS	0.021:0.037	A
EPS8L3	79574	genome.wustl.edu	37	1	110302176	110302177	+	Intron	DEL	TG	TG	-			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:110302176_110302177delTG	ENST00000361965.4	-	4	362				RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000369805.3_Intron|EPS8L3_ENST00000361852.4_Intron|EPS8L3_ENST00000494151.1_5'UTR	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3							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)		TTCCTAGGCTTGGGTGTGTGTT	0.589																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.255+122CA>-	1.37:g.110302176_110302177delTG			A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	RNA	DEL	-	NULL	ENST00000361965.4	37	NULL	CCDS814.1	1																																																																																			EPS8L3	-	-	ENSG00000198758		0.589	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EPS8L3	HGNC	protein_coding	OTTHUMT00000032234.1	20	0.00	0	TG	NM_024526		110302176	110302177	-1	no_errors	ENST00000494151	ensembl	human	known	69_37n	rna	16	26.09	6	DEL	0.401:0.471	-
ERBB2	2064	genome.wustl.edu	37	17	37871757	37871757	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:37871757C>A	ENST00000269571.5	+	11	1440	c.1281C>A	c.(1279-1281)aaC>aaA	p.N427K	ERBB2_ENST00000578199.1_Missense_Mutation_p.N397K|ERBB2_ENST00000540147.1_Missense_Mutation_p.N397K|ERBB2_ENST00000541774.1_Missense_Mutation_p.N412K|ERBB2_ENST00000445658.2_Missense_Mutation_p.N151K|ERBB2_ENST00000584450.1_Missense_Mutation_p.N427K|ERBB2_ENST00000584601.1_Missense_Mutation_p.N397K|ERBB2_ENST00000406381.2_Missense_Mutation_p.N397K|ERBB2_ENST00000540042.1_Missense_Mutation_p.N397K			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	427					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)			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)	TCTTCCAGAACCTGCAAGTAA	0.567		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	0													90.0	83.0	85.0					17																	37871757		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.1281C>A	17.37:g.37871757C>A	ENSP00000269571:p.Asn427Lys		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.N427K	ENST00000269571.5	37	c.1281	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116785	0.37339	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.89	1.67	0.24075	EGF receptor, L domain (1);	.	.	.	.	T	0.65933	0.2739	M	0.71871	2.18	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.998	T	0.63152	-0.6701	9	0.87932	D	0	.	6.8739	0.24135	0.1239:0.6728:0.0:0.2033	.	151;397;412;427	B4DTR1;F5H1T4;P04626-4;P04626	.;.;.;ERBB2_HUMAN	K	397;412;151;427;397;397	ENSP00000385185:N397K;ENSP00000446466:N412K;ENSP00000404047:N151K;ENSP00000269571:N427K;ENSP00000443562:N397K;ENSP00000446382:N397K	ENSP00000269571:N427K	N	+	3	2	ERBB2	35125283	1.000000	0.71417	0.988000	0.46212	0.854000	0.48673	1.834000	0.39171	0.109000	0.17891	0.561000	0.74099	AAC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000141736		0.567	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	71	0.00	0	C			37871757	37871757	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	86	11.34	11	SNP	1.000	A
ERCC3	2071	genome.wustl.edu	37	2	128050294	128050294	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:128050294G>A	ENST00000285398.2	-	3	457	c.363C>T	c.(361-363)taC>taT	p.Y121Y	ERCC3_ENST00000493187.2_Silent_p.Y57Y	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	121					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)		CATACAAGGAGTAGGCAGTTA	0.502			"""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													121.0	107.0	111.0					2																	128050294		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.363C>T	2.37:g.128050294G>A			Q53QM0	Silent	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.Y121	ENST00000285398.2	37	c.363	CCDS2144.1	2																																																																																			ERCC3	-	tigrfam_XPGB_DNA_repair	ENSG00000163161		0.502	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC3	HGNC	protein_coding	OTTHUMT00000331028.1	83	0.00	0	G	NM_000122		128050294	128050294	-1	no_errors	ENST00000285398	ensembl	human	known	69_37n	silent	71	14.29	12	SNP	0.999	A
ERV3-1	2086	genome.wustl.edu	37	7	64452095	64452095	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:64452095C>T	ENST00000394323.2	-	2	1810	c.1310G>A	c.(1309-1311)tGt>tAt	p.C437Y	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	437						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ccccagtacacaggcccctga	0.498																																						dbGAP											0													47.0	39.0	42.0					7																	64452095		1890	4110	6000	-	-	-	SO:0001583	missense	0			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.1310G>A	7.37:g.64452095C>T	ENSP00000391594:p.Cys437Tyr			Missense_Mutation	SNP	NULL	p.C437Y	ENST00000394323.2	37	c.1310	CCDS47595.1	7	.	.	.	.	.	.	.	.	.	.	.	12.08	1.830194	0.32329	.	.	ENSG00000213462	ENST00000394323	T	0.20738	2.05	0.109	0.109	0.14578	.	.	.	.	.	T	0.20659	0.0497	N	0.08118	0	0.18873	N	0.999988	D	0.62365	0.991	D	0.68039	0.955	T	0.17776	-1.0358	8	0.87932	D	0	.	.	.	.	.	437	Q14264	ENR1_HUMAN	Y	437	ENSP00000391594:C437Y	ENSP00000391594:C437Y	C	-	2	0	ERV3-1	64089530	0.367000	0.25023	0.475000	0.27278	0.482000	0.33219	0.195000	0.17155	0.181000	0.19994	0.184000	0.17185	TGT	ERV3-1	-	NULL	ENSG00000213462		0.498	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	51	0.00	0	C	NM_001007253		64452095	64452095	-1	no_errors	ENST00000394323	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	0.530	T
EXOC8	149371	genome.wustl.edu	37	1	231472387	231472387	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:231472387C>T	ENST00000360394.2	-	1	1191	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	SPRTN_ENST00000391858.4_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.D365N|SPRTN_ENST00000008440.9_5'Flank|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	369					cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTAGGTTTATCTTCCAGGTAA	0.502																																						dbGAP											0													66.0	70.0	69.0					1																	231472387		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.1105G>A	1.37:g.231472387C>T	ENSP00000353564:p.Asp369Asn		B3KU33|Q5TE82	Missense_Mutation	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D369N	ENST00000360394.2	37	c.1105	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750324	0.49257	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.77358	-1.09;-1.09	5.68	4.74	0.60224	Cullin repeat-like-containing domain (1);	0.166473	0.51477	N	0.000092	T	0.73257	0.3564	M	0.64997	1.995	0.54753	D	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.67581	-0.5634	10	0.25106	T	0.35	-18.1005	12.6917	0.56978	0.0:0.916:0.0:0.084	.	369	Q8IYI6	EXOC8_HUMAN	N	369;365	ENSP00000353564:D369N;ENSP00000355605:D365N	ENSP00000353564:D369N	D	-	1	0	EXOC8	229539010	0.996000	0.38824	1.000000	0.80357	0.950000	0.60333	3.280000	0.51677	1.286000	0.44565	0.655000	0.94253	GAT	EXOC8	-	superfamily_Cullin_repeat-like_dom	ENSG00000116903		0.502	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		90	0.00	0	C	NM_175876		231472387	231472387	-1	no_errors	ENST00000360394	ensembl	human	known	69_37n	missense	72	22.58	21	SNP	1.000	T
EXPH5	23086	genome.wustl.edu	37	11	108385391	108385391	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:108385391C>T	ENST00000265843.4	-	6	953	c.843G>A	c.(841-843)agG>agA	p.R281R	EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Silent_p.R205R|EXPH5_ENST00000525344.1_Silent_p.R274R|EXPH5_ENST00000443411.1_Silent_p.R93R	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	281					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TAAAACCTTCCCTAGGAGTTC	0.363																																						dbGAP											0													103.0	99.0	100.0					11																	108385391		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.843G>A	11.37:g.108385391C>T			Q2KHM1|Q9Y4D6	Silent	SNP	superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.R281	ENST00000265843.4	37	c.843	CCDS8341.1	11																																																																																			EXPH5	-	NULL	ENSG00000110723		0.363	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXPH5	HGNC	protein_coding	OTTHUMT00000390279.1	212	0.00	0	C	NM_015065		108385391	108385391	-1	no_errors	ENST00000265843	ensembl	human	known	69_37n	silent	148	12.94	22	SNP	0.959	T
F13A1	2162	genome.wustl.edu	37	6	6266929	6266929	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:6266929G>A	ENST00000264870.3	-	4	698	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	145					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGGATGGACAGCCGCACAGAC	0.512																																						dbGAP											0													131.0	120.0	124.0					6																	6266929		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.433C>T	6.37:g.6266929G>A			Q59HA7|Q8N6X2|Q96P24|Q9BX29	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L145	ENST00000264870.3	37	c.433	CCDS4496.1	6																																																																																			F13A1	-	pfam_Transglutaminase_N,superfamily_Ig_E-set	ENSG00000124491		0.512	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	171	0.00	0	G	NM_000129		6266929	6266929	-1	no_errors	ENST00000264870	ensembl	human	known	69_37n	silent	285	31.58	132	SNP	0.998	A
F2R	2149	genome.wustl.edu	37	5	76028300	76028300	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:76028300C>T	ENST00000319211.4	+	2	515	c.250C>T	c.(250-252)Ctt>Ttt	p.L84F		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	84					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPKK activity (GO:0000186)|anatomical structure morphogenesis (GO:0009653)|blood coagulation (GO:0007596)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|G-protein coupled receptor signaling pathway (GO:0007186)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of renin secretion into blood stream (GO:1900134)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of blood coagulation (GO:0030194)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|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 I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood coagulation (GO:0030193)|regulation of interleukin-1 beta production (GO:0032651)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol (GO:0051209)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|STAT protein import into nucleus (GO:0007262)|tyrosine phosphorylation of STAT protein (GO:0007260)	caveola (GO:0005901)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|platelet dense tubular network (GO:0031094)|postsynaptic membrane (GO:0045211)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TCAAAAACAACTTCCTGCATT	0.423																																						dbGAP											0													157.0	160.0	159.0					5																	76028300		2203	4300	6503	-	-	-	SO:0001583	missense	0			M62424	CCDS4032.1	5q13	2012-08-08			ENSG00000181104	ENSG00000181104		"""GPCR / Class A : Protease activated receptors"""	3537	protein-coding gene	gene with protein product		187930				8395910	Standard	NM_001992		Approved	TR, CF2R, PAR1, PAR-1	uc003ken.4	P25116	OTTHUMG00000131299	ENST00000319211.4:c.250C>T	5.37:g.76028300C>T	ENSP00000321326:p.Leu84Phe		Q53XV0|Q96RF7|Q9BUN4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Thrmbn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Protea_act_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.L84F	ENST00000319211.4	37	c.250	CCDS4032.1	5	.	.	.	.	.	.	.	.	.	.	C	2.713	-0.268285	0.05716	.	.	ENSG00000181104	ENST00000319211	T	0.76186	-1.0	4.88	3.1	0.35709	.	0.896444	0.09743	N	0.761575	T	0.56615	0.1997	N	0.22421	0.69	0.09310	N	1	P	0.35600	0.511	B	0.25884	0.064	T	0.39099	-0.9630	10	0.36615	T	0.2	-12.3474	9.3533	0.38151	0.0:0.7674:0.0:0.2326	.	84	P25116	PAR1_HUMAN	F	84	ENSP00000321326:L84F	ENSP00000321326:L84F	L	+	1	0	F2R	76064056	0.000000	0.05858	0.003000	0.11579	0.033000	0.12548	-0.693000	0.05121	0.761000	0.33130	0.555000	0.69702	CTT	F2R	-	NULL	ENSG00000181104		0.423	F2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2R	HGNC	protein_coding	OTTHUMT00000254068.2	196	0.00	0	C			76028300	76028300	+1	no_errors	ENST00000319211	ensembl	human	known	69_37n	missense	181	12.14	25	SNP	0.001	T
FADS2	9415	genome.wustl.edu	37	11	61607887	61607887	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:61607887C>T	ENST00000278840.4	+	3	1030	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	FADS2_ENST00000522056.1_Missense_Mutation_p.L103F|FADS2_ENST00000257261.6_Missense_Mutation_p.L112F|FADS2_ENST00000521849.1_Missense_Mutation_p.L134F	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	134				LLLL -> RTRG (in Ref. 9; CAB43280). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CGTGTTCTTCCTCCTCCTCCT	0.532																																						dbGAP											0													224.0	201.0	209.0					11																	61607887		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.400C>T	11.37:g.61607887C>T	ENSP00000278840:p.Leu134Phe		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5	p.L134F	ENST00000278840.4	37	c.400	CCDS8012.1	11	.	.	.	.	.	.	.	.	.	.	C	1.154	-0.645854	0.03531	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000518606;ENST00000278840;ENST00000517312;ENST00000521849	T;T;T;T;T;T	0.31510	1.89;1.88;1.51;1.88;1.49;1.93	4.65	1.14	0.20703	.	0.260945	0.26421	N	0.024476	T	0.09862	0.0242	N	0.05124	-0.11	0.21147	N	0.999777	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.002;0.002	T	0.32214	-0.9915	10	0.06236	T	0.91	-9.6635	4.1573	0.10266	0.1636:0.3446:0.0:0.4918	.	103;134;134;112	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	F	112;103;12;134;12;134	ENSP00000257261:L112F;ENSP00000429500:L103F;ENSP00000430054:L12F;ENSP00000278840:L134F;ENSP00000430225:L12F;ENSP00000431091:L134F	ENSP00000257261:L112F	L	+	1	0	FADS2	61364463	0.066000	0.20996	0.617000	0.29091	0.975000	0.68041	0.233000	0.17911	0.045000	0.15804	0.436000	0.28706	CTC	FADS2	-	pirsf_Fatty_acid/sphinglp_desaturase	ENSG00000134824		0.532	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS2	HGNC	protein_coding	OTTHUMT00000375586.2	129	0.00	0	C	NM_004265		61607887	61607887	+1	no_errors	ENST00000278840	ensembl	human	known	69_37n	missense	87	16.35	17	SNP	0.331	T
FAM131A	131408	genome.wustl.edu	37	3	184060696	184060697	+	Intron	DNP	CT	CT	TC			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C|T	C|T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:184060696_184060697CT>TC	ENST00000310585.4	+	2	1896				FAM131A_ENST00000453072.1_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000383847.2_Intron|FAM131A_ENST00000450976.1_Intron|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Intron			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A							extracellular region (GO:0005576)				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCTGATAGACCTTGGCATTCTT	0.574																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC026221	CCDS3262.1, CCDS3262.2, CCDS54689.1	3q27.1	2007-03-20	2007-03-20	2007-03-20	ENSG00000175182	ENSG00000175182			28308	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 40"""	C3orf40		12975309	Standard	NM_144635		Approved	MGC21688	uc003foe.3	Q6UXB0	OTTHUMG00000156206	Exception_encountered	3.37:g.184060696_184060697delinsTC			D3DNT6|G5E9B1|Q8TA84	RNA	SNP	-	NULL	ENST00000310585.4	37	NULL		3																																																																																			FAM131A	-	-	ENSG00000175182		0.574	FAM131A-002	KNOWN	basic	protein_coding	FAM131A	HGNC	protein_coding	OTTHUMT00000343462.1	67|66	0.00	0	C|T	NM_144635		184060696|184060697	184060696|184060697	+1	no_errors	ENST00000487702	ensembl	human	known	69_37n	rna	48|49	12.73|12.50	7	SNP	0.000	T|C
FAM131B	9715	genome.wustl.edu	37	7	143056073	143056073	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:143056073T>G	ENST00000409408.1	-	4	1937	c.229A>C	c.(229-231)Atg>Ctg	p.M77L	FAM131B_ENST00000409346.1_Missense_Mutation_p.M77L|FAM131B_ENST00000409578.1_Missense_Mutation_p.M93L|FAM131B_ENST00000409222.3_Missense_Mutation_p.M77L|FAM131B_ENST00000443739.2_Missense_Mutation_p.M105L			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	77										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					CCTTGCCCCATGGCTGTGGGC	0.567																																						dbGAP											0													83.0	63.0	70.0					7																	143056073		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC045611	CCDS5882.1, CCDS47734.1	7q34	2007-03-20			ENSG00000159784	ENSG00000159784			22202	protein-coding gene	gene with protein product							Standard	NM_014690		Approved	KIAA0773	uc010lpa.3	Q86XD5	OTTHUMG00000152697	ENST00000409408.1:c.229A>C	7.37:g.143056073T>G	ENSP00000387017:p.Met77Leu		A4D2H6|A6NDW3|A8K605|B8ZZN2|D3DXE3|J3KQX2|Q7L0D6|Q86T97	Missense_Mutation	SNP	NULL	p.M105L	ENST00000409408.1	37	c.313	CCDS5882.1	7	.	.	.	.	.	.	.	.	.	.	T	18.86	3.712608	0.68730	.	.	ENSG00000159784	ENST00000443739;ENST00000409578;ENST00000409346;ENST00000452076;ENST00000409408;ENST00000409222	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.06	5.06	0.68205	.	0.036627	0.85682	D	0.000000	T	0.32615	0.0835	L	0.58101	1.795	0.54753	D	0.999986	B;B	0.28713	0.22;0.053	B;B	0.26416	0.069;0.032	T	0.15694	-1.0428	10	0.62326	D	0.03	-20.0218	14.8004	0.69909	0.0:0.0:0.0:1.0	.	93;77	Q86XD5-2;Q86XD5	.;F131B_HUMAN	L	105;93;77;81;77;77	ENSP00000410603:M105L;ENSP00000386568:M93L;ENSP00000386984:M77L;ENSP00000387017:M77L;ENSP00000387147:M77L	ENSP00000387147:M77L	M	-	1	0	FAM131B	142766195	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.691000	0.84191	1.893000	0.54813	0.459000	0.35465	ATG	FAM131B	-	NULL	ENSG00000159784		0.567	FAM131B-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	FAM131B	HGNC	protein_coding	OTTHUMT00000328057.1	21	0.00	0	T	NM_014690		143056073	143056073	-1	no_errors	ENST00000443739	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	1.000	G
FAM153B	202134	genome.wustl.edu	37	5	175523892	175523892	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:175523892G>A	ENST00000253490.4	+	7	487	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Missense_Mutation_p.G67S|FAM153B_ENST00000510151.1_Missense_Mutation_p.G67S			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	144										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GACGTTGCCAGGCTCTGTGAA	0.438																																						dbGAP											0													19.0	19.0	19.0					5																	175523892		2043	4168	6211	-	-	-	SO:0001583	missense	0			AK055006	CCDS43401.1, CCDS43401.2	5q35.2	2010-05-12			ENSG00000182230	ENSG00000182230			27323	protein-coding gene	gene with protein product							Standard	NM_001265615		Approved		uc031smb.1	P0C7A2	OTTHUMG00000163181	ENST00000253490.4:c.430G>A	5.37:g.175523892G>A	ENSP00000253490:p.Gly144Ser		A8MTI1	Missense_Mutation	SNP	prints_FAM153	p.G144S	ENST00000253490.4	37	c.430		5	.	.	.	.	.	.	.	.	.	.	G	4.038	0.004676	0.07866	.	.	ENSG00000182230	ENST00000515817;ENST00000253490	.	.	.	0.54	0.54	0.17163	.	.	.	.	.	T	0.31358	0.0794	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.70716	0.97	T	0.28586	-1.0039	7	0.17832	T	0.49	.	.	.	.	.	144	P0C7A2	F153B_HUMAN	S	67;144	.	ENSP00000253490:G144S	G	+	1	0	FAM153B	175456498	0.008000	0.16893	0.012000	0.15200	0.011000	0.07611	0.764000	0.26532	0.576000	0.29452	0.391000	0.25812	GGC	FAM153B	-	NULL	ENSG00000182230		0.438	FAM153B-201	KNOWN	basic|appris_candidate_longest	protein_coding	FAM153B	HGNC	protein_coding		51	0.00	0	G	NM_001079529		175523892	175523892	+1	no_errors	ENST00000253490	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	0.013	A
FAM154B	283726	genome.wustl.edu	37	15	82575373	82575373	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:82575373C>T	ENST00000339465.5	+	3	1236	c.1167C>T	c.(1165-1167)cgC>cgT	p.R389R	FAM154B_ENST00000427381.2_Silent_p.R374R|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	389										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AATTCTTCCGCAAGATTATTC	0.383																																						dbGAP											0													43.0	44.0	44.0					15																	82575373		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AL833762	CCDS32310.1	15q25.2	2008-02-21				ENSG00000188659			33727	protein-coding gene	gene with protein product							Standard	XM_005254317		Approved	DKFZp666G057	uc002bgv.3	Q658L1		ENST00000339465.5:c.1167C>T	15.37:g.82575373C>T			B4E2M2	Silent	SNP	NULL	p.R389	ENST00000339465.5	37	c.1167	CCDS32310.1	15																																																																																			FAM154B	-	NULL	ENSG00000188659		0.383	FAM154B-001	KNOWN	basic|CCDS	protein_coding	FAM154B	HGNC	protein_coding	OTTHUMT00000419644.1	115	0.86	1	C	NM_001008226		82575373	82575373	+1	no_errors	ENST00000339465	ensembl	human	known	69_37n	silent	78	17.89	17	SNP	0.999	T
TVP23C	201158	genome.wustl.edu	37	17	15406191	15406191	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:15406191G>A	ENST00000225576.3	-	6	913	c.818C>T	c.(817-819)tCc>tTc	p.S273F	TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	273						integral component of membrane (GO:0016021)											ATGCATTCCGGATGCCAGATG	0.547																																						dbGAP											0													30.0	35.0	33.0					17																	15406191		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.818C>T	17.37:g.15406191G>A	ENSP00000225576:p.Ser273Phe		Q3LIC7	Missense_Mutation	SNP	pfam_DUF846_euk	p.S273F	ENST00000225576.3	37	c.818	CCDS11170.1	17	.	.	.	.	.	.	.	.	.	.	g	11.38	1.622866	0.28889	.	.	ENSG00000175106	ENST00000225576	T	0.27720	1.65	3.65	2.68	0.31781	.	.	.	.	.	T	0.27866	0.0686	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	P	0.62813	0.907	T	0.13335	-1.0513	9	0.87932	D	0	-3.79	7.3915	0.26913	0.1186:0.0:0.8814:0.0	.	273	Q96ET8	F18B2_HUMAN	F	273	ENSP00000225576:S273F	ENSP00000225576:S273F	S	-	2	0	FAM18B2	15346916	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	2.265000	0.43311	1.143000	0.42306	-0.366000	0.07423	TCC	FAM18B2	-	NULL	ENSG00000175106		0.547	TVP23C-001	KNOWN	basic|CCDS	protein_coding	FAM18B2	HGNC	protein_coding	OTTHUMT00000130705.2	50	0.00	0	G	NM_145301		15406191	15406191	-1	no_errors	ENST00000225576	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	1.000	A
FAM35A	54537	genome.wustl.edu	37	10	88911838	88911838	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:88911838C>T	ENST00000298784.1	+	3	841	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F	FAM35A_ENST00000298786.4_Missense_Mutation_p.L243F|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	243										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TACAGAATTTCTCAGTATAAT	0.393																																					Ovarian(175;703 2004 25460 32514 43441)	dbGAP											0													30.0	30.0	30.0					10																	88911838		2203	4296	6499	-	-	-	SO:0001583	missense	0			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.727C>T	10.37:g.88911838C>T	ENSP00000298784:p.Leu243Phe		O95885|Q9H991	Missense_Mutation	SNP	NULL	p.L243F	ENST00000298784.1	37	c.727	CCDS7383.1	10	.	.	.	.	.	.	.	.	.	.	c	19.65	3.867334	0.72065	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.26810	1.71;1.71;1.71	4.09	4.09	0.47781	.	0.110120	0.35772	N	0.002981	T	0.50017	0.1591	M	0.71581	2.175	0.39263	D	0.96425	D	0.76494	0.999	D	0.72075	0.976	T	0.58634	-0.7602	10	0.59425	D	0.04	-8.2097	16.5557	0.84484	0.0:1.0:0.0:0.0	.	243	Q86V20	FA35A_HUMAN	F	243	ENSP00000298786:L243F;ENSP00000298784:L243F;ENSP00000351064:L243F	ENSP00000298784:L243F	L	+	1	0	FAM35A	88901818	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	5.187000	0.65087	2.134000	0.65973	0.537000	0.68136	CTC	FAM35A	-	NULL	ENSG00000122376		0.393	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM35A	HGNC	protein_coding	OTTHUMT00000049196.2	131	0.00	0	C	NM_019054		88911838	88911838	+1	no_errors	ENST00000298786	ensembl	human	known	69_37n	missense	160	19.19	38	SNP	0.999	T
FAM3B	54097	genome.wustl.edu	37	21	42694932	42694932	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr21:42694932delT	ENST00000357985.2	+	2	248	c.102delT	c.(100-102)gatfs	p.D34fs	FAM3B_ENST00000398652.3_Frame_Shift_Del_p.D73fs|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Frame_Shift_Del_p.D57fs	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	34					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				TCATTCCAGATGCACCCCTGT	0.607																																						dbGAP											0													162.0	123.0	136.0					21																	42694932		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	ENST00000357985.2:c.102delT	21.37:g.42694932delT	ENSP00000350673:p.Asp34fs			Frame_Shift_Del	DEL	NULL	p.D34fs	ENST00000357985.2	37	c.102	CCDS13671.1	21																																																																																			FAM3B	-	NULL	ENSG00000183844		0.607	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3B	HGNC	protein_coding	OTTHUMT00000195142.1	49	0.00	0	T	NM_058186		42694932	42694932	+1	no_errors	ENST00000357985	ensembl	human	known	69_37n	frame_shift_del	24	52.83	28	DEL	0.000	-
FAM3B	54097	genome.wustl.edu	37	21	42694934	42694935	+	In_Frame_Ins	INS	-	-	TTT			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr21:42694934_42694935insTTT	ENST00000357985.2	+	2	250_251	c.104_105insTTT	c.(103-108)gcaccc>gcTTTaccc	p.35_36AP>ALP	FAM3B_ENST00000398652.3_In_Frame_Ins_p.74_75AP>ALP|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_In_Frame_Ins_p.58_59AP>ALP	NM_058186.3	NP_478066.3	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	35					apoptotic process (GO:0006915)|insulin secretion (GO:0030073)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				ATTCCAGATGCACCCCTGTCCA	0.609																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AF494379	CCDS13671.1, CCDS42930.1	21q22.3	2014-08-14	2002-05-23	2002-06-20	ENSG00000183844	ENSG00000183844			1253	protein-coding gene	gene with protein product	"""pancreatic-derived factor"""	608617	"""chromosome 21 open reading frame 11"""	C21orf11			Standard	NM_058186		Approved	D21M16SJHU19e, PRED44, 2-21, ORF9, C21orf76, PANDER	uc002yzb.1	P58499	OTTHUMG00000086752	Exception_encountered	21.37:g.42694934_42694935insTTT	ENSP00000350673:p.Ala35_Pro36insLeu			In_Frame_Ins	INS	NULL	p.36in_frame_insL	ENST00000357985.2	37	c.104_105	CCDS13671.1	21																																																																																			FAM3B	-	NULL	ENSG00000183844		0.609	FAM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3B	HGNC	protein_coding	OTTHUMT00000195142.1	51	0.00	0	-	NM_058186		42694934	42694935	+1	no_errors	ENST00000357985	ensembl	human	known	69_37n	in_frame_ins	24	53.85	28	INS	0.000:0.000	TTT
FAM71A	149647	genome.wustl.edu	37	1	212799282	212799282	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:212799282G>A	ENST00000294829.3	+	1	1494	c.1063G>A	c.(1063-1065)Gtt>Att	p.V355I	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	355	Ala-rich.					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)		CTCAGAGCATGTTTCCAGCGC	0.582																																						dbGAP											0													61.0	65.0	64.0					1																	212799282		2203	4300	6503	-	-	-	SO:0001583	missense	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.1063G>A	1.37:g.212799282G>A	ENSP00000294829:p.Val355Ile		Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.V355I	ENST00000294829.3	37	c.1063	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	G	2.141	-0.396883	0.04899	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.03553	3.89	3.88	-7.77	0.01227	.	.	.	.	.	T	0.02083	0.0065	N	0.19112	0.55	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.43814	-0.9368	9	0.06099	T	0.92	6.0089	12.1415	0.54000	0.1228:0.5189:0.3583:0.0	.	355	Q8IYT1	FA71A_HUMAN	I	355;130	ENSP00000294829:V355I	ENSP00000294829:V355I	V	+	1	0	FAM71A	210865905	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.205000	0.00559	-4.534000	0.00043	-0.768000	0.03414	GTT	FAM71A	-	NULL	ENSG00000162771		0.582	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	62	0.00	0	G	NM_153606		212799282	212799282	+1	no_errors	ENST00000294829	ensembl	human	known	69_37n	missense	53	13.11	8	SNP	0.000	A
FAM71A	149647	genome.wustl.edu	37	1	212799693	212799693	+	Missense_Mutation	SNP	G	G	A	rs112892654		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:212799693G>A	ENST00000294829.3	+	1	1905	c.1474G>A	c.(1474-1476)Ggt>Agt	p.G492S	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	492						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)		CTCGCATAAAGGTGTCAGCCA	0.562																																						dbGAP											0													87.0	81.0	83.0					1																	212799693		2203	4300	6503	-	-	-	SO:0001583	missense	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.1474G>A	1.37:g.212799693G>A	ENSP00000294829:p.Gly492Ser		Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.G492S	ENST00000294829.3	37	c.1474	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	G	9.017	0.983990	0.18889	.	.	ENSG00000162771	ENST00000294829;ENST00000545975	T	0.03982	3.74	4.58	3.66	0.41972	.	.	.	.	.	T	0.03608	0.0103	L	0.33668	1.02	0.09310	N	1	P	0.47841	0.901	B	0.40565	0.333	T	0.07366	-1.0776	9	0.05525	T	0.97	-11.6893	8.9121	0.35559	0.1021:0.0:0.8979:0.0	.	492	Q8IYT1	FA71A_HUMAN	S	492;267	ENSP00000294829:G492S	ENSP00000294829:G492S	G	+	1	0	FAM71A	210866316	0.097000	0.21791	0.018000	0.16275	0.015000	0.08874	2.488000	0.45276	1.302000	0.44855	0.561000	0.74099	GGT	FAM71A	-	NULL	ENSG00000162771		0.562	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	87	0.00	0	G	NM_153606		212799693	212799693	+1	no_errors	ENST00000294829	ensembl	human	known	69_37n	missense	87	13.00	13	SNP	0.032	A
FAM71B	153745	genome.wustl.edu	37	5	156589684	156589685	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:156589684_156589685insA	ENST00000302938.4	-	2	1686_1687	c.1591_1592insT	c.(1591-1593)gccfs	p.A531fs		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	531						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATCTTACTGGCTTTCTTTTGT	0.475																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1591_1592insT	5.37:g.156589684_156589685insA	ENSP00000305596:p.Ala531fs		Q1EDD9|Q8TC64|Q96LY8	Frame_Shift_Ins	INS	pfam_DUF3699	p.A531fs	ENST00000302938.4	37	c.1592_1591	CCDS4335.1	5																																																																																			FAM71B	-	NULL	ENSG00000170613		0.475	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	140	0.00	0	-	NM_130899		156589684	156589685	-1	no_errors	ENST00000302938	ensembl	human	known	69_37n	frame_shift_ins	157	15.59	29	INS	0.140:0.128	A
FAM71B	153745	genome.wustl.edu	37	5	156590311	156590311	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:156590311C>T	ENST00000302938.4	-	2	1060	c.965G>A	c.(964-966)gGa>gAa	p.G322E		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	322						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCATTTTCTCCTGGATTTTT	0.527																																						dbGAP											0													121.0	119.0	119.0					5																	156590311		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.965G>A	5.37:g.156590311C>T	ENSP00000305596:p.Gly322Glu		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	pfam_DUF3699	p.G322E	ENST00000302938.4	37	c.965	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	C	9.928	1.214039	0.22289	.	.	ENSG00000170613	ENST00000302938	T	0.03745	3.82	3.96	1.18	0.20946	.	0.694548	0.12573	N	0.457117	T	0.02571	0.0078	L	0.41824	1.3	0.09310	N	1	B	0.25719	0.132	B	0.24155	0.051	T	0.46789	-0.9166	10	0.05959	T	0.93	-1.5952	3.3046	0.06996	0.2057:0.5747:0.0:0.2196	.	322	Q8TC56	FA71B_HUMAN	E	322	ENSP00000305596:G322E	ENSP00000305596:G322E	G	-	2	0	FAM71B	156522889	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.247000	0.18179	0.234000	0.21139	-0.136000	0.14681	GGA	FAM71B	-	NULL	ENSG00000170613		0.527	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	143	0.00	0	C	NM_130899		156590311	156590311	-1	no_errors	ENST00000302938	ensembl	human	known	69_37n	missense	103	11.21	13	SNP	0.003	T
FAM83C	128876	genome.wustl.edu	37	20	33875168	33875168	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:33875168C>T	ENST00000374408.3	-	4	1510	c.1414G>A	c.(1414-1416)Gga>Aga	p.G472R	EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000374443.3_5'Flank|EIF6_ENST00000462894.1_5'Flank|EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	472										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCTTGGCTTCCTGGGAGCCCA	0.647																																						dbGAP											0													25.0	26.0	26.0					20																	33875168		2194	4283	6477	-	-	-	SO:0001583	missense	0			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.1414G>A	20.37:g.33875168C>T	ENSP00000363529:p.Gly472Arg		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	pfam_DUF1669	p.G472R	ENST00000374408.3	37	c.1414	CCDS13251.1	20	.	.	.	.	.	.	.	.	.	.	C	10.24	1.295383	0.23564	.	.	ENSG00000125998	ENST00000374408	T	0.06768	3.26	4.81	1.58	0.23477	.	1.039030	0.07620	N	0.926857	T	0.11623	0.0283	M	0.72353	2.195	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.32295	-0.9912	10	0.59425	D	0.04	-7.55	5.9861	0.19434	0.0:0.5296:0.2959:0.1745	.	472	Q9BQN1	FA83C_HUMAN	R	472	ENSP00000363529:G472R	ENSP00000363529:G472R	G	-	1	0	FAM83C	33338582	0.233000	0.23772	0.560000	0.28344	0.103000	0.19146	1.204000	0.32296	0.581000	0.29539	-0.218000	0.12543	GGA	FAM83C	-	NULL	ENSG00000125998		0.647	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	35	0.00	0	C			33875168	33875168	-1	no_errors	ENST00000374408	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	0.031	T
ALG1L2	644974	genome.wustl.edu	37	3	129818089	129818089	+	RNA	DEL	C	C	-			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:129818089delC	ENST00000507643.1	+	0	815				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										CCGTTGGAGTCGTGTATGAGT	0.438																																						dbGAP											0																																										-	-	-			0			BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129818089delC				RNA	DEL	-	NULL	ENST00000507643.1	37	NULL		3																																																																																			FAM86HP	-	-	ENSG00000253540		0.438	ALG1L2-002	KNOWN	basic	processed_transcript	FAM86HP	HGNC	pseudogene	OTTHUMT00000357289.1	87	0.00	0	C	NM_001136152		129818089	129818089	-1	no_errors	ENST00000511564	ensembl	human	putative	69_37n	rna	55	23.29	17	DEL	0.000	-
FASTKD5	60493	genome.wustl.edu	37	20	3129586	3129586	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:3129586G>A	ENST00000380266.3	-	2	452	c.131C>T	c.(130-132)cCa>cTa	p.P44L	UBOX5_ENST00000348031.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	44					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AATGTGTTCTGGAGGGTCCTG	0.502																																						dbGAP											0													116.0	114.0	114.0					20																	3129586		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.131C>T	20.37:g.3129586G>A	ENSP00000369618:p.Pro44Leu		Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.P44L	ENST00000380266.3	37	c.131	CCDS13048.1	20	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003625	0.54254	.	.	ENSG00000215251	ENST00000380266	T	0.15834	2.39	4.53	4.53	0.55603	.	1.853160	0.03320	N	0.191778	T	0.14700	0.0355	L	0.32530	0.975	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.18713	-1.0328	10	0.41790	T	0.15	.	3.6338	0.08142	0.0899:0.2459:0.5095:0.1547	.	44	Q7L8L6	FAKD5_HUMAN	L	44	ENSP00000369618:P44L	ENSP00000369618:P44L	P	-	2	0	FASTKD5	3077586	0.573000	0.26676	0.005000	0.12908	0.206000	0.24218	2.401000	0.44513	2.354000	0.79902	0.462000	0.41574	CCA	FASTKD5	-	NULL	ENSG00000215251		0.502	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	HGNC	protein_coding	OTTHUMT00000077701.2	92	0.00	0	G	NM_021826		3129586	3129586	-1	no_errors	ENST00000380266	ensembl	human	known	69_37n	missense	134	10.67	16	SNP	0.002	A
FAT4	79633	genome.wustl.edu	37	4	126411332	126411332	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:126411332G>A	ENST00000394329.3	+	17	13368	c.13355G>A	c.(13354-13356)aGc>aAc	p.S4452N	FAT4_ENST00000335110.5_Missense_Mutation_p.S2693N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4452	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						TTCACCTGTAGCTGCCCAGAC	0.627																																						dbGAP											0													70.0	63.0	65.0					4																	126411332		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.13355G>A	4.37:g.126411332G>A	ENSP00000377862:p.Ser4452Asn		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.S4452N	ENST00000394329.3	37	c.13355	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	G	5.893	0.348888	0.11126	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.86030	-2.06;-2.06	5.17	1.2	0.21068	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.41001	U	0.000973	T	0.70141	0.3190	L	0.31578	0.945	0.28505	N	0.913833	B;B;B	0.14012	0.0;0.005;0.009	B;B;B	0.15484	0.001;0.003;0.013	T	0.52434	-0.8576	10	0.17832	T	0.49	.	4.3885	0.11328	0.2221:0.0:0.5233:0.2546	.	2693;4452;4451	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	4452;2693	ENSP00000377862:S4452N;ENSP00000335169:S2693N	ENSP00000335169:S2693N	S	+	2	0	FAT4	126630782	1.000000	0.71417	0.994000	0.49952	0.239000	0.25481	1.188000	0.32102	0.573000	0.29400	0.561000	0.74099	AGC	FAT4	-	smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000196159		0.627	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	148	0.00	0	G	NM_024582		126411332	126411332	+1	no_errors	ENST00000394329	ensembl	human	known	69_37n	missense	242	16.26	47	SNP	0.896	A
FAT1	2195	genome.wustl.edu	37	4	187521364	187521364	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:187521364G>A	ENST00000441802.2	-	22	12000	c.11791C>T	c.(11791-11793)Cat>Tat	p.H3931Y	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3931	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				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						GATGCAGTATGAACTTGGTCT	0.512										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	dbGAP											0													57.0	57.0	57.0					4																	187521364		1988	4163	6151	-	-	-	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.11791C>T	4.37:g.187521364G>A	ENSP00000406229:p.His3931Tyr			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.H3931Y	ENST00000441802.2	37	c.11791	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973350	0.34848	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.77750	-1.12	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	N	0.16016	0.355	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.69034	-0.5252	10	0.06236	T	0.91	.	18.7161	0.91677	0.0:0.0:1.0:0.0	.	3931	Q14517	FAT1_HUMAN	Y	3931;3933	ENSP00000406229:H3931Y	ENSP00000260147:H3933Y	H	-	1	0	FAT1	187758358	1.000000	0.71417	0.990000	0.47175	0.854000	0.48673	9.201000	0.95017	2.726000	0.93360	0.655000	0.94253	CAT	FAT1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000083857		0.512	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	74	0.00	0	G	NM_005245		187521364	187521364	-1	no_errors	ENST00000441802	ensembl	human	known	69_37n	missense	109	34.73	58	SNP	1.000	A
FBLN7	129804	genome.wustl.edu	37	2	112917318	112917318	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:112917318G>A	ENST00000331203.2	+	2	412	c.141G>A	c.(139-141)caG>caA	p.Q47Q	FBLN7_ENST00000409903.1_Silent_p.Q47Q|FBLN7_ENST00000409667.3_Silent_p.Q47Q|FBLN7_ENST00000472377.1_3'UTR|FBLN7_ENST00000409450.3_Silent_p.Q47Q	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	47					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TGAAGGGCCAGGAGACACGCT	0.652																																						dbGAP											0													33.0	34.0	34.0					2																	112917318		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.141G>A	2.37:g.112917318G>A			A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP	p.Q47	ENST00000331203.2	37	c.141	CCDS2095.1	2																																																																																			FBLN7	-	NULL	ENSG00000144152		0.652	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBLN7	HGNC	protein_coding	OTTHUMT00000330505.1	23	0.00	0	G	NM_153214		112917318	112917318	+1	no_errors	ENST00000331203	ensembl	human	known	69_37n	silent	51	16.39	10	SNP	1.000	A
FBXO28	23219	genome.wustl.edu	37	1	224318194	224318194	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:224318194G>A	ENST00000366862.5	+	2	331	c.288G>A	c.(286-288)ttG>ttA	p.L96L	FBXO28_ENST00000424254.2_Silent_p.L96L	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	96	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GAATGGACTTGGTCTGCCAGA	0.368																																						dbGAP											0													133.0	127.0	129.0					1																	224318194		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001628	CCDS1539.1, CCDS44320.1	1q42.12	2011-08-12			ENSG00000143756	ENSG00000143756		"""F-boxes /  ""other"""""	29046	protein-coding gene	gene with protein product	"""centromere protein 30"""	609100				9455484	Standard	NM_015176		Approved	FLJ10766, KIAA0483, Fbx28, CENP-30	uc001hoh.3	Q9NVF7	OTTHUMG00000037495	ENST00000366862.5:c.288G>A	1.37:g.224318194G>A			E9PEM8|O75070	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.L96	ENST00000366862.5	37	c.288	CCDS1539.1	1																																																																																			FBXO28	-	pfscan_F-box_dom_cyclin-like	ENSG00000143756		0.368	FBXO28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO28	HGNC	protein_coding	OTTHUMT00000091283.2	111	0.00	0	G	NM_015176		224318194	224318194	+1	no_errors	ENST00000366862	ensembl	human	known	69_37n	silent	107	15.08	19	SNP	1.000	A
FBXO33	254170	genome.wustl.edu	37	14	39870860	39870860	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:39870860C>T	ENST00000298097.7	-	3	1253	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	306					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TGCAGATTCACAAATCGCTCC	0.438																																						dbGAP											0													126.0	114.0	118.0					14																	39870860		2203	4300	6503	-	-	-	SO:0001583	missense	0			BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.916G>A	14.37:g.39870860C>T	ENSP00000298097:p.Val306Met		Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	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.V306M	ENST00000298097.7	37	c.916	CCDS9677.1	14	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484647	0.63962	.	.	ENSG00000165355	ENST00000298097	T	0.00986	5.47	6.03	5.14	0.70334	.	0.118296	0.64402	D	0.000016	T	0.01029	0.0034	L	0.27053	0.805	0.80722	D	1	B	0.26195	0.144	B	0.20955	0.032	T	0.68364	-0.5428	9	.	.	.	-0.5475	15.4147	0.74956	0.0:0.9336:0.0:0.0664	.	306	Q7Z6M2	FBX33_HUMAN	M	306	ENSP00000298097:V306M	.	V	-	1	0	FBXO33	38940611	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	4.519000	0.60517	1.561000	0.49584	0.655000	0.94253	GTG	FBXO33	-	NULL	ENSG00000165355		0.438	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO33	HGNC	protein_coding	OTTHUMT00000276769.2	196	0.00	0	C			39870860	39870860	-1	no_errors	ENST00000298097	ensembl	human	known	69_37n	missense	190	10.80	23	SNP	0.999	T
FBXW2	26190	genome.wustl.edu	37	9	123526846	123526846	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:123526846C>T	ENST00000608872.1	-	8	1543	c.1356G>A	c.(1354-1356)gaG>gaA	p.E452E	FBXW2_ENST00000340778.5_Silent_p.E387E|FBXW2_ENST00000493559.1_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	452					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GTCAGCCGTGCTCCTTCCACA	0.587																																						dbGAP											0													98.0	108.0	105.0					9																	123526846		2177	4270	6447	-	-	-	SO:0001819	synonymous_variant	0			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1356G>A	9.37:g.123526846C>T			B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Silent	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,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E452	ENST00000608872.1	37	c.1356	CCDS43872.1	9																																																																																			FBXW2	-	NULL	ENSG00000119402		0.587	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2	136	0.00	0	C			123526846	123526846	-1	no_errors	ENST00000373926	ensembl	human	known	69_37n	silent	178	16.04	34	SNP	0.997	T
FCHO1	23149	genome.wustl.edu	37	19	17895618	17895618	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:17895618G>A	ENST00000596536.1	+	26	2594	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	FCHO1_ENST00000600676.1_Missense_Mutation_p.E771K|FCHO1_ENST00000252771.7_Missense_Mutation_p.E771K|FCHO1_ENST00000596951.1_Missense_Mutation_p.E771K|FCHO1_ENST00000389133.4_Missense_Mutation_p.E771K|FCHO1_ENST00000539407.1_Missense_Mutation_p.E771K|FCHO1_ENST00000594202.1_Missense_Mutation_p.E771K|FCHO1_ENST00000597512.1_Missense_Mutation_p.E778K|FCHO1_ENST00000595033.1_Missense_Mutation_p.E721K	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	771	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.|Mediates interaction with AGFG1, CALM, DAB2, EPS15, EPS15R, ITSN1 and clathrin.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GGTCTCAGTGGAGTACGGCTA	0.642											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													105.0	102.0	103.0					19																	17895618		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.2311G>A	19.37:g.17895618G>A	ENSP00000470731:p.Glu771Lys	721	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_FCH,superfamily_Clathrin_mu_C,smart_FCH,pfscan_FCH	p.E771K	ENST00000596536.1	37	c.2311	CCDS32955.1	19	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121572	0.77436	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.42131	0.98;0.98;0.98	3.7	3.7	0.42460	Muniscin C-terminal mu homology domain (1);	0.344680	0.25517	N	0.030135	T	0.50086	0.1595	L	0.34521	1.04	0.51012	D	0.999901	D;D	0.64830	0.994;0.993	D;P	0.64506	0.926;0.879	T	0.54642	-0.8263	10	0.87932	D	0	-18.5524	13.298	0.60309	0.0:0.0:1.0:0.0	.	771;771	O14526;O14526-2	FCHO1_HUMAN;.	K	771	ENSP00000252771:E771K;ENSP00000373785:E771K;ENSP00000437978:E771K	ENSP00000252771:E771K	E	+	1	0	FCHO1	17756618	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	5.266000	0.65525	2.091000	0.63221	0.491000	0.48974	GAG	FCHO1	-	superfamily_Clathrin_mu_C	ENSG00000130475		0.642	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	HGNC	protein_coding	OTTHUMT00000466946.2	73	0.00	0	G	NM_015122		17895618	17895618	+1	no_errors	ENST00000252771	ensembl	human	known	69_37n	missense	44	85.90	268	SNP	1.000	A
FGF14	2259	genome.wustl.edu	37	13	102521102	102521102	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:102521102C>T	ENST00000376143.4	-	3	380	c.381G>A	c.(379-381)atG>atA	p.M127I	FGF14_ENST00000468052.1_5'UTR|FGF14_ENST00000376131.4_Missense_Mutation_p.M132I	NM_004115.3	NP_004106.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	127					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTCTCCATTCATGGCTATAT	0.428																																						dbGAP											0													221.0	188.0	199.0					13																	102521102		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376143.4:c.381G>A	13.37:g.102521102C>T	ENSP00000365313:p.Met127Ile		Q86YN7|Q96QX6	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.M132I	ENST00000376143.4	37	c.396	CCDS9501.1	13	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431001	0.83776	.	.	ENSG00000102466	ENST00000376131;ENST00000376143	D;D	0.83673	-1.75;-1.75	5.87	5.87	0.94306	.	0.079355	0.85682	D	0.000000	D	0.90854	0.7127	M	0.86651	2.83	0.58432	D	0.999995	B;P	0.50617	0.017;0.937	B;D	0.63957	0.056;0.92	D	0.91290	0.5058	10	0.72032	D	0.01	.	11.5446	0.50685	0.0:0.8931:0.0:0.1069	.	132;127	Q92915-2;Q92915	.;FGF14_HUMAN	I	132;127	ENSP00000365301:M132I;ENSP00000365313:M127I	ENSP00000365301:M132I	M	-	3	0	FGF14	101319103	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.591000	0.67536	2.941000	0.99782	0.655000	0.94253	ATG	FGF14	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	ENSG00000102466		0.428	FGF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF14	HGNC	protein_coding	OTTHUMT00000045679.2	180	0.00	0	C			102521102	102521102	-1	no_errors	ENST00000376131	ensembl	human	known	69_37n	missense	72	15.29	13	SNP	1.000	T
FGFR1	2260	genome.wustl.edu	37	8	38277218	38277218	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:38277218G>A	ENST00000447712.2	-	9	2058	c.1117C>T	c.(1117-1119)Ctg>Ttg	p.L373L	FGFR1_ENST00000425967.3_Silent_p.L404L|FGFR1_ENST00000326324.6_Silent_p.L282L|FGFR1_ENST00000397091.5_Silent_p.L371L|FGFR1_ENST00000356207.5_Silent_p.L284L|FGFR1_ENST00000341462.5_Silent_p.L373L|FGFR1_ENST00000335922.5_Silent_p.L365L|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000397113.2_Silent_p.L371L|FGFR1_ENST00000397108.4_Silent_p.L371L|FGFR1_ENST00000397103.1_Silent_p.L284L|FGFR1_ENST00000532791.1_Silent_p.L373L	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	373					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)	TCCAGGTACAGGGGCGAGGTC	0.587		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													57.0	58.0	58.0					8																	38277218		2014	4171	6185	-	-	-	SO:0001819	synonymous_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.1117C>T	8.37:g.38277218G>A			A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	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.L404	ENST00000447712.2	37	c.1210	CCDS6107.2	8																																																																																			FGFR1	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt	ENSG00000077782		0.587	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		48	0.00	0	G			38277218	38277218	-1	no_errors	ENST00000425967	ensembl	human	known	69_37n	silent	21	22.22	6	SNP	0.140	A
FGFR1OP	11116	genome.wustl.edu	37	6	167447390	167447390	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:167447390G>A	ENST00000366847.4	+	12	1287	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	RP11-517H2.6_ENST00000609590.1_RNA|FGFR1OP_ENST00000349556.4_Silent_p.E332E	NM_007045.2	NP_008976.1	O95684	FR1OP_HUMAN	FGFR1 oncogene partner	352					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein tyrosine kinase activity (GO:0061099)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|protein tyrosine kinase inhibitor activity (GO:0030292)			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		AGAAAAGTGAGATAAGTATTG	0.343			T	FGFR1	"""MPD, NHL"""																																	dbGAP		Dom	yes		6	6q27	11116	FGFR1 oncogene partner (FOP)		L	0													97.0	96.0	97.0					6																	167447390		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y18046	CCDS5296.1, CCDS5297.1, CCDS75550.1	6q27	2008-02-05			ENSG00000213066	ENSG00000213066			17012	protein-coding gene	gene with protein product		605392				9949182, 10373756	Standard	NM_007045		Approved	FOP	uc003qvj.3	O95684	OTTHUMG00000016011	ENST00000366847.4:c.1056G>A	6.37:g.167447390G>A			A8K1D1|B2R705|Q49AI0|Q5R3F6|Q96EW1	Silent	SNP	pfam_FOP_dimerisation-dom_N,pfscan_LisH_dimerisation	p.E352	ENST00000366847.4	37	c.1056	CCDS5296.1	6																																																																																			FGFR1OP	-	NULL	ENSG00000213066		0.343	FGFR1OP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1OP	HGNC	protein_coding	OTTHUMT00000043099.2	174	0.00	0	G	NM_007045		167447390	167447390	+1	no_errors	ENST00000366847	ensembl	human	known	69_37n	silent	108	10.00	12	SNP	0.046	A
FKBP4	2288	genome.wustl.edu	37	12	2908305	2908305	+	Missense_Mutation	SNP	G	G	A	rs55672055	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:2908305G>A	ENST00000001008.4	+	5	753	c.566G>A	c.(565-567)cGc>cAc	p.R189H	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	189	PPIase FKBP-type 2. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CGGGAGCTCCGCTTTGAGATT	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		20297	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													85.0	84.0	84.0					12																	2908305		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.566G>A	12.37:g.2908305G>A	ENSP00000001008:p.Arg189His		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.R189H	ENST00000001008.4	37	c.566	CCDS8512.1	12	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	11.58	1.681095	0.29872	.	.	ENSG00000004478	ENST00000001008	D	0.85702	-2.02	5.17	-0.586	0.11694	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.662303	0.16543	N	0.209844	T	0.80999	0.4732	M	0.68952	2.095	0.27204	N	0.9601	B	0.11235	0.004	B	0.10450	0.005	T	0.69194	-0.5209	10	0.46703	T	0.11	0.059	9.6532	0.39910	0.5077:0.0:0.4923:0.0	rs55672055	189	Q02790	FKBP4_HUMAN	H	189	ENSP00000001008:R189H	ENSP00000001008:R189H	R	+	2	0	FKBP4	2778566	1.000000	0.71417	0.934000	0.37439	0.504000	0.33889	1.286000	0.33273	-0.437000	0.07243	-0.300000	0.09419	CGC	FKBP4	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000004478		0.537	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	HGNC	protein_coding	OTTHUMT00000206861.1	57	0.00	0	G			2908305	2908305	+1	no_errors	ENST00000001008	ensembl	human	known	69_37n	missense	60	13.04	9	SNP	0.602	A
FLII	2314	genome.wustl.edu	37	17	18155318	18155319	+	Missense_Mutation	DNP	GC	GC	CG			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:18155318_18155319GC>CG	ENST00000327031.4	-	11	1465_1466	c.1240_1241GC>CG	c.(1240-1242)GCa>CGa	p.A414R	FLII_ENST00000379450.4_Missense_Mutation_p.A329R|FLII_ENST00000584444.1_5'Flank|FLII_ENST00000545457.2_Missense_Mutation_p.A360R|FLII_ENST00000578558.1_Missense_Mutation_p.A414R|FLII_ENST00000579294.1_Missense_Mutation_p.A403R	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	414	Interaction with LRRFIP1 and LRRFIP2.|Poly-Ala.				multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CTCACCAGCTGCAGCTGCAGCC	0.609																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1240_1241delinsCG	17.37:g.18155318_18155319delinsCG	ENSP00000324573:p.Ala414Arg		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Gelsolin,prints_Gelsolin	p.A414G|p.A414P	ENST00000327031.4	37	c.1241|c.1240	CCDS11192.1	17																																																																																			FLII	-	NULL	ENSG00000177731		0.609	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	HGNC	protein_coding	OTTHUMT00000132032.2	19|20	0.00	0	G|C	NM_002018		18155318|18155319	18155318|18155319	-1	no_errors	ENST00000327031	ensembl	human	known	69_37n	missense	8	75.76|73.33	25|22	SNP	0.996	C|G
RPL23AP87	388574	genome.wustl.edu	37	17	81188036	81188036	+	RNA	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:81188036G>A	ENST00000425566.1	+	0	1719					NR_029406.1																						CTGTGAAGAAGGTCTATGACA	0.463																																						dbGAP											0																																										-	-	-			0																															17.37:g.81188036G>A				RNA	SNP	-	NULL	ENST00000425566.1	37	NULL		17																																																																																			AC139099.3	-	-	ENSG00000232938		0.463	AC139099.3-002	KNOWN	basic	processed_transcript	FLJ43681	Clone_based_vega_gene	pseudogene	OTTHUMT00000438917.1	104	0.00	0	G			81188036	81188036	+1	no_errors	ENST00000425566	ensembl	human	known	69_37n	rna	89	11.76	12	SNP	1.000	A
FLNB	2317	genome.wustl.edu	37	3	58107160	58107160	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:58107160C>T	ENST00000295956.4	+	20	3221	c.3056C>T	c.(3055-3057)aCc>aTc	p.T1019I	FLNB_ENST00000419752.2_Missense_Mutation_p.T850I|FLNB_ENST00000490882.1_Missense_Mutation_p.T1019I|FLNB_ENST00000493452.1_Missense_Mutation_p.T850I|FLNB_ENST00000357272.4_Missense_Mutation_p.T1019I|FLNB_ENST00000358537.3_Missense_Mutation_p.T1019I|FLNB_ENST00000348383.5_Missense_Mutation_p.T1019I|FLNB_ENST00000429972.2_Missense_Mutation_p.T1019I	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1019					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)		GTAGACGTGACCTACGATGGA	0.607																																						dbGAP											0													124.0	120.0	121.0					3																	58107160		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.3056C>T	3.37:g.58107160C>T	ENSP00000295956:p.Thr1019Ile		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.T1019I	ENST00000295956.4	37	c.3056	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268509	0.59540	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.85411	-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98;-1.98	5.99	5.1	0.69264	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.280656	0.45867	D	0.000331	D	0.89248	0.6661	M	0.87682	2.9	0.36023	D	0.838856	B;P;B;B;B;B	0.52316	0.234;0.952;0.357;0.029;0.302;0.302	B;P;P;B;B;B	0.51550	0.255;0.673;0.481;0.217;0.297;0.297	D	0.92376	0.5909	10	0.87932	D	0	.	9.2645	0.37632	0.1173:0.5577:0.325:0.0	.	1019;1019;850;850;1019;1019	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	I	1019;1019;1019;1019;1019;1019;850;850	ENSP00000295956:T1019I;ENSP00000420213:T1019I;ENSP00000351339:T1019I;ENSP00000415599:T1019I;ENSP00000232447:T1019I;ENSP00000349819:T1019I;ENSP00000418510:T850I;ENSP00000414532:T850I	ENSP00000295956:T1019I	T	+	2	0	FLNB	58082200	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	3.303000	0.51858	2.840000	0.97914	0.655000	0.94253	ACC	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.607	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	113	0.00	0	C	NM_001457		58107160	58107160	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	missense	80	10.11	9	SNP	1.000	T
FN1	2335	genome.wustl.edu	37	2	216298144	216298144	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:216298144G>A	ENST00000359671.1	-	3	583	c.318C>T	c.(316-318)taC>taT	p.Y106Y	FN1_ENST00000443816.1_Silent_p.Y106Y|FN1_ENST00000446046.1_Silent_p.Y106Y|FN1_ENST00000323926.6_Silent_p.Y106Y|FN1_ENST00000345488.5_Silent_p.Y106Y|FN1_ENST00000356005.4_Silent_p.Y106Y|FN1_ENST00000357867.4_Silent_p.Y106Y|FN1_ENST00000336916.4_Silent_p.Y106Y|FN1_ENST00000432072.2_Silent_p.Y106Y|FN1_ENST00000354785.4_Silent_p.Y106Y|FN1_ENST00000426059.1_Silent_p.Y106Y|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000346544.3_Silent_p.Y106Y|FN1_ENST00000421182.1_Silent_p.Y106Y|FN1_ENST00000357009.2_Silent_p.Y106Y			P02751	FINC_HUMAN	fibronectin 1	106	Fibrin- and heparin-binding 1.|Fibronectin type-I 2. {ECO:0000255|PROSITE-ProRule:PRU00478}.				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)	CACCCACTCGGTAAGTGTTCC	0.493																																						dbGAP											0													126.0	104.0	112.0					2																	216298144		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.318C>T	2.37:g.216298144G>A			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.Y106	ENST00000359671.1	37	c.318		2																																																																																			FN1	-	pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1	ENSG00000115414		0.493	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		63	0.00	0	G	NM_212476		216298144	216298144	-1	no_errors	ENST00000354785	ensembl	human	known	69_37n	silent	59	16.90	12	SNP	1.000	A
FOSB	2354	genome.wustl.edu	37	19	45974093	45974093	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:45974093C>T	ENST00000353609.3	+	2	925	c.333C>T	c.(331-333)ggC>ggT	p.G111G	FOSB_ENST00000590335.1_Silent_p.G111G|FOSB_ENST00000592436.1_Silent_p.G111G|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000586615.1_Silent_p.G62G|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000585836.1_Silent_p.G72G|FOSB_ENST00000591858.1_Silent_p.G72G|FOSB_ENST00000417353.2_Silent_p.G111G|FOSB_ENST00000592811.1_Silent_p.G62G	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	111					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		GCATGAGTGGCTACAGCAGTG	0.701																																						dbGAP											0													73.0	83.0	80.0					19																	45974093		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS12664.1, CCDS46113.1	19q13.3	2013-01-10						"""basic leucine zipper proteins"""	3797	protein-coding gene	gene with protein product	"""oncogene FOS-B"", ""activator protein 1"""	164772				1301997	Standard	NM_006732		Approved	G0S3, GOSB, GOS3, AP-1, MGC42291, DKFZp686C0818	uc002pbx.4	P53539		ENST00000353609.3:c.333C>T	19.37:g.45974093C>T			A8K9K5|A8VJE1|A8VJE6|A8VJF0|A8VJF3|A8VJF7|A8VJG1|A8VJG5|A8VJG9|E7EPR6|E9PHJ3|K7EMJ6|Q49AD7	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.G111	ENST00000353609.3	37	c.333	CCDS12664.1	19																																																																																			FOSB	-	NULL	ENSG00000125740		0.701	FOSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOSB	HGNC	protein_coding	OTTHUMT00000459561.1	82	0.00	0	C	NM_006732		45974093	45974093	+1	no_errors	ENST00000353609	ensembl	human	known	69_37n	silent	47	18.97	11	SNP	1.000	T
FOXM1	2305	genome.wustl.edu	37	12	2968234	2968234	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:2968234G>A	ENST00000359843.3	-	9	1930	c.1862C>T	c.(1861-1863)cCt>cTt	p.P621L	FOXM1_ENST00000342628.2_Missense_Mutation_p.P659L|AC005841.1_ENST00000382678.3_5'Flank|FOXM1_ENST00000361953.3_Missense_Mutation_p.P606L|Y_RNA_ENST00000410561.1_RNA|ITFG2_ENST00000545509.1_Intron	NM_021953.3	NP_068772.2	Q08050	FOXM1_HUMAN	forkhead box M1	621					cell cycle (GO:0007049)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|liver development (GO:0001889)|mitotic cell cycle (GO:0000278)|negative regulation of cell aging (GO:0090344)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of cell cycle arrest (GO:0071156)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of Ras protein signal transduction (GO:0046578)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CCAGGATTCAGGGGTTCTGGG	0.592																																						dbGAP											0													56.0	66.0	63.0					12																	2968234		2200	4300	6500	-	-	-	SO:0001583	missense	0			Y12773	CCDS8515.1, CCDS8516.1, CCDS8517.1	12p13	2007-09-18			ENSG00000111206	ENSG00000111206		"""Forkhead boxes"""	3818	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 2"""	602341		FKHL16		9032290, 9441747	Standard	NM_202002		Approved	HFH-11, trident, HNF-3, INS-1, MPP2, MPHOSPH2, TGT3	uc001qlf.3	Q08050	OTTHUMG00000168118	ENST00000359843.3:c.1862C>T	12.37:g.2968234G>A	ENSP00000352901:p.Pro621Leu		O43258|O43259|O43260|Q4ZGG7|Q9BRL2	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P659L	ENST00000359843.3	37	c.1976	CCDS8515.1	12	.	.	.	.	.	.	.	.	.	.	G	12.99	2.102315	0.37145	.	.	ENSG00000111206	ENST00000342628;ENST00000361953;ENST00000359843	D;D;D	0.93019	-3.14;-3.15;-3.07	4.6	3.71	0.42584	.	0.184142	0.47455	D	0.000223	D	0.93900	0.8048	L	0.46741	1.465	0.09310	N	0.999991	D;D;D;D;D	0.89917	0.97;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.776;1.0;0.994;1.0;0.999	D	0.86271	0.1661	10	0.33141	T	0.24	.	8.3989	0.32574	0.1983:0.0:0.8017:0.0	.	605;621;606;621;659	A8K591;Q53Y49;Q08050-2;Q08050;Q08050-3	.;.;.;FOXM1_HUMAN;.	L	659;606;621	ENSP00000342307:P659L;ENSP00000354492:P606L;ENSP00000352901:P621L	ENSP00000342307:P659L	P	-	2	0	FOXM1	2838495	0.812000	0.29077	0.028000	0.17463	0.888000	0.51559	1.759000	0.38420	1.296000	0.44742	0.561000	0.74099	CCT	FOXM1	-	NULL	ENSG00000111206		0.592	FOXM1-002	KNOWN	basic|CCDS	protein_coding	FOXM1	HGNC	protein_coding	OTTHUMT00000398272.1	44	0.00	0	G	NM_021953		2968234	2968234	-1	no_errors	ENST00000342628	ensembl	human	known	69_37n	missense	94	22.95	28	SNP	0.110	A
FPGS	2356	genome.wustl.edu	37	9	130575648	130575648	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:130575648G>A	ENST00000373247.2	+	15	1579	c.1529G>A	c.(1528-1530)tGc>tAc	p.C510Y	RP11-228B15.4_ENST00000439298.1_RNA|FPGS_ENST00000373225.3_Missense_Mutation_p.C460Y|FPGS_ENST00000393706.2_Missense_Mutation_p.C484Y|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_3'UTR	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	510					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)	CCCCACACCTGCAGTGCCAGC	0.657																																						dbGAP											0													67.0	64.0	65.0					9																	130575648		2203	4300	6503	-	-	-	SO:0001583	missense	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.1529G>A	9.37:g.130575648G>A	ENSP00000362344:p.Cys510Tyr		B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	superfamily_Mur_ligase_cen,superfamily_Mur_ligase_C,tigrfam_Folylpolyglutamate_synth	p.C510Y	ENST00000373247.2	37	c.1529	CCDS35148.1	9	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.145023	0.00332	.	.	ENSG00000136877	ENST00000373247;ENST00000393706;ENST00000373225	T;T;T	0.13538	2.99;2.99;2.58	4.94	-2.62	0.06152	Mur ligase, C-terminal (1);	1.347520	0.04533	N	0.386745	T	0.07503	0.0189	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.19583	0.024;0.037	B;B	0.21917	0.037;0.013	T	0.38757	-0.9646	10	0.59425	D	0.04	-0.0069	1.7372	0.02944	0.1495:0.1099:0.265:0.4756	.	484;510	Q05932-4;Q05932	.;FOLC_HUMAN	Y	510;484;460	ENSP00000362344:C510Y;ENSP00000377309:C484Y;ENSP00000362322:C460Y	ENSP00000362322:C460Y	C	+	2	0	FPGS	129615469	0.000000	0.05858	0.001000	0.08648	0.147000	0.21601	0.213000	0.17521	-0.252000	0.09528	0.484000	0.47621	TGC	FPGS	-	tigrfam_Folylpolyglutamate_synth	ENSG00000136877		0.657	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGS	HGNC	protein_coding	OTTHUMT00000054251.1	42	0.00	0	G			130575648	130575648	+1	no_errors	ENST00000373247	ensembl	human	known	69_37n	missense	22	18.52	5	SNP	0.000	A
FRAS1	80144	genome.wustl.edu	37	4	79462128	79462128	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:79462128G>A	ENST00000264895.6	+	74	12329	c.11889G>A	c.(11887-11889)gaG>gaA	p.E3963E		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3959					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						ACCGGGTGGAGAAGAACGTGA	0.507																																						dbGAP											0													79.0	81.0	81.0					4																	79462128		1913	4128	6041	-	-	-	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	ENST00000264895.6:c.11889G>A	4.37:g.79462128G>A			A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.E2192K	ENST00000264895.6	37	c.6574	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	G	0.299	-0.974885	0.02215	.	.	ENSG00000138759	ENST00000512123	T	0.56103	0.48	6.08	5.23	0.72850	.	0.054089	0.64402	D	0.000001	T	0.63200	0.2491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64287	-0.6443	7	0.62326	D	0.03	.	11.0679	0.47987	0.1439:0.0:0.8561:0.0	.	.	.	.	K	2192	ENSP00000422834:E2192K	ENSP00000422834:E2192K	E	+	1	0	FRAS1	79681152	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	2.672000	0.46850	2.894000	0.99253	0.591000	0.81541	GAA	FRAS1	-	NULL	ENSG00000138759		0.507	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		112	0.00	0	G			79462128	79462128	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000512123	ensembl	human	novel	69_37n	missense	106	10.08	12	SNP	1.000	A
FREM2	341640	genome.wustl.edu	37	13	39262743	39262743	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:39262743C>T	ENST00000280481.7	+	1	1478	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	421					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAGGAGCAGCTTCAGACCCT	0.532																																						dbGAP											0													75.0	84.0	81.0					13																	39262743		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1262C>T	13.37:g.39262743C>T	ENSP00000280481:p.Ala421Val		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.A421V	ENST00000280481.7	37	c.1262	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	C	6.290	0.421680	0.11928	.	.	ENSG00000150893	ENST00000280481	T	0.19250	2.16	5.94	5.94	0.96194	.	0.184869	0.49916	D	0.000132	T	0.15955	0.0384	L	0.27053	0.805	0.41670	D	0.989239	B	0.16396	0.017	B	0.11329	0.006	T	0.06534	-1.0821	10	0.27785	T	0.31	.	13.5478	0.61715	0.0:0.9292:0.0:0.0708	.	421	Q5SZK8	FREM2_HUMAN	V	421	ENSP00000280481:A421V	ENSP00000280481:A421V	A	+	2	0	FREM2	38160743	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.544000	0.60691	2.826000	0.97356	0.561000	0.74099	GCT	FREM2	-	NULL	ENSG00000150893		0.532	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	70	0.00	0	C	NM_207361		39262743	39262743	+1	no_errors	ENST00000280481	ensembl	human	known	69_37n	missense	41	16.33	8	SNP	1.000	T
FREM2	341640	genome.wustl.edu	37	13	39263887	39263887	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:39263887C>T	ENST00000280481.7	+	1	2622	c.2406C>T	c.(2404-2406)ttC>ttT	p.F802F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	802					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGCCCAGTTCCAGTTCCAGG	0.547																																						dbGAP											0													67.0	70.0	69.0					13																	39263887		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2406C>T	13.37:g.39263887C>T			Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.F802	ENST00000280481.7	37	c.2406	CCDS31960.1	13																																																																																			FREM2	-	NULL	ENSG00000150893		0.547	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	78	0.00	0	C	NM_207361		39263887	39263887	+1	no_errors	ENST00000280481	ensembl	human	known	69_37n	silent	35	18.60	8	SNP	0.896	T
FRMD3	257019	genome.wustl.edu	37	9	85958184	85958184	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:85958184C>T	ENST00000304195.3	-	5	599	c.393G>A	c.(391-393)caG>caA	p.Q131Q	FRMD3_ENST00000376438.1_Silent_p.Q131Q	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	131	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CCCTTTTAATCTGAAGGTATA	0.448																																						dbGAP											0													82.0	85.0	84.0					9																	85958184		1975	4161	6136	-	-	-	SO:0001819	synonymous_variant	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.393G>A	9.37:g.85958184C>T			A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	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.Q131	ENST00000304195.3	37	c.393	CCDS43840.1	9																																																																																			FRMD3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	ENSG00000172159		0.448	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	103	0.00	0	C	NM_174938		85958184	85958184	-1	no_errors	ENST00000304195	ensembl	human	known	69_37n	silent	75	25.74	26	SNP	1.000	T
FYCO1	79443	genome.wustl.edu	37	3	46008714	46008714	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:46008714G>A	ENST00000296137.2	-	8	2317	c.2112C>T	c.(2110-2112)agC>agT	p.S704S	FYCO1_ENST00000535325.1_Silent_p.S704S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	704					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CGCCCTCCTTGCTCTGTAGAA	0.617																																						dbGAP											0													105.0	111.0	109.0					3																	46008714		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2112C>T	3.37:g.46008714G>A			B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.S704	ENST00000296137.2	37	c.2112	CCDS2734.1	3																																																																																			FYCO1	-	superfamily_Prefoldin	ENSG00000163820		0.617	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	97	0.00	0	G	NM_024513		46008714	46008714	-1	no_errors	ENST00000535325	ensembl	human	known	69_37n	silent	99	10.00	11	SNP	1.000	A
FZD2	2535	genome.wustl.edu	37	17	42635924	42635924	+	Missense_Mutation	SNP	G	G	A	rs541765661		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:42635924G>A	ENST00000315323.3	+	1	1000	c.868G>A	c.(868-870)Gtg>Atg	p.V290M		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled class receptor 2	290					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cell-cell signaling (GO:0007267)|cochlea morphogenesis (GO:0090103)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|inner ear receptor cell development (GO:0060119)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|sensory perception of smell (GO:0007608)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTACACCATGGTGTCGGTGGC	0.607																																						dbGAP											0													57.0	57.0	57.0					17																	42635924		2203	4300	6503	-	-	-	SO:0001583	missense	0			L37882	CCDS11484.1	17q21.1	2014-01-29	2014-01-29			ENSG00000180340		"""GPCR / Class F : Frizzled receptors"""	4040	protein-coding gene	gene with protein product		600667	"""frizzled (Drosophila) homolog 2"", ""frizzled homolog 2 (Drosophila)"", ""frizzled 2, seven transmembrane spanning receptor"", ""frizzled family receptor 2"""			7558010, 9813155	Standard	NM_001466		Approved		uc002igx.2	Q14332		ENST00000315323.3:c.868G>A	17.37:g.42635924G>A	ENSP00000323901:p.Val290Met		Q0VG82	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,prints_Frizzled,pfscan_Frizzled_dom,pfscan_GPCR_2-like	p.V290M	ENST00000315323.3	37	c.868	CCDS11484.1	17	.	.	.	.	.	.	.	.	.	.	g	21.6	4.170699	0.78452	.	.	ENSG00000180340	ENST00000541149;ENST00000315323	D	0.83755	-1.76	4.61	4.61	0.57282	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.93575	0.7949	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95580	0.8645	10	0.87932	D	0	.	17.0554	0.86532	0.0:0.0:1.0:0.0	.	290	Q14332	FZD2_HUMAN	M	366;290	ENSP00000323901:V290M	ENSP00000323901:V290M	V	+	1	0	FZD2	39991450	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.993000	0.88291	2.080000	0.62538	0.561000	0.74099	GTG	FZD2	-	pfam_Frizzled,prints_Frizzled,pfscan_GPCR_2-like	ENSG00000180340		0.607	FZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD2	HGNC	protein_coding	OTTHUMT00000457806.1	33	0.00	0	G	NM_001466		42635924	42635924	+1	no_errors	ENST00000315323	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	1.000	A
G3BP1	10146	genome.wustl.edu	37	5	151183642	151183642	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:151183642C>T	ENST00000394123.3	+	12	1536	c.1391C>T	c.(1390-1392)cCa>cTa	p.P464L	G3BP1_ENST00000543466.1_Missense_Mutation_p.P282L|G3BP1_ENST00000356245.3_Missense_Mutation_p.P464L			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	464					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)			GGGCTTGCGCCACGGCAGTGA	0.562																																						dbGAP											0													66.0	68.0	67.0					5																	151183642		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.1391C>T	5.37:g.151183642C>T	ENSP00000377681:p.Pro464Leu		Q5HYE9	Missense_Mutation	SNP	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.P464L	ENST00000394123.3	37	c.1391	CCDS4319.1	5	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262695	0.39995	.	.	ENSG00000145907	ENST00000394123;ENST00000543466;ENST00000356245;ENST00000274596	T;T;T	0.79749	-1.05;-1.3;-1.05	5.36	4.37	0.52481	.	0.105194	0.64402	D	0.000003	T	0.71600	0.3359	L	0.34521	1.04	0.80722	D	1	B	0.26635	0.155	B	0.24155	0.051	T	0.72663	-0.4225	10	0.87932	D	0	0.0031	13.1948	0.59732	0.2367:0.7633:0.0:0.0	.	464	Q13283	G3BP1_HUMAN	L	464;282;464;306	ENSP00000377681:P464L;ENSP00000445035:P282L;ENSP00000348578:P464L	ENSP00000274596:P306L	P	+	2	0	G3BP1	151163835	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.068000	0.50018	2.666000	0.90696	0.655000	0.94253	CCA	G3BP1	-	NULL	ENSG00000145907		0.562	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G3BP1	HGNC	protein_coding	OTTHUMT00000252431.1	91	0.00	0	C	NM_005754		151183642	151183642	+1	no_errors	ENST00000356245	ensembl	human	known	69_37n	missense	96	14.29	16	SNP	1.000	T
GABPB2	126626	genome.wustl.edu	37	1	151060733	151060733	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:151060733G>A	ENST00000368918.3	+	2	399	c.68G>A	c.(67-69)aGa>aAa	p.R23K	GABPB2_ENST00000368917.1_Missense_Mutation_p.R23K|GABPB2_ENST00000368916.1_Missense_Mutation_p.R23K	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	23					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GATGAAGTGAGAACGTTGATG	0.423																																						dbGAP											0													107.0	93.0	98.0					1																	151060733		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.68G>A	1.37:g.151060733G>A	ENSP00000357914:p.Arg23Lys		B1AVJ8|D3DV14|Q8NAR5	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.R23K	ENST00000368918.3	37	c.68	CCDS983.1	1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634192	0.87660	.	.	ENSG00000143458	ENST00000368918;ENST00000368917;ENST00000446567;ENST00000368916	T;T;T	0.39997	1.05;1.05;1.05	5.41	5.41	0.78517	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.25494	0.0620	N	0.17278	0.47	0.51012	D	0.999901	P;B;P	0.49559	0.852;0.005;0.925	P;B;P	0.47015	0.534;0.039;0.484	T	0.02365	-1.1170	10	0.41790	T	0.15	-10.3165	17.9805	0.89139	0.0:0.0:1.0:0.0	.	23;23;23	B4DXA3;B2R924;Q8TAK5	.;.;GABP2_HUMAN	K	23	ENSP00000357914:R23K;ENSP00000357913:R23K;ENSP00000357912:R23K	ENSP00000357912:R23K	R	+	2	0	GABPB2	149327357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.403000	0.97302	2.823000	0.97156	0.650000	0.86243	AGA	GABPB2	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000143458		0.423	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABPB2	HGNC	protein_coding	OTTHUMT00000033700.2	46	0.00	0	G	NM_144618		151060733	151060733	+1	no_errors	ENST00000368918	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	1.000	A
GALNT5	11227	genome.wustl.edu	37	2	158140917	158140917	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:158140917C>T	ENST00000259056.4	+	2	2063	c.1578C>T	c.(1576-1578)caC>caT	p.H526H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	526	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|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)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTCCTCCACACCTCATCAAGG	0.453																																						dbGAP											0													191.0	154.0	167.0					2																	158140917		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1578C>T	2.37:g.158140917C>T			A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.H526	ENST00000259056.4	37	c.1578	CCDS2203.1	2																																																																																			GALNT5	-	pfam_Glyco_trans_2	ENSG00000136542		0.453	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	125	0.00	0	C	NM_014568		158140917	158140917	+1	no_errors	ENST00000259056	ensembl	human	known	69_37n	silent	61	11.59	8	SNP	0.996	T
GATA3	2625	genome.wustl.edu	37	10	8106022	8106022	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:8106022A>G	ENST00000346208.3	+	4	1297	c.842A>G	c.(841-843)cAc>cGc	p.H281R	GATA3_ENST00000461472.1_Intron|GATA3_ENST00000379328.3_Missense_Mutation_p.H282R			P23771	GATA3_HUMAN	GATA binding protein 3	281					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|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)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GGCACGGGACACTACCTGTGC	0.567			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													143.0	112.0	123.0					10																	8106022		2203	4300	6503	-	-	-	SO:0001583	missense	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.842A>G	10.37:g.8106022A>G	ENSP00000341619:p.His281Arg		Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.H282R	ENST00000346208.3	37	c.845	CCDS7083.1	10	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011429	0.75046	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.99503	-6.03;-6.03	5.59	5.59	0.84812	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (5);	0.000000	0.85682	D	0.000000	D	0.99010	0.9662	N	0.25426	0.745	0.80722	D	1	D;P	0.89917	1.0;0.918	D;P	0.85130	0.997;0.882	D	0.99924	1.1274	10	0.87932	D	0	-26.8428	15.7811	0.78260	1.0:0.0:0.0:0.0	.	281;282	P23771;P23771-2	GATA3_HUMAN;.	R	282;281	ENSP00000368632:H282R;ENSP00000341619:H281R	ENSP00000341619:H281R	H	+	2	0	GATA3	8146028	1.000000	0.71417	0.991000	0.47740	0.285000	0.27093	9.339000	0.96797	2.123000	0.65237	0.533000	0.62120	CAC	GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	ENSG00000107485		0.567	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	67	0.00	0	A	NM_001002295		8106022	8106022	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	missense	89	25.41	31	SNP	1.000	G
GCN1L1	10985	genome.wustl.edu	37	12	120593461	120593461	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:120593461G>A	ENST00000300648.6	-	29	3387	c.3375C>T	c.(3373-3375)aaC>aaT	p.N1125N	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1125					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCGCAGAAGGTTCAGGCCAT	0.552																																						dbGAP											0													137.0	144.0	142.0					12																	120593461		1995	4158	6153	-	-	-	SO:0001819	synonymous_variant	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3375C>T	12.37:g.120593461G>A			A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.N1125	ENST00000300648.6	37	c.3375	CCDS41847.1	12																																																																																			GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.552	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	112	0.00	0	G			120593461	120593461	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	silent	91	40.26	62	SNP	0.997	A
GCN1L1	10985	genome.wustl.edu	37	12	120593490	120593490	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:120593490G>A	ENST00000300648.6	-	29	3358	c.3346C>T	c.(3346-3348)Cct>Tct	p.P1116S	MIR4498_ENST00000577599.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1116					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAGTATCAGGTGCTGGCAAT	0.547																																						dbGAP											0													133.0	139.0	137.0					12																	120593490		1993	4157	6150	-	-	-	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.3346C>T	12.37:g.120593490G>A	ENSP00000300648:p.Pro1116Ser		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.P1116S	ENST00000300648.6	37	c.3346	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488815	0.44249	.	.	ENSG00000089154	ENST00000300648	T	0.35421	1.31	5.8	5.8	0.92144	Armadillo-like helical (1);Armadillo-type fold (1);	0.078950	0.53938	D	0.000049	T	0.29850	0.0746	L	0.34521	1.04	0.58432	D	0.999995	B	0.14012	0.009	B	0.12156	0.007	T	0.15235	-1.0444	10	0.08179	T	0.78	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	1116	Q92616	GCN1L_HUMAN	S	1116	ENSP00000300648:P1116S	ENSP00000300648:P1116S	P	-	1	0	GCN1L1	119077873	1.000000	0.71417	0.921000	0.36526	0.996000	0.88848	6.612000	0.74187	2.735000	0.93741	0.655000	0.94253	CCT	GCN1L1	-	superfamily_ARM-type_fold	ENSG00000089154		0.547	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	106	0.00	0	G			120593490	120593490	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	missense	92	40.65	63	SNP	0.999	A
GCN1L1	10985	genome.wustl.edu	37	12	120611892	120611892	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:120611892G>A	ENST00000300648.6	-	13	1187	c.1175C>T	c.(1174-1176)cCg>cTg	p.P392L	AC004812.1_ENST00000582675.1_RNA	NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	392					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGAAGGAACGGGATGAACAG	0.507																																						dbGAP											0													109.0	111.0	110.0					12																	120611892		2134	4237	6371	-	-	-	SO:0001583	missense	0			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1175C>T	12.37:g.120611892G>A	ENSP00000300648:p.Pro392Leu		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.P392L	ENST00000300648.6	37	c.1175	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171415	0.57584	.	.	ENSG00000089154	ENST00000300648	T	0.04603	3.59	4.88	4.88	0.63580	Armadillo-like helical (1);Domain of unknown function DUF3554 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	M	0.70595	2.14	0.80722	D	1	B	0.32543	0.375	B	0.22386	0.039	T	0.09862	-1.0655	10	0.44086	T	0.13	0.2264	18.0267	0.89271	0.0:0.0:1.0:0.0	.	392	Q92616	GCN1L_HUMAN	L	392	ENSP00000300648:P392L	ENSP00000300648:P392L	P	-	2	0	GCN1L1	119096275	1.000000	0.71417	0.925000	0.36789	0.891000	0.51852	9.174000	0.94824	2.242000	0.73789	0.563000	0.77884	CCG	GCN1L1	-	pfam_DUF3554,superfamily_ARM-type_fold	ENSG00000089154		0.507	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	HGNC	protein_coding	OTTHUMT00000403592.1	50	0.00	0	G			120611892	120611892	-1	no_errors	ENST00000300648	ensembl	human	known	69_37n	missense	68	18.07	15	SNP	0.999	A
GDF5OS	554250	genome.wustl.edu	37	20	34022528	34022528	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:34022528G>A	ENST00000374375.1	+	2	1014	c.572G>A	c.(571-573)aGg>aAg	p.R191K	GDF5_ENST00000374369.3_Silent_p.L229L|GDF5_ENST00000374372.1_Silent_p.L229L			Q5U4N7	GDF5O_HUMAN	growth differentiation factor 5 opposite strand	191						mitochondrion (GO:0005739)				cervix(1)|endometrium(4)|lung(4)	9						TCCTTCTCCAGGGCACTAATG	0.637																																						dbGAP											0													97.0	103.0	101.0					20																	34022528		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC085019		20q11.2	2013-03-18			ENSG00000204183	ENSG00000204183			33435	other	unknown							Standard			Approved		uc002xcj.3	Q5U4N7	OTTHUMG00000055985	ENST00000374375.1:c.572G>A	20.37:g.34022528G>A	ENSP00000363495:p.Arg191Lys		A6PVI8	Missense_Mutation	SNP	NULL	p.R191K	ENST00000374375.1	37	c.572		20	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461116	0.26248	.	.	ENSG00000204183	ENST00000374375	.	.	.	4.86	2.93	0.34026	.	.	.	.	.	T	0.60818	0.2298	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60414	-0.7268	5	0.87932	D	0	.	5.7677	0.18235	0.4395:0.0:0.5605:0.0	.	.	.	.	K	191	.	ENSP00000363495:R191K	R	+	2	0	GDF5OS	33485942	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	2.531000	0.45650	0.645000	0.30675	0.561000	0.74099	AGG	GDF5OS	-	NULL	ENSG00000204183		0.637	GDF5OS-001	KNOWN	basic|appris_principal	protein_coding	GDF5OS	HGNC	protein_coding	OTTHUMT00000125987.3	92	0.00	0	G			34022528	34022528	+1	no_errors	ENST00000374375	ensembl	human	known	69_37n	missense	54	10.00	6	SNP	0.926	A
GGNBP2	79893	genome.wustl.edu	37	17	34941765	34941765	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:34941765C>T	ENST00000304718.4	+	10	1567	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	417					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GCTGCAAAGCCTGTGGCAGCA	0.398																																						dbGAP											0													97.0	100.0	99.0					17																	34941765		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1251C>T	17.37:g.34941765C>T			B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	NULL	p.A417	ENST00000304718.4	37	c.1251	CCDS11314.1	17																																																																																			GGNBP2	-	NULL	ENSG00000005955		0.398	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGNBP2	HGNC	protein_coding	OTTHUMT00000256684.2	110	0.00	0	C	NM_024835		34941765	34941765	+1	no_errors	ENST00000304718	ensembl	human	known	69_37n	silent	121	12.95	18	SNP	1.000	T
GLB1L2	89944	genome.wustl.edu	37	11	134234287	134234287	+	Missense_Mutation	SNP	G	G	A	rs112886248		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:134234287G>A	ENST00000535456.2	+	8	987	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000389881.3_Missense_Mutation_p.V267I|GLB1L2_ENST00000339772.7_Missense_Mutation_p.V267I	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	267					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCTCTTCAACGTCCAGGTAAG	0.572																																						dbGAP											0													241.0	212.0	222.0					11																	134234287		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.799G>A	11.37:g.134234287G>A	ENSP00000444628:p.Val267Ile		A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.V267I	ENST00000535456.2	37	c.799	CCDS31724.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.071|0.071	-1.202036|-1.202036	0.01581|0.01581	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000525089;ENST00000533324|ENST00000339772;ENST00000535456;ENST00000389881	.|D;D;D	.|0.97924	.|-4.61;-4.61;-4.61	3.97|3.97	-0.153|-0.153	0.13403|0.13403	.|Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	.|0.883361	.|0.09893	.|N	.|0.742062	D|D	0.89698|0.89698	0.6790|0.6790	N|N	0.04805|0.04805	-0.155|-0.155	0.09310|0.09310	N|N	1|1	.|B	.|0.11235	.|0.004	.|B	.|0.09377	.|0.004	T|T	0.82061|0.82061	-0.0644|-0.0644	5|10	.|0.09338	.|T	.|0.73	-16.853|-16.853	3.9372|3.9372	0.09311|0.09311	0.2962:0.0:0.5372:0.1667|0.2962:0.0:0.5372:0.1667	.|.	.|267	.|Q8IW92	.|GLBL2_HUMAN	H|I	205;94|267	.|ENSP00000344659:V267I;ENSP00000444628:V267I;ENSP00000374531:V267I	.|ENSP00000344659:V267I	R|V	+|+	2|1	0|0	GLB1L2|GLB1L2	133739497|133739497	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.024000|0.024000	0.10985|0.10985	-0.404000|-0.404000	0.07205|0.07205	-0.014000|-0.014000	0.14175|0.14175	-0.749000|-0.749000	0.03505|0.03505	CGT|GTC	GLB1L2	-	pfam_Glycoside_Hdrlase_35,superfamily_Glycoside_hydrolase_SF	ENSG00000149328		0.572	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L2	HGNC	protein_coding	OTTHUMT00000393629.2	105	0.00	0	G	NM_138342		134234287	134234287	+1	no_errors	ENST00000339772	ensembl	human	known	69_37n	missense	47	22.95	14	SNP	0.001	A
GLI2	2736	genome.wustl.edu	37	2	121747900	121747900	+	Silent	SNP	G	G	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:121747900G>C	ENST00000452319.1	+	14	4470	c.4410G>C	c.(4408-4410)cgG>cgC	p.R1470R	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.R1470R					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGGTCATGCGGTCCCAGCCAC	0.642																																						dbGAP											0													57.0	61.0	59.0					2																	121747900		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4410G>C	2.37:g.121747900G>C				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R1470	ENST00000452319.1	37	c.4410	CCDS33283.1	2																																																																																			GLI2	-	NULL	ENSG00000074047		0.642	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	58	0.00	0	G	NM_005270		121747900	121747900	+1	no_errors	ENST00000361492	ensembl	human	known	69_37n	silent	13	23.53	4	SNP	0.244	C
GOLIM4	27333	genome.wustl.edu	37	3	167747599	167747599	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:167747599C>T	ENST00000470487.1	-	10	2091	c.1402G>A	c.(1402-1404)Gag>Aag	p.E468K	GOLIM4_ENST00000309027.4_Missense_Mutation_p.E440K	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	468	Gln-rich.|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						GGCCGGCCCTCCTCAAGCTCA	0.592																																						dbGAP											0													33.0	36.0	35.0					3																	167747599		2203	4300	6503	-	-	-	SO:0001583	missense	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.1402G>A	3.37:g.167747599C>T	ENSP00000417354:p.Glu468Lys			Missense_Mutation	SNP	NULL	p.E468K	ENST00000470487.1	37	c.1402	CCDS3204.1	3	.	.	.	.	.	.	.	.	.	.	C	15.42	2.828329	0.50845	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.1	4.22	0.49857	.	0.342576	0.32671	N	0.005786	T	0.51363	0.1670	M	0.63843	1.955	0.23645	N	0.99722	B;B	0.14438	0.01;0.01	B;B	0.17722	0.019;0.019	T	0.45396	-0.9264	9	0.38643	T	0.18	-0.6654	15.2891	0.73852	0.0:0.8591:0.1409:0.0	.	440;468	F8W785;O00461	.;GOLI4_HUMAN	K	468;440	.	ENSP00000309893:E440K	E	-	1	0	GOLIM4	169230293	0.068000	0.21057	0.015000	0.15790	0.025000	0.11179	1.637000	0.37155	1.160000	0.42584	0.555000	0.69702	GAG	GOLIM4	-	NULL	ENSG00000173905		0.592	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLIM4	HGNC	protein_coding	OTTHUMT00000351278.2	64	0.00	0	C			167747599	167747599	-1	no_errors	ENST00000470487	ensembl	human	known	69_37n	missense	73	23.16	22	SNP	0.409	T
GON4L	54856	genome.wustl.edu	37	1	155747443	155747443	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:155747443C>T	ENST00000368331.1	-	15	2109	c.2061G>A	c.(2059-2061)caG>caA	p.Q687Q	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.Q687Q|GON4L_ENST00000271883.5_Silent_p.Q687Q|GON4L_ENST00000361040.5_Silent_p.Q687Q	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	687					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTCTCTTCCTCTGTGCTGGGT	0.453																																						dbGAP											0													161.0	148.0	152.0					1																	155747443		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2061G>A	1.37:g.155747443C>T			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.Q687	ENST00000368331.1	37	c.2061		1																																																																																			GON4L	-	NULL	ENSG00000116580		0.453	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		189	0.00	0	C	NM_032292		155747443	155747443	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	silent	230	11.20	29	SNP	1.000	T
GPBAR1	151306	genome.wustl.edu	37	2	219128275	219128275	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:219128275G>A	ENST00000522678.1	+	2	1696	c.828G>A	c.(826-828)gtG>gtA	p.V276V	GPBAR1_ENST00000521462.1_Silent_p.V276V|GPBAR1_ENST00000519574.1_Silent_p.V276V|GPBAR1_ENST00000479077.1_Silent_p.V276V	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	276					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCGGCAGTGCCCGTAGCCA	0.682																																						dbGAP											0													13.0	15.0	15.0					2																	219128275		1949	4093	6042	-	-	-	SO:0001819	synonymous_variant	0			AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.828G>A	2.37:g.219128275G>A			B3KV35	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.V276	ENST00000522678.1	37	c.828	CCDS46515.1	2																																																																																			GPBAR1	-	pfscan_GPCR_Rhodpsn_supfam	ENSG00000179921		0.682	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPBAR1	HGNC	protein_coding	OTTHUMT00000338767.3	40	0.00	0	G	NM_001077191		219128275	219128275	+1	no_errors	ENST00000479077	ensembl	human	known	69_37n	silent	27	12.90	4	SNP	1.000	A
GPD1	2819	genome.wustl.edu	37	12	50498376	50498376	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:50498376A>C	ENST00000301149.3	+	2	293	c.61A>C	c.(61-63)Atc>Ctc	p.I21L	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.I21L	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	21					cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CATCGCCAAGATCGTGGGTGG	0.587																																					NSCLC(141;1402 1905 9497 13391 44868)	dbGAP											0													75.0	71.0	72.0					12																	50498376		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.61A>C	12.37:g.50498376A>C	ENSP00000301149:p.Ile21Leu		F8W1L5|Q8N1B0	Missense_Mutation	SNP	pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk	p.I21L	ENST00000301149.3	37	c.61	CCDS8799.1	12	.	.	.	.	.	.	.	.	.	.	A	19.99	3.928922	0.73327	.	.	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814	T;T	0.56611	0.45;0.86	5.7	5.7	0.88788	Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal (1);NAD(P)-binding domain (1);	0.095670	0.64402	D	0.000002	T	0.55449	0.1921	L	0.38175	1.15	0.80722	D	1	B;B;B	0.23058	0.077;0.057;0.079	B;B;B	0.41466	0.358;0.065;0.183	T	0.54111	-0.8342	10	0.40728	T	0.16	-7.4355	16.2858	0.82720	1.0:0.0:0.0:0.0	.	21;21;21	B4DJ37;F8W1L5;P21695	.;.;GPDA_HUMAN	L	21	ENSP00000301149:I21L;ENSP00000446768:I21L	ENSP00000301149:I21L	I	+	1	0	GPD1	48784643	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.281000	0.95811	2.313000	0.78055	0.454000	0.30748	ATC	GPD1	-	pfam_G3P_DH_NAD-dep_N,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk	ENSG00000167588		0.587	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD1	HGNC	protein_coding	OTTHUMT00000406018.1	93	0.00	0	A			50498376	50498376	+1	no_errors	ENST00000301149	ensembl	human	known	69_37n	missense	36	35.71	20	SNP	1.000	C
GPD1	2819	genome.wustl.edu	37	12	50498517	50498518	+	Missense_Mutation	DNP	AA	AA	TC			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:50498517_50498518AA>TC	ENST00000301149.3	+	2	434_435	c.202_203AA>TC	c.(202-204)AAg>TCg	p.K68S	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Missense_Mutation_p.K68S	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	68					cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCCAGGGCACAAGTTGCCCCCA	0.545																																					NSCLC(141;1402 1905 9497 13391 44868)	dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	Exception_encountered	12.37:g.50498517_50498518delinsTC	ENSP00000301149:p.Lys68Ser		F8W1L5|Q8N1B0	Nonsense_Mutation|Missense_Mutation	SNP	pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk	p.K68*|p.K68T	ENST00000301149.3	37	c.202|c.203	CCDS8799.1	12																																																																																			GPD1	-	pfam_G3P_DH_NAD-dep_N,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk	ENSG00000167588		0.545	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD1	HGNC	protein_coding	OTTHUMT00000406018.1	77|79	0.00	0	A			50498517|50498518	50498517|50498518	+1	no_errors	ENST00000301149	ensembl	human	known	69_37n	nonsense|missense	34|36	41.67|36.84	25|21	SNP	1.000	T|C
GPR110	266977	genome.wustl.edu	37	6	46968008	46968008	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:46968008C>T	ENST00000371253.2	-	15	2899	c.2684G>A	c.(2683-2685)gGa>gAa	p.G895E	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.G698E	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	895					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						GGAGGAATCTCCAGTATGAGA	0.333																																						dbGAP											0													91.0	91.0	91.0					6																	46968008		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.2684G>A	6.37:g.46968008C>T	ENSP00000360299:p.Gly895Glu		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.G895E	ENST00000371253.2	37	c.2684	CCDS34471.1	6	.	.	.	.	.	.	.	.	.	.	C	9.256	1.041867	0.19748	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.35421	1.32;1.31	5.54	5.54	0.83059	.	0.122449	0.36893	N	0.002343	T	0.34513	0.0900	L	0.59436	1.845	0.09310	N	0.999995	D	0.54047	0.964	P	0.50860	0.652	T	0.18713	-1.0328	10	0.87932	D	0	-0.846	15.3284	0.74186	0.0:1.0:0.0:0.0	.	895	Q5T601	GP110_HUMAN	E	895;698	ENSP00000360299:G895E;ENSP00000283297:G698E	ENSP00000283297:G698E	G	-	2	0	GPR110	47075967	0.046000	0.20272	0.037000	0.18230	0.062000	0.15995	2.028000	0.41088	2.763000	0.94921	0.557000	0.71058	GGA	GPR110	-	NULL	ENSG00000153292		0.333	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	190	0.00	0	C	NM_153840		46968008	46968008	-1	no_errors	ENST00000371253	ensembl	human	known	69_37n	missense	125	10.71	15	SNP	0.194	T
GPR142	350383	genome.wustl.edu	37	17	72363783	72363783	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:72363783C>T	ENST00000335666.4	+	1	187	c.139C>T	c.(139-141)Cat>Tat	p.H47Y		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	47						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GAAAAGCCAGCATTCTTGTCT	0.547																																						dbGAP											0													106.0	87.0	93.0					17																	72363783		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.139C>T	17.37:g.72363783C>T	ENSP00000335158:p.His47Tyr		A4CYJ8|Q86SL3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.H47Y	ENST00000335666.4	37	c.139	CCDS11698.1	17	.	.	.	.	.	.	.	.	.	.	C	9.877	1.200620	0.22121	.	.	ENSG00000257008	ENST00000335666	T	0.70516	-0.49	2.54	-2.55	0.06288	.	.	.	.	.	T	0.41811	0.1175	N	0.08118	0	0.24428	N	0.994586	P	0.36144	0.539	B	0.25614	0.062	T	0.23476	-1.0187	9	0.87932	D	0	.	7.1914	0.25828	0.0:0.5167:0.0:0.4833	.	47	Q7Z601	GP142_HUMAN	Y	47	ENSP00000335158:H47Y	ENSP00000335158:H47Y	H	+	1	0	GPR142	69875378	0.996000	0.38824	0.000000	0.03702	0.000000	0.00434	0.254000	0.18314	-0.736000	0.04831	-0.780000	0.03373	CAT	GPR142	-	NULL	ENSG00000257008		0.547	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	45	0.00	0	C	NM_181790		72363783	72363783	+1	no_errors	ENST00000335666	ensembl	human	known	69_37n	missense	48	11.11	6	SNP	0.999	T
GPR56	9289	genome.wustl.edu	37	16	57685109	57685109	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:57685109C>T	ENST00000388812.4	+	3	504				GPR56_ENST00000564912.1_Intron|GPR56_ENST00000540164.2_Intron|GPR56_ENST00000379696.3_Intron|GPR56_ENST00000544297.1_Intron|GPR56_ENST00000388813.5_Intron|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000562631.1_Intron|GPR56_ENST00000567835.1_Intron|GPR56_ENST00000562558.1_Intron|GPR56_ENST00000456916.1_Intron|GPR56_ENST00000568909.1_Intron|GPR56_ENST00000568908.1_Intron|GPR56_ENST00000538815.1_Intron			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56						angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TCTGCCTCCTCAGGTGCCCAC	0.627																																						dbGAP											0													55.0	62.0	60.0					16																	57685109		2198	4300	6498	-	-	-	SO:0001627	intron_variant	0			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.65-3C>T	16.37:g.57685109C>T			A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Nonsense_Mutation	SNP	NULL	p.Q35*	ENST00000388812.4	37	c.103	CCDS32460.1	16																																																																																			GPR56	-	NULL	ENSG00000205336		0.627	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3	43	0.00	0	C			57685109	57685109	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000569154	ensembl	human	novel	69_37n	nonsense	30	16.67	6	SNP	0.996	T
GPR56	9289	genome.wustl.edu	37	16	57695732	57695732	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:57695732C>T	ENST00000388812.4	+	13	2246	c.1806C>T	c.(1804-1806)caC>caT	p.H602H	GPR56_ENST00000540164.2_Silent_p.H596H|GPR56_ENST00000379696.3_Silent_p.H602H|GPR56_ENST00000544297.1_Silent_p.H421H|GPR56_ENST00000388813.5_Silent_p.H596H|GPR56_ENST00000379694.4_Silent_p.H432H|GPR56_ENST00000562631.1_Silent_p.H596H|GPR56_ENST00000567835.1_Silent_p.H602H|GPR56_ENST00000562558.1_Silent_p.H596H|GPR56_ENST00000456916.1_Silent_p.H602H|GPR56_ENST00000568909.1_Silent_p.H602H|GPR56_ENST00000568908.1_Silent_p.H596H|GPR56_ENST00000538815.1_Silent_p.H596H			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	602					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TGCGCCCCCACACCCAAAAGT	0.587																																						dbGAP											0													143.0	122.0	129.0					16																	57695732		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.1806C>T	16.37:g.57695732C>T			A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_orphan_rcpt_GPR56,prints_GPCR_2_secretin-like	p.H602	ENST00000388812.4	37	c.1806	CCDS32460.1	16																																																																																			GPR56	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000205336		0.587	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR56	HGNC	protein_coding	OTTHUMT00000433436.3	52	0.00	0	C			57695732	57695732	+1	no_errors	ENST00000379696	ensembl	human	known	69_37n	silent	27	20.59	7	SNP	0.147	T
GPRASP1	9737	genome.wustl.edu	37	X	101910197	101910197	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:101910197C>T	ENST00000361600.5	+	5	2157	c.1356C>T	c.(1354-1356)agC>agT	p.S452S	GPRASP1_ENST00000444152.1_Silent_p.S452S|GPRASP1_ENST00000415986.1_Silent_p.S452S|GPRASP1_ENST00000537097.1_Silent_p.S452S|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	452					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTGGGGCTAGCAGTAAATCCA	0.507																																						dbGAP											0													115.0	103.0	107.0					X																	101910197		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.1356C>T	X.37:g.101910197C>T			O43168|Q96LA1	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S452	ENST00000361600.5	37	c.1356	CCDS35352.1	X																																																																																			GPRASP1	-	NULL	ENSG00000198932		0.507	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	215	0.00	0	C	NM_014710		101910197	101910197	+1	no_errors	ENST00000361600	ensembl	human	known	69_37n	silent	183	15.21	33	SNP	0.000	T
GPRASP2	114928	genome.wustl.edu	37	X	101972188	101972188	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:101972188C>T	ENST00000535209.1	+	4	3222	c.2391C>T	c.(2389-2391)tcC>tcT	p.S797S	GPRASP2_ENST00000332262.5_Silent_p.S797S|GPRASP2_ENST00000543253.1_Silent_p.S797S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	797						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAAAGATGTCCTTAATTGATG	0.318																																						dbGAP											0													116.0	125.0	122.0					X																	101972188		2202	4295	6497	-	-	-	SO:0001819	synonymous_variant	0			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.2391C>T	X.37:g.101972188C>T			D3DXA0|Q8NAB4	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.S797	ENST00000535209.1	37	c.2391	CCDS14501.1	X																																																																																			GPRASP2	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	ENSG00000158301		0.318	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	408	0.00	0	C	NM_138437		101972188	101972188	+1	no_errors	ENST00000332262	ensembl	human	known	69_37n	silent	316	11.73	42	SNP	0.091	T
GRAMD4	23151	genome.wustl.edu	37	22	47062724	47062724	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:47062724G>A	ENST00000406902.1	+	10	1025	c.812G>A	c.(811-813)gGg>gAg	p.G271E	GRAMD4_ENST00000361034.3_Missense_Mutation_p.G271E			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	271					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TTCGCCAGGGGGTGGCGGATA	0.627																																						dbGAP											0													230.0	200.0	210.0					22																	47062724		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.812G>A	22.37:g.47062724G>A	ENSP00000385689:p.Gly271Glu		A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.G271E	ENST00000406902.1	37	c.812	CCDS33672.1	22	.	.	.	.	.	.	.	.	.	.	g	24.9	4.579634	0.86645	.	.	ENSG00000075240	ENST00000406902;ENST00000361034	T;T	0.41065	1.01;1.01	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.58963	0.2159	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.60439	-0.7263	10	0.56958	D	0.05	-39.7044	15.772	0.78176	0.0:0.0:1.0:0.0	.	93;271	B0QZ08;Q6IC98	.;GRAM4_HUMAN	E	271	ENSP00000385689:G271E;ENSP00000354313:G271E	ENSP00000354313:G271E	G	+	2	0	GRAMD4	45441388	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	8.915000	0.92740	2.386000	0.81285	0.555000	0.69702	GGG	GRAMD4	-	NULL	ENSG00000075240		0.627	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	23	0.00	0	G	NM_015124		47062724	47062724	+1	no_errors	ENST00000361034	ensembl	human	known	69_37n	missense	6	50.00	6	SNP	1.000	A
GRID1	2894	genome.wustl.edu	37	10	87482773	87482773	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:87482773C>T	ENST00000327946.7	-	12	2069	c.1984G>A	c.(1984-1986)Gac>Aac	p.D662N	GRID1_ENST00000536331.1_Missense_Mutation_p.D233N	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	662					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						ATGGGGTTGTCCATCCTGGAC	0.537										Multiple Myeloma(13;0.14)																												dbGAP											0													92.0	72.0	79.0					10																	87482773		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1984G>A	10.37:g.87482773C>T	ENSP00000330148:p.Asp662Asn		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D662N	ENST00000327946.7	37	c.1984	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.468030	0.96257	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.52295	0.67;0.67	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.080023	0.85682	D	0.000000	T	0.64994	0.2649	M	0.64404	1.975	0.80722	D	1	D	0.56746	0.977	P	0.59703	0.862	T	0.63363	-0.6654	10	0.54805	T	0.06	.	19.3865	0.94557	0.0:1.0:0.0:0.0	.	662	Q9ULK0	GRID1_HUMAN	N	662;233	ENSP00000330148:D662N;ENSP00000444455:D233N	ENSP00000330148:D662N	D	-	1	0	GRID1	87472753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.663000	0.83820	2.825000	0.97269	0.655000	0.94253	GAC	GRID1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000182771		0.537	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	53	0.00	0	C	XM_043613		87482773	87482773	-1	no_errors	ENST00000327946	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	1.000	T
GRID1	2894	genome.wustl.edu	37	10	87484362	87484362	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:87484362C>T	ENST00000327946.7	-	11	1690	c.1605G>A	c.(1603-1605)cgG>cgA	p.R535R	GRID1_ENST00000536331.1_Silent_p.R106R	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	535					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AGTCCATGTACCGCTTGCTGA	0.502										Multiple Myeloma(13;0.14)																												dbGAP											0													79.0	74.0	76.0					10																	87484362		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1605G>A	10.37:g.87484362C>T			B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R535	ENST00000327946.7	37	c.1605	CCDS31236.1	10																																																																																			GRID1	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000182771		0.502	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	112	0.00	0	C	XM_043613		87484362	87484362	-1	no_errors	ENST00000327946	ensembl	human	known	69_37n	silent	69	16.87	14	SNP	0.978	T
GRK1	6011	genome.wustl.edu	37	13	114322008	114322008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:114322008C>T	ENST00000335678.6	+	1	539	c.307C>T	c.(307-309)Cag>Tag	p.Q103*		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	103	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CAATGACCTCCAGCCACAGAA	0.567																																						dbGAP											0													50.0	56.0	54.0					13																	114322008		2036	4181	6217	-	-	-	SO:0001587	stop_gained	0					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.307C>T	13.37:g.114322008C>T	ENSP00000334876:p.Gln103*		Q53X14	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom	p.Q103*	ENST00000335678.6	37	c.307		13	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763946	0.89932	.	.	ENSG00000185974	ENST00000335678	.	.	.	5.25	3.51	0.40186	.	0.112476	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-33.7928	8.3096	0.32062	0.155:0.762:0.0:0.0829	.	.	.	.	X	103	.	ENSP00000334876:Q103X	Q	+	1	0	GRK1	113370009	0.873000	0.30073	0.592000	0.28758	0.099000	0.18886	1.562000	0.36353	0.579000	0.29504	0.561000	0.74099	CAG	GRK1	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000185974		0.567	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	HGNC	protein_coding	OTTHUMT00000470655.1	29	0.00	0	C	NM_002929		114322008	114322008	+1	no_errors	ENST00000335678	ensembl	human	known	69_37n	nonsense	22	29.03	9	SNP	0.928	T
GRK4	2868	genome.wustl.edu	37	4	3021499	3021499	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:3021499C>T	ENST00000398052.4	+	9	1216	c.873C>T	c.(871-873)ttC>ttT	p.F291F	GRK4_ENST00000504933.1_Silent_p.F291F|GRK4_ENST00000398051.4_Silent_p.F259F|GRK4_ENST00000345167.6_Silent_p.F259F	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	291	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGCCGTTTTCTATGCTGCAG	0.473																																						dbGAP											0													146.0	140.0	142.0					4																	3021499		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.873C>T	4.37:g.3021499C>T			O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.F291	ENST00000398052.4	37	c.873	CCDS33946.1	4																																																																																			GRK4	-	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	ENSG00000125388		0.473	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK4	HGNC	protein_coding	OTTHUMT00000358176.2	116	0.00	0	C	NM_005307		3021499	3021499	+1	no_errors	ENST00000398052	ensembl	human	known	69_37n	silent	130	12.75	19	SNP	1.000	T
GRM4	2914	genome.wustl.edu	37	6	34003681	34003681	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:34003681C>T	ENST00000538487.2	-	9	2649	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000609222.1_Missense_Mutation_p.D603N|GRM4_ENST00000535756.1_Missense_Mutation_p.D603N|GRM4_ENST00000374177.3_Missense_Mutation_p.D620N|GRM4_ENST00000455714.2_Missense_Mutation_p.D596N|GRM4_ENST00000374181.4_Missense_Mutation_p.D736N|GRM4_ENST00000544773.2_Missense_Mutation_p.D567N	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	736					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AAGCGGGGGTCGAGTGTCCGC	0.622																																						dbGAP											0													86.0	81.0	82.0					6																	34003681		2203	4300	6503	-	-	-	SO:0001583	missense	0			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2206G>A	6.37:g.34003681C>T	ENSP00000440556:p.Asp736Asn		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	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_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B	p.D736N	ENST00000538487.2	37	c.2206	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	C	4.434	0.080385	0.08533	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88818	-2.43;-2.43;-2.18;-2.23;-2.25;-2.43;-2.27	4.47	4.47	0.54385	GPCR, family 3, C-terminal (2);	0.049961	0.85682	D	0.000000	T	0.60907	0.2305	N	0.08118	0	0.45097	D	0.998115	B;B;B;B;B	0.20780	0.012;0.011;0.048;0.029;0.02	B;B;B;B;B	0.18263	0.021;0.01;0.006;0.005;0.014	T	0.60535	-0.7244	10	0.17369	T	0.5	.	7.9937	0.30256	0.0:0.8126:0.0:0.1874	.	689;567;596;736;603	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	N	736;620;428;603;567;736;596	ENSP00000363296:D736N;ENSP00000363292:D620N;ENSP00000445533:D428N;ENSP00000437925:D603N;ENSP00000437730:D567N;ENSP00000440556:D736N;ENSP00000398456:D596N	ENSP00000363292:D620N	D	-	1	0	GRM4	34111659	0.994000	0.37717	0.957000	0.39632	0.781000	0.44180	2.723000	0.47277	2.303000	0.77524	0.455000	0.32223	GAC	GRM4	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_4	ENSG00000124493		0.622	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	46	0.00	0	C			34003681	34003681	-1	no_errors	ENST00000374181	ensembl	human	known	69_37n	missense	33	34.00	17	SNP	0.844	T
GSDMC	56169	genome.wustl.edu	37	8	130789691	130789691	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:130789691G>A	ENST00000276708.4	-	2	1024	c.143C>T	c.(142-144)tCa>tTa	p.S48L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	48						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						TTCCCAAAATGATGAACGAGA	0.428																																						dbGAP											0													147.0	133.0	138.0					8																	130789691		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.143C>T	8.37:g.130789691G>A	ENSP00000276708:p.Ser48Leu		Q5XKF3|Q6P494	Missense_Mutation	SNP	pfam_Gasdermin	p.S48L	ENST00000276708.4	37	c.143	CCDS6360.1	8	.	.	.	.	.	.	.	.	.	.	G	2.264	-0.368476	0.05069	.	.	ENSG00000147697	ENST00000276708	T	0.21031	2.03	3.85	-7.69	0.01263	.	4.394850	0.00357	N	0.000039	T	0.05502	0.0145	N	0.01209	-0.955	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28267	-1.0049	10	0.23302	T	0.38	.	0.6027	0.00747	0.2867:0.2514:0.1056:0.3563	.	48	Q9BYG8	GSDMC_HUMAN	L	48	ENSP00000276708:S48L	ENSP00000276708:S48L	S	-	2	0	GSDMC	130858873	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-8.822000	0.00016	-4.361000	0.00054	0.313000	0.20887	TCA	GSDMC	-	pfam_Gasdermin	ENSG00000147697		0.428	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	183	0.00	0	G			130789691	130789691	-1	no_errors	ENST00000276708	ensembl	human	known	69_37n	missense	133	33.83	68	SNP	0.000	A
GSN	2934	genome.wustl.edu	37	9	124079489	124079489	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:124079489C>T	ENST00000373818.4	+	7	1101	c.1032C>T	c.(1030-1032)gtC>gtT	p.V344V	GSN_ENST00000394353.2_Silent_p.V304V|GSN_ENST00000373823.3_Silent_p.V293V|GSN_ENST00000449733.1_Silent_p.V293V|GSN_ENST00000412819.1_Silent_p.V293V|GSN_ENST00000436847.1_Silent_p.V304V|GSN_ENST00000373807.1_Silent_p.V75V|GSN_ENST00000341272.2_Silent_p.V293V|GSN_ENST00000545652.1_Silent_p.V301V|GSN_ENST00000373808.2_Silent_p.V293V|GSN_ENST00000485767.1_3'UTR	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	344					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						AAATCTTTGTCTGGAAAGGTA	0.582																																						dbGAP											0													109.0	111.0	110.0					9																	124079489		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.1032C>T	9.37:g.124079489C>T			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.V344	ENST00000373818.4	37	c.1032	CCDS6828.1	9																																																																																			GSN	-	pfam_Gelsolin_dom,smart_Gelsolin	ENSG00000148180		0.582	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	115	0.00	0	C	NM_000177		124079489	124079489	+1	no_errors	ENST00000373818	ensembl	human	known	69_37n	silent	109	19.85	27	SNP	1.000	T
GSTO1	9446	genome.wustl.edu	37	10	106027078	106027078	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:106027078C>T	ENST00000369713.5	+	6	835	c.641C>T	c.(640-642)gCc>gTc	p.A214V	GSTO1_ENST00000369710.4_Missense_Mutation_p.A181V|MIR4482-1_ENST00000583050.1_RNA|GSTO2_ENST00000338595.2_5'Flank|GSTO2_ENST00000450629.2_5'Flank|GSTO1_ENST00000539281.1_Missense_Mutation_p.A186V	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	214	GST C-terminal.				cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	ACAGTCTCAGCCCTGCTTACT	0.507																																						dbGAP											0													86.0	76.0	79.0					10																	106027078		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.641C>T	10.37:g.106027078C>T	ENSP00000358727:p.Ala214Val		D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Missense_Mutation	SNP	pfam_GST_C,pfam_Glutathione_S-Trfase_N,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_omega	p.A214V	ENST00000369713.5	37	c.641	CCDS7555.1	10	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685155	0.88639	.	.	ENSG00000148834	ENST00000539281;ENST00000369710;ENST00000369713;ENST00000445155;ENST00000432659	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	4.95	4.95	0.65309	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.167043	0.52532	D	0.000074	T	0.34424	0.0897	M	0.87682	2.9	0.19300	N	0.999978	D	0.57257	0.979	P	0.49561	0.615	T	0.38564	-0.9655	10	0.46703	T	0.11	-2.3126	14.064	0.64817	0.1511:0.8488:0.0:0.0	.	214	P78417	GSTO1_HUMAN	V	186;181;214;186;153	ENSP00000441488:A186V;ENSP00000358724:A181V;ENSP00000358727:A214V;ENSP00000406708:A186V;ENSP00000405325:A153V	ENSP00000358724:A181V	A	+	2	0	GSTO1	106017068	0.733000	0.28132	0.005000	0.12908	0.665000	0.39181	2.853000	0.48317	2.582000	0.87167	0.591000	0.81541	GCC	GSTO1	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000148834		0.507	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTO1	HGNC	protein_coding	OTTHUMT00000050193.1	105	0.00	0	C	NM_004832		106027078	106027078	+1	no_errors	ENST00000369713	ensembl	human	known	69_37n	missense	130	35.32	71	SNP	0.010	T
HABP4	22927	genome.wustl.edu	37	9	99252357	99252357	+	3'UTR	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:99252357C>T	ENST00000375249.4	+	0	1354				HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_3'UTR	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)				AGCTGCACTGCACACCTGTGG	0.502																																						dbGAP											0													56.0	51.0	53.0					9																	99252357		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_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.*37C>T	9.37:g.99252357C>T				RNA	SNP	-	NULL	ENST00000375249.4	37	NULL	CCDS6719.1	9																																																																																			HABP4	-	-	ENSG00000130956		0.502	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP4	HGNC	protein_coding	OTTHUMT00000053269.1	53	0.00	0	C	NM_014282		99252357	99252357	+1	no_errors	ENST00000466976	ensembl	human	known	69_37n	rna	38	65.45	72	SNP	0.000	T
HAUS2	55142	genome.wustl.edu	37	15	42858845	42858845	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:42858845C>T	ENST00000260372.3	+	6	602	c.539C>T	c.(538-540)aCa>aTa	p.T180I	RP11-265N6.2_ENST00000561902.1_RNA|RP11-265N6.2_ENST00000567089.1_RNA|HAUS2_ENST00000568876.1_Missense_Mutation_p.T149I	NM_018097.2	NP_060567.1	Q9NVX0	HAUS2_HUMAN	HAUS augmin-like complex, subunit 2	180					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|HAUS complex (GO:0070652)|microtubule (GO:0005874)|nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(1)	3						GTGACTGAGACAGAAGAACTG	0.333																																						dbGAP											0													81.0	83.0	83.0					15																	42858845		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK001322	CCDS10090.1, CCDS45247.1	15q15.1	2014-02-20	2009-04-20	2009-04-20	ENSG00000137814	ENSG00000137814		"""HAUS augmin-like complex subunits"""	25530	protein-coding gene	gene with protein product		613429	"""chromosome 15 open reading frame 25"", ""centrosomal protein 27kDa"""	C15orf25, CEP27		14702039, 14654843, 19427217	Standard	NM_018097		Approved	FLJ10460, HsT17025	uc001zqe.3	Q9NVX0	OTTHUMG00000130678	ENST00000260372.3:c.539C>T	15.37:g.42858845C>T	ENSP00000260372:p.Thr180Ile		C9JH36|Q9H9B3	Missense_Mutation	SNP	NULL	p.T180I	ENST00000260372.3	37	c.539	CCDS10090.1	15	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354821	0.61293	.	.	ENSG00000137814	ENST00000260372;ENST00000391623	T	0.51817	0.69	6.05	5.14	0.70334	.	0.270733	0.37437	N	0.002086	T	0.57710	0.2072	L	0.59436	1.845	0.37599	D	0.920487	D;P	0.69078	0.997;0.865	D;B	0.63033	0.91;0.391	T	0.58880	-0.7558	10	0.11794	T	0.64	.	12.5582	0.56265	0.0:0.9225:0.0:0.0775	.	149;180	Q9NVX0-3;Q9NVX0	.;HAUS2_HUMAN	I	180;149	ENSP00000260372:T180I	ENSP00000260372:T180I	T	+	2	0	HAUS2	40646137	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.780000	0.38634	1.579000	0.49836	0.655000	0.94253	ACA	HAUS2	-	NULL	ENSG00000137814		0.333	HAUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS2	HGNC	protein_coding	OTTHUMT00000253173.1	102	0.00	0	C	NM_018097		42858845	42858845	+1	no_errors	ENST00000260372	ensembl	human	known	69_37n	missense	89	10.10	10	SNP	1.000	T
HAUS8	93323	genome.wustl.edu	37	19	17169673	17169673	+	Frame_Shift_Del	DEL	G	G	-	rs572498476		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:17169673delG	ENST00000253669.5	-	7	624	c.434delC	c.(433-435)gcafs	p.A145fs	HAUS8_ENST00000593360.1_Frame_Shift_Del_p.A84fs|HAUS8_ENST00000448593.2_Frame_Shift_Del_p.A144fs			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	145					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						CATTTCCATTGCTTCAGATAA	0.443																																						dbGAP											0													84.0	72.0	76.0					19																	17169673		2203	4300	6503	-	-	-	SO:0001589	frameshift_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.434delC	19.37:g.17169673delG	ENSP00000253669:p.Ala145fs		B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Frame_Shift_Del	DEL	NULL	p.A145fs	ENST00000253669.5	37	c.434	CCDS32948.1	19																																																																																			HAUS8	-	NULL	ENSG00000131351		0.443	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HAUS8	HGNC	protein_coding	OTTHUMT00000463015.1	103	0.00	0	G	NM_001011699		17169673	17169673	-1	no_errors	ENST00000253669	ensembl	human	known	69_37n	frame_shift_del	60	11.76	8	DEL	0.000	-
HDX	139324	genome.wustl.edu	37	X	83616512	83616512	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:83616512C>T	ENST00000297977.5	-	5	1525	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M	HDX_ENST00000373177.2_Missense_Mutation_p.V472M|HDX_ENST00000506585.2_Missense_Mutation_p.V414M	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	472						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCAGTTGCCACAGCTTCAATT	0.403																																					Pancreas(53;231 1169 36156 43751 51139)	dbGAP											0													75.0	62.0	66.0					X																	83616512		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1414G>A	X.37:g.83616512C>T	ENSP00000297977:p.Val472Met		A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.V472M	ENST00000297977.5	37	c.1414	CCDS35342.1	X	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564070	0.86335	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	D;D;D	0.96168	-3.93;-3.93;-3.93	5.42	5.42	0.78866	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.061553	0.64402	D	0.000004	D	0.95376	0.8499	N	0.14661	0.345	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.96963	0.9703	10	0.72032	D	0.01	-18.0081	18.3187	0.90230	0.0:1.0:0.0:0.0	.	472	Q7Z353	HDX_HUMAN	M	472;414;472	ENSP00000297977:V472M;ENSP00000362272:V414M;ENSP00000423670:V472M	ENSP00000297977:V472M	V	-	1	0	HDX	83503168	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.642000	0.83385	2.266000	0.75297	0.544000	0.68410	GTG	HDX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000165259		0.403	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HDX	HGNC	protein_coding	OTTHUMT00000057379.2	115	0.00	0	C	NM_144657		83616512	83616512	-1	no_errors	ENST00000297977	ensembl	human	known	69_37n	missense	93	19.83	23	SNP	1.000	T
HEATR5A	25938	genome.wustl.edu	37	14	31844039	31844039	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:31844039C>T	ENST00000389961.3	-	11	1825	c.1826G>A	c.(1825-1827)cGa>cAa	p.R609Q	HEATR5A_ENST00000439348.1_Missense_Mutation_p.R609Q|HEATR5A_ENST00000543095.2_Missense_Mutation_p.R615Q|HEATR5A_ENST00000439727.1_Missense_Mutation_p.R322Q|HEATR5A_ENST00000404677.3_Missense_Mutation_p.R615Q			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	609										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TGCACCAGCTCGTCCTTCCAG	0.443																																						dbGAP											0													60.0	63.0	62.0					14																	31844039		1977	4162	6139	-	-	-	SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1826G>A	14.37:g.31844039C>T	ENSP00000374611:p.Arg609Gln		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R609Q	ENST00000389961.3	37	c.1826		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.976964|4.976964	0.92982|0.92982	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000538864|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.75589	.|-0.95;-0.95;-0.95;-0.95;-0.95	5.75|5.75	4.83|4.83	0.62350|0.62350	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.87103|0.87103	0.6094|0.6094	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.998;0.969;1.0	D|D	0.88781|0.88781	0.3271|0.3271	5|10	.|0.87932	.|D	.|0	.|.	16.8708|16.8708	0.86040|0.86040	0.0:0.8722:0.1278:0.0|0.0:0.8722:0.1278:0.0	.|.	.|615;609;609	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	K|Q	243|609;609;322;615;615	.|ENSP00000374611:R609Q;ENSP00000405407:R609Q;ENSP00000408681:R322Q;ENSP00000437968:R615Q;ENSP00000384646:R615Q	.|ENSP00000374611:R609Q	E|R	-|-	1|2	0|0	HEATR5A|HEATR5A	30913790|30913790	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.750000|7.750000	0.85110|0.85110	2.707000|2.707000	0.92482|0.92482	0.650000|0.650000	0.86243|0.86243	GAG|CGA	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.443	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		99	0.00	0	C	NM_015473		31844039	31844039	-1	no_errors	ENST00000389961	ensembl	human	known	69_37n	missense	89	23.93	28	SNP	1.000	T
HEATR5A	25938	genome.wustl.edu	37	14	31844166	31844166	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:31844166C>T	ENST00000389961.3	-	11	1698	c.1699G>A	c.(1699-1701)Gtt>Att	p.V567I	HEATR5A_ENST00000439348.1_Missense_Mutation_p.V567I|HEATR5A_ENST00000543095.2_Missense_Mutation_p.V573I|HEATR5A_ENST00000439727.1_Missense_Mutation_p.V280I|HEATR5A_ENST00000404677.3_Missense_Mutation_p.V573I			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	567										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TGGCTAACAACTGCAGGACCT	0.403																																						dbGAP											0													54.0	56.0	55.0					14																	31844166		1924	4138	6062	-	-	-	SO:0001583	missense	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.1699G>A	14.37:g.31844166C>T	ENSP00000374611:p.Val567Ile		Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.V567I	ENST00000389961.3	37	c.1699		14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.71|16.71	3.197564|3.197564	0.58126|0.58126	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000550366|ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095;ENST00000404677	.|T;T;T;T;T	.|0.08720	.|3.06;3.06;3.06;3.06;3.06	5.72|5.72	3.69|3.69	0.42338|0.42338	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.131331	.|0.49916	.|D	.|0.000122	T|T	0.20333|0.20333	0.0489|0.0489	M|M	0.77103|0.77103	2.36|2.36	0.53688|0.53688	D|D	0.999978|0.999978	.|P;P;P	.|0.37083	.|0.455;0.581;0.471	.|B;B;P	.|0.45474	.|0.223;0.287;0.482	T|T	0.05194|0.05194	-1.0900|-1.0900	5|10	.|0.62326	.|D	.|0.03	.|.	16.0712|16.0712	0.80936|0.80936	0.2684:0.7316:0.0:0.0|0.2684:0.7316:0.0:0.0	.|.	.|573;567;567	.|B5MC49;Q86XA9-2;Q86XA9	.|.;.;HTR5A_HUMAN	N|I	215|567;567;280;573;573	.|ENSP00000374611:V567I;ENSP00000405407:V567I;ENSP00000408681:V280I;ENSP00000437968:V573I;ENSP00000384646:V573I	.|ENSP00000374611:V567I	S|V	-|-	2|1	0|0	HEATR5A|HEATR5A	30913917|30913917	0.994000|0.994000	0.37717|0.37717	0.983000|0.983000	0.44433|0.44433	0.993000|0.993000	0.82548|0.82548	2.830000|2.830000	0.48136|0.48136	1.383000|1.383000	0.46405|0.46405	0.650000|0.650000	0.86243|0.86243	AGT|GTT	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.403	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		57	0.00	0	C	NM_015473		31844166	31844166	-1	no_errors	ENST00000389961	ensembl	human	known	69_37n	missense	42	34.38	22	SNP	1.000	T
HEATR6	63897	genome.wustl.edu	37	17	58128214	58128214	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:58128214C>T	ENST00000184956.6	-	15	2430	c.2414G>A	c.(2413-2415)aGc>aAc	p.S805N	HEATR6_ENST00000585976.1_Missense_Mutation_p.S693N	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	805							poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CGGCAGATTGCTGAAGGCCTC	0.507																																						dbGAP											0													73.0	68.0	70.0					17																	58128214		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640819	CCDS11623.1	17q23.2	2007-05-01				ENSG00000068097			24076	protein-coding gene	gene with protein product	"""amplified in breast cancer 1"""					12755490	Standard	NM_022070		Approved	ABC1, FLJ22087	uc002iyk.1	Q6AI08		ENST00000184956.6:c.2414G>A	17.37:g.58128214C>T	ENSP00000184956:p.Ser805Asn		B3KXP3|Q6MZX1|Q6MZY2|Q8TDM9|Q9H6B3|Q9H6M7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S805N	ENST00000184956.6	37	c.2414	CCDS11623.1	17	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442515	0.43326	.	.	ENSG00000068097	ENST00000184956;ENST00000393017	T	0.65178	-0.14	5.45	4.48	0.54585	Armadillo-like helical (1);Armadillo-type fold (1);	0.269483	0.48767	D	0.000165	T	0.49558	0.1564	L	0.38531	1.155	0.09310	N	1	B;B	0.33583	0.242;0.418	B;B	0.28553	0.091;0.069	T	0.43245	-0.9403	10	0.37606	T	0.19	-2.596	13.3454	0.60571	0.0:0.9246:0.0:0.0754	.	540;805	E7ESB9;Q6AI08	.;HEAT6_HUMAN	N	805;540	ENSP00000184956:S805N	ENSP00000184956:S805N	S	-	2	0	HEATR6	55482996	1.000000	0.71417	0.954000	0.39281	0.913000	0.54294	2.937000	0.48979	1.458000	0.47871	0.650000	0.86243	AGC	HEATR6	-	superfamily_ARM-type_fold	ENSG00000068097		0.507	HEATR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR6	HGNC	protein_coding	OTTHUMT00000449165.1	59	0.00	0	C	NM_022070		58128214	58128214	-1	no_errors	ENST00000184956	ensembl	human	known	69_37n	missense	54	11.48	7	SNP	0.913	T
HELQ	113510	genome.wustl.edu	37	4	84361019	84361019	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:84361019C>T	ENST00000295488.3	-	8	1967	c.1805G>A	c.(1804-1806)aGc>aAc	p.S602N	HELQ_ENST00000510985.1_Missense_Mutation_p.S535N	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	602	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AACATACTTGCTTAAAAATTT	0.284								Other identified genes with known or suspected DNA repair function																														dbGAP											0													33.0	36.0	35.0					4																	84361019		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1805G>A	4.37:g.84361019C>T	ENSP00000295488:p.Ser602Asn		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S602N	ENST00000295488.3	37	c.1805	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	C	3.440	-0.114315	0.06881	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.42131	0.98;0.98	5.68	3.64	0.41730	Helicase, C-terminal (2);	0.131126	0.64402	D	0.000001	T	0.16811	0.0404	N	0.03983	-0.305	0.35227	D	0.776546	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.13124	-1.0521	10	0.19590	T	0.45	.	6.3956	0.21611	0.0:0.6322:0.0:0.3678	.	535;602	E3W980;Q8TDG4	.;HELQ_HUMAN	N	602;535	ENSP00000295488:S602N;ENSP00000424539:S535N	ENSP00000295488:S602N	S	-	2	0	HELQ	84580043	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.754000	0.47532	1.403000	0.46800	0.655000	0.94253	AGC	HELQ	-	smart_Helicase_C,pfscan_Helicase_C	ENSG00000163312		0.284	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	90	0.00	0	C	NM_133636		84361019	84361019	-1	no_errors	ENST00000295488	ensembl	human	known	69_37n	missense	54	40.66	37	SNP	1.000	T
HERC4	26091	genome.wustl.edu	37	10	69700784	69700784	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:69700784G>A	ENST00000395198.3	-	21	2687	c.2440C>T	c.(2440-2442)Ctc>Ttc	p.L814F	HERC4_ENST00000412272.2_Intron|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.L806F|HERC4_ENST00000277817.6_Missense_Mutation_p.L704F	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	814	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						GGAAAATGGAGGTCCACAATG	0.333																																						dbGAP											0													107.0	112.0	110.0					10																	69700784		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.2440C>T	10.37:g.69700784G>A	ENSP00000378624:p.Leu814Phe		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.L814F	ENST00000395198.3	37	c.2440	CCDS41533.1	10	.	.	.	.	.	.	.	.	.	.	G	31	5.061648	0.93846	.	.	ENSG00000148634	ENST00000277817;ENST00000395198;ENST00000373700	T;T;T	0.60920	0.15;0.15;0.15	5.66	5.66	0.87406	HECT (4);	0.000000	0.85682	D	0.000000	T	0.70237	0.3201	L	0.39020	1.185	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.997;0.98;0.997;0.998	T	0.72191	-0.4365	10	0.87932	D	0	.	19.7297	0.96177	0.0:0.0:1.0:0.0	.	704;664;806;814	Q5GLZ8-6;Q5VXS9;Q5GLZ8-2;Q5GLZ8	.;.;.;HERC4_HUMAN	F	704;814;806	ENSP00000277817:L704F;ENSP00000378624:L814F;ENSP00000362804:L806F	ENSP00000277817:L704F	L	-	1	0	HERC4	69370790	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.744000	0.74854	2.658000	0.90341	0.650000	0.86243	CTC	HERC4	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000148634		0.333	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC4	HGNC	protein_coding	OTTHUMT00000359262.1	240	0.00	0	G	NM_015601		69700784	69700784	-1	no_errors	ENST00000395198	ensembl	human	known	69_37n	missense	174	13.00	26	SNP	1.000	A
HIPK3	10114	genome.wustl.edu	37	11	33373169	33373169	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:33373169G>A	ENST00000303296.4	+	15	3128	c.2823G>A	c.(2821-2823)gaG>gaA	p.E941E	HIPK3_ENST00000456517.1_Silent_p.E920E|HIPK3_ENST00000525975.1_Silent_p.E920E|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000379016.3_Silent_p.E920E	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	941	Interaction with AR. {ECO:0000250}.|Required for localization to nuclear speckles. {ECO:0000250}.|Ser-rich.				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						CAGATGAAGAGCAAGAAAGTA	0.393																																						dbGAP											0													82.0	80.0	81.0					11																	33373169		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	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.2823G>A	11.37:g.33373169G>A			O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	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.E941	ENST00000303296.4	37	c.2823	CCDS7884.1	11																																																																																			HIPK3	-	NULL	ENSG00000110422		0.393	HIPK3-001	KNOWN	basic|CCDS	protein_coding	HIPK3	HGNC	protein_coding	OTTHUMT00000255358.1	187	0.00	0	G	NM_005734		33373169	33373169	+1	no_errors	ENST00000303296	ensembl	human	known	69_37n	silent	154	12.50	22	SNP	0.875	A
HINFP	25988	genome.wustl.edu	37	11	119003678	119003679	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:119003678_119003679GC>TT	ENST00000350777.2	+	8	1043_1044	c.980_981GC>TT	c.(979-981)tGC>tTT	p.C327F	HINFP_ENST00000527410.1_Missense_Mutation_p.C327F	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	327					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CGATCCCTCTGCTCTATCAAGT	0.53																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	Exception_encountered	11.37:g.119003678_119003679delinsTT	ENSP00000318085:p.Cys327Phe		B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation|Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C327F|p.C327	ENST00000350777.2	37	c.980|c.981	CCDS8414.1	11																																																																																			HINFP	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000172273		0.530	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINFP	HGNC	protein_coding	OTTHUMT00000388201.2	159|160	0.00	0	G|C	NM_015517		119003678|119003679	119003678|119003679	+1	no_errors	ENST00000350777	ensembl	human	known	69_37n	missense|silent	95|93	57.01|60.26	126|141	SNP	0.984|0.998	T
HIST1H2BE	8344	genome.wustl.edu	37	6	26184061	26184061	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:26184061A>G	ENST00000356530.3	+	1	104	c.38A>G	c.(37-39)aAg>aGg	p.K13R		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	13					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						GCCCCGAAGAAGGGCTCCAAG	0.542																																						dbGAP											0													97.0	93.0	95.0					6																	26184061		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.38A>G	6.37:g.26184061A>G	ENSP00000348924:p.Lys13Arg		P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.K13R	ENST00000356530.3	37	c.38	CCDS4588.1	6	.	.	.	.	.	.	.	.	.	.	.	15.18	2.757315	0.49468	.	.	ENSG00000197697	ENST00000356530	T	0.25250	1.81	5.08	5.08	0.68730	.	0.000000	0.35677	U	0.003043	T	0.33147	0.0853	.	.	.	0.43608	D	0.995973	.	.	.	.	.	.	T	0.09422	-1.0675	7	0.59425	D	0.04	.	14.3225	0.66496	1.0:0.0:0.0:0.0	.	.	.	.	R	13	ENSP00000348924:K13R	ENSP00000348924:K13R	K	+	2	0	HIST1H2BE	26292040	1.000000	0.71417	0.998000	0.56505	0.219000	0.24729	8.921000	0.92784	2.042000	0.60477	0.491000	0.48974	AAG	HIST1H2BE	-	superfamily_Histone-fold	ENSG00000197697		0.542	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BE	HGNC	protein_coding	OTTHUMT00000040090.1	127	0.00	0	A	NM_003523		26184061	26184061	+1	no_errors	ENST00000356530	ensembl	human	known	69_37n	missense	143	51.03	149	SNP	1.000	G
HIST1H2BE	8344	genome.wustl.edu	37	6	26184323	26184323	+	Silent	SNP	C	C	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:26184323C>G	ENST00000356530.3	+	1	366	c.300C>G	c.(298-300)cgC>cgG	p.R100R		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	100					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(1)	4						CGGCCGTGCGCCTGCTGCTTC	0.622																																						dbGAP											0													55.0	59.0	58.0					6																	26184323		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z80780	CCDS4588.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197697	ENSG00000274290		"""Histones / Replication-dependent"""	4753	protein-coding gene	gene with protein product		602805	"""H2B histone family, member H"", ""histone 1, H2be"""	H2BFH		9119399, 12408966	Standard	NM_003523		Approved	H2B/h, H2B.h	uc003ngt.3	P62807	OTTHUMG00000014427	ENST00000356530.3:c.300C>G	6.37:g.26184323C>G			P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.R100	ENST00000356530.3	37	c.300	CCDS4588.1	6																																																																																			HIST1H2BE	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000197697		0.622	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BE	HGNC	protein_coding	OTTHUMT00000040090.1	96	0.00	0	C	NM_003523		26184323	26184323	+1	no_errors	ENST00000356530	ensembl	human	known	69_37n	silent	129	29.35	54	SNP	1.000	G
HIVEP1	3096	genome.wustl.edu	37	6	12164065	12164065	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:12164065G>A	ENST00000379388.2	+	9	7860	c.7528G>A	c.(7528-7530)Gtc>Atc	p.V2510I	HIVEP1_ENST00000541134.1_Missense_Mutation_p.V375I	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2510					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGCCCCACAAGTCCATCCACC	0.537																																						dbGAP											0													72.0	75.0	74.0					6																	12164065		1987	4164	6151	-	-	-	SO:0001583	missense	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.7528G>A	6.37:g.12164065G>A	ENSP00000368698:p.Val2510Ile		B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V2510I	ENST00000379388.2	37	c.7528	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	0.400	-0.918870	0.02396	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.30448	3.04;1.53	5.74	4.87	0.63330	.	0.534635	0.14042	N	0.345364	T	0.07773	0.0195	L	0.39898	1.24	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.35525	-0.9785	10	0.08599	T	0.76	-2.1832	5.4878	0.16759	0.2654:0.0:0.7346:0.0	.	2510	P15822	ZEP1_HUMAN	I	2510;375;492	ENSP00000368698:V2510I;ENSP00000445617:V375I	ENSP00000368698:V2510I	V	+	1	0	HIVEP1	12272051	0.833000	0.29383	0.009000	0.14445	0.001000	0.01503	5.035000	0.64158	2.717000	0.92951	0.655000	0.94253	GTC	HIVEP1	-	NULL	ENSG00000095951		0.537	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	156	0.00	0	G	NM_002114		12164065	12164065	+1	no_errors	ENST00000379388	ensembl	human	known	69_37n	missense	102	15.00	18	SNP	0.104	A
HIST1H4E	8367	genome.wustl.edu	37	6	26204905	26204905	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:26204905G>A	ENST00000360441.4	+	1	48	c.33G>A	c.(31-33)ctG>ctA	p.L11L		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	11					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	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)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GAAAGGGACTGGGTAAAGGAG	0.542																																						dbGAP											0													80.0	82.0	82.0					6																	26204905		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.33G>A	6.37:g.26204905G>A			A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L11	ENST00000360441.4	37	c.33	CCDS4593.1	6																																																																																			HIST1H4E	-	superfamily_Histone-fold,prints_Histone_H4	ENSG00000198518		0.542	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4E	HGNC	protein_coding	OTTHUMT00000040104.1	120	0.00	0	G	NM_003545		26204905	26204905	+1	no_errors	ENST00000360441	ensembl	human	known	69_37n	silent	161	16.49	32	SNP	0.624	A
HJURP	55355	genome.wustl.edu	37	2	234750354	234750354	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:234750354C>T	ENST00000411486.2	-	8	1137	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	HJURP_ENST00000434039.1_5'Flank|HJURP_ENST00000432087.1_Missense_Mutation_p.A304T|HJURP_ENST00000441687.1_Missense_Mutation_p.A273T	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	358					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TCAAGAAAAGCTTTTTCCAAT	0.423																																						dbGAP											0													76.0	77.0	77.0					2																	234750354		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.1072G>A	2.37:g.234750354C>T	ENSP00000414109:p.Ala358Thr		A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N	p.A358T	ENST00000411486.2	37	c.1072	CCDS33406.1	2	.	.	.	.	.	.	.	.	.	.	C	17.29	3.353011	0.61293	.	.	ENSG00000123485	ENST00000411486;ENST00000432087;ENST00000441687;ENST00000414924	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.3	3.4	0.38934	Holliday junction recognition protein, HJURP (1);	0.662661	0.14120	N	0.340106	T	0.57330	0.2046	L	0.53249	1.67	0.09310	N	1	D;P;D	0.58970	0.98;0.944;0.984	P;P;P	0.58873	0.646;0.646;0.847	T	0.46034	-0.9220	10	0.66056	D	0.02	-2.0157	10.1685	0.42895	0.0:0.7979:0.2021:0.0	.	273;304;358	Q8NCD3-3;Q8NCD3-2;Q8NCD3	.;.;HJURP_HUMAN	T	358;304;273;273	ENSP00000414109:A358T;ENSP00000407208:A304T;ENSP00000401944:A273T;ENSP00000393253:A273T	ENSP00000414109:A358T	A	-	1	0	HJURP	234415093	0.000000	0.05858	0.002000	0.10522	0.088000	0.18126	0.018000	0.13422	1.367000	0.46095	0.655000	0.94253	GCT	HJURP	-	pfam_HJURP	ENSG00000123485		0.423	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HJURP	HGNC	protein_coding	OTTHUMT00000130996.6	115	0.00	0	C	NM_018410		234750354	234750354	-1	no_errors	ENST00000411486	ensembl	human	known	69_37n	missense	173	12.12	24	SNP	0.002	T
HM13	81502	genome.wustl.edu	37	20	30142632	30142632	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:30142632G>A	ENST00000340852.5	+	8	932	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	HM13_ENST00000335574.5_Splice_Site_p.G270R|HM13_ENST00000376127.3_Splice_Site_p.G228R|HM13_ENST00000398174.3_Splice_Site_p.G270R|HM13_ENST00000492709.1_3'UTR	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	270					membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CGTCATTCCAGGTGAGCCTGC	0.562																																						dbGAP											0													121.0	116.0	118.0					20																	30142632		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.808+1G>A	20.37:g.30142632G>A			B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	p.G270R	ENST00000340852.5	37	c.808	CCDS13182.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.236087	0.95240	.	.	ENSG00000101294	ENST00000335574;ENST00000340852;ENST00000398174;ENST00000376127;ENST00000344042	T;T;T;T;T	0.61980	0.06;0.06;0.06;0.06;0.06	5.37	5.37	0.77165	.	0.097133	0.64402	D	0.000001	D	0.87450	0.6180	H	0.98256	4.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.92091	0.5680	10	0.87932	D	0	-2.4908	18.1003	0.89504	0.0:0.0:1.0:0.0	.	270;270;270	Q8TCT9;Q8TCT9-4;Q8TCT9-2	HM13_HUMAN;.;.	R	270;270;270;228;228	ENSP00000335294:G270R;ENSP00000343032:G270R;ENSP00000381237:G270R;ENSP00000365296:G228R;ENSP00000341347:G228R	ENSP00000335294:G270R	G	+	1	0	HM13	29606293	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.083000	0.94067	2.531000	0.85337	0.557000	0.71058	GGG	HM13	-	pfam_Peptidase_A22B_SPP,smart_Peptidase_A22	ENSG00000101294		0.562	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	HGNC	protein_coding	OTTHUMT00000078527.2	62	0.00	0	G	NM_178580	Missense_Mutation	30142632	30142632	+1	no_errors	ENST00000398174	ensembl	human	known	69_37n	missense	55	47.12	49	SNP	1.000	A
HNMT	3176	genome.wustl.edu	37	2	138722143	138722143	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:138722143G>A	ENST00000280097.3	+	1	264	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000280096.5_Missense_Mutation_p.E28K|HNMT_ENST00000329366.4_Missense_Mutation_p.E28K|HNMT_ENST00000410115.1_Missense_Mutation_p.E28K	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	28					brain development (GO:0007420)|hyperosmotic response (GO:0006972)|respiratory gaseous exchange (GO:0007585)|response to amine (GO:0014075)|response to cocaine (GO:0042220)|response to glucocorticoid (GO:0051384)|response to interleukin-1 (GO:0070555)|response to tumor cell (GO:0002347)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	histamine N-methyltransferase activity (GO:0046539)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Chlorhexidine(DB00878)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	CCATTCCACGGAACACCAGTG	0.458																																						dbGAP											0													150.0	147.0	148.0					2																	138722143		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2181.1, CCDS33296.1, CCDS33297.1	2q22.1	2008-02-05			ENSG00000150540	ENSG00000150540	2.1.1.8		5028	protein-coding gene	gene with protein product		605238					Standard	NM_001024074		Approved		uc002tvf.3	P50135	OTTHUMG00000131751	ENST00000280097.3:c.82G>A	2.37:g.138722143G>A	ENSP00000280097:p.Glu28Lys		B2R9J3|Q546Z6|Q7Z7I2|Q8IU56|Q8WW98|Q9BRW6	Missense_Mutation	SNP	pfam_Methyltransf_12,pirsf_Histamine_N-methyltransferase	p.E28K	ENST00000280097.3	37	c.82	CCDS2181.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.324267	0.95708	.	.	ENSG00000150540	ENST00000410115;ENST00000329366;ENST00000280097;ENST00000280096	T;T;T;T	0.41400	1.0;1.0;1.0;1.75	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.997;1.0	T	0.70432	-0.4873	10	0.87932	D	0	-5.0647	17.7338	0.88387	0.0:0.0:1.0:0.0	.	28;28;28	P50135-2;Q9BRW6;P50135	.;.;HNMT_HUMAN	K	28	ENSP00000386940:E28K;ENSP00000333259:E28K;ENSP00000280097:E28K;ENSP00000280096:E28K	ENSP00000280096:E28K	E	+	1	0	HNMT	138438613	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.423000	0.80229	2.728000	0.93425	0.561000	0.74099	GAA	HNMT	-	pirsf_Histamine_N-methyltransferase	ENSG00000150540		0.458	HNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNMT	HGNC	protein_coding	OTTHUMT00000254673.1	412	0.00	0	G			138722143	138722143	+1	no_errors	ENST00000280097	ensembl	human	known	69_37n	missense	413	23.76	129	SNP	1.000	A
HPS5	11234	genome.wustl.edu	37	11	18306957	18306957	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:18306957G>A	ENST00000349215.3	-	20	3164	c.2887C>T	c.(2887-2889)Cta>Tta	p.L963L	HPS5_ENST00000352460.3_Intron|HPS5_ENST00000537258.1_Silent_p.L70L|HPS5_ENST00000438420.2_Silent_p.L849L|HPS5_ENST00000396253.3_Silent_p.L849L	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	963					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGTTTAATTAGATGAAGGATC	0.353									Hermansky-Pudlak syndrome																													dbGAP											0													66.0	70.0	69.0					11																	18306957		2199	4293	6492	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2887C>T	11.37:g.18306957G>A			A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit	p.L963	ENST00000349215.3	37	c.2887	CCDS7836.1	11																																																																																			HPS5	-	pirsf_BLOC-2_complex_Hps5_subunit	ENSG00000110756		0.353	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS5	HGNC	protein_coding	OTTHUMT00000390808.1	121	0.00	0	G	NM_181507		18306957	18306957	-1	no_errors	ENST00000349215	ensembl	human	known	69_37n	silent	102	20.16	26	SNP	0.999	A
HRASLS5	117245	genome.wustl.edu	37	11	63235930	63235930	+	Missense_Mutation	SNP	G	G	A	rs141712509		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:63235930G>A	ENST00000301790.4	-	4	542	c.383C>T	c.(382-384)cCa>cTa	p.P128L	HRASLS5_ENST00000540857.1_Missense_Mutation_p.P118L|HRASLS5_ENST00000539221.1_Missense_Mutation_p.P128L			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	128							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCTGGGTCTTGGTTTTCCCTA	0.463																																						dbGAP											0													94.0	92.0	93.0					11																	63235930		2201	4298	6499	-	-	-	SO:0001583	missense	0			AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.383C>T	11.37:g.63235930G>A	ENSP00000301790:p.Pro128Leu		B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	pfam_LRAT-like_dom	p.P128L	ENST00000301790.4	37	c.383	CCDS8044.1	11	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143061	0.37825	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	T;T;T	0.22336	1.96;1.96;1.96	4.23	1.3	0.21679	.	0.866135	0.10347	N	0.685612	T	0.17662	0.0424	L	0.52905	1.665	0.41378	D	0.987538	P;B;P	0.41848	0.763;0.418;0.695	B;B;B	0.37451	0.242;0.122;0.25	T	0.14309	-1.0477	10	0.66056	D	0.02	2.4416	3.8654	0.09013	0.2029:0.0:0.6082:0.1889	.	128;118;128	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	L	118;128;128	ENSP00000444809:P118L;ENSP00000443873:P128L;ENSP00000301790:P128L	ENSP00000301790:P128L	P	-	2	0	HRASLS5	62992506	0.989000	0.36119	0.103000	0.21229	0.880000	0.50808	0.881000	0.28173	0.298000	0.22638	0.561000	0.74099	CCA	HRASLS5	-	NULL	ENSG00000168004		0.463	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HRASLS5	HGNC	protein_coding	OTTHUMT00000396375.1	195	0.00	0	G	NM_054108		63235930	63235930	-1	no_errors	ENST00000301790	ensembl	human	known	69_37n	missense	203	17.07	42	SNP	0.963	A
HS3ST4	9951	genome.wustl.edu	37	16	26147545	26147545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:26147545G>A	ENST00000331351.5	+	2	1739	c.1347G>A	c.(1345-1347)tgG>tgA	p.W449*		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	449					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		ATTTTCAGTGGGAACAGGAAG	0.463																																						dbGAP											0													50.0	45.0	47.0					16																	26147545		1568	3582	5150	-	-	-	SO:0001587	stop_gained	0			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1347G>A	16.37:g.26147545G>A	ENSP00000330606:p.Trp449*		Q5QI42|Q8NDC2	Nonsense_Mutation	SNP	pfam_Sulfotransferase_dom	p.W449*	ENST00000331351.5	37	c.1347	CCDS53995.1	16	.	.	.	.	.	.	.	.	.	.	G	38	7.264355	0.98171	.	.	ENSG00000182601	ENST00000331351	.	.	.	5.56	5.56	0.83823	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5023	0.90887	0.0:0.0:1.0:0.0	.	.	.	.	X	449	.	ENSP00000330606:W449X	W	+	3	0	HS3ST4	26055046	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.823000	0.99369	2.602000	0.87976	0.655000	0.94253	TGG	HS3ST4	-	NULL	ENSG00000182601		0.463	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST4	HGNC	protein_coding	OTTHUMT00000133286.2	83	0.00	0	G	NM_006040		26147545	26147545	+1	no_errors	ENST00000331351	ensembl	human	known	69_37n	nonsense	60	31.03	27	SNP	1.000	A
HSD17B2	3294	genome.wustl.edu	37	16	82104721	82104721	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:82104721G>A	ENST00000199936.4	+	3	846	c.653G>A	c.(652-654)aGc>aAc	p.S218N	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	218					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						GTGAATGTCAGCAGCATGGGA	0.483																																						dbGAP											0													120.0	117.0	118.0					16																	82104721		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.653G>A	16.37:g.82104721G>A	ENSP00000199936:p.Ser218Asn		B2R7T4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.S218N	ENST00000199936.4	37	c.653	CCDS10936.1	16	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613378	0.66672	.	.	ENSG00000086696	ENST00000199936	D	0.94330	-3.4	6.03	4.01	0.46588	NAD(P)-binding domain (1);	0.371940	0.31531	N	0.007484	D	0.97192	0.9082	M	0.89840	3.065	0.33828	D	0.629894	D	0.89917	1.0	D	0.85130	0.997	D	0.99964	1.1797	10	0.72032	D	0.01	.	16.2675	0.82597	0.0:0.5224:0.4776:0.0	.	218	P37059	DHB2_HUMAN	N	218	ENSP00000199936:S218N	ENSP00000199936:S218N	S	+	2	0	HSD17B2	80662222	1.000000	0.71417	0.961000	0.40146	0.631000	0.37964	3.344000	0.52174	0.835000	0.34877	0.644000	0.83932	AGC	HSD17B2	-	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000086696		0.483	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B2	HGNC	protein_coding	OTTHUMT00000269057.2	139	0.00	0	G	NM_002153		82104721	82104721	+1	no_errors	ENST00000199936	ensembl	human	known	69_37n	missense	91	22.88	27	SNP	1.000	A
HSFY1P1	27437	genome.wustl.edu	37	22	17308375	17308375	+	RNA	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:17308375C>T	ENST00000425038.1	+	0	12					NR_003607.1				heat shock transcription factor, Y-linked 1 pseudogene 1																		ACTGAAGCAGCATTTGAAGCT	0.423																																						dbGAP											0																																										-	-	-			0			AY026053		22q11.2	2010-08-04	2010-08-04	2010-08-04	ENSG00000229027	ENSG00000229027			1846	pseudogene	pseudogene			"""cat eye syndrome chromosome region, candidate 8"", ""cat eye syndrome chromosome region, candidate 8 (non-protein coding)"""	CECR8		11381032	Standard	NR_003607		Approved	HSFYP1, HSFYL1	uc010gqr.1		OTTHUMG00000143727		22.37:g.17308375C>T				RNA	SNP	-	NULL	ENST00000425038.1	37	NULL		22																																																																																			HSFY1P1	-	-	ENSG00000229027		0.423	HSFY1P1-002	KNOWN	basic	processed_transcript	HSFY1P1	HGNC	pseudogene	OTTHUMT00000289790.2	34	0.00	0	C	NR_003607		17308375	17308375	+1	no_errors	ENST00000425038	ensembl	human	known	69_37n	rna	50	19.35	12	SNP	0.376	T
HTRA1	5654	genome.wustl.edu	37	10	124266235	124266235	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:124266235G>A	ENST00000368984.3	+	4	934	c.806G>A	c.(805-807)cGc>cAc	p.R269H		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	269	Serine protease.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				CTGCTTGGCCGCTCCTCAGAG	0.557																																						dbGAP											0													58.0	62.0	61.0					10																	124266235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.806G>A	10.37:g.124266235G>A	ENSP00000357980:p.Arg269His		D3DRE4|Q9UNS5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PDZ,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_IGFBP-like,superfamily_Pept_cys/ser_Trypsin-like,superfamily_PDZ,smart_IGFBP-like,smart_Prot_inh_Kazal,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.R269H	ENST00000368984.3	37	c.806	CCDS7630.1	10	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483390	0.44147	.	.	ENSG00000166033	ENST00000368984;ENST00000435263;ENST00000420892	D;D	0.90385	-2.36;-2.66	5.24	5.24	0.73138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.053611	0.85682	D	0.000000	D	0.86736	0.6004	L	0.48260	1.515	0.58432	D	0.999999	B	0.17667	0.023	B	0.16289	0.015	T	0.82458	-0.0447	10	0.36615	T	0.2	-20.5426	12.6606	0.56811	0.0854:0.0:0.9146:0.0	.	269	Q92743	HTRA1_HUMAN	H	269;236;10	ENSP00000357980:R269H;ENSP00000412676:R10H	ENSP00000357980:R269H	R	+	2	0	HTRA1	124256225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.434000	0.66526	2.456000	0.83038	0.655000	0.94253	CGC	HTRA1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	ENSG00000166033		0.557	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA1	HGNC	protein_coding	OTTHUMT00000128327.1	39	0.00	0	G	NM_002775		124266235	124266235	+1	no_errors	ENST00000368984	ensembl	human	known	69_37n	missense	34	55.84	43	SNP	1.000	A
ICA1L	130026	genome.wustl.edu	37	2	203676513	203676513	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:203676513C>T	ENST00000392237.2	-	10	1024		c.e10-1		ICA1L_ENST00000358299.2_Splice_Site	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like											breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAAAACTAGCCTGAAGTAAAA	0.279																																						dbGAP											0													76.0	87.0	84.0					2																	203676513		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB053317	CCDS2354.1, CCDS74632.1	2q33	2008-02-05	2006-05-26	2006-05-26	ENSG00000163596	ENSG00000163596			14442	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 15"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 14"""	ALS2CR15, ALS2CR14		11586298	Standard	NM_138468		Approved		uc002uzh.1	Q8NDH6	OTTHUMG00000132856	ENST00000392237.2:c.867-1G>A	2.37:g.203676513C>T			B3KRW6|Q53P45|Q53QZ4|Q53T97|Q96N47|Q96Q32|Q9BVQ2	Splice_Site	SNP	-	e8-1	ENST00000392237.2	37	c.867-1	CCDS2354.1	2	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640034	0.47153	.	.	ENSG00000163596	ENST00000392237;ENST00000358299	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3794	0.74641	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ICA1L	203384758	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	4.194000	0.58393	2.773000	0.95371	0.591000	0.81541	.	ICA1L	-	-	ENSG00000163596		0.279	ICA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICA1L	HGNC	protein_coding	OTTHUMT00000256330.1	359	0.00	0	C	NM_138468	Intron	203676513	203676513	-1	no_errors	ENST00000358299	ensembl	human	known	69_37n	splice_site	273	10.78	33	SNP	1.000	T
IDH3A	3419	genome.wustl.edu	37	15	78454029	78454029	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:78454029C>T	ENST00000299518.2	+	5	479	c.396C>T	c.(394-396)ggC>ggT	p.G132G	IDH3A_ENST00000561366.1_5'Flank|IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000441490.2_Silent_p.G23G|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000558554.1_Splice_Site_p.G97G	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	132					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12						CTATCGAAGGCTATAAAACCC	0.443																																						dbGAP											0													191.0	179.0	183.0					15																	78454029		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0				CCDS10297.1	15q25.1-q25.2	2008-07-18			ENSG00000166411	ENSG00000166411	1.1.1.41		5384	protein-coding gene	gene with protein product	"""H-IDH alpha"", ""isocitric dehydrogenase"", ""isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial"", ""NAD+-specific ICDH"", ""NAD(H)-specific isocitrate dehydrogenase alpha subunit"", ""isocitrate dehydrogenase (NAD+) alpha chain"""	601149				8833160	Standard	NM_005530		Approved		uc002bdd.3	P50213	OTTHUMG00000143732	ENST00000299518.2:c.396C>T	15.37:g.78454029C>T			D3DW83|Q9H3X0	Silent	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.G132	ENST00000299518.2	37	c.396	CCDS10297.1	15																																																																																			IDH3A	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	ENSG00000166411		0.443	IDH3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3A	HGNC	protein_coding	OTTHUMT00000289799.4	188	0.00	0	C	NM_005530		78454029	78454029	+1	no_errors	ENST00000299518	ensembl	human	known	69_37n	silent	191	13.57	30	SNP	1.000	T
IDH3G	3421	genome.wustl.edu	37	X	153055739	153055739	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:153055739G>A	ENST00000217901.5	-	4	340	c.144C>T	c.(142-144)tcC>tcT	p.S48S	IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370092.3_Silent_p.S48S|IDH3G_ENST00000370093.1_Silent_p.S48S|IDH3G_ENST00000427365.2_5'UTR	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	48					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CATACTTAGCGGACGGAGGCT	0.632																																						dbGAP											0													62.0	54.0	57.0					X																	153055739		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.144C>T	X.37:g.153055739G>A			E9PDD5|Q9BUU5	Silent	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.S48	ENST00000217901.5	37	c.144	CCDS14730.1	X																																																																																			IDH3G	-	NULL	ENSG00000067829		0.632	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3G	HGNC	protein_coding	OTTHUMT00000061084.27	24	0.00	0	G			153055739	153055739	-1	no_errors	ENST00000217901	ensembl	human	known	69_37n	silent	25	30.56	11	SNP	0.102	A
IFI44	10561	genome.wustl.edu	37	1	79125142	79125142	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:79125142G>A	ENST00000370747.4	+	6	1071	c.986G>A	c.(985-987)aGa>aAa	p.R329K	IFI44_ENST00000545124.1_Missense_Mutation_p.R46K|IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	329					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAGATCAAAAGAATTCGAAGG	0.393																																						dbGAP											0													89.0	82.0	84.0					1																	79125142		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.986G>A	1.37:g.79125142G>A	ENSP00000359783:p.Arg329Lys		B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	pfam_TLDc	p.R329K	ENST00000370747.4	37	c.986	CCDS688.1	1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.308989	0.01342	.	.	ENSG00000137965	ENST00000370747;ENST00000545124	T	0.32515	1.45	3.81	-0.542	0.11854	.	0.842254	0.10865	N	0.625665	T	0.02571	0.0078	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.30021	0.265;0.053;0.027	B;B;B	0.30251	0.113;0.016;0.006	T	0.41645	-0.9497	10	0.06365	T	0.9	-3.6595	4.0631	0.09847	0.4718:0.1851:0.3431:0.0	.	329;329;329	B4DYN8;B7ZB11;Q8TCB0	.;.;IFI44_HUMAN	K	329;46	ENSP00000359783:R329K	ENSP00000359783:R329K	R	+	2	0	IFI44	78897730	0.006000	0.16342	0.003000	0.11579	0.017000	0.09413	0.002000	0.13061	-0.090000	0.12462	0.404000	0.27445	AGA	IFI44	-	NULL	ENSG00000137965		0.393	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1	83	0.00	0	G	NM_006417		79125142	79125142	+1	no_errors	ENST00000370747	ensembl	human	known	69_37n	missense	60	20.00	15	SNP	0.004	A
IGDCC3	9543	genome.wustl.edu	37	15	65621902	65621902	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:65621902C>T	ENST00000327987.4	-	13	2282	c.2031G>A	c.(2029-2031)ctG>ctA	p.L677L	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	677					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTGGAGGGGACAGCTGGTTTT	0.607																																						dbGAP											0													44.0	51.0	49.0					15																	65621902		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2031G>A	15.37:g.65621902C>T			O95215	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L677	ENST00000327987.4	37	c.2031	CCDS10205.1	15																																																																																			IGDCC3	-	NULL	ENSG00000174498		0.607	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	46	0.00	0	C	NM_004884		65621902	65621902	-1	no_errors	ENST00000327987	ensembl	human	known	69_37n	silent	75	13.79	12	SNP	1.000	T
IGF1R	3480	genome.wustl.edu	37	15	99500505	99500505	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:99500505C>T	ENST00000268035.6	+	21	4549	c.3938C>T	c.(3937-3939)tCc>tTc	p.S1313F	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.S1312F	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1313					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCCTCGTCCTCCCTGCCACTG	0.667																																						dbGAP											0													37.0	41.0	40.0					15																	99500505		2197	4297	6494	-	-	-	SO:0001583	missense	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3938C>T	15.37:g.99500505C>T	ENSP00000268035:p.Ser1313Phe		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,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.S1313F	ENST00000268035.6	37	c.3938	CCDS10378.1	15	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846671	0.51164	.	.	ENSG00000140443	ENST00000268035	T	0.76578	-1.03	5.65	5.65	0.86999	.	0.219084	0.30890	N	0.008676	T	0.74718	0.3753	N	0.14661	0.345	0.33751	D	0.620655	B;B	0.33379	0.162;0.41	B;P	0.45232	0.084;0.474	T	0.80903	-0.1174	10	0.59425	D	0.04	.	19.7635	0.96333	0.0:1.0:0.0:0.0	.	1312;1313	C9J5X1;P08069	.;IGF1R_HUMAN	F	1313	ENSP00000268035:S1313F	ENSP00000268035:S1313F	S	+	2	0	IGF1R	97318028	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	5.176000	0.65026	2.669000	0.90835	0.552000	0.68991	TCC	IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt	ENSG00000140443		0.667	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	27	0.00	0	C	NM_000875		99500505	99500505	+1	no_errors	ENST00000268035	ensembl	human	known	69_37n	missense	39	15.22	7	SNP	0.998	T
IGF2R	3482	genome.wustl.edu	37	6	160494422	160494422	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:160494422G>A	ENST00000356956.1	+	34	5016	c.4868G>A	c.(4867-4869)aGg>aAg	p.R1623K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1623					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CCAACCAATAGGCCCATGCTC	0.577																																						dbGAP											0													146.0	117.0	127.0					6																	160494422		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.4868G>A	6.37:g.160494422G>A	ENSP00000349437:p.Arg1623Lys		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.R1623K	ENST00000356956.1	37	c.4868	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	G	5.889	0.348067	0.11126	.	.	ENSG00000197081	ENST00000356956	T	0.11063	2.81	5.3	3.11	0.35812	Mannose-6-phosphate receptor, binding (1);	0.392219	0.29218	N	0.012788	T	0.00845	0.0028	N	0.02213	-0.635	0.25757	N	0.984989	B	0.06786	0.001	B	0.12837	0.008	T	0.47100	-0.9143	10	0.07813	T	0.8	-11.7364	4.2959	0.10901	0.465:0.0:0.535:0.0	.	1623	P11717	MPRI_HUMAN	K	1623	ENSP00000349437:R1623K	ENSP00000349437:R1623K	R	+	2	0	IGF2R	160414412	0.074000	0.21230	0.999000	0.59377	0.117000	0.20001	0.171000	0.16685	1.371000	0.46172	0.561000	0.74099	AGG	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.577	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	63	0.00	0	G	NM_000876		160494422	160494422	+1	no_errors	ENST00000356956	ensembl	human	known	69_37n	missense	108	19.40	26	SNP	0.774	A
IGF2R	3482	genome.wustl.edu	37	6	160510202	160510202	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:160510202G>A	ENST00000356956.1	+	43	6532	c.6384G>A	c.(6382-6384)aaG>aaA	p.K2128K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	2128					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCGCCGTGAAGCCTCAGGAGG	0.507																																						dbGAP											0													67.0	62.0	64.0					6																	160510202		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.6384G>A	6.37:g.160510202G>A			Q7Z7G9|Q96PT5	Silent	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.K2128	ENST00000356956.1	37	c.6384	CCDS5273.1	6																																																																																			IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.507	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	54	0.00	0	G	NM_000876		160510202	160510202	+1	no_errors	ENST00000356956	ensembl	human	known	69_37n	silent	53	20.90	14	SNP	1.000	A
IGFN1	91156	genome.wustl.edu	37	1	201196159	201196159	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:201196159A>T	ENST00000335211.4	+	23	11066	c.10936A>T	c.(10936-10938)Acc>Tcc	p.T3646S	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	1189						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCCCACGTCACCTGGTTCAA	0.677																																						dbGAP											0													64.0	52.0	56.0					1																	201196159		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.10936A>T	1.37:g.201196159A>T	ENSP00000334714:p.Thr3646Ser		F8WAI1|Q9NT72	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.T3646S	ENST00000335211.4	37	c.10936	CCDS53455.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.35|19.35	3.809909|3.809909	0.70797|0.70797	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211	.|T	.|0.64085	.|-0.08	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.124558	.|0.53938	.|N	.|0.000044	T|T	0.70675|0.70675	0.3251|0.3251	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	.|P	.|0.44044	.|0.825	.|P	.|0.56343	.|0.796	T|T	0.72481|0.72481	-0.4280|-0.4280	5|10	.|0.56958	.|D	.|0.05	.|.	12.5553|12.5553	0.56250|0.56250	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3646	.|F8WAI1	.|.	L|S	1063|3646	.|ENSP00000334714:T3646S	.|ENSP00000334714:T3646S	H|T	+|+	2|1	0|0	IGFN1|IGFN1	199462782|199462782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.931000|0.931000	0.56810|0.56810	5.292000|5.292000	0.65673|0.65673	1.912000|1.912000	0.55364|0.55364	0.459000|0.459000	0.35465|0.35465	CAC|ACC	IGFN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000163395		0.677	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		42	0.00	0	A	NM_178275		201196159	201196159	+1	no_errors	ENST00000335211	ensembl	human	known	69_37n	missense	26	53.57	30	SNP	1.000	T
IGSF9B	22997	genome.wustl.edu	37	11	133790401	133790401	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:133790401C>T	ENST00000321016.8	-	18	3449	c.3219G>A	c.(3217-3219)aaG>aaA	p.K1073K	IGSF9B_ENST00000533871.2_Silent_p.K1073K			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1073	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGAGGCCGGCCTTGGGCTGCA	0.701																																						dbGAP											0													26.0	32.0	30.0					11																	133790401		1946	4129	6075	-	-	-	SO:0001819	synonymous_variant	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3219G>A	11.37:g.133790401C>T			G5EA26	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K1073	ENST00000321016.8	37	c.3219		11																																																																																			IGSF9B	-	NULL	ENSG00000080854		0.701	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		17	0.00	0	C	XM_290502		133790401	133790401	-1	no_errors	ENST00000321016	ensembl	human	known	69_37n	silent	28	33.33	14	SNP	0.979	T
IGSF9B	22997	genome.wustl.edu	37	11	133790814	133790814	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:133790814C>T	ENST00000321016.8	-	18	3036	c.2806G>A	c.(2806-2808)Ggg>Agg	p.G936R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G936R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	936	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCCTCCAGCCCGCGGGGCTGG	0.687																																						dbGAP											0													25.0	30.0	29.0					11																	133790814		1849	4065	5914	-	-	-	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2806G>A	11.37:g.133790814C>T	ENSP00000317980:p.Gly936Arg		G5EA26	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_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G936R	ENST00000321016.8	37	c.2806		11	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150623	0.37923	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.65916	0.16;-0.18	4.27	3.35	0.38373	.	0.000000	0.45606	D	0.000356	T	0.42539	0.1207	N	0.14661	0.345	0.34524	D	0.708465	D	0.60575	0.988	B	0.41723	0.365	T	0.57837	-0.7742	10	0.51188	T	0.08	.	10.4915	0.44754	0.0:0.9073:0.0:0.0927	.	936	Q9UPX0	TUTLB_HUMAN	R	936;778	ENSP00000317980:G936R;ENSP00000436552:G778R	ENSP00000317980:G936R	G	-	1	0	IGSF9B	133296024	1.000000	0.71417	0.760000	0.31359	0.948000	0.59901	5.043000	0.64208	1.004000	0.39156	0.561000	0.74099	GGG	IGSF9B	-	NULL	ENSG00000080854		0.687	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		28	0.00	0	C	XM_290502		133790814	133790814	-1	no_errors	ENST00000321016	ensembl	human	known	69_37n	missense	31	39.22	20	SNP	0.995	T
IKZF1	10320	genome.wustl.edu	37	7	50467705	50467705	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:50467705G>A	ENST00000331340.3	+	8	1095	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	IKZF1_ENST00000343574.5_Missense_Mutation_p.A227T|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000349824.4_Missense_Mutation_p.A171T|IKZF1_ENST00000346667.4_Missense_Mutation_p.A84T|IKZF1_ENST00000359197.5_Missense_Mutation_p.A272T|IKZF1_ENST00000357364.4_Missense_Mutation_p.A227T|IKZF1_ENST00000439701.1_Missense_Mutation_p.A272T|IKZF1_ENST00000438033.1_Missense_Mutation_p.A227T	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	314					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GATGGACCAAGCCATCAACAA	0.637			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	dbGAP		"""Rec,Dom"""	yes		7	7p12.2	10320	IKAROS family zinc finger 1		L	28	Unknown(28)	haematopoietic_and_lymphoid_tissue(28)											33.0	35.0	34.0					7																	50467705		2129	4261	6390	-	-	-	SO:0001583	missense	0			U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.940G>A	7.37:g.50467705G>A	ENSP00000331614:p.Ala314Thr		A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A314T	ENST00000331340.3	37	c.940		7	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216322	0.79352	.	.	ENSG00000185811	ENST00000346667;ENST00000343574;ENST00000359197;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000438033;ENST00000439701;ENST00000426121	T;T;T;T;T;T;T;T	0.08008	4.08;3.14;3.18;3.87;3.26;3.18;3.14;3.18	5.2	5.2	0.72013	.	0.048929	0.85682	D	0.000000	T	0.31482	0.0798	.	.	.	0.80722	D	1	D;P;P;P;D	0.71674	0.998;0.75;0.828;0.828;0.997	D;B;B;P;D	0.87578	0.998;0.271;0.365;0.54;0.996	T	0.01661	-1.1301	9	0.56958	D	0.05	-13.437	19.0959	0.93251	0.0:0.0:1.0:0.0	.	227;84;227;272;314	Q13422-2;Q13422-6;Q13422-3;Q13422-7;Q13422	.;.;.;.;IKZF1_HUMAN	T	84;227;272;171;227;314;227;272;67	ENSP00000340080:A84T;ENSP00000342750:A227T;ENSP00000352123:A272T;ENSP00000342485:A171T;ENSP00000349928:A227T;ENSP00000331614:A314T;ENSP00000396554:A227T;ENSP00000413025:A272T	ENSP00000331614:A314T	A	+	1	0	IKZF1	50435199	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.620000	0.67736	2.591000	0.87537	0.650000	0.86243	GCC	IKZF1	-	NULL	ENSG00000185811		0.637	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	IKZF1	HGNC	protein_coding	OTTHUMT00000342242.1	41	0.00	0	G	NM_006060		50467705	50467705	+1	no_errors	ENST00000331340	ensembl	human	known	69_37n	missense	29	12.12	4	SNP	1.000	A
IFNLR1	163702	genome.wustl.edu	37	1	24484275	24484275	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:24484275C>T	ENST00000327535.1	-	7	920	c.908G>A	c.(907-909)aGg>aAg	p.R303K	IFNLR1_ENST00000327575.2_3'UTR|IFNLR1_ENST00000374421.3_Missense_Mutation_p.R274K	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	303					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											AGGCGTCGGCCTGACCCCTCT	0.572																																						dbGAP											0													127.0	131.0	130.0					1																	24484275		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.908G>A	1.37:g.24484275C>T	ENSP00000327824:p.Arg303Lys		Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.R303K	ENST00000327535.1	37	c.908	CCDS248.1	1	.	.	.	.	.	.	.	.	.	.	C	9.759	1.169672	0.21621	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.26	-5.36	0.02689	.	1.573200	0.03483	N	0.215364	T	0.30854	0.0778	L	0.58101	1.795	0.09310	N	1	B;B	0.12630	0.006;0.001	B;B	0.12156	0.005;0.007	T	0.12372	-1.0550	9	0.15066	T	0.55	-2.0583	1.9132	0.03291	0.1254:0.1762:0.2476:0.4509	.	303;274	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	K	303;274	.	ENSP00000327824:R303K	R	-	2	0	IL28RA	24356862	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.293000	0.08320	-0.855000	0.04125	0.655000	0.94253	AGG	IL28RA	-	NULL	ENSG00000185436		0.572	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL28RA	HGNC	protein_coding	OTTHUMT00000008402.1	304	0.00	0	C	NM_170743		24484275	24484275	-1	no_errors	ENST00000327535	ensembl	human	known	69_37n	missense	131	13.25	20	SNP	0.000	T
IL4R	3566	genome.wustl.edu	37	16	27374933	27374933	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:27374933C>T	ENST00000395762.2	+	11	2519	c.2260C>T	c.(2260-2262)Ccc>Tcc	p.P754S	IL4R_ENST00000170630.2_Missense_Mutation_p.P754S|IL4R_ENST00000543915.2_Missense_Mutation_p.P754S|IL4R_ENST00000380922.3_Missense_Mutation_p.P739S	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	754					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CAGGTCCTCGCCCCCTACAAC	0.662																																						dbGAP											0													32.0	35.0	34.0					16																	27374933		2197	4300	6497	-	-	-	SO:0001583	missense	0			X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.2260C>T	16.37:g.27374933C>T	ENSP00000379111:p.Pro754Ser		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.P754S	ENST00000395762.2	37	c.2260	CCDS10629.1	16	.	.	.	.	.	.	.	.	.	.	C	9.529	1.110430	0.20714	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.10192	2.9;2.9;2.9;2.9	4.91	2.89	0.33648	.	0.846346	0.10182	N	0.705711	T	0.07683	0.0193	L	0.38175	1.15	0.09310	N	1	P;P;P	0.43857	0.819;0.819;0.819	B;B;B	0.35813	0.211;0.211;0.211	T	0.26292	-1.0107	10	0.23302	T	0.38	-27.675	7.5318	0.27687	0.0:0.781:0.0:0.219	.	739;754;754	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	S	754;754;739;754	ENSP00000379111:P754S;ENSP00000441667:P754S;ENSP00000370309:P739S;ENSP00000170630:P754S	ENSP00000170630:P754S	P	+	1	0	IL4R	27282434	0.003000	0.15002	0.056000	0.19401	0.122000	0.20287	0.884000	0.28214	1.169000	0.42739	0.591000	0.81541	CCC	IL4R	-	NULL	ENSG00000077238		0.662	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4R	HGNC	protein_coding	OTTHUMT00000214104.4	96	0.00	0	C			27374933	27374933	+1	no_errors	ENST00000170630	ensembl	human	known	69_37n	missense	37	19.15	9	SNP	0.012	T
INPP5F	22876	genome.wustl.edu	37	10	121565930	121565930	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:121565930G>A	ENST00000361976.2	+	12	1544	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	770	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TAATTGTATGGACTGCCTGGA	0.388																																						dbGAP											0													105.0	105.0	105.0					10																	121565930		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1378G>A	10.37:g.121565930G>A	ENSP00000354519:p.Asp460Asn		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.D460N	ENST00000361976.2	37	c.1378	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.727570	0.96847	.	.	ENSG00000198825	ENST00000361976	T	0.27402	1.67	5.5	5.5	0.81552	Synaptojanin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72922	0.3521	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83944	0.0313	10	0.87932	D	0	-24.9816	19.425	0.94737	0.0:0.0:1.0:0.0	.	460	Q9Y2H2	SAC2_HUMAN	N	460	ENSP00000354519:D460N	ENSP00000354519:D460N	D	+	1	0	INPP5F	121555920	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.682000	0.98655	2.584000	0.87258	0.563000	0.77884	GAC	INPP5F	-	pfscan_Syja_N	ENSG00000198825		0.388	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	57	0.00	0	G	NM_014937		121565930	121565930	+1	no_errors	ENST00000361976	ensembl	human	known	69_37n	missense	46	20.69	12	SNP	1.000	A
IP6K1	9807	genome.wustl.edu	37	3	49764589	49764589	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:49764589C>A	ENST00000321599.4	-	6	1593	c.1292G>T	c.(1291-1293)aGc>aTc	p.S431I	IP6K1_ENST00000460540.1_Missense_Mutation_p.S266I|IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000395238.1_Missense_Mutation_p.S266I	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	431					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						TTCCATGATGCTGATGAGGTT	0.567																																						dbGAP											0													70.0	68.0	69.0					3																	49764589		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.1292G>T	3.37:g.49764589C>A	ENSP00000323780:p.Ser431Ile		A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	pfam_IPK	p.S431I	ENST00000321599.4	37	c.1292	CCDS33760.1	3	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287958	0.40494	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000460540	T;T;T	0.19250	2.16;2.16;2.16	5.66	4.74	0.60224	.	0.205916	0.52532	D	0.000076	T	0.18509	0.0444	L	0.46819	1.47	0.35553	D	0.804048	B	0.25169	0.119	B	0.30495	0.116	T	0.15150	-1.0447	10	0.44086	T	0.13	-23.3847	5.859	0.18736	0.0:0.6191:0.2004:0.1805	.	431	Q92551	IP6K1_HUMAN	I	431;266;266	ENSP00000323780:S431I;ENSP00000378659:S266I;ENSP00000420762:S266I	ENSP00000323780:S431I	S	-	2	0	IP6K1	49739593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.670000	0.46833	2.685000	0.91497	0.591000	0.81541	AGC	IP6K1	-	pfam_IPK	ENSG00000176095		0.567	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K1	HGNC	protein_coding	OTTHUMT00000350380.1	32	0.00	0	C	NM_153273		49764589	49764589	-1	no_errors	ENST00000321599	ensembl	human	known	69_37n	missense	44	12.00	6	SNP	1.000	A
IP6K3	117283	genome.wustl.edu	37	6	33694578	33694578	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:33694578C>T	ENST00000293756.4	-	4	845	c.519G>A	c.(517-519)ccG>ccA	p.P173P	IP6K3_ENST00000451316.1_Silent_p.P173P	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	173					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GCAGGCCCCACGGGTTGAAGC	0.607																																						dbGAP											0													95.0	85.0	88.0					6																	33694578		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.519G>A	6.37:g.33694578C>T			Q96MQ9	Silent	SNP	pfam_IPK	p.P173	ENST00000293756.4	37	c.519	CCDS34435.1	6																																																																																			IP6K3	-	NULL	ENSG00000161896		0.607	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K3	HGNC	protein_coding	OTTHUMT00000040203.1	37	0.00	0	C	NM_054111		33694578	33694578	-1	no_errors	ENST00000293756	ensembl	human	known	69_37n	silent	51	12.07	7	SNP	0.007	T
ISG20L2	81875	genome.wustl.edu	37	1	156693082	156693082	+	3'UTR	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:156693082G>A	ENST00000313146.6	-	0	1903				ISG20L2_ENST00000472824.2_5'UTR|ISG20L2_ENST00000368219.1_3'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2						ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTGGTCCACTGCCCTGTTTCT	0.547																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.*59C>T	1.37:g.156693082G>A			D3DVC6|Q64KA2	RNA	SNP	-	NULL	ENST00000313146.6	37	NULL	CCDS1153.1	1																																																																																			ISG20L2	-	-	ENSG00000143319		0.547	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISG20L2	HGNC	protein_coding	OTTHUMT00000098969.1	114	0.00	0	G	NM_030980		156693082	156693082	-1	no_errors	ENST00000472824	ensembl	human	known	69_37n	rna	104	32.47	50	SNP	0.002	A
ISM1	140862	genome.wustl.edu	37	20	13279837	13279837	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:13279837G>A	ENST00000262487.4	+	6	1132	c.1126G>A	c.(1126-1128)Gag>Aag	p.E376K	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	376	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCTGTCCCTGGAGAGCACCAC	0.652																																						dbGAP											0													24.0	28.0	27.0					20																	13279837		2166	4273	6439	-	-	-	SO:0001583	missense	0			AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1126G>A	20.37:g.13279837G>A	ENSP00000262487:p.Glu376Lys		Q8WVH9	Missense_Mutation	SNP	pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt	p.E376K	ENST00000262487.4	37	c.1126	CCDS46579.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.520822	0.96416	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.47869	0.83;0.84	5.88	5.88	0.94601	AMOP (3);	0.000000	0.85682	D	0.000000	T	0.67344	0.2883	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.66941	-0.5796	10	0.72032	D	0.01	-8.0763	20.2133	0.98290	0.0:0.0:1.0:0.0	.	376	B1AKI9	ISM1_HUMAN	K	376;330	ENSP00000262487:E376K;ENSP00000409938:E330K	ENSP00000262487:E376K	E	+	1	0	ISM1	13227837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.786000	0.95864	0.655000	0.94253	GAG	ISM1	-	pfam_AMOP,smart_AMOP,pfscan_AMOP	ENSG00000101230		0.652	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISM1	HGNC	protein_coding	OTTHUMT00000078039.2	39	0.00	0	G			13279837	13279837	+1	no_errors	ENST00000262487	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	1.000	A
ITFG2	55846	genome.wustl.edu	37	12	2927377	2927377	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:2927377G>A	ENST00000228799.2	+	4	479	c.340G>A	c.(340-342)Gag>Aag	p.E114K	ITFG2_ENST00000542548.1_5'UTR|ITFG2_ENST00000419778.2_Intron	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	114					germinal center B cell differentiation (GO:0002314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AATCGGAGAGGAGCAGCGTCC	0.557																																						dbGAP											0													170.0	138.0	149.0					12																	2927377		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF220048	CCDS8513.1	12p13.33	2006-11-29		2006-07-25	ENSG00000111203	ENSG00000111203			30879	protein-coding gene	gene with protein product						12477932	Standard	NM_018463		Approved	MDS028	uc001qlb.2	Q969R8	OTTHUMG00000130617	ENST00000228799.2:c.340G>A	12.37:g.2927377G>A	ENSP00000228799:p.Glu114Lys		A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	pfam_FG-GAP,superfamily_WD40_repeat_dom	p.E114K	ENST00000228799.2	37	c.340	CCDS8513.1	12	.	.	.	.	.	.	.	.	.	.	G	18.10	3.549035	0.65311	.	.	ENSG00000111203	ENST00000228799	T	0.70869	-0.52	4.69	4.69	0.59074	.	0.154971	0.56097	D	0.000023	T	0.65668	0.2713	L	0.53729	1.69	0.80722	D	1	P;P	0.42871	0.792;0.792	B;B	0.37731	0.257;0.257	T	0.67428	-0.5673	10	0.33141	T	0.24	0.7138	16.7762	0.85551	0.0:0.0:1.0:0.0	.	114;114	Q969R8;Q6PKU5	ITFG2_HUMAN;.	K	114	ENSP00000228799:E114K	ENSP00000228799:E114K	E	+	1	0	ITFG2	2797638	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	9.218000	0.95166	2.430000	0.82344	0.655000	0.94253	GAG	ITFG2	-	superfamily_WD40_repeat_dom	ENSG00000111203		0.557	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG2	HGNC	protein_coding	OTTHUMT00000253091.1	55	0.00	0	G	NM_018463		2927377	2927377	+1	no_errors	ENST00000228799	ensembl	human	known	69_37n	missense	110	65.42	210	SNP	1.000	A
ITGB4	3691	genome.wustl.edu	37	17	73727382	73727382	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:73727382C>T	ENST00000200181.3	+	10	1335	c.1148C>T	c.(1147-1149)aCa>aTa	p.T383I	ITGB4_ENST00000450894.3_Missense_Mutation_p.T383I|ITGB4_ENST00000339591.3_Missense_Mutation_p.T383I|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000579662.1_Missense_Mutation_p.T383I|ITGB4_ENST00000449880.2_Missense_Mutation_p.T383I	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	383					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCTTCGGACAGAGGTCACC	0.637																																						dbGAP											0													64.0	59.0	61.0					17																	73727382		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1148C>T	17.37:g.73727382C>T	ENSP00000200181:p.Thr383Ile		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_Integrin_bsu	p.T383I	ENST00000200181.3	37	c.1148	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993331	0.35131	.	.	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.91011	-2.77;-2.77;-2.77	4.97	4.97	0.65823	Integrin beta subunit, N-terminal (2);	0.128504	0.52532	D	0.000063	D	0.87446	0.6179	N	0.13352	0.335	0.43657	D	0.996073	B;D;P;D	0.59357	0.011;0.962;0.9;0.985	B;P;P;P	0.56398	0.03;0.621;0.632;0.797	D	0.86045	0.1522	10	0.30854	T	0.27	.	11.7141	0.51641	0.0:0.9184:0.0:0.0816	.	383;383;383;383	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	I	299;383;383;383	ENSP00000200181:T383I;ENSP00000344079:T383I;ENSP00000400217:T383I	ENSP00000200181:T383I	T	+	2	0	ITGB4	71238977	0.964000	0.33143	1.000000	0.80357	0.834000	0.47266	2.137000	0.42130	2.294000	0.77228	0.455000	0.32223	ACA	ITGB4	-	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,smart_Integrin_bsu_N	ENSG00000132470		0.637	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	18	0.00	0	C			73727382	73727382	+1	no_errors	ENST00000200181	ensembl	human	known	69_37n	missense	3	57.14	4	SNP	0.976	T
ITGB7	3695	genome.wustl.edu	37	12	53587546	53587546	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:53587546G>A	ENST00000267082.5	-	11	1679	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L	ITGB7_ENST00000422257.3_Missense_Mutation_p.P483L|ITGB7_ENST00000338737.4_Missense_Mutation_p.P483L|ITGB7_ENST00000550743.2_Missense_Mutation_p.P483L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	483	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|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)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGGAGCCTGGGGCTGGGTGTC	0.592																																						dbGAP											0													88.0	70.0	76.0					12																	53587546		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1448C>T	12.37:g.53587546G>A	ENSP00000267082:p.Pro483Leu		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.P483L	ENST00000267082.5	37	c.1448	CCDS8849.1	12	.	.	.	.	.	.	.	.	.	.	G	0.527	-0.859692	0.02610	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.91464	-2.77;-2.77;-2.85	4.67	-0.964	0.10326	.	1.174270	0.06430	N	0.723981	D	0.84397	0.5463	L	0.35487	1.065	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.69038	-0.5251	10	0.36615	T	0.2	.	9.1114	0.36730	0.6409:0.0:0.3591:0.0	.	483	P26010	ITB7_HUMAN	L	483	ENSP00000408741:P483L;ENSP00000267082:P483L;ENSP00000345501:P483L	ENSP00000267082:P483L	P	-	2	0	ITGB7	51873813	0.001000	0.12720	0.588000	0.28705	0.084000	0.17831	-0.137000	0.10389	-0.050000	0.13356	-0.140000	0.14226	CCC	ITGB7	-	pirsf_Integrin_bsu	ENSG00000139626		0.592	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	HGNC	protein_coding	OTTHUMT00000405821.2	43	0.00	0	G			53587546	53587546	-1	no_errors	ENST00000267082	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.006	A
ITIH1	3697	genome.wustl.edu	37	3	52814297	52814297	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:52814297A>C	ENST00000273283.2	+	6	610	c.586A>C	c.(586-588)Atc>Ctc	p.I196L	ITIH1_ENST00000487686.1_3'UTR|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000540715.1_Missense_Mutation_p.I54L|ITIH1_ENST00000542827.1_Missense_Mutation_p.I196L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	196					hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGATGTGGACATCTTCGAGCC	0.473																																						dbGAP											0													37.0	38.0	37.0					3																	52814297		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.586A>C	3.37:g.52814297A>C	ENSP00000273283:p.Ile196Leu		A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.I196L	ENST00000273283.2	37	c.586	CCDS2864.1	3	.	.	.	.	.	.	.	.	.	.	A	28.6	4.937855	0.92526	.	.	ENSG00000055957	ENST00000542827;ENST00000273283;ENST00000540715	T;T;T	0.04917	3.53;3.98;3.68	6.07	6.07	0.98685	.	0.049614	0.85682	D	0.000000	T	0.29190	0.0726	M	0.86178	2.8	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.02639	-1.1130	10	0.66056	D	0.02	-38.7858	14.8705	0.70453	1.0:0.0:0.0:0.0	.	196	P19827	ITIH1_HUMAN	L	196;196;54	ENSP00000442584:I196L;ENSP00000273283:I196L;ENSP00000443973:I54L	ENSP00000273283:I196L	I	+	1	0	ITIH1	52789337	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	5.964000	0.70379	2.326000	0.78906	0.533000	0.62120	ATC	ITIH1	-	NULL	ENSG00000055957		0.473	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	30	0.00	0	A	NM_002215		52814297	52814297	+1	no_errors	ENST00000273283	ensembl	human	known	69_37n	missense	22	45.00	18	SNP	1.000	C
ITIH2	3698	genome.wustl.edu	37	10	7786202	7786202	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:7786202C>T	ENST00000358415.4	+	18	2533	c.2367C>T	c.(2365-2367)ttC>ttT	p.F789F	ITIH2_ENST00000379587.4_Silent_p.F778F	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	789					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CTAGCACATTCTCCTTGTCCT	0.443																																						dbGAP											0													135.0	113.0	120.0					10																	7786202		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.2367C>T	10.37:g.7786202C>T			Q14659|Q15484|Q5T986	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.F789	ENST00000358415.4	37	c.2367	CCDS31141.1	10																																																																																			ITIH2	-	pfam_ITI_HC_C	ENSG00000151655		0.443	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	127	0.00	0	C	NM_002216		7786202	7786202	+1	no_errors	ENST00000358415	ensembl	human	known	69_37n	silent	87	12.12	12	SNP	0.000	T
IYD	389434	genome.wustl.edu	37	6	150719277	150719277	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:150719277G>A	ENST00000344419.3	+	5	914	c.774G>A	c.(772-774)aaG>aaA	p.K258K	IYD_ENST00000229447.5_3'UTR	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	258					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	iodide peroxidase activity (GO:0004447)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		CACATGAAAAGCTGCTGATGC	0.587																																						dbGAP											0													74.0	72.0	73.0					6																	150719277		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765			21071	protein-coding gene	gene with protein product		612025	"""chromosome 6 open reading frame 71"""	C6orf71		16316988, 15289438	Standard	NM_001164694		Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.774G>A	6.37:g.150719277G>A			C9JFW2|Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	Silent	SNP	pfam_Nitroreductase-like,superfamily_Nitroreductase-like	p.K258	ENST00000344419.3	37	c.774	CCDS5227.1	6																																																																																			IYD	-	pfam_Nitroreductase-like,superfamily_Nitroreductase-like	ENSG00000009765		0.587	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IYD	HGNC	protein_coding	OTTHUMT00000043754.3	113	0.00	0	G	NM_203395		150719277	150719277	+1	no_errors	ENST00000344419	ensembl	human	known	69_37n	silent	122	10.95	15	SNP	1.000	A
JAK1	3716	genome.wustl.edu	37	1	65323391	65323391	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:65323391C>T	ENST00000342505.4	-	10	1654	c.1406G>A	c.(1405-1407)tGc>tAc	p.C469Y		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	469	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)	AAAGTCGGTGCAGCTCCACCT	0.522			Mis		ALL																																	dbGAP		Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													119.0	123.0	122.0					1																	65323391		2114	4234	6348	-	-	-	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.1406G>A	1.37:g.65323391C>T	ENSP00000343204:p.Cys469Tyr		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.C469Y	ENST00000342505.4	37	c.1406	CCDS41346.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758682	0.89843	.	.	ENSG00000162434	ENST00000342505	T	0.55930	0.49	4.92	4.92	0.64577	SH2 motif (3);	.	.	.	.	T	0.65312	0.2679	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.66444	-0.5922	9	0.62326	D	0.03	-5.7761	18.6976	0.91607	0.0:1.0:0.0:0.0	.	469	P23458	JAK1_HUMAN	Y	469	ENSP00000343204:C469Y	ENSP00000343204:C469Y	C	-	2	0	JAK1	65095979	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.465000	0.66725	2.724000	0.93272	0.561000	0.74099	TGC	JAK1	-	pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,smart_SH2,pfscan_SH2	ENSG00000162434		0.522	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	74	0.00	0	C	NM_002227		65323391	65323391	-1	no_errors	ENST00000342505	ensembl	human	known	69_37n	missense	69	29.59	29	SNP	1.000	T
KANK1	23189	genome.wustl.edu	37	9	732604	732604	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:732604G>A	ENST00000382303.1	+	10	3884	c.3232G>A	c.(3232-3234)Gaa>Aaa	p.E1078K	KANK1_ENST00000382297.2_Missense_Mutation_p.E1078K|KANK1_ENST00000382293.3_Missense_Mutation_p.E920K|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1078					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGAGAAGGTGGAAATCAGAGA	0.468																																						dbGAP											0													174.0	154.0	161.0					9																	732604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3232G>A	9.37:g.732604G>A	ENSP00000371740:p.Glu1078Lys		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1078K	ENST00000382303.1	37	c.3232	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340793	0.81911	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289	T;T;T	0.16324	2.35;2.35;2.35	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000017	T	0.19725	0.0474	L	0.50333	1.59	0.80722	D	1	B;B	0.33266	0.079;0.404	B;B	0.32533	0.023;0.147	T	0.03717	-1.1010	10	0.16420	T	0.52	-0.5689	20.1802	0.98196	0.0:0.0:1.0:0.0	.	101;1078	F5H7I5;Q14678	.;KANK1_HUMAN	K	1078;101;1078;920;33	ENSP00000371740:E1078K;ENSP00000371734:E1078K;ENSP00000371730:E920K	ENSP00000371726:E33K	E	+	1	0	KANK1	722604	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.581000	0.90788	2.777000	0.95525	0.655000	0.94253	GAA	KANK1	-	NULL	ENSG00000107104		0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	171	0.00	0	G	NM_015158		732604	732604	+1	no_errors	ENST00000382297	ensembl	human	known	69_37n	missense	171	35.71	95	SNP	1.000	A
KATNAL2	83473	genome.wustl.edu	37	18	44601736	44601736	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr18:44601736C>T	ENST00000592005.1	+	4	813	c.140C>T	c.(139-141)tCt>tTt	p.S47F	KATNAL2_ENST00000356157.7_Missense_Mutation_p.S366F|RP11-49K24.4_ENST00000592747.1_RNA|KATNAL2_ENST00000245121.5_Missense_Mutation_p.S294F					katanin p60 subunit A-like 2											central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						GGCACAGCTTCTGGGTAACAG	0.512																																						dbGAP											0													103.0	81.0	88.0					18																	44601736		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034999	CCDS32828.1	18q21.1	2010-04-21			ENSG00000167216	ENSG00000167216		"""ATPases / AAA-type"""	25387	protein-coding gene	gene with protein product		614697				12477932	Standard	NM_031303		Approved	MGC33211, DKFZP667C165	uc002lco.3	Q8IYT4		ENST00000592005.1:c.140C>T	18.37:g.44601736C>T	ENSP00000467610:p.Ser47Phe			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.S294F	ENST00000592005.1	37	c.881		18	.	.	.	.	.	.	.	.	.	.	C	8.469	0.857118	0.17106	.	.	ENSG00000167216	ENST00000356157;ENST00000245121;ENST00000454462	D;D	0.93953	-3.32;-3.32	4.8	2.97	0.34412	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.618162	0.16303	N	0.220358	D	0.87892	0.6292	L	0.46157	1.445	0.36967	D	0.893627	P;B	0.36222	0.544;0.034	B;B	0.28011	0.085;0.059	D	0.85603	0.1253	10	0.18710	T	0.47	.	11.9506	0.52952	0.0:0.85:0.0:0.15	.	134;366	F8WBL0;Q8IYT4	.;KATL2_HUMAN	F	366;294;134	ENSP00000348478:S366F;ENSP00000245121:S294F	ENSP00000245121:S294F	S	+	2	0	KATNAL2	42855734	0.090000	0.21635	1.000000	0.80357	0.762000	0.43233	1.636000	0.37144	1.150000	0.42419	0.491000	0.48974	TCT	KATNAL2	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase	ENSG00000167216		0.512	KATNAL2-008	PUTATIVE	basic|exp_conf	protein_coding	KATNAL2	HGNC	protein_coding	OTTHUMT00000446324.2	86	0.00	0	C	NM_031303		44601736	44601736	+1	no_errors	ENST00000245121	ensembl	human	known	69_37n	missense	34	59.04	49	SNP	0.992	T
KCNB2	9312	genome.wustl.edu	37	8	73849557	73849557	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:73849557G>A	ENST00000523207.1	+	3	2555	c.1967G>A	c.(1966-1968)aGa>aAa	p.R656K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	656					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	ACTCTATCCAGAGAGAAAGGA	0.577																																						dbGAP											0													47.0	50.0	49.0					8																	73849557		2203	4300	6503	-	-	-	SO:0001583	missense	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1967G>A	8.37:g.73849557G>A	ENSP00000430846:p.Arg656Lys		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,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_Kv8	p.R656K	ENST00000523207.1	37	c.1967	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.636366	0.00806	.	.	ENSG00000182674	ENST00000523207	T	0.20738	2.05	4.8	3.93	0.45458	.	1.283410	0.05698	N	0.593627	T	0.12390	0.0301	N	0.12961	0.28	0.24774	N	0.992855	B	0.15141	0.012	B	0.17098	0.017	T	0.29488	-1.0010	10	0.07175	T	0.84	.	7.8625	0.29517	0.2629:0.0:0.7371:0.0	.	656	Q92953	KCNB2_HUMAN	K	656	ENSP00000430846:R656K	ENSP00000430846:R656K	R	+	2	0	KCNB2	74012111	1.000000	0.71417	0.862000	0.33874	0.546000	0.35178	2.330000	0.43885	1.245000	0.43885	-0.216000	0.12614	AGA	KCNB2	-	pfam_K_chnl_volt-dep_Kv2	ENSG00000182674		0.577	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	149	0.00	0	G	NM_004770		73849557	73849557	+1	no_errors	ENST00000523207	ensembl	human	known	69_37n	missense	123	15.07	22	SNP	0.996	A
KCNC1	3746	genome.wustl.edu	37	11	17794025	17794025	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:17794025C>T	ENST00000379472.3	+	2	1414	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	KCNC1_ENST00000265969.6_Missense_Mutation_p.R462W	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	462					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)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	GCATATTCCGCGGCCACCGCA	0.488																																						dbGAP											0													48.0	56.0	53.0					11																	17794025		2200	4293	6493	-	-	-	SO:0001583	missense	0			M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1384C>T	11.37:g.17794025C>T	ENSP00000368785:p.Arg462Trp		K4DI87	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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.R462W	ENST00000379472.3	37	c.1384	CCDS7827.1	11	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099804	0.56183	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97455	-4.39;-4.39	5.24	4.26	0.50523	.	0.054356	0.64402	D	0.000001	D	0.97986	0.9337	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.76071	0.772;0.987	D	0.98537	1.0630	10	0.87932	D	0	.	14.9635	0.71174	0.192:0.808:0.0:0.0	.	462;462	Q3KNS8;P48547	.;KCNC1_HUMAN	W	462	ENSP00000265969:R462W;ENSP00000368785:R462W	ENSP00000265969:R462W	R	+	1	2	KCNC1	17750601	0.935000	0.31712	0.980000	0.43619	0.987000	0.75469	2.005000	0.40864	2.445000	0.82738	0.561000	0.74099	CGG	KCNC1	-	prints_K_chnl_volt-dep_Kv3	ENSG00000129159		0.488	KCNC1-001	KNOWN	basic|CCDS	protein_coding	KCNC1	HGNC	protein_coding	OTTHUMT00000389389.1	125	0.00	0	C	NM_004976		17794025	17794025	+1	no_errors	ENST00000265969	ensembl	human	known	69_37n	missense	82	12.77	12	SNP	0.994	T
KCNH5	27133	genome.wustl.edu	37	14	63246532	63246532	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:63246532C>T	ENST00000322893.7	-	10	2201	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	KCNH5_ENST00000394968.1_Missense_Mutation_p.A587T|KCNH5_ENST00000420622.2_Intron	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	645					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTGAGCAAGGCTTCCCGCTTG	0.483																																						dbGAP											0													124.0	117.0	120.0					14																	63246532		2203	4300	6503	-	-	-	SO:0001583	missense	0			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1933G>A	14.37:g.63246532C>T	ENSP00000321427:p.Ala645Thr		C9JP98	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS	p.A645T	ENST00000322893.7	37	c.1933	CCDS9756.1	14	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591224	0.86851	.	.	ENSG00000140015	ENST00000322893;ENST00000394968	D;D	0.92699	-3.09;-3.09	5.83	5.83	0.93111	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.93337	0.7876	L	0.37630	1.12	0.80722	D	1	P;D	0.60160	0.696;0.987	B;P	0.62298	0.358;0.9	D	0.91072	0.4893	10	0.25751	T	0.34	.	20.127	0.97984	0.0:1.0:0.0:0.0	.	587;645	Q8NCM2-3;Q8NCM2	.;KCNH5_HUMAN	T	645;587	ENSP00000321427:A645T;ENSP00000378419:A587T	ENSP00000321427:A645T	A	-	1	0	KCNH5	62316285	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.775000	0.95449	0.585000	0.79938	GCC	KCNH5	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000140015		0.483	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH5	HGNC	protein_coding	OTTHUMT00000411747.1	128	0.00	0	C	NM_139318		63246532	63246532	-1	no_errors	ENST00000322893	ensembl	human	known	69_37n	missense	120	14.29	20	SNP	1.000	T
RIMS4	140730	genome.wustl.edu	37	20	43378957	43378957	+	IGR	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:43378957G>A	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Silent_p.E157E	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGTCCACGGAGAACCTGGTGG	0.701																																						dbGAP											0													24.0	23.0	23.0					20																	43378957		2199	4297	6496	-	-	-	SO:0001628	intergenic_variant	0				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378957G>A			A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl	p.E157	ENST00000372851.3	37	c.471	CCDS13338.1	20																																																																																			KCNK15	-	pirsf_2pore_dom_K_chnl_TASK/TWIK	ENSG00000124249		0.701	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNK15	HGNC	protein_coding	OTTHUMT00000101027.2	12	0.00	0	G	NM_182970		43378957	43378957	+1	no_errors	ENST00000372861	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	1.000	A
KDM4A	9682	genome.wustl.edu	37	1	44134891	44134891	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:44134891G>A	ENST00000372396.3	+	10	1418	c.1284G>A	c.(1282-1284)acG>acA	p.T428T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	428					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						ATGAGATGACGGAGTGCCCGG	0.542																																						dbGAP											0													146.0	140.0	142.0					1																	44134891		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1284G>A	1.37:g.44134891G>A			Q5VVB1	Silent	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.T428	ENST00000372396.3	37	c.1284	CCDS491.1	1																																																																																			KDM4A	-	NULL	ENSG00000066135		0.542	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	167	0.00	0	G	NM_014663		44134891	44134891	+1	no_errors	ENST00000372396	ensembl	human	known	69_37n	silent	136	18.56	31	SNP	0.991	A
SPIDR	23514	genome.wustl.edu	37	8	48625314	48625314	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:48625314C>T	ENST00000297423.4	+	15	2452	c.2068C>T	c.(2068-2070)Ctc>Ttc	p.L690F	SPIDR_ENST00000517693.1_Missense_Mutation_p.L165F|SPIDR_ENST00000518074.1_Missense_Mutation_p.L630F|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.L620F	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	690					cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)											AGACCCCAGGCTCCCCAAAAC	0.572																																						dbGAP											0													71.0	80.0	77.0					8																	48625314		1959	4159	6118	-	-	-	SO:0001583	missense	0			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.2068C>T	8.37:g.48625314C>T	ENSP00000297423:p.Leu690Phe		B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	NULL	p.L690F	ENST00000297423.4	37	c.2068	CCDS43737.1	8	.	.	.	.	.	.	.	.	.	.	C	9.723	1.160236	0.21454	.	.	ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342;ENST00000519141;ENST00000517693;ENST00000519362;ENST00000522321;ENST00000518692;ENST00000521056	.	.	.	5.52	4.62	0.57501	.	0.402682	0.27331	N	0.019841	T	0.62454	0.2429	M	0.66939	2.045	0.31674	N	0.644044	B;B;P;D;P;B;D	0.76494	0.102;0.127;0.936;0.999;0.936;0.102;0.999	B;B;P;D;P;B;D	0.70016	0.051;0.069;0.512;0.967;0.64;0.051;0.967	T	0.68492	-0.5394	9	0.52906	T	0.07	.	9.1538	0.36980	0.2098:0.6574:0.1328:0.0	.	180;195;630;620;690;165;690	B4DZY2;B4DWT8;B4E0Y6;B4DFV2;B4DEV5;B3KP42;Q14159	.;.;.;.;.;.;K0146_HUMAN	F	690;630;620;195;165;165;51;51;51	.	ENSP00000297423:L690F	L	+	1	0	KIAA0146	48787867	0.026000	0.19158	0.790000	0.31976	0.037000	0.13140	0.854000	0.27791	1.283000	0.44513	0.655000	0.94253	CTC	KIAA0146	-	NULL	ENSG00000164808		0.572	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0146	HGNC	protein_coding	OTTHUMT00000377611.1	86	0.00	0	C	NM_001080394		48625314	48625314	+1	no_errors	ENST00000297423	ensembl	human	known	69_37n	missense	78	14.29	13	SNP	0.870	T
KIAA0196	9897	genome.wustl.edu	37	8	126069823	126069823	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:126069823C>T	ENST00000318410.7	-	15	2199	c.1850G>A	c.(1849-1851)gGa>gAa	p.G617E	KIAA0196_ENST00000517845.1_Missense_Mutation_p.G469E	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	617					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TACCAACTCTCCAGAATAGTA	0.428																																						dbGAP											0													71.0	61.0	65.0					8																	126069823		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1850G>A	8.37:g.126069823C>T	ENSP00000318016:p.Gly617Glu		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.G617E	ENST00000318410.7	37	c.1850	CCDS6355.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.738204|4.738204	0.89573|0.89573	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000523273|ENST00000318410;ENST00000517845	.|D;D	.|0.85411	.|-1.98;-1.98	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90021|0.90021	0.6884|0.6884	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.92;1.0	.|P;D	.|0.91635	.|0.551;0.999	D|D	0.86816|0.86816	0.2001|0.2001	5|10	.|0.25106	.|T	.|0.35	-17.9689|-17.9689	19.8113|19.8113	0.96547|0.96547	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|469;617	.|E7EQI7;Q12768	.|.;STRUM_HUMAN	K|E	234|617;469	.|ENSP00000318016:G617E;ENSP00000429676:G469E	.|ENSP00000318016:G617E	E|G	-|-	1|2	0|0	KIAA0196|KIAA0196	126139005|126139005	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.846000|0.846000	0.48090|0.48090	7.814000|7.814000	0.86154|0.86154	2.690000|2.690000	0.91761|0.91761	0.655000|0.655000	0.94253|0.94253	GAG|GGA	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.428	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	72	0.00	0	C	NM_014846		126069823	126069823	-1	no_errors	ENST00000318410	ensembl	human	known	69_37n	missense	71	23.66	22	SNP	1.000	T
KIAA0196	9897	genome.wustl.edu	37	8	126096005	126096005	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:126096005C>T	ENST00000318410.7	-	2	485	c.136G>A	c.(136-138)Gct>Act	p.A46T	KIAA0196_ENST00000521109.1_Intron|KIAA0196_ENST00000517845.1_Intron	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	46					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TGTTGATCAGCTCTGTCTTTT	0.358																																						dbGAP											0													66.0	62.0	63.0					8																	126096005		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.136G>A	8.37:g.126096005C>T	ENSP00000318016:p.Ala46Thr		A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	pfam_WASH_strumpellin,superfamily_Ig_E-set	p.A46T	ENST00000318410.7	37	c.136	CCDS6355.1	8	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664970	0.47572	.	.	ENSG00000164961	ENST00000318410	D	0.85773	-2.03	5.72	4.85	0.62838	.	0.149006	0.64402	D	0.000012	T	0.76828	0.4042	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.70163	-0.4947	10	0.23891	T	0.37	-9.1739	14.6193	0.68572	0.0:0.9301:0.0:0.0699	.	46	Q12768	STRUM_HUMAN	T	46	ENSP00000318016:A46T	ENSP00000318016:A46T	A	-	1	0	KIAA0196	126165187	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.337000	0.59310	1.422000	0.47177	0.655000	0.94253	GCT	KIAA0196	-	pfam_WASH_strumpellin	ENSG00000164961		0.358	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0196	HGNC	protein_coding	OTTHUMT00000381369.1	43	0.00	0	C	NM_014846		126096005	126096005	-1	no_errors	ENST00000318410	ensembl	human	known	69_37n	missense	46	11.54	6	SNP	1.000	T
KIAA0226	9711	genome.wustl.edu	37	3	197411061	197411061	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:197411061G>A	ENST00000296343.5	-	12	1813	c.1814C>T	c.(1813-1815)tCa>tTa	p.S605L	KIAA0226_ENST00000273582.5_Missense_Mutation_p.S560L|KIAA0226_ENST00000389665.5_Missense_Mutation_p.S630L	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	605	Ser-rich.				autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)				NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TTTGCTGCTTGAGGCTGTGTT	0.428																																					Esophageal Squamous(3;167 355 3763 15924)	dbGAP											0													183.0	182.0	182.0					3																	197411061		1913	4143	6056	-	-	-	SO:0001583	missense	0			D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1814C>T	3.37:g.197411061G>A	ENSP00000296343:p.Ser605Leu		Q96CK5	Nonsense_Mutation	SNP	NULL	p.Q389*	ENST00000296343.5	37	c.1165	CCDS43195.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.9|20.9	4.073083|4.073083	0.76415|0.76415	.|.	.|.	ENSG00000145016|ENSG00000145016	ENST00000415452|ENST00000273582;ENST00000296343;ENST00000389665	.|T;T;T	.|0.39787	.|1.06;1.06;1.06	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|0.075495	.|0.56097	.|D	.|0.000039	.|T	.|0.54398	.|0.1856	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999994|0.999994	.|D;P;P	.|0.54772	.|0.968;0.935;0.947	.|P;P;P	.|0.58970	.|0.849;0.571;0.585	.|T	.|0.56872	.|-0.7907	.|10	.|0.59425	.|D	.|0.04	.|.	18.1823|18.1823	0.89782|0.89782	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|630;560;605	.|Q92622-3;Q92622-2;Q92622	.|.;.;RUBIC_HUMAN	X|L	389|560;605;630	.|ENSP00000273582:S560L;ENSP00000296343:S605L;ENSP00000374316:S630L	.|ENSP00000273582:S560L	Q|S	-|-	1|2	0|0	KIAA0226|KIAA0226	198895458|198895458	1.000000|1.000000	0.71417|0.71417	0.670000|0.670000	0.29842|0.29842	0.985000|0.985000	0.73830|0.73830	5.107000|5.107000	0.64603|0.64603	2.296000|2.296000	0.77279|0.77279	0.655000|0.655000	0.94253|0.94253	CAA|TCA	KIAA0226	-	NULL	ENSG00000145016		0.428	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0226	HGNC	protein_coding	OTTHUMT00000340184.1	326	0.00	0	G	XM_032901		197411061	197411061	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000415452	ensembl	human	putative	69_37n	nonsense	384	17.38	81	SNP	1.000	A
KIAA1217	56243	genome.wustl.edu	37	10	24762530	24762530	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:24762530C>T	ENST00000376454.3	+	6	1250	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	KIAA1217_ENST00000376462.1_Missense_Mutation_p.A327V|KIAA1217_ENST00000396446.1_Missense_Mutation_p.A125V|KIAA1217_ENST00000430453.2_Missense_Mutation_p.A328V|KIAA1217_ENST00000396445.1_Missense_Mutation_p.A125V|KIAA1217_ENST00000307544.6_Missense_Mutation_p.A125V|KIAA1217_ENST00000376451.2_Missense_Mutation_p.A125V|KIAA1217_ENST00000458595.1_Missense_Mutation_p.A407V|KIAA1217_ENST00000376452.3_Missense_Mutation_p.A407V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	407					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						ATGAGCATAGCCTCATCCCAT	0.498																																						dbGAP											0													88.0	81.0	84.0					10																	24762530		2203	4300	6503	-	-	-	SO:0001583	missense	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.1220C>T	10.37:g.24762530C>T	ENSP00000365637:p.Ala407Val		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	pfam_AIP3_C	p.A407V	ENST00000376454.3	37	c.1220	CCDS31165.1	10	.	.	.	.	.	.	.	.	.	.	C	19.72	3.881022	0.72294	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.28	5.28	0.74379	.	0.049208	0.85682	D	0.000000	T	0.73345	0.3575	L	0.56199	1.76	0.58432	D	0.999998	D;P;D;D;D;D;D;P	0.89917	1.0;0.941;1.0;0.997;1.0;1.0;0.999;0.946	D;P;D;P;D;D;D;P	0.91635	0.999;0.571;0.999;0.895;0.999;0.999;0.997;0.586	T	0.74466	-0.3656	10	0.56958	D	0.05	.	18.9017	0.92444	0.0:1.0:0.0:0.0	.	407;407;125;125;125;125;407;407	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	V	327;407;407;125;407;407;257;328;125;125;125;125;125	ENSP00000365645:A327V;ENSP00000365639:A407V;ENSP00000392625:A407V;ENSP00000365637:A407V;ENSP00000365635:A407V;ENSP00000404798:A257V;ENSP00000389680:A328V;ENSP00000302343:A125V;ENSP00000379722:A125V;ENSP00000365634:A125V;ENSP00000379723:A125V	ENSP00000302343:A125V	A	+	2	0	KIAA1217	24802536	1.000000	0.71417	0.989000	0.46669	0.641000	0.38312	5.584000	0.67490	2.472000	0.83506	0.655000	0.94253	GCC	KIAA1217	-	NULL	ENSG00000120549		0.498	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	139	0.00	0	C	NM_019590		24762530	24762530	+1	no_errors	ENST00000376454	ensembl	human	known	69_37n	missense	116	13.33	18	SNP	0.998	T
KIDINS220	57498	genome.wustl.edu	37	2	8871261	8871261	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:8871261C>T	ENST00000256707.3	-	30	5086	c.4905G>A	c.(4903-4905)ctG>ctA	p.L1635L	KIDINS220_ENST00000473731.1_Silent_p.L1616L|KIDINS220_ENST00000427284.1_Silent_p.L1616L|KIDINS220_ENST00000418530.1_Silent_p.L1536L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1635					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)					TTGGATCTTGCAGGCCACTCA	0.502																																						dbGAP											0													77.0	72.0	74.0					2																	8871261		1956	4142	6098	-	-	-	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.4905G>A	2.37:g.8871261C>T			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.L1635	ENST00000256707.3	37	c.4905	CCDS42650.1	2																																																																																			KIDINS220	-	NULL	ENSG00000134313		0.502	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	87	0.00	0	C	NM_020738		8871261	8871261	-1	no_errors	ENST00000256707	ensembl	human	known	69_37n	silent	123	16.33	24	SNP	0.856	T
KIDINS220	57498	genome.wustl.edu	37	2	8890369	8890369	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:8890369C>T	ENST00000256707.3	-	24	3468	c.3287G>A	c.(3286-3288)aGc>aAc	p.S1096N	KIDINS220_ENST00000473731.1_Missense_Mutation_p.S1096N|KIDINS220_ENST00000427284.1_Missense_Mutation_p.S1096N|KIDINS220_ENST00000418530.1_Missense_Mutation_p.S1054N	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1096					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)					TGGGGGCTGGCTGTACCCTGA	0.602																																						dbGAP											0													71.0	74.0	73.0					2																	8890369		2002	4173	6175	-	-	-	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.3287G>A	2.37:g.8890369C>T	ENSP00000256707:p.Ser1096Asn		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.S1096N	ENST00000256707.3	37	c.3287	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	C	13.40	2.225289	0.39300	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000459813	T;T;T;T;T;T	0.68331	0.94;-0.32;-0.24;-0.1;-0.24;-0.13	5.79	4.91	0.64330	.	0.215793	0.56097	D	0.000035	T	0.55481	0.1923	L	0.31294	0.92	0.47123	D	0.999321	B;B;B;B;B	0.12013	0.0;0.0;0.002;0.005;0.002	B;B;B;B;B	0.17433	0.001;0.001;0.008;0.018;0.008	T	0.50398	-0.8833	10	0.34782	T	0.22	.	15.1352	0.72558	0.0:0.9315:0.0:0.0684	.	1097;1097;780;1054;1096	B4DK94;E9PH70;B4DGY1;Q9ULH0-2;Q9ULH0	.;.;.;.;KDIS_HUMAN	N	843;780;1096;1096;1054;1096;1097;105	ENSP00000420364:S843N;ENSP00000256707:S1096N;ENSP00000411849:S1096N;ENSP00000414923:S1054N;ENSP00000418974:S1096N;ENSP00000419964:S1097N	ENSP00000256707:S1096N	S	-	2	0	KIDINS220	8807820	0.999000	0.42202	0.939000	0.37840	0.304000	0.27724	3.812000	0.55628	2.733000	0.93635	0.655000	0.94253	AGC	KIDINS220	-	NULL	ENSG00000134313		0.602	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	55	0.00	0	C	NM_020738		8890369	8890369	-1	no_errors	ENST00000256707	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	1.000	T
KIDINS220	57498	genome.wustl.edu	37	2	8931196	8931196	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:8931196G>A	ENST00000256707.3	-	13	1616	c.1435C>T	c.(1435-1437)Cta>Tta	p.L479L	KIDINS220_ENST00000418530.1_Silent_p.L437L|KIDINS220_ENST00000473731.1_Silent_p.L479L|KIDINS220_ENST00000319688.5_Silent_p.L480L|KIDINS220_ENST00000427284.1_Silent_p.L479L	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	479	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)					TTACCTTCTAGTTTCTTGAGT	0.418																																						dbGAP											0													87.0	82.0	83.0					2																	8931196		1851	4086	5937	-	-	-	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.1435C>T	2.37:g.8931196G>A			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.L479	ENST00000256707.3	37	c.1435	CCDS42650.1	2																																																																																			KIDINS220	-	pfam_KAP_NTPase	ENSG00000134313		0.418	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	331	0.00	0	G	NM_020738		8931196	8931196	-1	no_errors	ENST00000256707	ensembl	human	known	69_37n	silent	164	19.90	41	SNP	1.000	A
KIF14	9928	genome.wustl.edu	37	1	200587461	200587461	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:200587461C>T	ENST00000367350.4	-	2	829	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	131	Required for PRC1-binding.				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						TTCCACTTTTCTGCAGAATCT	0.363																																						dbGAP											0													102.0	104.0	103.0					1																	200587461		2203	4300	6503	-	-	-	SO:0001583	missense	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.391G>A	1.37:g.200587461C>T	ENSP00000356319:p.Glu131Lys		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	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.E131K	ENST00000367350.4	37	c.391	CCDS30963.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.620848	0.96660	.	.	ENSG00000118193	ENST00000367350	T	0.77098	-1.07	5.95	5.95	0.96441	.	0.460561	0.21929	N	0.067042	T	0.70640	0.3247	L	0.29908	0.895	0.30168	N	0.801541	P	0.42871	0.792	B	0.40329	0.326	T	0.65969	-0.6039	10	0.20046	T	0.44	.	20.3712	0.98891	0.0:1.0:0.0:0.0	.	131	Q15058	KIF14_HUMAN	K	131	ENSP00000356319:E131K	ENSP00000356319:E131K	E	-	1	0	KIF14	198854084	0.806000	0.28996	0.016000	0.15963	0.907000	0.53573	5.771000	0.68881	2.822000	0.97130	0.655000	0.94253	GAA	KIF14	-	NULL	ENSG00000118193		0.363	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF14	HGNC	protein_coding	OTTHUMT00000086878.1	124	0.00	0	C	NM_014875		200587461	200587461	-1	no_errors	ENST00000367350	ensembl	human	known	69_37n	missense	196	10.45	23	SNP	0.897	T
KIF16B	55614	genome.wustl.edu	37	20	16486778	16486778	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:16486778G>A	ENST00000354981.2	-	8	914	c.757C>T	c.(757-759)Ctt>Ttt	p.L253F	KIF16B_ENST00000355755.3_Missense_Mutation_p.L253F|KIF16B_ENST00000408042.1_Missense_Mutation_p.L253F|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	253	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						CTTCCGGCAAGATCAACCAAG	0.468																																						dbGAP											0													129.0	127.0	128.0					20																	16486778		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.757C>T	20.37:g.16486778G>A	ENSP00000347076:p.Leu253Phe		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.L253F	ENST00000354981.2	37	c.757	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177237	0.78564	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	D;D;D	0.88509	-2.39;-2.39;-2.39	5.15	5.15	0.70609	Kinesin, motor domain (5);Kinesin, motor region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96664	0.8911	H	0.98769	4.325	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;0.999;0.999;1.0	D	0.97404	0.9998	10	0.87932	D	0	.	12.3792	0.55297	0.078:0.0:0.922:0.0	.	253;253;253;253	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	F	253	ENSP00000347076:L253F;ENSP00000347995:L253F;ENSP00000384164:L253F	ENSP00000347076:L253F	L	-	1	0	KIF16B	16434778	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	4.798000	0.62510	2.552000	0.86080	0.563000	0.77884	CTT	KIF16B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000089177		0.468	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	462	0.00	0	G	NM_017683		16486778	16486778	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	missense	326	13.98	53	SNP	1.000	A
KIF20A	10112	genome.wustl.edu	37	5	137520321	137520321	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:137520321G>A	ENST00000394894.3	+	13	1865	c.1639G>A	c.(1639-1641)Gat>Aat	p.D547N	KIF20A_ENST00000508792.1_Missense_Mutation_p.D529N	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	547					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGGCCTTGATGATGATATTGA	0.448																																						dbGAP											0													122.0	114.0	116.0					5																	137520321		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1639G>A	5.37:g.137520321G>A	ENSP00000378356:p.Asp547Asn		B4DL79|D3DQB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D547N	ENST00000394894.3	37	c.1639	CCDS4199.1	5	.	.	.	.	.	.	.	.	.	.	G	7.936	0.741730	0.15642	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.71222	-0.54;-0.55	5.0	4.14	0.48551	.	0.573764	0.14626	N	0.308123	T	0.57577	0.2063	L	0.27053	0.805	0.30235	N	0.795577	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.52381	-0.8583	10	0.24483	T	0.36	-1.9629	13.3894	0.60813	0.0771:0.0:0.9229:0.0	.	529;547	B4DL79;O95235	.;KI20A_HUMAN	N	547;529	ENSP00000378356:D547N;ENSP00000420880:D529N	ENSP00000378356:D547N	D	+	1	0	KIF20A	137548220	0.975000	0.34042	0.187000	0.23214	0.076000	0.17211	1.968000	0.40500	1.327000	0.45338	-0.252000	0.11476	GAT	KIF20A	-	NULL	ENSG00000112984		0.448	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1	242	0.00	0	G	NM_005733		137520321	137520321	+1	no_errors	ENST00000394894	ensembl	human	known	69_37n	missense	163	19.70	40	SNP	0.991	A
KIF21A	55605	genome.wustl.edu	37	12	39752014	39752014	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:39752014G>A	ENST00000361418.5	-	8	1196	c.1181C>T	c.(1180-1182)aCa>aTa	p.T394I	KIF21A_ENST00000395670.3_Missense_Mutation_p.T394I|KIF21A_ENST00000361961.3_Missense_Mutation_p.T394I|KIF21A_ENST00000544797.2_Missense_Mutation_p.T394I|KIF21A_ENST00000541463.2_Missense_Mutation_p.T394I			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	394					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)				CTGAAGTCGTGTGATTTCACT	0.403																																						dbGAP											0													382.0	345.0	358.0					12																	39752014		2203	4300	6503	-	-	-	SO:0001583	missense	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.1181C>T	12.37:g.39752014G>A	ENSP00000354878:p.Thr394Ile		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T394I	ENST00000361418.5	37	c.1181	CCDS53776.1	12	.	.	.	.	.	.	.	.	.	.	G	18.94	3.728735	0.69074	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	4.47	4.47	0.54385	.	0.000000	0.53938	D	0.000059	T	0.65863	0.2732	N	0.08118	0	0.43729	D	0.996218	B;P;P;P;B	0.47910	0.385;0.546;0.902;0.469;0.039	B;B;P;B;B	0.54499	0.236;0.136;0.754;0.287;0.007	T	0.74405	-0.3676	10	0.62326	D	0.03	.	17.5127	0.87764	0.0:0.0:1.0:0.0	.	394;394;394;394;394	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	I	394;394;394;394;394;394;217	ENSP00000354851:T394I;ENSP00000379029:T394I;ENSP00000445606:T394I;ENSP00000354878:T394I;ENSP00000438075:T394I;ENSP00000449700:T217I	ENSP00000344501:T394I	T	-	2	0	KIF21A	38038281	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	9.550000	0.98110	2.190000	0.69967	0.655000	0.94253	ACA	KIF21A	-	NULL	ENSG00000139116		0.403	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF21A	HGNC	protein_coding	OTTHUMT00000403581.1	533	0.00	0	G	NM_017641		39752014	39752014	-1	no_errors	ENST00000395670	ensembl	human	known	69_37n	missense	627	10.41	73	SNP	1.000	A
KIF27	55582	genome.wustl.edu	37	9	86474193	86474193	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:86474193C>T	ENST00000297814.2	-	14	3171	c.3028G>A	c.(3028-3030)Gct>Act	p.A1010T	RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.A913T|RP11-575L7.4_ENST00000421734.3_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.A944T|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000592283.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1010					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTCTCCTCAGCTGTACTGGTC	0.393																																						dbGAP											0													168.0	148.0	155.0					9																	86474193		2202	4300	6502	-	-	-	SO:0001583	missense	0			AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3028G>A	9.37:g.86474193C>T	ENSP00000297814:p.Ala1010Thr		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A1010T	ENST00000297814.2	37	c.3028	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175675	0.21704	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.52295	0.67;0.67;0.67	4.58	2.71	0.32032	.	0.416733	0.20304	N	0.094966	T	0.28499	0.0705	L	0.31207	0.915	0.09310	N	0.999995	B;B;B	0.14012	0.009;0.005;0.005	B;B;B	0.16289	0.015;0.007;0.003	T	0.13415	-1.0510	10	0.21540	T	0.41	.	3.4424	0.07468	0.0:0.4287:0.1977:0.3737	.	913;944;1010	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	T	1010;944;913	ENSP00000297814:A1010T;ENSP00000401688:A944T;ENSP00000333928:A913T	ENSP00000297814:A1010T	A	-	1	0	KIF27	85664013	1.000000	0.71417	0.998000	0.56505	0.565000	0.35776	1.388000	0.34442	0.528000	0.28580	0.555000	0.69702	GCT	KIF27	-	NULL	ENSG00000165115		0.393	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	HGNC	protein_coding	OTTHUMT00000052861.1	194	0.51	1	C	NM_017576		86474193	86474193	-1	no_errors	ENST00000297814	ensembl	human	known	69_37n	missense	188	21.99	53	SNP	0.998	T
KIF5B	3799	genome.wustl.edu	37	10	32306077	32306077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:32306077G>A	ENST00000302418.4	-	24	3212	c.2755C>T	c.(2755-2757)Cag>Tag	p.Q919*	KIF5B_ENST00000493889.1_5'Flank	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	919	Globular.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				TAACCAATCTGTGCAGAATGC	0.388			T	"""RET, ALK"""	NSCLC																																	dbGAP		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													237.0	216.0	223.0					10																	32306077		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2755C>T	10.37:g.32306077G>A	ENSP00000307078:p.Gln919*		A0AVB2|Q5VZ85	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q919*	ENST00000302418.4	37	c.2755	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	G	43	10.221966	0.99362	.	.	ENSG00000170759	ENST00000302418	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	19.5519	0.95324	0.0:0.0:1.0:0.0	.	.	.	.	X	919	.	ENSP00000307078:Q919X	Q	-	1	0	KIF5B	32346083	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.576000	0.74023	2.623000	0.88846	0.467000	0.42956	CAG	KIF5B	-	NULL	ENSG00000170759		0.388	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	293	0.00	0	G	NM_004521		32306077	32306077	-1	no_errors	ENST00000302418	ensembl	human	known	69_37n	nonsense	204	10.53	24	SNP	1.000	A
KIFC1	3833	genome.wustl.edu	37	6	33372938	33372938	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:33372938C>T	ENST00000428849.2	+	7	1516	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	356	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|spindle assembly (GO:0051225)	endosome (GO:0005768)|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)|minus-end-directed microtubule motor activity (GO:0008569)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GTCTGACGAGCGGCGTGGGAC	0.632																																						dbGAP											0													63.0	67.0	66.0					6																	33372938		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14678	CCDS34430.1	6p21.32	2014-05-15	2003-01-09	2003-01-10	ENSG00000237649	ENSG00000237649		"""Kinesins"""	6389	protein-coding gene	gene with protein product		603763	"""kinesin-like 2"""	KNSL2		8276466	Standard	NM_002263		Approved	HSET	uc003oef.4	Q9BW19	OTTHUMG00000031209	ENST00000428849.2:c.1066C>T	6.37:g.33372938C>T	ENSP00000393963:p.Arg356Trp		O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R356W	ENST00000428849.2	37	c.1066	CCDS34430.1	6	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988601	0.53934	.	.	ENSG00000237649	ENST00000428849	T	0.75050	-0.9	5.28	4.39	0.52855	Kinesin, motor domain (3);	0.000000	0.48286	D	0.000193	T	0.66076	0.2753	N	0.19112	0.55	0.30582	N	0.762371	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.67643	-0.5618	10	0.66056	D	0.02	-14.3216	10.9127	0.47118	0.1871:0.8129:0.0:0.0	.	348;356	B4E063;Q9BW19	.;KIFC1_HUMAN	W	356	ENSP00000393963:R356W	ENSP00000393963:R356W	R	+	1	2	KIFC1	33480916	0.919000	0.31177	0.971000	0.41717	0.748000	0.42578	1.602000	0.36783	1.414000	0.47017	0.655000	0.94253	CGG	KIFC1	-	smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000237649		0.632	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	103	0.00	0	C	NM_002263		33372938	33372938	+1	no_errors	ENST00000428849	ensembl	human	known	69_37n	missense	103	14.88	18	SNP	0.547	T
KLF5	688	genome.wustl.edu	37	13	73636549	73636549	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:73636549C>T	ENST00000377687.4	+	2	1348	c.812C>T	c.(811-813)cCg>cTg	p.P271L	KLF5_ENST00000539231.1_Missense_Mutation_p.P180L|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	271					angiogenesis (GO:0001525)|cellular response to organic cyclic compound (GO:0071407)|cellular response to peptide (GO:1901653)|intestinal epithelial cell development (GO:0060576)|microvillus assembly (GO:0030033)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microvillus assembly (GO:0032534)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	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 positive regulation of transcription (GO:0001077)			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		TCTGCTGTTCCGCAGACTGCA	0.498																																						dbGAP											0													105.0	96.0	99.0					13																	73636549		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14520	CCDS9448.1, CCDS66562.1	13q21.3	2013-01-08			ENSG00000102554	ENSG00000102554		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6349	protein-coding gene	gene with protein product		602903		BTEB2		8479902, 9973612	Standard	NM_001730		Approved	IKLF, CKLF	uc001vje.3	Q13887	OTTHUMG00000017074	ENST00000377687.4:c.812C>T	13.37:g.73636549C>T	ENSP00000366915:p.Pro271Leu		L0R3U5|L0R4T9|Q9UHP8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P271L	ENST00000377687.4	37	c.812	CCDS9448.1	13	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823366	0.50739	.	.	ENSG00000102554	ENST00000539231;ENST00000377687;ENST00000545883	T;T	0.08720	3.25;3.06	5.94	5.94	0.96194	.	0.180293	0.53938	D	0.000054	T	0.08492	0.0211	L	0.31664	0.95	0.54753	D	0.999989	B	0.14438	0.01	B	0.08055	0.003	T	0.12889	-1.0530	10	0.52906	T	0.07	.	15.1171	0.72410	0.1414:0.8586:0.0:0.0	.	271	Q13887	KLF5_HUMAN	L	180;271;251	ENSP00000440407:P180L;ENSP00000366915:P271L	ENSP00000366915:P271L	P	+	2	0	KLF5	72534550	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	4.303000	0.59098	2.816000	0.96949	0.561000	0.74099	CCG	KLF5	-	NULL	ENSG00000102554		0.498	KLF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF5	HGNC	protein_coding	OTTHUMT00000045263.1	99	0.00	0	C			73636549	73636549	+1	no_errors	ENST00000377687	ensembl	human	known	69_37n	missense	83	44.67	67	SNP	1.000	T
KLHL23	151230	genome.wustl.edu	37	2	170592607	170592607	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:170592607C>T	ENST00000392647.2	+	2	1327	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Silent_p.Y361Y	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	361										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCAGGTATTACCACTGTGCAG	0.453																																						dbGAP											0													205.0	196.0	199.0					2																	170592607		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.1083C>T	2.37:g.170592607C>T			Q8N9B9|Q96FT8	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.Y361	ENST00000392647.2	37	c.1083	CCDS2236.1	2																																																																																			KLHL23	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000213160		0.453	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2	134	0.00	0	C	NM_144711		170592607	170592607	+1	no_errors	ENST00000272797	ensembl	human	known	69_37n	silent	199	21.96	56	SNP	1.000	T
KLHL38	340359	genome.wustl.edu	37	8	124664946	124664946	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:124664946T>A	ENST00000325995.7	-	1	244	c.221A>T	c.(220-222)aAa>aTa	p.K74I	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	74	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CAGCTGCACTTTGGCTTCACT	0.602																																						dbGAP											0													74.0	82.0	79.0					8																	124664946		2074	4200	6274	-	-	-	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.221A>T	8.37:g.124664946T>A	ENSP00000321475:p.Lys74Ile		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.K74I	ENST00000325995.7	37	c.221	CCDS43766.1	8	.	.	.	.	.	.	.	.	.	.	T	13.45	2.239463	0.39598	.	.	ENSG00000175946	ENST00000325995	T	0.67345	-0.26	5.5	-0.669	0.11388	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.235453	0.48286	D	0.000186	T	0.55940	0.1952	L	0.49126	1.545	0.23751	N	0.996943	B	0.22604	0.072	B	0.30029	0.11	T	0.52388	-0.8582	10	0.54805	T	0.06	.	6.8341	0.23927	0.0:0.3347:0.1201:0.5452	.	74	Q2WGJ6	KLH38_HUMAN	I	74	ENSP00000321475:K74I	ENSP00000321475:K74I	K	-	2	0	KLHL38	124734127	0.920000	0.31207	0.833000	0.33012	0.405000	0.30901	0.618000	0.24373	0.088000	0.17205	0.459000	0.35465	AAA	KLHL38	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000175946		0.602	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	119	0.00	0	T			124664946	124664946	-1	no_errors	ENST00000325995	ensembl	human	known	69_37n	missense	73	35.96	41	SNP	0.075	A
KRT36	8689	genome.wustl.edu	37	17	39645881	39645881	+	Missense_Mutation	SNP	C	C	T	rs564136236	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:39645881C>T	ENST00000328119.6	-	1	235	c.236G>A	c.(235-237)gGg>gAg	p.G79E	KRT36_ENST00000393986.2_Missense_Mutation_p.G29E	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	79	Head.				regulation of keratinocyte differentiation (GO:0045616)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of epidermis (GO:0030280)			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCCCCCGCTCCCCACAAAGCC	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		17151	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													72.0	74.0	73.0					17																	39645881		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y16792	CCDS11395.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000126337	ENSG00000126337		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6454	protein-coding gene	gene with protein product		604540	"""keratin, hair, acidic, 6"""	KRTHA6		9756910, 16831889	Standard	XM_005257762		Approved		uc002hwt.3	O76013	OTTHUMG00000133431	ENST00000328119.6:c.236G>A	17.37:g.39645881C>T	ENSP00000329165:p.Gly79Glu		Q86XG4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.G79E	ENST00000328119.6	37	c.236	CCDS11395.1	17	.	.	.	.	.	.	.	.	.	.	C	12.07	1.827610	0.32329	.	.	ENSG00000126337	ENST00000393986;ENST00000328119	D;D	0.83075	-1.68;-1.66	5.43	5.43	0.79202	.	0.000000	0.45867	D	0.000337	D	0.84019	0.5380	M	0.72353	2.195	0.40308	D	0.978688	B	0.28850	0.225	B	0.31614	0.133	D	0.84188	0.0443	10	0.72032	D	0.01	.	18.0114	0.89225	0.0:1.0:0.0:0.0	.	79	O76013	KRT36_HUMAN	E	29;79	ENSP00000377555:G29E;ENSP00000329165:G79E	ENSP00000329165:G79E	G	-	2	0	KRT36	36899407	0.538000	0.26394	0.243000	0.24186	0.095000	0.18619	3.928000	0.56506	2.539000	0.85634	0.563000	0.77884	GGG	KRT36	-	NULL	ENSG00000126337		0.612	KRT36-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT36	HGNC	protein_coding	OTTHUMT00000259508.1	86	0.00	0	C	NM_003771		39645881	39645881	-1	no_errors	ENST00000328119	ensembl	human	known	69_37n	missense	57	17.39	12	SNP	0.929	T
KRT78	196374	genome.wustl.edu	37	12	53233250	53233250	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:53233250G>A	ENST00000304620.4	-	8	1353	c.1290C>T	c.(1288-1290)agC>agT	p.S430S	KRT78_ENST00000359499.4_Silent_p.S320S	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	430	Ser-rich.|Tail.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TAGTGACCTGGCTGGTGCACT	0.557																																						dbGAP											0													47.0	40.0	42.0					12																	53233250		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.1290C>T	12.37:g.53233250G>A			A8K4D6|Q5HYM7|Q7RTT2	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S430	ENST00000304620.4	37	c.1290	CCDS8840.1	12																																																																																			KRT78	-	NULL	ENSG00000170423		0.557	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT78	HGNC	protein_coding	OTTHUMT00000406380.1	26	0.00	0	G	NM_173352		53233250	53233250	-1	no_errors	ENST00000304620	ensembl	human	known	69_37n	silent	30	11.43	4	SNP	0.510	A
KSR2	283455	genome.wustl.edu	37	12	118198910	118198910	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:118198910G>A	ENST00000339824.5	-	4	1619	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L	KSR2_ENST00000425217.1_Silent_p.L269L			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	298					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGTGTATCAGTTTTCGGGAG	0.652																																						dbGAP											0													95.0	114.0	108.0					12																	118198910		1923	4122	6045	-	-	-	SO:0001819	synonymous_variant	0			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.892C>T	12.37:g.118198910G>A			A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L298	ENST00000339824.5	37	c.892		12																																																																																			KSR2	-	NULL	ENSG00000171435		0.652	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	53	0.00	0	G	NM_173598		118198910	118198910	-1	no_errors	ENST00000339824	ensembl	human	known	69_37n	silent	68	12.82	10	SNP	1.000	A
L3MBTL3	84456	genome.wustl.edu	37	6	130425709	130425709	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:130425709C>T	ENST00000529410.1	+	21	2354	c.1875C>T	c.(1873-1875)tcC>tcT	p.S625S	L3MBTL3_ENST00000368139.2_Silent_p.S600S|L3MBTL3_ENST00000533560.1_Silent_p.S600S|L3MBTL3_ENST00000526019.1_Silent_p.S600S|L3MBTL3_ENST00000361794.2_Silent_p.S625S|L3MBTL3_ENST00000368136.2_Silent_p.S625S			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	625					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)		GCTCTTCTTCCCCTGAAATCA	0.348																																						dbGAP											0													87.0	90.0	89.0					6																	130425709		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.1875C>T	6.37:g.130425709C>T			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.S625	ENST00000529410.1	37	c.1875	CCDS34537.1	6																																																																																			L3MBTL3	-	NULL	ENSG00000198945		0.348	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	L3MBTL3	HGNC	protein_coding	OTTHUMT00000042195.2	444	0.00	0	C	XM_027074		130425709	130425709	+1	no_errors	ENST00000361794	ensembl	human	known	69_37n	silent	311	10.89	38	SNP	0.993	T
LANCL2	55915	genome.wustl.edu	37	7	55492987	55492987	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:55492987G>A	ENST00000254770.2	+	7	1627	c.1049G>A	c.(1048-1050)tGt>tAt	p.C350Y		NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	350					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of abscisic acid-activated signaling pathway (GO:0009789)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|GTP binding (GO:0005525)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GCCATGGAGTGTAGCGATGTG	0.478																																						dbGAP											0													161.0	145.0	151.0					7																	55492987		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278245	CCDS5517.1	7q31.1-q31.33	2008-07-18	2001-12-04		ENSG00000132434	ENSG00000132434			6509	protein-coding gene	gene with protein product	"""testis-specific adriamycin sensitivity protein"", ""G protein-coupled receptor 69B"""	612919	"""LanC (bacterial lantibiotic synthetase component C)-like 2"""	GPR69B		11762191	Standard	NM_018697		Approved	TASP	uc003tqp.3	Q9NS86	OTTHUMG00000023779	ENST00000254770.2:c.1049G>A	7.37:g.55492987G>A	ENSP00000254770:p.Cys350Tyr		B2R8D4|Q6NSL4|Q8TCQ3|Q9BSR1	Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.C350Y	ENST00000254770.2	37	c.1049	CCDS5517.1	7	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453719	0.63290	.	.	ENSG00000132434	ENST00000254770	T	0.43688	0.94	5.5	5.5	0.81552	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.72684	0.3491	M	0.91717	3.235	0.80722	D	1	D	0.65815	0.995	D	0.72075	0.976	T	0.78816	-0.2055	10	0.87932	D	0	.	18.3293	0.90263	0.0:0.0:1.0:0.0	.	350	Q9NS86	LANC2_HUMAN	Y	350	ENSP00000254770:C350Y	ENSP00000254770:C350Y	C	+	2	0	LANCL2	55460481	1.000000	0.71417	0.993000	0.49108	0.132000	0.20833	9.324000	0.96373	2.741000	0.93983	0.650000	0.86243	TGT	LANCL2	-	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk	ENSG00000132434		0.478	LANCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LANCL2	HGNC	protein_coding	OTTHUMT00000251459.1	90	0.00	0	G	NM_018697		55492987	55492987	+1	no_errors	ENST00000254770	ensembl	human	known	69_37n	missense	178	20.54	46	SNP	1.000	A
LAS1L	81887	genome.wustl.edu	37	X	64749665	64749665	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:64749665C>T	ENST00000374811.3	-	5	648	c.608G>A	c.(607-609)aGg>aAg	p.R203K	LAS1L_ENST00000374807.5_Missense_Mutation_p.R203K|LAS1L_ENST00000374804.5_Missense_Mutation_p.R161K|LAS1L_ENST00000312391.8_Missense_Mutation_p.R203K	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	203					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TATCCCTTCCCTGAACTCCTC	0.498																																						dbGAP											0													187.0	162.0	170.0					X																	64749665		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.608G>A	X.37:g.64749665C>T	ENSP00000363944:p.Arg203Lys		A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	pfam_Las1	p.R203K	ENST00000374811.3	37	c.608	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	C	3.897	-0.022878	0.07634	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.76	-6.03	0.02185	.	1.203820	0.05537	N	0.565022	T	0.36220	0.0959	L	0.51422	1.61	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.32375	-0.9909	9	0.13108	T	0.6	.	10.4059	0.44256	0.1066:0.1093:0.0:0.7841	.	161;203;203	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	K	203;203;161;203	.	ENSP00000308649:R203K	R	-	2	0	LAS1L	64666390	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.381000	0.01065	-0.873000	0.04032	0.600000	0.82982	AGG	LAS1L	-	NULL	ENSG00000001497		0.498	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	229	0.00	0	C	NM_031206		64749665	64749665	-1	no_errors	ENST00000374811	ensembl	human	known	69_37n	missense	201	27.70	77	SNP	0.000	T
LCT	3938	genome.wustl.edu	37	2	136566076	136566076	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:136566076G>A	ENST00000264162.2	-	8	3851	c.3841C>T	c.(3841-3843)Ccg>Tcg	p.P1281S	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1281	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCCGTGTTCGGATTGGTCAGC	0.493																																						dbGAP											0													231.0	204.0	213.0					2																	136566076		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3841C>T	2.37:g.136566076G>A	ENSP00000264162:p.Pro1281Ser		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.P1281S	ENST00000264162.2	37	c.3841	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.772559	0.00640	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.29655	1.56	5.9	0.247	0.15521	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	1.380470	0.03913	N	0.282227	T	0.12987	0.0315	N	0.02708	-0.52	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.21793	-1.0235	10	0.18276	T	0.48	-5.8285	5.3554	0.16057	0.2615:0.5134:0.2251:0.0	.	1281	P09848	LPH_HUMAN	S	1281;713	ENSP00000264162:P1281S	ENSP00000264162:P1281S	P	-	1	0	LCT	136282546	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	-0.097000	0.11042	0.357000	0.24183	0.563000	0.77884	CCG	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.493	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	166	0.00	0	G	NM_002299		136566076	136566076	-1	no_errors	ENST00000264162	ensembl	human	known	69_37n	missense	115	46.26	99	SNP	0.000	A
LEO1	123169	genome.wustl.edu	37	15	52258692	52258692	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:52258692G>A	ENST00000299601.5	-	2	128	c.68C>T	c.(67-69)tCt>tTt	p.S23F	LEO1_ENST00000315141.5_Missense_Mutation_p.S23F	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	23	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GTCAGATCCAGAATCAGAATC	0.418																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	dbGAP											0													79.0	77.0	78.0					15																	52258692		2190	4292	6482	-	-	-	SO:0001583	missense	0			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.68C>T	15.37:g.52258692G>A	ENSP00000299601:p.Ser23Phe		Q96N99	Missense_Mutation	SNP	pfam_Leo1	p.S23F	ENST00000299601.5	37	c.68	CCDS10146.1	15	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330779	0.81690	.	.	ENSG00000166477	ENST00000299601;ENST00000538386;ENST00000315141	.	.	.	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.72358	0.3450	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.80764	0.994;0.991	T	0.74671	-0.3587	9	0.66056	D	0.02	.	19.3118	0.94189	0.0:0.0:1.0:0.0	.	23;23	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	F	23	.	ENSP00000299601:S23F	S	-	2	0	LEO1	50045984	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.615000	0.90920	2.558000	0.86282	0.563000	0.77884	TCT	LEO1	-	NULL	ENSG00000166477		0.418	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEO1	HGNC	protein_coding	OTTHUMT00000254791.2	220	0.00	0	G	NM_138792		52258692	52258692	-1	no_errors	ENST00000299601	ensembl	human	known	69_37n	missense	280	34.43	147	SNP	1.000	A
LEPRE1	64175	genome.wustl.edu	37	1	43213080	43213080	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:43213080C>T	ENST00000296388.5	-	14	1969	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K	LEPRE1_ENST00000462474.1_5'UTR|LEPRE1_ENST00000397054.3_Missense_Mutation_p.E640K|LEPRE1_ENST00000236040.4_Missense_Mutation_p.E640K			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	640	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGCTGCACCTCTGCCTAAGGG	0.582											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													44.0	45.0	45.0					1																	43213080		2176	4241	6417	-	-	-	SO:0001583	missense	0			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.1918G>A	1.37:g.43213080C>T	ENSP00000296388:p.Glu640Lys	914	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E640K	ENST00000296388.5	37	c.1918	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930004	0.73327	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.39592	1.07;1.07;1.07	5.27	5.27	0.74061	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.050530	0.85682	D	0.000000	T	0.48822	0.1521	L	0.32530	0.975	0.40189	D	0.977383	D;D;D	0.71674	0.998;0.997;0.998	D;D;D	0.70487	0.917;0.943;0.969	T	0.36138	-0.9760	10	0.23891	T	0.37	-27.3037	11.4925	0.50389	0.1793:0.8207:0.0:0.0	.	640;505;640	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	K	640;640;640;505	ENSP00000380245:E640K;ENSP00000236040:E640K;ENSP00000296388:E640K	ENSP00000236040:E640K	E	-	1	0	LEPRE1	42985667	0.971000	0.33674	1.000000	0.80357	0.987000	0.75469	2.371000	0.44248	2.466000	0.83321	0.655000	0.94253	GAG	LEPRE1	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	ENSG00000117385		0.582	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	51	0.00	0	C	NM_022356		43213080	43213080	-1	no_errors	ENST00000236040	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	1.000	T
LILRA3	11026	genome.wustl.edu	37	19	54802103	54802103	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:54802103G>A	ENST00000251390.3	-	6	1176	c.1085C>T	c.(1084-1086)gCa>gTa	p.A362V	LILRA3_ENST00000391745.1_Missense_Mutation_p.A379V|LILRA3_ENST00000391744.3_Missense_Mutation_p.A298V	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	362	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAATCAGCTGCCCCCTCCTT	0.597																																						dbGAP											0													105.0	93.0	97.0					19																	54802103		2194	4160	6354	-	-	-	SO:0001583	missense	0			U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1085C>T	19.37:g.54802103G>A	ENSP00000251390:p.Ala362Val		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.A362V	ENST00000251390.3	37	c.1085	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	G	10.31	1.315586	0.23908	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00700	5.82;5.82;5.82	2.53	0.162	0.14981	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.574950	0.04163	N	0.323362	T	0.01421	0.0046	L	0.49455	1.56	0.09310	N	1	B;B	0.25563	0.129;0.09	B;B	0.37943	0.246;0.261	T	0.49399	-0.8944	10	0.66056	D	0.02	.	2.8472	0.05547	0.1623:0.0:0.5638:0.2739	.	362;362	E7EU74;Q8N6C8	.;LIRA3_HUMAN	V	362;298;379	ENSP00000251390:A362V;ENSP00000375624:A298V;ENSP00000375625:A379V	ENSP00000251390:A362V	A	-	2	0	LILRA3	59493915	0.004000	0.15560	0.000000	0.03702	0.003000	0.03518	0.162000	0.16501	0.130000	0.18549	0.591000	0.81541	GCA	LILRA3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	ENSG00000170866		0.597	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	175	0.00	0	G			54802103	54802103	-1	no_errors	ENST00000251390	ensembl	human	known	69_37n	missense	109	11.29	14	SNP	0.000	A
LILRA1	11024	genome.wustl.edu	37	19	55110880	55110880	+	Intron	SNP	C	C	G	rs7260424	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:55110880C>G	ENST00000251372.3	+	8	1494				LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TTCTTCAACACCTTTAATGAT	0.348																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1312+129C>G	19.37:g.55110880C>G			O75018|Q3MJA6	RNA	SNP	-	NULL	ENST00000251372.3	37	NULL	CCDS12901.1	19																																																																																			LILRA1	-	-	ENSG00000104974		0.348	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	55	0.00	0	C	NM_006863		55110880	55110880	+1	no_errors	ENST00000495417	ensembl	human	known	69_37n	rna	25	13.79	4	SNP	0.005	G
LMAN1L	79748	genome.wustl.edu	37	15	75111541	75111541	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:75111541G>A	ENST00000309664.5	+	6	785	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.V216M	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	216	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGAGTTCTGTGTGGATGTGGG	0.597																																						dbGAP											0													206.0	189.0	195.0					15																	75111541		2197	4296	6493	-	-	-	SO:0001583	missense	0			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.646G>A	15.37:g.75111541G>A	ENSP00000310431:p.Val216Met		Q6UWN2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl	p.V216M	ENST00000309664.5	37	c.646	CCDS10270.1	15	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981270	0.34942	.	.	ENSG00000140506	ENST00000309664;ENST00000456603;ENST00000379709	T;T	0.63255	-0.03;-0.03	5.67	-1.58	0.08479	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.955743	0.08714	N	0.904508	T	0.64405	0.2595	L	0.50333	1.59	0.09310	N	1	B;P;P;P	0.50369	0.009;0.919;0.934;0.454	B;P;P;B	0.58331	0.014;0.748;0.837;0.266	T	0.54840	-0.8233	9	.	.	.	.	4.3571	0.11183	0.5119:0.0:0.3239:0.1642	.	108;216;144;216	B4DGW5;Q9HAT1-3;B4DU67;Q9HAT1	.;.;.;LMA1L_HUMAN	M	216;108;216	ENSP00000310431:V216M;ENSP00000369031:V216M	.	V	+	1	0	LMAN1L	72898594	0.000000	0.05858	0.000000	0.03702	0.159000	0.22180	-0.171000	0.09883	-0.136000	0.11475	-0.194000	0.12790	GTG	LMAN1L	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl	ENSG00000140506		0.597	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4	57	0.00	0	G			75111541	75111541	+1	no_errors	ENST00000309664	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.011	A
LMAN1L	79748	genome.wustl.edu	37	15	75117920	75117920	+	Missense_Mutation	SNP	C	C	T	rs201085437	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:75117920C>T	ENST00000309664.5	+	14	1694	c.1555C>T	c.(1555-1557)Cct>Tct	p.P519S	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.P507S|CPLX3_ENST00000395018.4_5'Flank	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	519						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGGAGGCAGCCTCTCCCTGC	0.622																																						dbGAP											0													66.0	68.0	67.0					15																	75117920		2197	4295	6492	-	-	-	SO:0001583	missense	0			AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1555C>T	15.37:g.75117920C>T	ENSP00000310431:p.Pro519Ser		Q6UWN2	Missense_Mutation	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl	p.P519S	ENST00000309664.5	37	c.1555	CCDS10270.1	15	.	.	.	.	.	.	.	.	.	.	C	6.167	0.399034	0.11696	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.42513	0.97;0.97	3.93	3.02	0.34903	.	0.169846	0.28504	N	0.015110	T	0.50240	0.1604	L	0.46157	1.445	0.29000	N	0.887539	D;D	0.76494	0.999;0.998	D;P	0.65443	0.935;0.863	T	0.42531	-0.9446	10	0.87932	D	0	-9.8655	7.3772	0.26835	0.0:0.8831:0.0:0.1169	.	507;519	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	S	519;507	ENSP00000310431:P519S;ENSP00000369031:P507S	ENSP00000310431:P519S	P	+	1	0	LMAN1L	72904973	0.955000	0.32602	0.965000	0.40720	0.021000	0.10359	1.705000	0.37867	1.243000	0.43853	0.561000	0.74099	CCT	LMAN1L	-	NULL	ENSG00000140506		0.622	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4	108	0.00	0	C			75117920	75117920	+1	no_errors	ENST00000309664	ensembl	human	known	69_37n	missense	97	19.17	23	SNP	0.965	T
LRRC14B	389257	genome.wustl.edu	37	5	195144	195144	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:195144C>T	ENST00000328278.3	+	2	1249	c.1221C>T	c.(1219-1221)cgC>cgT	p.R407R	CTD-2083E4.7_ENST00000563761.1_RNA	NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	407										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCCTCCGGCGCCTCTTCACCG	0.692																																						dbGAP											0													35.0	41.0	39.0					5																	195144		1993	4149	6142	-	-	-	SO:0001819	synonymous_variant	0				CCDS47184.1	5p15.33	2010-02-17			ENSG00000185028	ENSG00000185028			37268	protein-coding gene	gene with protein product							Standard	NM_001080478		Approved		uc003jal.1	A6NHZ5	OTTHUMG00000161578	ENST00000328278.3:c.1221C>T	5.37:g.195144C>T				Silent	SNP	NULL	p.R407	ENST00000328278.3	37	c.1221	CCDS47184.1	5																																																																																			LRRC14B	-	NULL	ENSG00000185028		0.692	LRRC14B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC14B	HGNC	protein_coding	OTTHUMT00000365393.2	30	0.00	0	C	NM_001080478		195144	195144	+1	no_errors	ENST00000328278	ensembl	human	novel	69_37n	silent	22	21.43	6	SNP	0.525	T
LRRC31	79782	genome.wustl.edu	37	3	169574572	169574572	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:169574572C>T	ENST00000316428.5	-	4	633	c.576G>A	c.(574-576)caG>caA	p.Q192Q	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Silent_p.Q136Q|LRRC31_ENST00000523069.1_Silent_p.Q192Q	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	192										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTTGGAACTTCTGAAGGATCA	0.403																																						dbGAP											0													107.0	99.0	101.0					3																	169574572		1837	4097	5934	-	-	-	SO:0001819	synonymous_variant	0			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.576G>A	3.37:g.169574572C>T			B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.Q192	ENST00000316428.5	37	c.576	CCDS43167.1	3																																																																																			LRRC31	-	NULL	ENSG00000114248		0.403	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	98	0.00	0	C	NM_024727		169574572	169574572	-1	no_errors	ENST00000316428	ensembl	human	known	69_37n	silent	78	17.02	16	SNP	0.017	T
LRRC37A11P	342666	genome.wustl.edu	37	17	37187647	37187647	+	RNA	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:37187647G>A	ENST00000425901.2	+	0	1489					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		CATATCAAGGGGTAACAGTTC	0.502																																						dbGAP											0																																										-	-	-			0					17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37187647G>A				RNA	SNP	-	NULL	ENST00000425901.2	37	NULL		17																																																																																			LRRC37A11P	-	-	ENSG00000214553		0.502	LRRC37A11P-002	KNOWN	basic	processed_transcript	LRRC37A11P	HGNC	pseudogene	OTTHUMT00000444105.1	189	0.00	0	G	NR_033753		37187647	37187647	+1	no_errors	ENST00000425901	ensembl	human	known	69_37n	rna	141	18.02	31	SNP	0.000	A
LRRC41	10489	genome.wustl.edu	37	1	46751384	46751384	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:46751384G>A	ENST00000343304.6	-	4	1430	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	382					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					AGGCTGTGGGGCTGAGCTAGC	0.592																																						dbGAP											0													78.0	81.0	80.0					1																	46751384		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1145C>T	1.37:g.46751384G>A	ENSP00000343298:p.Ala382Val		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.A382V	ENST00000343304.6	37	c.1145	CCDS533.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.40|14.40	2.525559|2.525559	0.44969|0.44969	.|.	.|.	ENSG00000132128|ENSG00000132128	ENST00000343304;ENST00000371972|ENST00000254454	T|.	0.47177|.	0.85|.	5.51|5.51	2.62|2.62	0.31277|0.31277	.|.	0.648402|.	0.15602|.	N|.	0.253853|.	T|T	0.25901|0.25901	0.0631|0.0631	N|N	0.14661|0.14661	0.345|0.345	0.23869|0.23869	N|N	0.996612|0.996612	B;B;B|.	0.06786|.	0.0;0.001;0.0|.	B;B;B|.	0.08055|.	0.001;0.003;0.002|.	T|T	0.21724|0.21724	-1.0237|-1.0237	10|6	0.36615|0.87932	T|D	0.2|0	-1.2298|-1.2298	9.0238|9.0238	0.36215|0.36215	0.2322:0.0:0.7678:0.0|0.2322:0.0:0.7678:0.0	.|.	382;360;382|.	Q15345-3;E9PE58;Q15345|.	.;.;LRC41_HUMAN|.	V|S	382;360|211	ENSP00000343298:A382V|.	ENSP00000343298:A382V|ENSP00000254454:P211S	A|P	-|-	2|1	0|0	LRRC41|LRRC41	46523971|46523971	0.911000|0.911000	0.30947|0.30947	0.992000|0.992000	0.48379|0.48379	0.948000|0.948000	0.59901|0.59901	1.302000|1.302000	0.33459|0.33459	0.295000|0.295000	0.22570|0.22570	-0.477000|-0.477000	0.04895|0.04895	GCC|CCC	LRRC41	-	NULL	ENSG00000132128		0.592	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	210	0.00	0	G	NM_006369		46751384	46751384	-1	no_errors	ENST00000343304	ensembl	human	known	69_37n	missense	285	11.73	38	SNP	0.879	A
LRRC46	90506	genome.wustl.edu	37	17	45914450	45914450	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:45914450C>T	ENST00000269025.4	+	8	1293	c.930C>T	c.(928-930)agC>agT	p.S310S		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	310										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGGCCCCCAGCACAACCAAAA	0.577																																						dbGAP											0													63.0	67.0	66.0					17																	45914450		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11518.1	17q21.32	2005-08-09				ENSG00000141294			25047	protein-coding gene	gene with protein product						12477932	Standard	NM_033413		Approved	MGC16309	uc002ima.3	Q96FV0		ENST00000269025.4:c.930C>T	17.37:g.45914450C>T			A8K9Q0	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S310	ENST00000269025.4	37	c.930	CCDS11518.1	17																																																																																			LRRC46	-	NULL	ENSG00000141294		0.577	LRRC46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC46	HGNC	protein_coding	OTTHUMT00000441377.1	69	0.00	0	C	NM_033413		45914450	45914450	+1	no_errors	ENST00000269025	ensembl	human	known	69_37n	silent	25	48.98	24	SNP	0.007	T
LRRC8B	23507	genome.wustl.edu	37	1	90049388	90049388	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:90049388G>A	ENST00000330947.2	+	5	1539	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E	LRRC8B_ENST00000439853.1_Silent_p.E393E|LRRC8B_ENST00000358200.4_Silent_p.E393E|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	393					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGGTCAGTGAGAACAAACTGA	0.393																																						dbGAP											0													78.0	78.0	78.0					1																	90049388		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1179G>A	1.37:g.90049388G>A			D3DT28|Q6UY21|Q8N106|Q92627	Silent	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E393	ENST00000330947.2	37	c.1179	CCDS724.1	1																																																																																			LRRC8B	-	NULL	ENSG00000197147		0.393	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	219	0.00	0	G	NM_015350		90049388	90049388	+1	no_errors	ENST00000330947	ensembl	human	known	69_37n	silent	154	12.92	23	SNP	1.000	A
LRRTM4	80059	genome.wustl.edu	37	2	77746143	77746143	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:77746143C>T	ENST00000409093.1	-	3	1188	c.852G>A	c.(850-852)ttG>ttA	p.L284L	LRRTM4_ENST00000409884.1_Silent_p.L284L|LRRTM4_ENST00000409911.1_Silent_p.L285L|LRRTM4_ENST00000409088.3_Silent_p.L284L|LRRTM4_ENST00000409282.1_Silent_p.L285L			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	284					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGTTGGAATCCAAATTCAATT	0.403																																						dbGAP											0													51.0	47.0	48.0					2																	77746143		1852	4101	5953	-	-	-	SO:0001819	synonymous_variant	0			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.852G>A	2.37:g.77746143C>T			Q4FZ98|Q6UXJ7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L285	ENST00000409093.1	37	c.855	CCDS46346.1	2																																																																																			LRRTM4	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000176204		0.403	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	HGNC	protein_coding	OTTHUMT00000328225.1	58	0.00	0	C	NM_024993		77746143	77746143	-1	no_errors	ENST00000409911	ensembl	human	known	69_37n	silent	48	14.29	8	SNP	1.000	T
LRTM2	654429	genome.wustl.edu	37	12	1940375	1940375	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:1940375C>A	ENST00000543818.1	+	4	1184	c.342C>A	c.(340-342)gaC>gaA	p.D114E	CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.D114E|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.D114E|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	114						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TTTTCGGGGACCTGACGAATC	0.632																																						dbGAP											0													50.0	58.0	55.0					12																	1940375		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.342C>A	12.37:g.1940375C>A	ENSP00000446278:p.Asp114Glu		A7E2U6	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.D114E	ENST00000543818.1	37	c.342	CCDS31726.1	12	.	.	.	.	.	.	.	.	.	.	C	12.40	1.925656	0.34002	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041	T;T;T	0.58060	0.36;0.36;0.36	5.04	4.15	0.48705	.	0.047238	0.85682	D	0.000000	T	0.39200	0.1069	N	0.16368	0.405	0.47276	D	0.999377	B	0.32731	0.382	B	0.36464	0.225	T	0.13791	-1.0496	10	0.20519	T	0.43	.	15.4367	0.75152	0.0:0.7387:0.2613:0.0	.	114	Q8N967	LRTM2_HUMAN	E	114	ENSP00000446278:D114E;ENSP00000299194:D114E;ENSP00000444737:D114E	ENSP00000299194:D114E	D	+	3	2	LRTM2	1810636	1.000000	0.71417	0.975000	0.42487	0.528000	0.34623	1.460000	0.35244	1.113000	0.41760	0.561000	0.74099	GAC	LRTM2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000166159		0.632	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM2	HGNC	protein_coding	OTTHUMT00000398055.1	55	0.00	0	C			1940375	1940375	+1	no_errors	ENST00000299194	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	0.998	A
LTBP2	4053	genome.wustl.edu	37	14	74976478	74976478	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:74976478T>C	ENST00000261978.4	-	21	3622	c.3236A>G	c.(3235-3237)gAg>gGg	p.E1079G	LTBP2_ENST00000556690.1_Missense_Mutation_p.E1079G	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1079	Cys-rich.|EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTACCCGTTCTCACAGGCAGA	0.582																																						dbGAP											0													80.0	76.0	77.0					14																	74976478		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3236A>G	14.37:g.74976478T>C	ENSP00000261978:p.Glu1079Gly		Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E1079G	ENST00000261978.4	37	c.3236	CCDS9831.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.651|3.651	-0.071588|-0.071588	0.07228|0.07228	.|.	.|.	ENSG00000119681|ENSG00000119681	ENST00000261978;ENST00000556690|ENST00000556206	D;D|.	0.92495|.	-3.05;-2.22|.	5.0|5.0	3.79|3.79	0.43588|0.43588	Growth factor, receptor (1);EGF-like calcium-binding (2);|.	0.239574|.	0.21605|.	N|.	0.071887|.	T|.	0.20007|.	0.0481|.	N|N	0.12887|0.12887	0.27|0.27	0.09310|0.09310	N|N	1|1	B|.	0.17852|.	0.024|.	B|.	0.27076|.	0.076|.	T|.	0.12192|.	-1.0557|.	10|.	0.19147|.	T|.	0.46|.	.|.	5.8719|5.8719	0.18809|0.18809	0.1594:0.0853:0.0:0.7553|0.1594:0.0853:0.0:0.7553	.|.	1079|.	Q14767|.	LTBP2_HUMAN|.	G|W	1079|11	ENSP00000261978:E1079G;ENSP00000451477:E1079G|.	ENSP00000261978:E1079G|.	E|X	-|-	2|3	0|0	LTBP2|LTBP2	74046231|74046231	0.040000|0.040000	0.19996|0.19996	0.298000|0.298000	0.25002|0.25002	0.062000|0.062000	0.15995|0.15995	1.295000|1.295000	0.33377|0.33377	2.086000|2.086000	0.62901|0.62901	0.460000|0.460000	0.39030|0.39030	GAG|TGA	LTBP2	-	pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000119681		0.582	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	47	0.00	0	T	NM_000428		74976478	74976478	-1	no_errors	ENST00000261978	ensembl	human	known	69_37n	missense	13	26.32	5	SNP	0.008	C
LTF	4057	genome.wustl.edu	37	3	46479439	46479439	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:46479439G>A	ENST00000231751.4	-	16	2385	c.2090C>T	c.(2089-2091)tCa>tTa	p.S697L	LTF_ENST00000417439.1_Missense_Mutation_p.S695L|LTF_ENST00000493056.1_5'Flank|LTF_ENST00000426532.2_Missense_Mutation_p.S653L	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	697					antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		ACGGGAGGTTGAGCACTTTTT	0.473																																						dbGAP											0													211.0	199.0	203.0					3																	46479439		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.2090C>T	3.37:g.46479439G>A	ENSP00000231751:p.Ser697Leu		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Missense_Mutation	SNP	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	p.S697L	ENST00000231751.4	37	c.2090	CCDS33747.1	3	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571409	0.45798	.	.	ENSG00000012223	ENST00000231751;ENST00000426532;ENST00000417439;ENST00000443496	T;T;T;T	0.06371	3.31;3.31;3.31;3.31	5.1	4.23	0.50019	.	0.328268	0.27876	N	0.017488	T	0.22975	0.0555	M	0.80422	2.495	0.42739	D	0.993737	B;D;B	0.89917	0.035;1.0;0.035	B;D;B	0.81914	0.054;0.995;0.054	T	0.01018	-1.1479	10	0.41790	T	0.15	-19.9971	10.0508	0.42214	0.095:0.0:0.905:0.0	.	695;684;697	E7ER44;E7EQB2;P02788	.;.;TRFL_HUMAN	L	697;653;695;684	ENSP00000231751:S697L;ENSP00000405719:S653L;ENSP00000405546:S695L;ENSP00000397427:S684L	ENSP00000231751:S697L	S	-	2	0	LTF	46454443	0.999000	0.42202	0.373000	0.26003	0.084000	0.17831	3.194000	0.51005	1.472000	0.48140	0.650000	0.86243	TCA	LTF	-	smart_Peptidase_S60,pirsf_Transferrin	ENSG00000012223		0.473	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LTF	HGNC	protein_coding	OTTHUMT00000343951.2	139	0.00	0	G	NM_002343		46479439	46479439	-1	no_errors	ENST00000231751	ensembl	human	known	69_37n	missense	126	15.89	24	SNP	0.956	A
MAB21L3	126868	genome.wustl.edu	37	1	116666917	116666917	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:116666917C>T	ENST00000369500.3	+	4	685	c.420C>T	c.(418-420)gcC>gcT	p.A140A	MAB21L3_ENST00000464946.1_3'UTR	NM_152367.2	NP_689580.2	Q8N8X9	MB213_HUMAN	mab-21-like 3 (C. elegans)	140										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TTGTGCCTGCCAAGGTCCTCC	0.532																																						dbGAP											0													113.0	105.0	108.0					1																	116666917		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096035	CCDS886.1	1p13.1	2011-02-23	2011-02-23	2011-02-23	ENSG00000173212	ENSG00000173212			26787	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 161"""	C1orf161		14702039	Standard	NM_152367		Approved	FLJ38716	uc001egc.1	Q8N8X9	OTTHUMG00000012110	ENST00000369500.3:c.420C>T	1.37:g.116666917C>T			Q5TDL7	Silent	SNP	pfam_Mab-21_dom	p.A140	ENST00000369500.3	37	c.420	CCDS886.1	1																																																																																			MAB21L3	-	pfam_Mab-21_dom	ENSG00000173212		0.532	MAB21L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L3	HGNC	protein_coding	OTTHUMT00000033486.1	108	0.00	0	C	NM_152367		116666917	116666917	+1	no_errors	ENST00000369500	ensembl	human	known	69_37n	silent	107	10.08	12	SNP	0.930	T
MADD	8567	genome.wustl.edu	37	11	47330183	47330183	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:47330183G>A	ENST00000311027.5	+	25	3966	c.3801G>A	c.(3799-3801)ctG>ctA	p.L1267L	MADD_ENST00000395336.3_Silent_p.L1267L|MADD_ENST00000402799.1_Silent_p.L1186L|MADD_ENST00000406482.1_Silent_p.L1186L|MADD_ENST00000407859.3_Silent_p.L1206L|MADD_ENST00000342922.4_Silent_p.L1229L|MADD_ENST00000405573.2_Silent_p.L77L|MADD_ENST00000402192.2_Silent_p.L1228L|MADD_ENST00000349238.3_Silent_p.L1249L|MADD_ENST00000395344.3_Silent_p.L1182L	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGGAGAAGCTGGCAGGCAGCC	0.507																																						dbGAP											0													65.0	65.0	65.0					11																	47330183		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3801G>A	11.37:g.47330183G>A				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.L1267	ENST00000311027.5	37	c.3801	CCDS7930.1	11																																																																																			MADD	-	NULL	ENSG00000110514		0.507	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	111	0.00	0	G			47330183	47330183	+1	no_errors	ENST00000311027	ensembl	human	known	69_37n	silent	99	18.85	23	SNP	0.236	A
MAGEB3	4114	genome.wustl.edu	37	X	30254052	30254052	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:30254052G>C	ENST00000361644.2	+	5	748	c.11G>C	c.(10-12)gGt>gCt	p.G4A		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	4										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						ATGCCTCGGGGTCAGAAGAGT	0.552																																						dbGAP											0													57.0	48.0	51.0					X																	30254052		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.11G>C	X.37:g.30254052G>C	ENSP00000355198:p.Gly4Ala		A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.G4A	ENST00000361644.2	37	c.11	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472746	0.43942	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.06068	3.35;3.35	3.98	1.13	0.20643	Melanoma associated antigen, MAGE, N-terminal (1);	0.882169	0.09281	N	0.823744	T	0.16342	0.0393	M	0.79926	2.475	0.09310	N	1	P	0.44260	0.83	P	0.51701	0.677	T	0.13899	-1.0492	10	0.59425	D	0.04	.	5.2988	0.15766	0.12:0.4013:0.4787:0.0	.	4	O15480	MAGB3_HUMAN	A	4	ENSP00000368271:G4A;ENSP00000355198:G4A	ENSP00000355198:G4A	G	+	2	0	MAGEB3	30163973	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.258000	0.18387	0.096000	0.17463	0.513000	0.50165	GGT	MAGEB3	-	pfam_Melanoma_ass_antigen_N	ENSG00000198798		0.552	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	67	0.00	0	G	NM_002365		30254052	30254052	+1	no_errors	ENST00000361644	ensembl	human	known	69_37n	missense	28	36.36	16	SNP	0.000	C
MAGED1	9500	genome.wustl.edu	37	X	51641410	51641410	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:51641410G>A	ENST00000375722.1	+	9	2020	c.1768G>A	c.(1768-1770)Gga>Aga	p.G590R	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.G646R|MAGED1_ENST00000326587.7_Missense_Mutation_p.G590R|MAGED1_ENST00000375772.3_Missense_Mutation_p.G590R			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	590	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|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 branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					ACGCAAGATGGGACTGCGTCC	0.557										Multiple Myeloma(10;0.10)																												dbGAP											0													140.0	118.0	126.0					X																	51641410		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1768G>A	X.37:g.51641410G>A	ENSP00000364874:p.Gly590Arg		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.G646R	ENST00000375722.1	37	c.1936	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	G	13.00	2.105789	0.37145	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.08458	3.09;3.09;3.09;3.09	3.73	3.73	0.42828	.	0.000000	0.36409	N	0.002620	T	0.22704	0.0548	M	0.62016	1.91	0.37890	D	0.930671	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.01884	-1.1254	10	0.59425	D	0.04	.	10.0356	0.42127	0.0:0.0:1.0:0.0	.	646;590	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	R	590;590;590;646	ENSP00000364927:G590R;ENSP00000364874:G590R;ENSP00000325333:G590R;ENSP00000364847:G646R	ENSP00000325333:G590R	G	+	1	0	MAGED1	51658150	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.978000	0.49305	2.121000	0.65114	0.506000	0.49869	GGA	MAGED1	-	pfam_MAGE,pfscan_MAGE	ENSG00000179222		0.557	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	119	0.00	0	G	NM_001005332		51641410	51641410	+1	no_errors	ENST00000375695	ensembl	human	known	69_37n	missense	70	23.91	22	SNP	1.000	A
MAGEA9B	728269	genome.wustl.edu	37	X	148664778	148664778	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:148664778C>T	ENST00000243314.5	-	4	344	c.58G>A	c.(58-60)Gga>Aga	p.G20R		NM_001080790.1	NP_001074259.1	P43362	MAGA9_HUMAN	melanoma antigen family A, 9B	20																	AAGTCCTCTCCTTGGGCTTCA	0.607																																						dbGAP											0													5.0	8.0	7.0					X																	148664778		1037	2206	3243	-	-	-	SO:0001583	missense	0				CCDS35423.1	Xp11	2014-05-06			ENSG00000123584	ENSG00000123584			31909	protein-coding gene	gene with protein product		300764					Standard	NM_001080790		Approved		uc004fdk.3	P43362	OTTHUMG00000188533	ENST00000243314.5:c.58G>A	X.37:g.148664778C>T	ENSP00000243314:p.Gly20Arg		A8K8A7|Q7Z5K4|Q92910	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.G20R	ENST00000243314.5	37	c.58	CCDS35423.1	X	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.644778	0.00792	.	.	ENSG00000123584	ENST00000243314	T	0.04360	3.64	2.15	-4.29	0.03721	Melanoma associated antigen, MAGE, N-terminal (1);	3.800440	0.00357	N	0.000036	T	0.05547	0.0146	L	0.39514	1.22	0.09310	N	1	B	0.10296	0.003	B	0.21546	0.035	T	0.38520	-0.9657	10	0.19590	T	0.45	.	8.8559	0.35227	0.0:0.6665:0.1542:0.1793	.	20	P43362	MAGA9_HUMAN	R	20	ENSP00000243314:G20R	ENSP00000243314:G20R	G	-	1	0	MAGEA9B	148472574	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.810000	0.04505	-2.758000	0.00371	-1.485000	0.00982	GGA	MAGEA9B	-	pfam_Melanoma_ass_antigen_N	ENSG00000123584		0.607	MAGEA9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA9B	HGNC	protein_coding	OTTHUMT00000058697.4	57	0.00	0	C	NM_001080790		148664778	148664778	-1	no_errors	ENST00000243314	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	0.000	T
MAGI1	9223	genome.wustl.edu	37	3	65425638	65425638	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:65425638G>A	ENST00000497477.2	-	9	1185	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	MAGI1_ENST00000402939.2_Missense_Mutation_p.R396W|MAGI1_ENST00000483466.1_Missense_Mutation_p.R396W|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000330909.8_Missense_Mutation_p.R396W			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	396					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)		TGCTTCTTCCGTTTGGCTTCT	0.522											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													154.0	127.0	136.0					3																	65425638		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.1186C>T	3.37:g.65425638G>A	ENSP00000424369:p.Arg396Trp	1084	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.R396W	ENST00000497477.2	37	c.1186		3	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793778	0.70452	.	.	ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257;ENST00000479287	T;T;T;T;T;T;T	0.77750	-0.87;-1.12;-1.12;-1.12;-1.12;-1.12;0.89	5.62	2.67	0.31697	.	0.108055	0.56097	D	0.000023	D	0.85936	0.5813	M	0.65498	2.005	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	0.76071	0.976;0.947;0.987;0.959;0.963	D	0.87197	0.2238	10	0.72032	D	0.01	-8.7098	15.3031	0.73969	0.0:0.0:0.5145:0.4855	.	396;396;396;396;396	Q96QZ7-6;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5	.;.;.;.;.	W	396;396;292;271;396;396;182;146	ENSP00000385450:R396W;ENSP00000331157:R396W;ENSP00000418177:R271W;ENSP00000420323:R396W;ENSP00000424369:R396W;ENSP00000420796:R182W;ENSP00000418044:R146W	ENSP00000331157:R396W	R	-	1	2	MAGI1	65400678	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	0.928000	0.28831	0.682000	0.31407	0.650000	0.86243	CGG	MAGI1	-	NULL	ENSG00000151276		0.522	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	232	0.00	0	G	NM_004742		65425638	65425638	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	134	19.64	33	SNP	0.992	A
MAMLD1	10046	genome.wustl.edu	37	X	149638571	149638571	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:149638571T>G	ENST00000370401.2	+	4	1036	c.726T>G	c.(724-726)agT>agG	p.S242R	MAMLD1_ENST00000455522.2_5'Flank|MAMLD1_ENST00000432680.2_Missense_Mutation_p.S217R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.S217R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.S242R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	242					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCTTCTAGTTGCAGCCAAG	0.502																																						dbGAP											0													183.0	160.0	168.0					X																	149638571		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.726T>G	X.37:g.149638571T>G	ENSP00000359428:p.Ser242Arg		B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.S217R	ENST00000370401.2	37	c.651	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	T	12.75	2.032759	0.35893	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613	T;T;T;T	0.66638	0.17;-0.22;0.17;0.18	5.23	-4.91	0.03085	.	0.138947	0.50627	D	0.000105	T	0.68109	0.2965	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.71674	0.998;0.98;0.989;0.98	P;P;P;P	0.61722	0.862;0.773;0.893;0.773	T	0.67791	-0.5579	9	.	.	.	-7.6285	9.1518	0.36967	0.1087:0.6169:0.1093:0.165	.	204;217;217;242	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	R	204;242;217;242;217	ENSP00000359428:S242R;ENSP00000414517:S217R;ENSP00000262858:S242R;ENSP00000397438:S217R	.	S	+	3	2	MAMLD1	149389229	0.003000	0.15002	0.123000	0.21794	0.307000	0.27823	-1.938000	0.01546	-1.259000	0.02468	-0.460000	0.05396	AGT	MAMLD1	-	NULL	ENSG00000013619		0.502	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	356	0.00	0	T	NM_005491		149638571	149638571	+1	no_errors	ENST00000432680	ensembl	human	known	69_37n	missense	287	21.58	79	SNP	0.340	G
MAN1A1	4121	genome.wustl.edu	37	6	119509722	119509722	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:119509722C>T	ENST00000368468.3	-	11	2008	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	523					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|mannosidase activity (GO:0015923)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AATCTGAAAGCTTCTGGTCCC	0.368																																					Ovarian(136;8 1825 12608 33541 47587)	dbGAP											0													150.0	148.0	149.0					6																	119509722		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025599	CCDS5122.1	6q22	2008-08-29			ENSG00000111885	ENSG00000111885	3.2.1.113		6821	protein-coding gene	gene with protein product		604344				8223597	Standard	NM_005907		Approved		uc003pym.2	P33908	OTTHUMG00000015472	ENST00000368468.3:c.1567G>A	6.37:g.119509722C>T	ENSP00000357453:p.Ala523Thr		E7EU32|Q6P052|Q9NU44|Q9UJI3	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.A523T	ENST00000368468.3	37	c.1567	CCDS5122.1	6	.	.	.	.	.	.	.	.	.	.	C	31	5.075015	0.94000	.	.	ENSG00000111885	ENST00000368468	T	0.72167	-0.63	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	L	0.46947	1.48	0.80722	D	1	D	0.69078	0.997	D	0.67231	0.95	T	0.69079	-0.5240	10	0.28530	T	0.3	-18.2493	20.1621	0.98139	0.0:1.0:0.0:0.0	.	523	P33908	MA1A1_HUMAN	T	523	ENSP00000357453:A523T	ENSP00000357453:A523T	A	-	1	0	MAN1A1	119551421	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.594000	0.82698	2.756000	0.94617	0.655000	0.94253	GCT	MAN1A1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47	ENSG00000111885		0.368	MAN1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1A1	HGNC	protein_coding	OTTHUMT00000042015.1	319	0.00	0	C	NM_005907		119509722	119509722	-1	no_errors	ENST00000368468	ensembl	human	known	69_37n	missense	272	18.81	63	SNP	1.000	T
MAN1B1	11253	genome.wustl.edu	37	9	139983368	139983368	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:139983368G>A	ENST00000371589.4	+	3	449	c.376G>A	c.(376-378)Gct>Act	p.A126T	MAN1B1_ENST00000474902.1_5'Flank|AL807752.1_ENST00000596585.1_5'Flank	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	126					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GCCAGAAATTGCTGGGTTAAA	0.468																																						dbGAP											0													103.0	109.0	107.0					9																	139983368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.376G>A	9.37:g.139983368G>A	ENSP00000360645:p.Ala126Thr		Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.A126T	ENST00000371589.4	37	c.376	CCDS7029.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.393|7.393	0.631212|0.631212	0.14322|0.14322	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000371589|ENST00000535144	T|.	0.72282|.	-0.64|.	3.1|3.1	-0.202|-0.202	0.13208|0.13208	.|.	0.078595|.	0.51477|.	U|.	0.000095|.	T|T	0.08846|0.08846	0.0219|0.0219	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	0.999999|0.999999	B;B;B;B|.	0.15930|.	0.0;0.001;0.0;0.015|.	B;B;B;B|.	0.15484|.	0.0;0.001;0.0;0.013|.	T|T	0.31558|0.31558	-0.9939|-0.9939	9|5	.|.	.|.	.|.	.|.	3.5731|3.5731	0.07925|0.07925	0.1719:0.567:0.1611:0.1001|0.1719:0.567:0.1611:0.1001	.|.	27;90;126;27|.	B4DPS9;B4DR05;Q9UKM7;Q68D80|.	.;.;MA1B1_HUMAN;.|.	T|Y	126|99	ENSP00000360645:A126T|.	.|.	A|C	+|+	1|2	0|0	MAN1B1|MAN1B1	139103189|139103189	0.070000|0.070000	0.21116|0.21116	0.001000|0.001000	0.08648|0.08648	0.055000|0.055000	0.15305|0.15305	0.110000|0.110000	0.15437|0.15437	-0.535000|-0.535000	0.06307|0.06307	-1.332000|-1.332000	0.01269|0.01269	GCT|TGC	MAN1B1	-	NULL	ENSG00000177239		0.468	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1B1	HGNC	protein_coding	OTTHUMT00000055294.2	61	0.00	0	G	NM_016219		139983368	139983368	+1	no_errors	ENST00000371589	ensembl	human	known	69_37n	missense	79	12.22	11	SNP	0.006	A
MAN2A2	4122	genome.wustl.edu	37	15	91456166	91456166	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:91456166G>A	ENST00000559717.1	+	17	2988	c.2529G>A	c.(2527-2529)gaG>gaA	p.E843E	MAN2A2_ENST00000431652.2_Silent_p.E351E|MAN2A2_ENST00000360468.3_Silent_p.E843E|MAN2A2_ENST00000430376.2_Silent_p.E33E			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	843					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	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)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TCTTCTCAGAGGTGGTTGCGT	0.562																																						dbGAP											0													126.0	114.0	118.0					15																	91456166		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.2529G>A	15.37:g.91456166G>A			A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	pfam_Glyco_hydro_38_C,superfamily_Glyco_hydro-type_carb-bd	p.G53S	ENST00000559717.1	37	c.157	CCDS32332.1	15																																																																																			MAN2A2	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000196547		0.562	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A2	HGNC	protein_coding	OTTHUMT00000418246.5	42	0.00	0	G	NM_006122		91456166	91456166	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000561448	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	A
MAPK1IP1L	93487	genome.wustl.edu	37	14	55529834	55529834	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:55529834C>T	ENST00000395468.4	+	3	694	c.517C>T	c.(517-519)Cca>Tca	p.P173S		NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	173	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						ATCTCCAGGCCCATATCCCGC	0.607																																						dbGAP											0													63.0	56.0	58.0					14																	55529834		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 32"", ""mitogen activated protein kinase 1 interacting protein 1-like"""	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.517C>T	14.37:g.55529834C>T	ENSP00000378851:p.Pro173Ser		B2RDD8|Q96BG5	Missense_Mutation	SNP	NULL	p.P173S	ENST00000395468.4	37	c.517	CCDS32085.1	14	.	.	.	.	.	.	.	.	.	.	.	13.83	2.353559	0.41700	.	.	ENSG00000168175	ENST00000395468	.	.	.	4.95	4.95	0.65309	.	0.000000	0.52532	D	0.000062	T	0.57562	0.2062	N	0.19112	0.55	0.33518	D	0.592026	D	0.76494	0.999	D	0.72075	0.976	T	0.63906	-0.6531	9	0.32370	T	0.25	-0.702	16.5573	0.84488	0.0:1.0:0.0:0.0	.	173	Q8NDC0	MISSL_HUMAN	S	173	.	ENSP00000378851:P173S	P	+	1	0	MAPK1IP1L	54599587	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	4.040000	0.57333	2.580000	0.87095	0.655000	0.94253	CCA	MAPK1IP1L	-	NULL	ENSG00000168175		0.607	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK1IP1L	HGNC	protein_coding	OTTHUMT00000411302.2	86	0.00	0	C	NM_144578		55529834	55529834	+1	no_errors	ENST00000395468	ensembl	human	known	69_37n	missense	105	22.79	31	SNP	1.000	T
MAST1	22983	genome.wustl.edu	37	19	12981647	12981647	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:12981647G>A	ENST00000251472.4	+	23	3052	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K	AC020934.1_ENST00000578125.1_RNA	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCATGTGGAGGAAGGAGGCCC	0.557																																						dbGAP											0													111.0	116.0	115.0					19																	12981647		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.3013G>A	19.37:g.12981647G>A	ENSP00000251472:p.Glu1005Lys			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.E1005K	ENST00000251472.4	37	c.3013	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684072	0.68157	.	.	ENSG00000105613	ENST00000251472	T	0.25749	1.78	4.39	4.39	0.52855	PDZ/DHR/GLGF (4);	0.172767	0.49916	D	0.000131	T	0.33789	0.0875	L	0.31207	0.915	0.48975	D	0.99973	P	0.42296	0.775	P	0.54431	0.752	T	0.15178	-1.0446	10	0.72032	D	0.01	-14.2936	14.8064	0.69959	0.0:0.0:1.0:0.0	.	1005	Q9Y2H9	MAST1_HUMAN	K	1005	ENSP00000251472:E1005K	ENSP00000251472:E1005K	E	+	1	0	MAST1	12842647	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	7.619000	0.83057	2.149000	0.67028	0.462000	0.41574	GAA	MAST1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000105613		0.557	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	82	0.00	0	G	NM_014975		12981647	12981647	+1	no_errors	ENST00000251472	ensembl	human	known	69_37n	missense	58	45.28	48	SNP	1.000	A
MBD5	55777	genome.wustl.edu	37	2	149240919	149240919	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:149240919G>A	ENST00000407073.1	+	10	3756	c.2759G>A	c.(2758-2760)aGt>aAt	p.S920N	MBD5_ENST00000404807.1_Missense_Mutation_p.S920N	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	920					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGCCTCCTCAGTTCTCTACCT	0.463																																						dbGAP											0													230.0	226.0	227.0					2																	149240919		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2759G>A	2.37:g.149240919G>A	ENSP00000386049:p.Ser920Asn		A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.S920N	ENST00000407073.1	37	c.2759	CCDS33302.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.455|6.455	0.452137|0.452137	0.12283|0.12283	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000407073;ENST00000404807|ENST00000416015	T;T|.	0.48522|.	0.81;0.87|.	5.66|5.66	2.5|2.5	0.30297|0.30297	.|.	0.159948|.	0.44902|.	N|.	0.000405|.	T|T	0.22205|0.22205	0.0535|0.0535	N|N	0.04508|0.04508	-0.205|-0.205	0.34838|0.34838	D|D	0.740434|0.740434	B|.	0.06786|.	0.001|.	B|.	0.04013|.	0.001|.	T|T	0.19745|0.19745	-1.0296|-1.0296	10|5	0.27785|.	T|.	0.31|.	-1.7865|-1.7865	5.5994|5.5994	0.17345|0.17345	0.3168:0.1318:0.5514:0.0|0.3168:0.1318:0.5514:0.0	.|.	920|.	Q9P267|.	MBD5_HUMAN|.	N|I	920|660	ENSP00000386049:S920N;ENSP00000384672:S920N|.	ENSP00000384672:S920N|.	S|V	+|+	2|1	0|0	MBD5|MBD5	148957389|148957389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	1.091000|1.091000	0.30915|0.30915	0.633000|0.633000	0.30452|0.30452	0.462000|0.462000	0.41574|0.41574	AGT|GTT	MBD5	-	NULL	ENSG00000204406		0.463	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	374	0.00	0	G			149240919	149240919	+1	no_errors	ENST00000407073	ensembl	human	known	69_37n	missense	385	16.12	74	SNP	1.000	A
MCM2	4171	genome.wustl.edu	37	3	127323876	127323876	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:127323876G>A	ENST00000265056.7	+	4	794	c.550G>A	c.(550-552)Gag>Aag	p.E184K		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	184	Interaction with KAT7. {ECO:0000250}.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|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)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CTCTGTGCGCGAGTGGGTGAG	0.647																																						dbGAP											0													72.0	73.0	72.0					3																	127323876		2203	4300	6503	-	-	-	SO:0001583	missense	0			X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.550G>A	3.37:g.127323876G>A	ENSP00000265056:p.Glu184Lys		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,pfam_MCM_2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_2,prints_MCM_DNA-dep_ATPase	p.E184K	ENST00000265056.7	37	c.550	CCDS3043.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.810362	0.96975	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.02812	4.15	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	M	0.85299	2.745	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79108	0.992;0.935;0.974	T	0.00780	-1.1569	10	0.66056	D	0.02	-36.8792	18.6857	0.91563	0.0:0.0:1.0:0.0	.	165;54;184	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	K	184;88;165	ENSP00000265056:E184K	ENSP00000265056:E184K	E	+	1	0	MCM2	128806566	1.000000	0.71417	0.942000	0.38095	0.989000	0.77384	9.835000	0.99442	2.406000	0.81754	0.591000	0.81541	GAG	MCM2	-	NULL	ENSG00000073111		0.647	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM2	HGNC	protein_coding	OTTHUMT00000356612.1	52	0.00	0	G			127323876	127323876	+1	no_errors	ENST00000265056	ensembl	human	known	69_37n	missense	44	10.20	5	SNP	1.000	A
MECOM	2122	genome.wustl.edu	37	3	168807967	168807967	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:168807967G>A	ENST00000464456.1	-	13	3831	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D	MECOM_ENST00000472280.1_Silent_p.D887D|MECOM_ENST00000460814.1_Silent_p.D877D|MECOM_ENST00000494292.1_Silent_p.D1065D|MECOM_ENST00000433243.2_Silent_p.D887D|MECOM_ENST00000264674.3_Silent_p.D951D|MECOM_ENST00000468789.1_Silent_p.D886D|MECOM_ENST00000392736.3_Silent_p.D886D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CATCCAGCAAGTCTGAATTTT	0.353																																						dbGAP											0													150.0	148.0	149.0					3																	168807967		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2631C>T	3.37:g.168807967G>A			Q13466|Q6FH90	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.D1065	ENST00000464456.1	37	c.3195	CCDS54669.1	3																																																																																			MECOM	-	NULL	ENSG00000085276		0.353	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	371	0.00	0	G	NM_005241, NM_004991		168807967	168807967	-1	no_errors	ENST00000494292	ensembl	human	known	69_37n	silent	266	16.82	54	SNP	0.420	A
MED21	9412	genome.wustl.edu	37	12	27181288	27181288	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:27181288G>A	ENST00000282892.3	+	4	359	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	MED21_ENST00000536503.1_3'UTR|MED21_ENST00000546323.1_Missense_Mutation_p.R110Q	NM_001271811.1|NM_004264.3	NP_001258740.1|NP_004255.2	Q13503	MED21_HUMAN	mediator complex subunit 21	110					blastocyst development (GO:0001824)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)	DNA-directed RNA polymerase activity (GO:0003899)|transcription coactivator activity (GO:0003713)					Colorectal(261;0.0847)					GTTGTTTATCGAGGAGACATG	0.413																																						dbGAP											0													183.0	177.0	179.0					12																	27181288		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46837	CCDS8711.1	12p12	2007-07-30	2007-07-30	2007-07-30		ENSG00000152944			11473	protein-coding gene	gene with protein product		603800	"""SRB7 (suppressor of RNA polymerase B, yeast) homolog"", ""SRB7 suppressor of RNA polymerase B homolog (yeast)"""	SURB7		8598913	Standard	NM_004264		Approved	SRB7	uc001rhp.2	Q13503		ENST00000282892.3:c.329G>A	12.37:g.27181288G>A	ENSP00000282892:p.Arg110Gln		B2R4I3|Q6IB05|Q92811	Missense_Mutation	SNP	pfam_Mediator_Med21	p.R110Q	ENST00000282892.3	37	c.329	CCDS8711.1	12	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442518	0.63067	.	.	ENSG00000152944	ENST00000546323;ENST00000282892	.	.	.	5.72	3.86	0.44501	.	0.059243	0.64402	D	0.000003	T	0.39600	0.1084	L	0.46614	1.455	0.53688	D	0.999971	P	0.39576	0.679	B	0.31442	0.13	T	0.15694	-1.0428	9	0.27082	T	0.32	-42.8544	11.1748	0.48593	0.0664:0.0:0.8053:0.1283	.	110	Q13503	MED21_HUMAN	Q	110	.	ENSP00000282892:R110Q	R	+	2	0	MED21	27072555	1.000000	0.71417	0.269000	0.24586	0.997000	0.91878	7.247000	0.78257	0.854000	0.35336	0.563000	0.77884	CGA	MED21	-	pfam_Mediator_Med21	ENSG00000152944		0.413	MED21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED21	HGNC	protein_coding	OTTHUMT00000403262.1	317	0.00	0	G	NM_004264		27181288	27181288	+1	no_errors	ENST00000282892	ensembl	human	known	69_37n	missense	260	22.55	76	SNP	0.819	A
MED4	29079	genome.wustl.edu	37	13	48654087	48654087	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:48654087G>A	ENST00000258648.2	-	6	558	c.533C>T	c.(532-534)aCt>aTt	p.T178I	MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.T132I	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	178					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|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 cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CTCTAAATCAGTTGGGTAGGG	0.393																																					Pancreas(38;399 1016 9170 13426 20145)	dbGAP											0													92.0	86.0	88.0					13																	48654087		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.533C>T	13.37:g.48654087G>A	ENSP00000258648:p.Thr178Ile		B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	pfam_Mediator_Med4	p.T178I	ENST00000258648.2	37	c.533	CCDS9408.1	13	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823466	0.90873	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.77398	0.4124	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.995	T	0.76545	-0.2920	9	0.52906	T	0.07	-22.242	18.9634	0.92685	0.0:0.0:1.0:0.0	.	156;178	E9PDW1;Q9NPJ6	.;MED4_HUMAN	I	178;156;132;156	.	ENSP00000258648:T178I	T	-	2	0	MED4	47552088	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.705000	0.98719	2.793000	0.96121	0.563000	0.77884	ACT	MED4	-	pfam_Mediator_Med4	ENSG00000136146		0.393	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MED4	HGNC	protein_coding	OTTHUMT00000044863.1	150	0.00	0	G	NM_014166		48654087	48654087	-1	no_errors	ENST00000258648	ensembl	human	known	69_37n	missense	119	11.85	16	SNP	1.000	A
MEIG1	644890	genome.wustl.edu	37	10	15014823	15014823	+	3'UTR	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:15014823C>T	ENST00000378240.1	+	0	480				MEIG1_ENST00000407572.1_3'UTR|MEIG1_ENST00000467536.1_Intron			Q5JSS6	MEIG1_HUMAN	meiosis/spermiogenesis associated 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				kidney(1)|ovary(1)|prostate(1)	3						GAACTGGCTGCAGATGCATTA	0.408																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS31151.1	10p13	2013-08-05	2013-08-05		ENSG00000197889	ENSG00000197889			23429	protein-coding gene	gene with protein product	"""spermatogenesis associated 39"""	614174	"""meiosis expressed gene 1 homolog (mouse)"""			23258628	Standard	NM_001080836		Approved	bA2K17.3, SPATA39	uc009xjk.1	Q5JSS6	OTTHUMG00000017717	ENST00000378240.1:c.*183C>T	10.37:g.15014823C>T				RNA	SNP	-	NULL	ENST00000378240.1	37	NULL	CCDS31151.1	10																																																																																			MEIG1	-	-	ENSG00000197889		0.408	MEIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIG1	HGNC	protein_coding	OTTHUMT00000046942.1	9	0.00	0	C	XM_927975		15014823	15014823	+1	no_errors	ENST00000477770	ensembl	human	known	69_37n	rna	23	36.11	13	SNP	0.005	T
MGAM	8972	genome.wustl.edu	37	7	141794561	141794561	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:141794561C>T	ENST00000549489.2	+	40	4763	c.4668C>T	c.(4666-4668)atC>atT	p.I1556I	MGAM_ENST00000475668.2_Silent_p.I2452I	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1556	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)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAGCAGATATCTGTGGGTTCT	0.483																																						dbGAP											0													65.0	62.0	63.0					7																	141794561		1861	4100	5961	-	-	-	SO:0001819	synonymous_variant	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.4668C>T	7.37:g.141794561C>T			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.I1556	ENST00000549489.2	37	c.4668	CCDS47727.1	7																																																																																			MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000257335		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	109	0.00	0	C			141794561	141794561	+1	no_errors	ENST00000549489	ensembl	human	known	69_37n	silent	65	30.11	28	SNP	1.000	T
MGEA5	10724	genome.wustl.edu	37	10	103547335	103547335	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:103547335C>T	ENST00000361464.3	-	15	2850				MGEA5_ENST00000439817.1_Intron|MGEA5_ENST00000357797.5_Intron|MGEA5_ENST00000482611.1_Intron	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)						aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		AGATATCTAACCCAACTACAG	0.328																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.2455-55G>A	10.37:g.103547335C>T			B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	RNA	SNP	-	NULL	ENST00000361464.3	37	NULL	CCDS7520.1	10																																																																																			MGEA5	-	-	ENSG00000198408		0.328	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MGEA5	HGNC	protein_coding	OTTHUMT00000049987.1	56	0.00	0	C	NM_012215		103547335	103547335	-1	no_errors	ENST00000462994	ensembl	human	known	69_37n	rna	57	17.39	12	SNP	0.000	T
MICB	4277	genome.wustl.edu	37	6	31475235	31475235	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:31475235G>A	ENST00000252229.6	+	5	1030	c.951G>A	c.(949-951)atG>atA	p.M317I	MICB_ENST00000399150.3_Missense_Mutation_p.M274I|MICB_ENST00000538442.1_Missense_Mutation_p.M285I	NM_005931.3	NP_005922.2			MHC class I polypeptide-related sequence B											NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CTGCTGCTATGCCATGTTTTG	0.458																																						dbGAP											0													127.0	128.0	128.0					6																	31475235		1946	4131	6077	-	-	-	SO:0001583	missense	0				CCDS43449.1, CCDS75422.1, CCDS75423.1	6p21.3	2013-01-11			ENSG00000204516	ENSG00000204516		"""Immunoglobulin superfamily / C1-set domain containing"""	7091	protein-coding gene	gene with protein product		602436				8022771	Standard	NM_005931		Approved	PERB11.2	uc003ntn.4	Q29980	OTTHUMG00000031074	ENST00000252229.6:c.951G>A	6.37:g.31475235G>A	ENSP00000252229:p.Met317Ile			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	p.M317I	ENST00000252229.6	37	c.951	CCDS43449.1	6	.	.	.	.	.	.	.	.	.	.	-	2.217	-0.379233	0.05000	.	.	ENSG00000204516	ENST00000538442;ENST00000399150;ENST00000252229	T;T;T	0.00792	5.69;5.78;5.8	0.732	-1.46	0.08800	.	.	.	.	.	T	0.00109	0.0003	N	0.08118	0	0.09310	N	1	B;B;B	0.23937	0.094;0.0;0.0	B;B;B	0.20577	0.03;0.002;0.003	T	0.35943	-0.9768	9	0.02654	T	1	.	2.28	0.04112	0.0:0.2709:0.3165:0.4126	.	285;274;317	F5H7Q8;A2AC57;Q29980	.;.;MICB_HUMAN	I	285;274;317	ENSP00000442345:M285I;ENSP00000382103:M274I;ENSP00000252229:M317I	ENSP00000252229:M317I	M	+	3	0	MICB	31583214	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	1.079000	0.30766	-1.331000	0.02252	-1.296000	0.01341	ATG	MICB	-	NULL	ENSG00000204516		0.458	MICB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICB	HGNC	protein_coding	OTTHUMT00000076102.3	73	0.00	0	G	NM_005931		31475235	31475235	+1	no_errors	ENST00000252229	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	0.000	A
MID1	4281	genome.wustl.edu	37	X	10450569	10450569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:10450569C>A	ENST00000317552.4	-	5	1364	c.964G>T	c.(964-966)Gag>Tag	p.E322*	MID1_ENST00000380779.1_Nonsense_Mutation_p.E322*|MID1_ENST00000380785.1_Nonsense_Mutation_p.E322*|MID1_ENST00000380780.1_Nonsense_Mutation_p.E322*|MID1_ENST00000453318.2_Nonsense_Mutation_p.E322*|MID1_ENST00000380782.2_Nonsense_Mutation_p.E322*|MID1_ENST00000380787.1_Nonsense_Mutation_p.E322*	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	322	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGATCATTCTCCTTCAGAGAG	0.527																																						dbGAP											0													154.0	128.0	137.0					X																	10450569		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.964G>T	X.37:g.10450569C>A	ENSP00000312678:p.Glu322*		B2RCG2|O75361|Q9BZX5	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E322*	ENST00000317552.4	37	c.964	CCDS14138.1	X	.	.	.	.	.	.	.	.	.	.	C	40	8.193954	0.98699	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000380782;ENST00000454373;ENST00000413894	.	.	.	5.71	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	.	15.7469	0.77953	0.0:0.8668:0.1332:0.0	.	.	.	.	X	322;322;322;322;322;322;322;272;322	.	ENSP00000312678:E322X	E	-	1	0	MID1	10410569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.328000	0.79160	1.150000	0.42419	0.600000	0.82982	GAG	MID1	-	smart_Bbox_C	ENSG00000101871		0.527	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1	274	0.36	1	C			10450569	10450569	-1	no_errors	ENST00000317552	ensembl	human	known	69_37n	nonsense	182	14.55	31	SNP	1.000	A
MIR520F	574464	genome.wustl.edu	37	19	54183234	54183234	+	RNA	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:54183234G>A	ENST00000384824.1	+	0	0				MIR515-1_ENST00000384884.1_RNA|MIR519E_ENST00000385075.1_RNA	NR_030186.1				microRNA 520f																		CTTTCTGTTTGAAAGAAAACA	0.408																																						dbGAP											0													94.0	84.0	87.0					19																	54183234		1568	3582	5150	-	-	-			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207555	ENSG00000207555		"""ncRNAs / Micro RNAs"""	32096	non-coding RNA	RNA, micro				MIRN520F			Standard	NR_030186		Approved	hsa-mir-520f	uc021uzp.1				19.37:g.54183234G>A				RNA	SNP	-	NULL	ENST00000384824.1	37	NULL		19																																																																																			MIR519E	-	-	ENSG00000207810		0.408	MIR520F-201	KNOWN	basic	miRNA	MIR519E	HGNC	miRNA		95	0.00	0	G	NR_030186		54183234	54183234	+1	no_errors	ENST00000385075	ensembl	human	known	69_37n	rna	84	22.94	25	SNP	0.006	A
MKI67	4288	genome.wustl.edu	37	10	129914023	129914023	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:129914023C>T	ENST00000368654.3	-	7	1024	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	217					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)				GACTTCAATTCTCCATAACGG	0.393																																						dbGAP											0													91.0	90.0	90.0					10																	129914023		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.649G>A	10.37:g.129914023C>T	ENSP00000357643:p.Glu217Lys		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E217K	ENST00000368654.3	37	c.649	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	C	15.15	2.748857	0.49257	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.22336	1.96	3.69	1.85	0.25348	.	1.628700	0.03650	N	0.240821	T	0.13157	0.0319	N	0.17082	0.46	0.09310	N	0.999999	P	0.38827	0.649	B	0.33846	0.171	T	0.25222	-1.0138	9	.	.	.	.	7.5752	0.27931	0.0:0.7924:0.0:0.2076	.	217	P46013	KI67_HUMAN	K	217	ENSP00000357643:E217K	.	E	-	1	0	MKI67	129804013	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.624000	0.24462	0.566000	0.29273	0.655000	0.94253	GAA	MKI67	-	NULL	ENSG00000148773		0.393	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	140	0.00	0	C	NM_002417		129914023	129914023	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	missense	119	12.41	17	SNP	0.001	T
MKRN2	23609	genome.wustl.edu	37	3	12613678	12613678	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:12613678G>T	ENST00000170447.7	+	4	585	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S	MKRN2_ENST00000448482.1_Missense_Mutation_p.A148S|MKRN2_ENST00000411987.1_Missense_Mutation_p.A107S	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	150					protein ubiquitination (GO:0016567)	intracellular (GO:0005622)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CTACCTGGATGCCATCAGGAG	0.627																																						dbGAP											0													67.0	68.0	68.0					3																	12613678		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33702.1, CCDS63545.1	3p25	2008-08-13	2008-08-13		ENSG00000075975	ENSG00000075975		"""RING-type (C3HC4) zinc fingers"""	7113	protein-coding gene	gene with protein product		608426				11597136	Standard	NM_014160		Approved	RNF62, HSPC070	uc003bxd.4	Q9H000	OTTHUMG00000155371	ENST00000170447.7:c.448G>T	3.37:g.12613678G>T	ENSP00000170447:p.Ala150Ser		A6NIA2|B3KRC5|B4DPR4|Q8N391|Q96BD4|Q9BUY2|Q9NRY1	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.A150S	ENST00000170447.7	37	c.448	CCDS33702.1	3	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977973	0.92982	.	.	ENSG00000075975	ENST00000170447;ENST00000411987;ENST00000448482	T;T;T	0.28069	2.64;1.63;1.81	5.38	5.38	0.77491	.	0.103814	0.64402	D	0.000003	T	0.54498	0.1862	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;P;P	0.85130	0.997;0.788;0.788	T	0.39251	-0.9623	10	0.23302	T	0.38	.	19.3333	0.94303	0.0:0.0:1.0:0.0	.	107;148;150	B4DPR4;C9J494;Q9H000	.;.;MKRN2_HUMAN	S	150;107;148	ENSP00000170447:A150S;ENSP00000396340:A107S;ENSP00000397983:A148S	ENSP00000170447:A150S	A	+	1	0	MKRN2	12588678	1.000000	0.71417	0.903000	0.35520	0.813000	0.45954	7.918000	0.87506	2.793000	0.96121	0.655000	0.94253	GCC	MKRN2	-	NULL	ENSG00000075975		0.627	MKRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN2	HGNC	protein_coding	OTTHUMT00000339679.1	58	0.00	0	G	NM_014160		12613678	12613678	+1	no_errors	ENST00000170447	ensembl	human	known	69_37n	missense	48	15.79	9	SNP	1.000	T
MLYCD	23417	genome.wustl.edu	37	16	83948797	83948797	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:83948797G>A	ENST00000262430.4	+	5	1204	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	395	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						GGGCGCTGCAGACTCCGCTGA	0.632																																						dbGAP											0													54.0	63.0	60.0					16																	83948797		2123	4231	6354	-	-	-	SO:0001819	synonymous_variant	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.1185G>A	16.37:g.83948797G>A			Q9UNU5|Q9Y3F2	Silent	SNP	pfam_Malonyl_CoA_deC	p.Q395	ENST00000262430.4	37	c.1185	CCDS42206.1	16																																																																																			MLYCD	-	pfam_Malonyl_CoA_deC	ENSG00000103150		0.632	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLYCD	HGNC	protein_coding	OTTHUMT00000433009.1	43	0.00	0	G	NM_012213		83948797	83948797	+1	no_errors	ENST00000262430	ensembl	human	known	69_37n	silent	83	11.70	11	SNP	1.000	A
MMP10	4319	genome.wustl.edu	37	11	102649403	102649403	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:102649403C>T	ENST00000279441.4	-	4	610	c.574G>A	c.(574-576)Gga>Aga	p.G192R		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	192					collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)	Marimastat(DB00786)	TGAATATCTCCATAAAGCCCA	0.443																																						dbGAP											0													110.0	100.0	103.0					11																	102649403		2203	4299	6502	-	-	-	SO:0001583	missense	0			X07820	CCDS8321.1	11q22.3	2008-02-05	2005-08-08		ENSG00000166670	ENSG00000166670	3.4.24.22		7156	protein-coding gene	gene with protein product		185260	"""matrix metalloproteinase 10 (stromelysin 2)"""	STMY2			Standard	NM_002425		Approved		uc001phg.2	P09238	OTTHUMG00000168083	ENST00000279441.4:c.574G>A	11.37:g.102649403C>T	ENSP00000279441:p.Gly192Arg		B2R9X9|Q53HH9	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,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,prints_Pept_M10A_matrixin	p.G192R	ENST00000279441.4	37	c.574	CCDS8321.1	11	.	.	.	.	.	.	.	.	.	.	c	15.42	2.829757	0.50845	.	.	ENSG00000166670	ENST00000279441;ENST00000539681	T;T	0.44881	1.22;0.91	4.38	3.47	0.39725	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.49305	D	0.000155	T	0.77184	0.4093	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85522	0.1204	10	0.87932	D	0	.	12.7862	0.57507	0.0:0.9198:0.0:0.0802	.	192	P09238	MMP10_HUMAN	R	192;181	ENSP00000279441:G192R;ENSP00000441485:G181R	ENSP00000279441:G192R	G	-	1	0	MMP10	102154613	1.000000	0.71417	0.916000	0.36221	0.024000	0.10985	4.510000	0.60455	1.187000	0.43000	0.591000	0.81541	GGA	MMP10	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000166670		0.443	MMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP10	HGNC	protein_coding	OTTHUMT00000398014.1	212	0.00	0	C			102649403	102649403	-1	no_errors	ENST00000279441	ensembl	human	known	69_37n	missense	114	14.93	20	SNP	1.000	T
MMP2	4313	genome.wustl.edu	37	16	55532334	55532335	+	Nonsense_Mutation	DNP	CA	CA	AT			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C|A	C|A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:55532334_55532335CA>AT	ENST00000219070.4	+	11	2252_2253	c.1743_1744CA>AT	c.(1741-1746)taCAtc>taATtc	p.581_582YI>*F	MMP2_ENST00000437642.2_Nonsense_Mutation_p.531_532YI>*F|MMP2_ENST00000570308.1_Nonsense_Mutation_p.505_506YI>*F|MMP2_ENST00000543485.1_Nonsense_Mutation_p.505_506YI>*F	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	581	Required for inhibitor TIMP2 binding.				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)	AGAAGACATACATCTTTGCTGG	0.574																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	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	Exception_encountered	16.37:g.55532334_55532335delinsAT	ENSP00000219070:p.Y581_I582delins*F		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Nonsense_Mutation|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.Y581*|p.I582F	ENST00000219070.4	37	c.1743|c.1744	CCDS10752.1	16																																																																																			MMP2	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat	ENSG00000087245		0.574	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	85|86	0.00	0	C|A			55532334|55532335	55532334|55532335	+1	no_errors	ENST00000219070	ensembl	human	known	69_37n	nonsense|missense	84|86	25.00|15.69	28|16	SNP	1.000	A|T
MOV10	4343	genome.wustl.edu	37	1	113242003	113242003	+	Intron	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:113242003G>A	ENST00000413052.2	+	18	2973				MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Intron|MOV10_ENST00000369645.1_Intron|MOV10_ENST00000369644.1_Intron|RP11-426L16.3_ENST00000421943.1_RNA	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase						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)		cagatacttagtgattgtttt	0.458																																						dbGAP											0																																										-	-	-	SO:0001627	intron_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.2584-304G>A	1.37:g.113242003G>A			Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	RNA	SNP	-	NULL	ENST00000413052.2	37	NULL	CCDS853.1	1																																																																																			MOV10	-	-	ENSG00000155363		0.458	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	8	0.00	0	G	NM_020963		113242003	113242003	+1	no_errors	ENST00000468624	ensembl	human	known	69_37n	rna	9	59.09	13	SNP	0.000	A
MOV10	4343	genome.wustl.edu	37	1	113242153	113242153	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:113242153C>T	ENST00000413052.2	+	18	2973				MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Intron|MOV10_ENST00000369645.1_Intron|MOV10_ENST00000369644.1_Intron|RP11-426L16.3_ENST00000421943.1_RNA	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase						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)		CCTCCCATCCCCTTTCCCTGG	0.542																																						dbGAP											0																																										-	-	-	SO:0001627	intron_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.2584-154C>T	1.37:g.113242153C>T			Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	RNA	SNP	-	NULL	ENST00000413052.2	37	NULL	CCDS853.1	1																																																																																			MOV10	-	-	ENSG00000155363		0.542	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	56	0.00	0	C	NM_020963		113242153	113242153	+1	no_errors	ENST00000468624	ensembl	human	known	69_37n	rna	62	12.68	9	SNP	0.005	T
MOV10	4343	genome.wustl.edu	37	1	113242885	113242885	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:113242885C>T	ENST00000413052.2	+	20	3233	c.2843C>T	c.(2842-2844)cCc>cTc	p.P948L	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.P948L|MOV10_ENST00000369645.1_Missense_Mutation_p.P948L|RP11-426L16.10_ENST00000471038.2_5'Flank|MOV10_ENST00000369644.1_Missense_Mutation_p.P892L	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	948	Interaction with AGO2 and APOBEC3G.				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)		ACCGGGTGTCCCTTCCCTGCC	0.572																																						dbGAP											0													71.0	72.0	72.0					1																	113242885		2203	4300	6503	-	-	-	SO:0001583	missense	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.2843C>T	1.37:g.113242885C>T	ENSP00000399797:p.Pro948Leu		Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.P948L	ENST00000413052.2	37	c.2843	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444553	0.63178	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92348	-3.02;-3.02;-3.01;-3.02	4.96	4.96	0.65561	.	0.314072	0.33610	N	0.004738	D	0.84179	0.5415	L	0.38175	1.15	0.80722	D	1	P	0.38800	0.648	B	0.37780	0.258	D	0.86849	0.2022	10	0.54805	T	0.06	-18.9662	14.0749	0.64885	0.0:1.0:0.0:0.0	.	948	Q9HCE1	MOV10_HUMAN	L	948;948;892;948;886	ENSP00000399797:P948L;ENSP00000358659:P948L;ENSP00000358658:P892L;ENSP00000350028:P948L	ENSP00000350028:P948L	P	+	2	0	MOV10	113044408	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.982000	0.56909	2.453000	0.82957	0.467000	0.42956	CCC	MOV10	-	NULL	ENSG00000155363		0.572	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	98	0.00	0	C	NM_020963		113242885	113242885	+1	no_errors	ENST00000357443	ensembl	human	known	69_37n	missense	71	13.41	11	SNP	1.000	T
MPC1	51660	genome.wustl.edu	37	6	166780345	166780345	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:166780345G>A	ENST00000360961.6	-	3	231	c.110C>T	c.(109-111)cCc>cTc	p.P37L	MPC1_ENST00000341756.6_Missense_Mutation_p.P37L|MPC1_ENST00000487218.1_5'UTR	NM_001270879.1|NM_016098.3	NP_001257808.1|NP_057182.1	Q9Y5U8	MPC1_HUMAN	mitochondrial pyruvate carrier 1	37					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	pyruvate transmembrane transporter activity (GO:0050833)										GGCAGCAATGGGAAGACCCCA	0.413																																						dbGAP											0													106.0	116.0	113.0					6																	166780345		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF125101	CCDS5293.1, CCDS75547.1	6q27	2012-08-01	2012-07-30	2012-07-30	ENSG00000060762	ENSG00000060762			21606	protein-coding gene	gene with protein product		614738	"""brain protein 44-like"""	BRP44L		22628558	Standard	NM_016098		Approved	dJ68L15.3, CGI-129	uc031sra.1	Q9Y5U8	OTTHUMG00000015999	ENST00000360961.6:c.110C>T	6.37:g.166780345G>A	ENSP00000354223:p.Pro37Leu		B2R5I7|Q5TI66|Q9HB67|Q9UQN4	Missense_Mutation	SNP	pfam_UPF0041	p.P37L	ENST00000360961.6	37	c.110	CCDS5293.1	6	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720938	0.89205	.	.	ENSG00000060762	ENST00000360961;ENST00000341756	T;T	0.71934	-0.61;-0.61	5.84	4.97	0.65823	.	0.109289	0.64402	D	0.000006	D	0.85961	0.5819	H	0.96175	3.78	0.80722	D	1	D	0.58620	0.983	D	0.77557	0.99	D	0.89814	0.3984	10	0.72032	D	0.01	-10.9333	12.2996	0.54866	0.081:0.0:0.919:0.0	.	37	Q9Y5U8	BR44L_HUMAN	L	37	ENSP00000354223:P37L;ENSP00000340784:P37L	ENSP00000340784:P37L	P	-	2	0	BRP44L	166700335	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	8.724000	0.91462	1.466000	0.48025	0.655000	0.94253	CCC	MPC1	-	pfam_UPF0041	ENSG00000060762		0.413	MPC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPC1	HGNC	protein_coding	OTTHUMT00000043052.1	175	0.00	0	G	NM_016098		166780345	166780345	-1	no_errors	ENST00000341756	ensembl	human	known	69_37n	missense	157	12.78	23	SNP	1.000	A
MPP3	4356	genome.wustl.edu	37	17	41908940	41908940	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:41908940C>T	ENST00000398389.4	-	4	296	c.131G>A	c.(130-132)aGt>aAt	p.S44N	MPP3_ENST00000398393.1_Missense_Mutation_p.S69N	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	44	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CATTAAGTAACTGAGGCTTTT	0.527																																						dbGAP											0													84.0	88.0	87.0					17																	41908940		2031	4193	6224	-	-	-	SO:0001583	missense	0				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.131G>A	17.37:g.41908940C>T	ENSP00000381425:p.Ser44Asn		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.S44N	ENST00000398389.4	37	c.131	CCDS42344.1	17	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367933	0.42003	.	.	ENSG00000161647	ENST00000398393;ENST00000398389;ENST00000356492	T;T	0.15372	2.43;2.43	5.12	3.13	0.36017	L27, C-terminal (1);L27 (2);	0.343712	0.34133	N	0.004234	T	0.13030	0.0316	N	0.22421	0.69	0.35862	D	0.827566	D;B;B	0.53312	0.959;0.123;0.123	P;B;B	0.47603	0.551;0.134;0.207	T	0.20739	-1.0266	10	0.15952	T	0.53	.	10.0879	0.42430	0.0:0.8448:0.0:0.1552	.	69;44;69	B4DS20;Q13368;D3DX46	.;MPP3_HUMAN;.	N	69;44;69	ENSP00000381430:S69N;ENSP00000381425:S44N	ENSP00000348885:S69N	S	-	2	0	MPP3	39264466	0.996000	0.38824	0.970000	0.41538	0.906000	0.53458	2.719000	0.47244	0.746000	0.32786	0.655000	0.94253	AGT	MPP3	-	pfam_L27_C,smart_L27,pfscan_L27	ENSG00000161647		0.527	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP3	HGNC	protein_coding	OTTHUMT00000258371.1	87	0.00	0	C	NM_001932		41908940	41908940	-1	no_errors	ENST00000398389	ensembl	human	known	69_37n	missense	36	48.61	35	SNP	1.000	T
MPPE1	65258	genome.wustl.edu	37	18	11884558	11884558	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr18:11884558G>A	ENST00000588072.1	-	11	2298	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	GNAL_ENST00000334049.6_3'UTR|MPPE1_ENST00000344987.7_Silent_p.I337I|MPPE1_ENST00000309976.9_Silent_p.I296I|MPPE1_ENST00000317235.7_Silent_p.I296I|MPPE1_ENST00000592755.1_5'UTR	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	359					ER to Golgi vesicle-mediated transport (GO:0006888)|GPI anchor biosynthetic process (GO:0006506)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GPI anchor binding (GO:0034235)|manganese ion binding (GO:0030145)|phosphoric diester hydrolase activity (GO:0008081)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CACAGTAGATGATCAAAACCA	0.512																																						dbGAP											0													141.0	100.0	114.0					18																	11884558		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC002877	CCDS11853.1, CCDS56054.1	18p11.21	2004-04-30			ENSG00000154889	ENSG00000154889			15988	protein-coding gene	gene with protein product		611900				11978971	Standard	NM_001242904		Approved		uc002kqf.3	Q53F39	OTTHUMG00000131661	ENST00000588072.1:c.1077C>T	18.37:g.11884558G>A			B0YJ39|B0YJ40|B0YJ41|B5ME53|B7WNJ3|D3DUI5|D3DUI7|Q6GMP1|Q8TAD6|Q8TE26|Q8WZ32|Q9BU58|Q9H958|Q9HAI4	Silent	SNP	pfam_Metallo_PEstase_dom	p.I359	ENST00000588072.1	37	c.1077	CCDS11853.1	18																																																																																			MPPE1	-	NULL	ENSG00000154889		0.512	MPPE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPPE1	HGNC	protein_coding	OTTHUMT00000254562.2	65	0.00	0	G	NM_023075		11884558	11884558	-1	no_errors	ENST00000588072	ensembl	human	known	69_37n	silent	48	11.11	6	SNP	0.010	A
MRPL9	65005	genome.wustl.edu	37	1	151735311	151735312	+	Intron	DNP	AA	AA	CT			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:151735311_151735312AA>CT	ENST00000368830.3	-	2	395				MRPL9_ENST00000467306.1_Intron|MRPL9_ENST00000368829.3_Intron|RP11-98D18.2_ENST00000420382.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000479764.1_5'Flank|OAZ3_ENST00000315067.8_5'Flank|OAZ3_ENST00000321531.5_5'Flank|RP11-98D18.15_ENST00000601684.1_RNA|OAZ3_ENST00000453029.2_5'Flank	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGTGTCACAATCACAATAGT	0.416																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.311_311delinsCT	1.37:g.151735311_151735312delinsCT			B2RD99|Q5SZR2|Q9BSW8	RNA	SNP	-	NULL	ENST00000368830.3	37	NULL	CCDS1003.1	1																																																																																			MRPL9	-	-	ENSG00000143436		0.416	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL9	HGNC	protein_coding	OTTHUMT00000036653.2	57|56	0.00	0	A	NM_031420		151735311|151735312	151735311|151735312	-1	no_errors	ENST00000462783	ensembl	human	known	69_37n	rna	77	13.48|16.30	12|15	SNP	0.018|0.026	C|T
MRPS27	23107	genome.wustl.edu	37	5	71524187	71524187	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:71524187C>T	ENST00000261413.5	-	8	639	c.600G>A	c.(598-600)gaG>gaA	p.E200E	MRPS27_ENST00000515404.1_Silent_p.E144E|MRPS27_ENST00000457646.4_Silent_p.E144E|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Silent_p.E214E	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	200						mitochondrion (GO:0005739)|ribosome (GO:0005840)				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		AGTTCCTCTCCTCTTCCCACT	0.408																																						dbGAP											0													131.0	127.0	128.0					5																	71524187		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87453	CCDS4013.1, CCDS68890.1, CCDS75257.1	5q13.2	2012-09-13			ENSG00000113048	ENSG00000113048		"""Mitochondrial ribosomal proteins / small subunits"""	14512	protein-coding gene	gene with protein product		611989					Standard	NM_015084		Approved	KIAA0264	uc003kbz.4	Q92552	OTTHUMG00000100951	ENST00000261413.5:c.600G>A	5.37:g.71524187C>T			B4DRT2|Q6P1S1	Silent	SNP	pfam_Ribosomal_S27_mit	p.E214	ENST00000261413.5	37	c.642	CCDS4013.1	5																																																																																			MRPS27	-	pfam_Ribosomal_S27_mit	ENSG00000113048		0.408	MRPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS27	HGNC	protein_coding	OTTHUMT00000218560.2	296	0.00	0	C	NM_015084		71524187	71524187	-1	no_errors	ENST00000513900	ensembl	human	known	69_37n	silent	133	26.52	48	SNP	0.997	T
MSH4	4438	genome.wustl.edu	37	1	76262783	76262783	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:76262783C>G	ENST00000263187.3	+	1	217	c.113C>G	c.(112-114)aCt>aGt	p.T38S		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	38					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTCCAGGAGACTCCACAGAGC	0.652								Mismatch excision repair (MMR)																														dbGAP											0													28.0	30.0	29.0					1																	76262783		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.113C>G	1.37:g.76262783C>G	ENSP00000263187:p.Thr38Ser		Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.T38S	ENST00000263187.3	37	c.113	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	C	9.334	1.061369	0.19987	.	.	ENSG00000057468	ENST00000263187	D	0.87887	-2.31	3.53	1.49	0.22878	.	3.286530	0.01236	N	0.008486	T	0.56877	0.2015	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52845	-0.8521	10	0.38643	T	0.18	.	6.0711	0.19889	0.0:0.6214:0.2631:0.1154	.	38	O15457	MSH4_HUMAN	S	38	ENSP00000263187:T38S	ENSP00000263187:T38S	T	+	2	0	MSH4	76035371	0.231000	0.23751	0.001000	0.08648	0.036000	0.12997	1.162000	0.31786	0.393000	0.25203	0.462000	0.41574	ACT	MSH4	-	NULL	ENSG00000057468		0.652	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	53	0.00	0	C	NM_002440		76262783	76262783	+1	no_errors	ENST00000263187	ensembl	human	known	69_37n	missense	65	39.25	42	SNP	0.006	G
MST1R	4486	genome.wustl.edu	37	3	49940424	49940424	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:49940424C>T	ENST00000296474.3	-	1	646	c.619G>A	c.(619-621)Gtg>Atg	p.V207M	CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.V207M	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	207	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)		CTGGCAGCCACGGCTGCGTCC	0.622																																						dbGAP											0													24.0	26.0	25.0					3																	49940424		2201	4298	6499	-	-	-	SO:0001583	missense	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.619G>A	3.37:g.49940424C>T	ENSP00000296474:p.Val207Met		B5A944|B5A945|B5A946|B5A947	Missense_Mutation	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.V207M	ENST00000296474.3	37	c.619	CCDS2807.1	3	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947324	0.73672	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.04809	3.55;3.55	4.92	4.01	0.46588	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.184678	0.48286	D	0.000193	T	0.14743	0.0356	M	0.72894	2.215	0.37983	D	0.933676	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.997	D;D;D;D;P	0.67725	0.953;0.951;0.953;0.953;0.882	T	0.02126	-1.1209	10	0.56958	D	0.05	-9.5788	5.4512	0.16566	0.1703:0.6664:0.0:0.1633	.	207;207;207;207;207	Q04912-3;Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;.;RON_HUMAN	M	207	ENSP00000296474:V207M;ENSP00000341325:V207M	ENSP00000296474:V207M	V	-	1	0	MST1R	49915428	0.072000	0.21174	0.766000	0.31476	0.770000	0.43624	0.535000	0.23114	0.989000	0.38761	0.561000	0.74099	GTG	MST1R	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000164078		0.622	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	HGNC	protein_coding	OTTHUMT00000345403.1	21	0.00	0	C			49940424	49940424	-1	no_errors	ENST00000296474	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	0.981	T
MSL2	55167	genome.wustl.edu	37	3	135871021	135871021	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:135871021G>A	ENST00000309993.2	-	2	1434	c.702C>T	c.(700-702)agC>agT	p.S234S	MSL2_ENST00000434835.2_Silent_p.S160S	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	234					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CGGGTGGCAGGCTGTCAGACA	0.393																																						dbGAP											0													54.0	63.0	60.0					3																	135871021		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.702C>T	3.37:g.135871021G>A			B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Silent	SNP	pfscan_Znf_RING	p.S234	ENST00000309993.2	37	c.702	CCDS33861.1	3																																																																																			MSL2	-	NULL	ENSG00000174579		0.393	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSL2	HGNC	protein_coding	OTTHUMT00000357347.1	134	0.00	0	G	NM_018133		135871021	135871021	-1	no_errors	ENST00000309993	ensembl	human	known	69_37n	silent	121	12.95	18	SNP	0.062	A
MTHFR	4524	genome.wustl.edu	37	1	11856367	11856367	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:11856367T>C	ENST00000376592.1	-	4	804	c.676A>G	c.(676-678)Atc>Gtc	p.I226V	MTHFR_ENST00000376590.3_Missense_Mutation_p.I226V|MTHFR_ENST00000376583.3_Missense_Mutation_p.I267V|MTHFR_ENST00000376585.1_Missense_Mutation_p.I267V			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	226					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.I226F(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	AGCTGCGTGATGATGAAATCG	0.552																																						dbGAP											1	Substitution - Missense(1)	lung(1)											239.0	217.0	224.0					1																	11856367		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.676A>G	1.37:g.11856367T>C	ENSP00000365777:p.Ile226Val		B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	p.I267V	ENST00000376592.1	37	c.799	CCDS137.1	1	.	.	.	.	.	.	.	.	.	.	T	9.869	1.198401	0.22037	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.08	5.08	0.68730	.	0.045861	0.85682	D	0.000000	D	0.88496	0.6452	L	0.38531	1.155	0.50313	D	0.999866	B;B	0.29378	0.017;0.243	B;B	0.35770	0.122;0.21	D	0.85039	0.0922	10	0.19147	T	0.46	.	14.3472	0.66675	0.0:0.0:0.0:1.0	.	226;267	P42898;Q5SNW6	MTHR_HUMAN;.	V	226;267;226;267	ENSP00000365777:I226V;ENSP00000365767:I267V;ENSP00000365775:I226V;ENSP00000365770:I267V	ENSP00000365767:I267V	I	-	1	0	MTHFR	11778954	1.000000	0.71417	1.000000	0.80357	0.315000	0.28087	3.802000	0.55553	2.035000	0.60131	0.533000	0.62120	ATC	MTHFR	-	pfam_Mehydrof_redctse,tigrfam_Fadh2_euk	ENSG00000177000		0.552	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MTHFR	HGNC	protein_coding	OTTHUMT00000006538.1	97	0.00	0	T	NM_005957		11856367	11856367	-1	no_errors	ENST00000376583	ensembl	human	known	69_37n	missense	62	44.14	49	SNP	1.000	C
MTM1	4534	genome.wustl.edu	37	X	149840106	149840106	+	3'UTR	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:149840106G>A	ENST00000370396.2	+	0	1904				MTM1_ENST00000413012.2_3'UTR|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000543350.1_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1						endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCGAAATAAAGGCGATAGCTG	0.428																																						dbGAP											0													39.0	36.0	37.0					X																	149840106		2203	4299	6502	-	-	-	SO:0001624	3_prime_UTR_variant	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.*38G>A	X.37:g.149840106G>A			A6NDB1|B7Z491|F2Z330|Q8NEL1	RNA	SNP	-	NULL	ENST00000370396.2	37	NULL	CCDS14694.1	X																																																																																			MTM1	-	-	ENSG00000171100		0.428	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	69	0.00	0	G	NM_000252		149840106	149840106	+1	no_errors	ENST00000306167	ensembl	human	known	69_37n	rna	88	13.73	14	SNP	0.000	A
MTSS1	9788	genome.wustl.edu	37	8	125568030	125568030	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:125568030G>A	ENST00000518547.1	-	13	1993	c.1520C>T	c.(1519-1521)aCc>aTc	p.T507I	MTSS1_ENST00000524090.1_Missense_Mutation_p.T397I|MTSS1_ENST00000325064.5_Missense_Mutation_p.T511I|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000354184.4_Missense_Mutation_p.T225I|MTSS1_ENST00000378017.3_Missense_Mutation_p.T482I|MTSS1_ENST00000431961.2_Missense_Mutation_p.T225I|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000395508.2_Missense_Mutation_p.T281I	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	507					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTTGTCTGGGTGCTGTAGCC	0.647																																					Esophageal Squamous(160;622 1893 3862 8546 12509)	dbGAP											0													55.0	45.0	48.0					8																	125568030		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.1520C>T	8.37:g.125568030G>A	ENSP00000429064:p.Thr507Ile		J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom	p.T507I	ENST00000518547.1	37	c.1520	CCDS6353.1	8	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493154	0.84962	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000354184;ENST00000395508;ENST00000325064;ENST00000431961;ENST00000524090	T;T;T;T;T;T;T	0.58358	0.5;0.34;0.62;0.54;0.34;0.62;0.43	5.2	5.2	0.72013	.	0.054028	0.64402	D	0.000001	T	0.73690	0.3619	M	0.73962	2.25	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.96;0.987;0.998;0.997;0.999;0.996;0.976	T	0.76192	-0.3049	10	0.59425	D	0.04	-27.6348	18.7391	0.91767	0.0:0.0:1.0:0.0	.	397;281;482;507;482;225;156	E7EWW5;B7Z3B6;A5YM41;O43312;O43312-4;O43312-2;Q6ZTG0	.;.;.;MTSS1_HUMAN;.;.;.	I	482;507;225;281;511;225;397	ENSP00000367256:T482I;ENSP00000429064:T507I;ENSP00000346119:T225I;ENSP00000378884:T281I;ENSP00000322804:T511I;ENSP00000393606:T225I;ENSP00000428319:T397I	ENSP00000322804:T511I	T	-	2	0	MTSS1	125637211	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.609000	0.61148	2.430000	0.82344	0.561000	0.74099	ACC	MTSS1	-	NULL	ENSG00000170873		0.647	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTSS1	HGNC	protein_coding	OTTHUMT00000109625.3	13	0.00	0	G	NM_014751		125568030	125568030	-1	no_errors	ENST00000518547	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	1.000	A
MUC21	394263	genome.wustl.edu	37	6	30954668	30954668	+	Missense_Mutation	SNP	C	C	T	rs565731131	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:30954668C>T	ENST00000376296.3	+	2	957	c.716C>T	c.(715-717)aCa>aTa	p.T239I	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	239	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGGGCCAGCACAGCCACCAAC	0.652																																						dbGAP											0													139.0	142.0	141.0					6																	30954668		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.716C>T	6.37:g.30954668C>T	ENSP00000365473:p.Thr239Ile		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	NULL	p.T239I	ENST00000376296.3	37	c.716	CCDS34388.1	6	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668552	0.29604	.	.	ENSG00000204544	ENST00000376296	T	0.03212	4.01	4.3	-3.75	0.04372	.	.	.	.	.	T	0.00637	0.0021	N	0.19112	0.55	0.09310	N	1	B	0.30281	0.275	B	0.33454	0.164	T	0.46735	-0.9170	8	.	.	.	.	1.4757	0.02425	0.1234:0.2412:0.2423:0.3931	.	239	Q5SSG8	MUC21_HUMAN	I	239	ENSP00000365473:T239I	.	T	+	2	0	MUC21	31062647	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.238000	0.08977	-1.051000	0.03226	-1.177000	0.01723	ACA	MUC21	-	NULL	ENSG00000204544		0.652	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	HGNC	protein_coding	OTTHUMT00000128579.3	223	0.00	0	C	NM_001010909		30954668	30954668	+1	no_errors	ENST00000376296	ensembl	human	known	69_37n	missense	176	10.66	21	SNP	0.000	T
MUTYH	4595	genome.wustl.edu	37	1	45800078	45800078	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:45800078G>A	ENST00000372098.3	-	2	275	c.142C>T	c.(142-144)Cct>Tct	p.P48S	MUTYH_ENST00000372115.3_Missense_Mutation_p.P48S|MUTYH_ENST00000531105.1_Missense_Mutation_p.P34S|MUTYH_ENST00000372110.3_Missense_Mutation_p.P48S|MUTYH_ENST00000448481.1_Missense_Mutation_p.P34S|MUTYH_ENST00000354383.6_Missense_Mutation_p.P34S|MUTYH_ENST00000528013.2_Missense_Mutation_p.P34S|MUTYH_ENST00000450313.1_Missense_Mutation_p.P48S|MUTYH_ENST00000355498.2_Missense_Mutation_p.P34S|MUTYH_ENST00000529984.1_Missense_Mutation_p.P34S|MUTYH_ENST00000528332.2_Missense_Mutation_p.P48S|MUTYH_ENST00000372104.1_Missense_Mutation_p.P34S|MUTYH_ENST00000456914.2_Missense_Mutation_p.P34S|MUTYH_ENST00000488731.2_Missense_Mutation_p.P34S|MUTYH_ENST00000372100.5_Missense_Mutation_p.P34S			Q9UIF7	MUTYH_HUMAN	mutY homolog	48					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAGGCAGAAGGCTTGGCCTGA	0.547			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																													dbGAP	yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													182.0	137.0	152.0					1																	45800078		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.142C>T	1.37:g.45800078G>A	ENSP00000361170:p.Pro48Ser		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.P48S	ENST00000372098.3	37	c.142	CCDS520.1	1	.	.	.	.	.	.	.	.	.	.	G	5.000	0.185678	0.09495	.	.	ENSG00000132781	ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100;ENST00000531105;ENST00000435155;ENST00000528013;ENST00000483127	T;D;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.91631	2.46;-2.88;3.29;3.27;3.29;3.23;3.29;3.24;3.2;3.27;2.46;3.26;3.27;-0.77;1.94;0.92;0.76	3.98	1.03	0.20045	.	0.169134	0.38778	N	0.001565	D	0.84343	0.5451	L	0.39147	1.195	0.27091	N	0.962846	B;B;B;B;B;B	0.20887	0.049;0.003;0.011;0.006;0.014;0.006	B;B;B;B;B;B	0.25140	0.058;0.002;0.009;0.004;0.005;0.002	T	0.70813	-0.4770	10	0.33141	T	0.24	-2.1639	2.5851	0.04829	0.1048:0.1873:0.5145:0.1934	.	48;48;48;48;48;34	B4DEX2;E5KP25;Q9UIF7-2;Q9UIF7;E5KP27;E5KP28	.;.;.;MUTYH_HUMAN;.;.	S	34;48;34;34;34;34;34;48;48;48;34;48;34;34;34;34;40	ENSP00000437093:P34S;ENSP00000433076:P48S;ENSP00000361176:P34S;ENSP00000409718:P34S;ENSP00000407590:P34S;ENSP00000346354:P34S;ENSP00000347685:P34S;ENSP00000361170:P48S;ENSP00000361182:P48S;ENSP00000361187:P48S;ENSP00000432330:P34S;ENSP00000408176:P48S;ENSP00000361172:P34S;ENSP00000431292:P34S;ENSP00000403655:P34S;ENSP00000433130:P34S;ENSP00000436469:P40S	ENSP00000346354:P34S	P	-	1	0	MUTYH	45572665	0.012000	0.17670	0.625000	0.29200	0.029000	0.11900	0.590000	0.23954	0.246000	0.21394	-0.993000	0.02533	CCT	MUTYH	-	NULL	ENSG00000132781		0.547	MUTYH-002	KNOWN	basic|CCDS	protein_coding	MUTYH	HGNC	protein_coding	OTTHUMT00000020529.1	154	0.00	0	G	NM_012222		45800078	45800078	-1	no_errors	ENST00000450313	ensembl	human	known	69_37n	missense	96	10.28	11	SNP	0.644	A
MYADM	91663	genome.wustl.edu	37	19	54377667	54377667	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:54377667C>T	ENST00000391769.2	+	3	1164	c.884C>T	c.(883-885)gCt>gTt	p.A295V	MYADM_ENST00000391771.1_Missense_Mutation_p.A295V|MYADM_ENST00000391768.2_Missense_Mutation_p.A295V|AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000336967.3_Missense_Mutation_p.A295V|MYADM_ENST00000391770.4_Missense_Mutation_p.A295V	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	295	MARVEL 2. {ECO:0000255|PROSITE- ProRule:PRU00581}.				establishment of endothelial barrier (GO:0061028)|membrane raft organization (GO:0031579)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of gene expression (GO:0010629)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of protein kinase C signaling (GO:0090038)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell migration (GO:0030335)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein targeting to plasma membrane (GO:0072661)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|ruffle (GO:0001726)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		CGCCGACTGGCTGTGGCCATC	0.597																																						dbGAP											0													56.0	51.0	53.0					19																	54377667		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087882	CCDS12866.1	19q13.33-q13.4	2004-07-23			ENSG00000179820	ENSG00000179820			7544	protein-coding gene	gene with protein product		609959				10733104, 12075932	Standard	NM_001020818		Approved		uc002qcl.3	Q96S97	OTTHUMG00000060775	ENST00000391769.2:c.884C>T	19.37:g.54377667C>T	ENSP00000375649:p.Ala295Val		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	pfam_MARVEL-like_dom	p.A295V	ENST00000391769.2	37	c.884	CCDS12866.1	19	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367824	0.42003	.	.	ENSG00000179820	ENST00000336967;ENST00000391770;ENST00000391771;ENST00000415619;ENST00000391769;ENST00000391768	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	4.3	3.25	0.37280	Marvel (1);MARVEL-like domain (1);	0.137810	0.46758	D	0.000261	T	0.36082	0.0954	L	0.48174	1.505	0.46241	D	0.99894	P	0.46859	0.885	P	0.48770	0.589	T	0.04991	-1.0913	10	0.33141	T	0.24	.	9.5029	0.39028	0.0:0.8942:0.0:0.1058	.	295	Q96S97	MYADM_HUMAN	V	295;295;295;258;295;295	ENSP00000337222:A295V;ENSP00000375650:A295V;ENSP00000375651:A295V;ENSP00000375649:A295V;ENSP00000375648:A295V	ENSP00000337222:A295V	A	+	2	0	MYADM	59069479	0.947000	0.32204	0.833000	0.33012	0.253000	0.25986	2.038000	0.41184	2.133000	0.65898	0.305000	0.20034	GCT	MYADM	-	pfam_MARVEL-like_dom	ENSG00000179820		0.597	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYADM	HGNC	protein_coding	OTTHUMT00000134337.1	89	0.00	0	C	NM_138373		54377667	54377667	+1	no_errors	ENST00000336967	ensembl	human	known	69_37n	missense	109	12.10	15	SNP	0.955	T
MYH13	8735	genome.wustl.edu	37	17	10227360	10227360	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:10227360C>T	ENST00000418404.3	-	22	3076	c.2913G>A	c.(2911-2913)gaG>gaA	p.E971E	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.E971E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	971					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						TGGCATGCTTCTCCTTTTCAA	0.483																																						dbGAP											0													105.0	102.0	103.0					17																	10227360		2196	4299	6495	-	-	-	SO:0001819	synonymous_variant	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.2913G>A	17.37:g.10227360C>T			O95252|Q9P0U8	Silent	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.E971	ENST00000418404.3	37	c.2913	CCDS45613.1	17																																																																																			MYH13	-	NULL	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	127	0.00	0	C	NM_003802		10227360	10227360	-1	no_errors	ENST00000252172	ensembl	human	known	69_37n	silent	85	12.24	12	SNP	1.000	T
MYH1	4619	genome.wustl.edu	37	17	10409238	10409238	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:10409238C>T	ENST00000226207.5	-	19	2159	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	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	689	Myosin motor.				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						AGCTCATGCTCCATGGCACCT	0.478																																						dbGAP											0													119.0	101.0	107.0					17																	10409238		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.2065G>A	17.37:g.10409238C>T	ENSP00000226207:p.Glu689Lys		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.E689K	ENST00000226207.5	37	c.2065	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	23.8	4.457218	0.84317	.	.	ENSG00000109061	ENST00000226207	D	0.88046	-2.33	5.47	5.47	0.80525	Myosin head, motor domain (2);	0.000000	0.43416	U	0.000563	D	0.90861	0.7129	M	0.91459	3.21	0.80722	D	1	B	0.18166	0.026	B	0.18561	0.022	D	0.88722	0.3230	10	0.87932	D	0	.	19.6961	0.96026	0.0:1.0:0.0:0.0	.	689	P12882	MYH1_HUMAN	K	689	ENSP00000226207:E689K	ENSP00000226207:E689K	E	-	1	0	MYH1	10349963	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.609000	0.82925	2.745000	0.94114	0.650000	0.86243	GAG	MYH1	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000109061		0.478	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	145	0.00	0	C	NM_005963		10409238	10409238	-1	no_errors	ENST00000226207	ensembl	human	known	69_37n	missense	86	35.56	48	SNP	1.000	T
MYH15	22989	genome.wustl.edu	37	3	108156539	108156539	+	Missense_Mutation	SNP	C	C	T	rs367902528		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:108156539C>T	ENST00000273353.3	-	26	3199	c.3143G>A	c.(3142-3144)gGt>gAt	p.G1048D		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1048						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						CTCAAGGGCACCCTCAAGCTG	0.398																																						dbGAP											0													147.0	141.0	143.0					3																	108156539		1872	4114	5986	-	-	-	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.3143G>A	3.37:g.108156539C>T	ENSP00000273353:p.Gly1048Asp			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.G1048D	ENST00000273353.3	37	c.3143	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	C	15.21	2.767009	0.49574	.	.	ENSG00000144821	ENST00000273353	D	0.94758	-3.51	5.56	-0.703	0.11261	.	.	.	.	.	D	0.86997	0.6068	L	0.31207	0.915	0.36226	D	0.852314	B	0.18741	0.03	B	0.21151	0.033	T	0.73864	-0.3848	9	0.18710	T	0.47	.	5.5744	0.17215	0.2239:0.5511:0.0:0.225	.	1048	Q9Y2K3	MYH15_HUMAN	D	1048	ENSP00000273353:G1048D	ENSP00000273353:G1048D	G	-	2	0	MYH15	109639229	0.983000	0.35010	0.481000	0.27354	0.990000	0.78478	1.686000	0.37669	-0.351000	0.08249	0.655000	0.94253	GGT	MYH15	-	NULL	ENSG00000144821		0.398	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	291	0.00	0	C	XM_036988		108156539	108156539	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	missense	254	16.67	51	SNP	0.999	T
MYO5A	4644	genome.wustl.edu	37	15	52662437	52662437	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:52662437G>A	ENST00000399231.3	-	22	3238	c.2995C>T	c.(2995-2997)Ctg>Ttg	p.L999L	MYO5A_ENST00000356338.6_Silent_p.L999L|MYO5A_ENST00000553916.1_Silent_p.L999L|MYO5A_ENST00000399233.2_Silent_p.L999L|MYO5A_ENST00000358212.6_Silent_p.L999L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	999					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTTTGCTCCAGGTCTTTCCGG	0.453																																						dbGAP											0													181.0	164.0	169.0					15																	52662437		1896	4104	6000	-	-	-	SO:0001819	synonymous_variant	0				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2995C>T	15.37:g.52662437G>A			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,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.L999	ENST00000399231.3	37	c.2995	CCDS42037.1	15																																																																																			MYO5A	-	NULL	ENSG00000197535		0.453	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	151	0.00	0	G	NM_000259		52662437	52662437	-1	no_errors	ENST00000358212	ensembl	human	known	69_37n	silent	137	12.74	20	SNP	1.000	A
NAA10	8260	genome.wustl.edu	37	X	153197996	153197996	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:153197996G>A	ENST00000464845.1	-	4	539	c.221C>T	c.(220-222)tCa>tTa	p.S74L	NAA10_ENST00000370009.1_Missense_Mutation_p.S74L|NAA10_ENST00000370015.4_Missense_Mutation_p.S74L|NAA10_ENST00000393712.3_Missense_Mutation_p.S74L|NAA10_ENST00000393710.3_5'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	74	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				DNA packaging (GO:0006323)|internal protein amino acid acetylation (GO:0006475)|N-terminal protein amino acid acetylation (GO:0006474)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleolus (GO:0005730)|nucleus (GO:0005634)	N-acetyltransferase activity (GO:0008080)|peptide alpha-N-acetyltransferase activity (GO:0004596)			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						ACATACCAATGAGGTGATATG	0.587																																					Ovarian(94;1099 1433 38814 45882 51063)	dbGAP											0													73.0	52.0	59.0					X																	153197996		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC000308	CCDS14737.1, CCDS59179.1	Xq28	2010-05-07	2010-01-14	2010-01-14	ENSG00000102030	ENSG00000102030	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	18704	protein-coding gene	gene with protein product		300013	"""ARD1 homolog, N-acetyltransferase (S. cerevisiae)"", ""ARD1 homolog A, N-acetyltransferase (S. cerevisiae)"""	ARD1, ARD1A		7981673, 19660095	Standard	NM_003491		Approved	DXS707, TE2	uc004fjm.2	P41227	OTTHUMG00000024225	ENST00000464845.1:c.221C>T	X.37:g.153197996G>A	ENSP00000417763:p.Ser74Leu		A6NM98	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S74L	ENST00000464845.1	37	c.221	CCDS14737.1	X	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484638	0.63962	.	.	ENSG00000102030	ENST00000464845;ENST00000370015;ENST00000393712;ENST00000370009;ENST00000545734;ENST00000370011;ENST00000432089	T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7	4.51	4.51	0.55191	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.83852	2.665	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	T	0.62812	-0.6775	10	0.87932	D	0	-19.7404	15.155	0.72733	0.0:0.0:1.0:0.0	.	74;74;74	B7Z9N2;A6NM98;P41227	.;.;NAA10_HUMAN	L	74;74;74;74;74;68;68	ENSP00000417763:S74L;ENSP00000359032:S74L;ENSP00000377315:S74L;ENSP00000359026:S74L;ENSP00000359028:S68L;ENSP00000413668:S68L	ENSP00000359026:S74L	S	-	2	0	NAA10	152851190	1.000000	0.71417	0.616000	0.29078	0.148000	0.21650	7.299000	0.78831	2.080000	0.62538	0.525000	0.51046	TCA	NAA10	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000102030		0.587	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA10	HGNC	protein_coding	OTTHUMT00000061108.2	15	0.00	0	G	NM_003491		153197996	153197996	-1	no_errors	ENST00000464845	ensembl	human	known	69_37n	missense	12	70.73	29	SNP	0.998	A
NAAA	27163	genome.wustl.edu	37	4	76852392	76852392	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:76852392C>T	ENST00000286733.4	-	4	665	c.564G>A	c.(562-564)aaG>aaA	p.K188K	NAAA_ENST00000399497.3_Silent_p.K188K|NAAA_ENST00000507956.1_Silent_p.K188K|NAAA_ENST00000505594.1_Silent_p.K87K	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	188					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)	p.K188K(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAACTGTAAACTTGTGTGGGC	0.393																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											127.0	123.0	124.0					4																	76852392		1870	4111	5981	-	-	-	SO:0001819	synonymous_variant	0			M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.564G>A	4.37:g.76852392C>T			Q5KTF2|Q96EY2|Q9BRA8	Silent	SNP	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like	p.K188	ENST00000286733.4	37	c.564	CCDS43239.1	4																																																																																			NAAA	-	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like	ENSG00000138744		0.393	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAAA	HGNC	protein_coding	OTTHUMT00000362843.4	93	0.00	0	C			76852392	76852392	-1	no_errors	ENST00000286733	ensembl	human	known	69_37n	silent	67	12.99	10	SNP	1.000	T
NACAP1	83955	genome.wustl.edu	37	8	102381823	102381823	+	RNA	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:102381823G>A	ENST00000419462.1	+	0	1235					NR_002182.1		Q9BZK3	NACP1_HUMAN	nascent-polypeptide-associated complex alpha polypeptide pseudogene 1																		AGTAACTGCAGCTTGGTTTGA	0.313																																						dbGAP											0																																										-	-	-			0			AF315951		8q22.3	2007-04-20				ENSG00000228224			24688	pseudogene	pseudogene							Standard	NR_002182		Approved	FKSG17	uc003ykc.1	Q9BZK3			8.37:g.102381823G>A				RNA	SNP	-	NULL	ENST00000419462.1	37	NULL		8																																																																																			NACAP1	-	-	ENSG00000228224		0.313	NACAP1-001	KNOWN	basic	processed_transcript	NACAP1	HGNC	pseudogene	OTTHUMT00000380521.1	148	0.00	0	G	NR_002182		102381823	102381823	+1	no_errors	ENST00000419462	ensembl	human	known	69_37n	rna	103	14.17	17	SNP	0.999	A
NAPG	8774	genome.wustl.edu	37	18	10546341	10546341	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr18:10546341C>T	ENST00000322897.6	+	9	594	c.525C>T	c.(523-525)ctC>ctT	p.L175L	NAPG_ENST00000542979.1_Silent_p.L93L	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	175					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)				large_intestine(2)|lung(2)	4						AGGCGGCACTCTCTATTCAGA	0.313																																						dbGAP											0													72.0	61.0	64.0					18																	10546341		1800	4069	5869	-	-	-	SO:0001819	synonymous_variant	0			U78107	CCDS45827.1	18p11.21	2013-02-28			ENSG00000134265	ENSG00000134265			7642	protein-coding gene	gene with protein product	"""gamma SNAP"""	603216				9269766	Standard	NM_003826		Approved		uc002kon.3	Q99747	OTTHUMG00000179119	ENST00000322897.6:c.525C>T	18.37:g.10546341C>T			B4DFC9|Q9BUV1	Silent	SNP	NULL	p.L175	ENST00000322897.6	37	c.525	CCDS45827.1	18																																																																																			NAPG	-	NULL	ENSG00000134265		0.313	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPG	HGNC	protein_coding	OTTHUMT00000444873.1	57	0.00	0	C	NM_003826		10546341	10546341	+1	no_errors	ENST00000322897	ensembl	human	known	69_37n	silent	28	17.65	6	SNP	0.029	T
NAT1	9	genome.wustl.edu	37	8	18080025	18080025	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:18080025G>A	ENST00000517492.1	+	3	1107	c.469G>A	c.(469-471)Gga>Aga	p.G157R	NAT1_ENST00000520546.1_Missense_Mutation_p.G157R|NAT1_ENST00000539092.1_Missense_Mutation_p.G157R|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000541942.1_Missense_Mutation_p.G157R|NAT1_ENST00000535084.1_Missense_Mutation_p.G157R|NAT1_ENST00000545197.1_Missense_Mutation_p.G219R|NAT1_ENST00000307719.4_Missense_Mutation_p.G157R|NAT1_ENST00000518029.1_Missense_Mutation_p.G157R			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	161					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GGAAGAGAATGGATTCTGGTA	0.438																																						dbGAP											0													91.0	91.0	91.0					8																	18080025		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.469G>A	8.37:g.18080025G>A	ENSP00000429407:p.Gly157Arg		C9JWA6|Q86SY5	Missense_Mutation	SNP	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase	p.G219R	ENST00000517492.1	37	c.655	CCDS6007.1	8	.	.	.	.	.	.	.	.	.	.	.	14.09	2.430459	0.43122	.	.	ENSG00000171428	ENST00000535084;ENST00000307719;ENST00000545197;ENST00000539092;ENST00000541942;ENST00000518029;ENST00000517492;ENST00000520546	T;T;T;T;T;T;T;T	0.02085	4.46;4.46;4.46;4.46;4.46;4.46;4.46;4.46	4.35	4.35	0.52113	.	0.458728	0.22912	N	0.054139	T	0.08313	0.0207	M	0.68317	2.08	0.09310	N	1	D;D	0.60575	0.988;0.964	P;P	0.58130	0.833;0.703	T	0.02991	-1.1085	10	0.66056	D	0.02	.	12.7305	0.57195	0.0:0.0:1.0:0.0	.	219;157	F5H5R8;P18440	.;ARY1_HUMAN	R	157;157;219;157;157;157;157;157	ENSP00000444609:G157R;ENSP00000307218:G157R;ENSP00000443194:G219R;ENSP00000440434:G157R;ENSP00000440900:G157R;ENSP00000428270:G157R;ENSP00000429407:G157R;ENSP00000429341:G157R	ENSP00000307218:G157R	G	+	1	0	NAT1	18124305	0.317000	0.24589	0.003000	0.11579	0.411000	0.31082	2.900000	0.48687	2.132000	0.65825	0.460000	0.39030	GGA	NAT1	-	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase	ENSG00000171428		0.438	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NAT1	HGNC	protein_coding	OTTHUMT00000374828.1	283	0.00	0	G	NM_000662		18080025	18080025	+1	no_errors	ENST00000545197	ensembl	human	known	69_37n	missense	194	32.53	94	SNP	0.010	A
NAV1	89796	genome.wustl.edu	37	1	201758893	201758893	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:201758893C>T	ENST00000367296.4	+	11	3612	c.3192C>T	c.(3190-3192)gcC>gcT	p.A1064A	NAV1_ENST00000367295.1_Silent_p.A673A|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367302.1_Silent_p.A1020A|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Silent_p.A1007A|NAV1_ENST00000367297.4_Silent_p.A1064A|NAV1_ENST00000295624.6_Silent_p.A1064A	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1064					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						TGTCCCTGGCCTCCAGTGCCT	0.537																																						dbGAP											0													219.0	185.0	196.0					1																	201758893		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.3192C>T	1.37:g.201758893C>T			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	NULL	p.L622F	ENST00000367296.4	37	c.1864	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.21|11.21	1.571680|1.571680	0.28003|0.28003	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000438083	.|.	.|.	.|.	5.4|5.4	0.74|0.74	0.18330|0.18330	.|.	.|.	.|.	.|.	.|.	T|T	0.42108|0.42108	0.1188|0.1188	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.23547|0.23547	-1.0185|-1.0185	4|4	.|.	.|.	.|.	-34.9216|-34.9216	1.556|1.556	0.02585|0.02585	0.1381:0.3507:0.2729:0.2383|0.1381:0.3507:0.2729:0.2383	.|.	.|.	.|.	.|.	F|L	622|55	.|.	.|.	L|P	+|+	1|2	0|0	NAV1|NAV1	200025516|200025516	0.379000|0.379000	0.25123|0.25123	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	-0.366000|-0.366000	0.07563|0.07563	0.241000|0.241000	0.21283|0.21283	0.563000|0.563000	0.77884|0.77884	CTC|CCT	NAV1	-	NULL	ENSG00000134369		0.537	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	139	0.00	0	C	NM_020443		201758893	201758893	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000430015	ensembl	human	novel	69_37n	missense	56	11.11	7	SNP	0.947	T
NBEA	26960	genome.wustl.edu	37	13	36046644	36046644	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:36046644G>A	ENST00000400445.3	+	41	7090	c.6556G>A	c.(6556-6558)Gat>Aat	p.D2186N	NBEA_ENST00000310336.4_Missense_Mutation_p.D2186N|NBEA_ENST00000540320.1_Missense_Mutation_p.D2186N|NBEA_ENST00000379939.2_Missense_Mutation_p.D2183N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2186					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGATGAGGATGATTCTGCCTT	0.498																																						dbGAP											0													90.0	90.0	90.0					13																	36046644		1995	4176	6171	-	-	-	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6556G>A	13.37:g.36046644G>A	ENSP00000383295:p.Asp2186Asn		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.D2186N	ENST00000400445.3	37	c.6556	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756673	0.89843	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.51	5.51	0.81932	PH-BEACH domain (1);	0.050210	0.85682	D	0.000000	T	0.45498	0.1345	L	0.46670	1.46	0.80722	D	1	B;B	0.22604	0.037;0.072	B;B	0.18561	0.008;0.022	T	0.28490	-1.0042	10	0.38643	T	0.18	.	19.4328	0.94778	0.0:0.0:1.0:0.0	.	2186;2183	Q8NFP9;Q5T321	NBEA_HUMAN;.	N	2186;2186;2183;2186;813	ENSP00000440951:D2186N;ENSP00000383295:D2186N;ENSP00000369271:D2183N;ENSP00000308534:D2186N	ENSP00000308534:D2186N	D	+	1	0	NBEA	34944644	1.000000	0.71417	0.939000	0.37840	0.692000	0.40212	9.869000	0.99810	2.584000	0.87258	0.563000	0.77884	GAT	NBEA	-	NULL	ENSG00000172915		0.498	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		50	0.00	0	G	NM_015678		36046644	36046644	+1	no_errors	ENST00000310336	ensembl	human	known	69_37n	missense	42	17.65	9	SNP	1.000	A
NCAPG2	54892	genome.wustl.edu	37	7	158449384	158449385	+	Missense_Mutation	DNP	AA	AA	CC			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:158449384_158449385AA>CC	ENST00000409423.1	-	19	2245_2246	c.2073_2074TT>GG	c.(2071-2076)atTTcc>atGGcc	p.691_692IS>MA	NCAPG2_ENST00000275830.10_Missense_Mutation_p.483_484IS>MA|NCAPG2_ENST00000356309.3_Missense_Mutation_p.691_692IS>MA|NCAPG2_ENST00000541468.1_Missense_Mutation_p.192_193IS>MA|NCAPG2_ENST00000409339.3_Missense_Mutation_p.691_692IS>MA|NCAPG2_ENST00000449727.2_Missense_Mutation_p.691_692IS>MA	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	691					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		CTCAGCGTGGAAATCACACCAC	0.52																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2073_2074delinsCC	7.37:g.158449384_158449385delinsCC	ENSP00000386569:p.I691_S692delinsMA		A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Missense_Mutation	SNP	pfam_Condensin2_G2,superfamily_ARM-type_fold	p.S692A|p.I691M	ENST00000409423.1	37	c.2074|c.2073	CCDS43686.1	7																																																																																			NCAPG2	-	pfam_Condensin2_G2	ENSG00000146918		0.520	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NCAPG2	HGNC	protein_coding	OTTHUMT00000327111.1	51	0.00	0	A	NM_017760		158449384|158449385	158449384|158449385	-1	no_errors	ENST00000409339	ensembl	human	known	69_37n	missense	31|33	40.38|36.54	21|19	SNP	1.000|0.993	C
NCOA6	23054	genome.wustl.edu	37	20	33328676	33328676	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:33328676G>A	ENST00000374796.2	-	12	7954	c.5384C>T	c.(5383-5385)cCc>cTc	p.P1795L	NCOA6_ENST00000359003.2_Missense_Mutation_p.P1795L			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1795	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGTCAAAAGGGGAGAAACCAT	0.483																																						dbGAP											0													82.0	80.0	81.0					20																	33328676		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5384C>T	20.37:g.33328676G>A	ENSP00000363929:p.Pro1795Leu		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	NULL	p.P1795L	ENST00000374796.2	37	c.5384	CCDS13241.1	20	.	.	.	.	.	.	.	.	.	.	G	16.58	3.164236	0.57476	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.30981	1.51;1.51	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000001	T	0.32436	0.0829	L	0.27053	0.805	0.80722	D	1	P	0.50272	0.933	P	0.46479	0.518	T	0.04961	-1.0915	10	0.72032	D	0.01	-6.7233	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1795	Q14686	NCOA6_HUMAN	L	1795	ENSP00000363929:P1795L;ENSP00000351894:P1795L	ENSP00000351894:P1795L	P	-	2	0	NCOA6	32792337	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.603000	0.82811	2.941000	0.99782	0.655000	0.94253	CCC	NCOA6	-	NULL	ENSG00000198646		0.483	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA6	HGNC	protein_coding	OTTHUMT00000078811.2	80	0.00	0	G	NM_014071		33328676	33328676	-1	no_errors	ENST00000359003	ensembl	human	known	69_37n	missense	66	14.29	11	SNP	1.000	A
NCOA5	57727	genome.wustl.edu	37	20	44691320	44691320	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:44691320G>A	ENST00000290231.6	-	8	1523	c.1359C>T	c.(1357-1359)ccC>ccT	p.P453P		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	453					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CAGCAACCGAGGGGGATGCAG	0.552																																						dbGAP											0													116.0	120.0	119.0					20																	44691320		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.1359C>T	20.37:g.44691320G>A			B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Silent	SNP	superfamily_Anticodon-bd	p.P453	ENST00000290231.6	37	c.1359	CCDS13392.1	20																																																																																			NCOA5	-	NULL	ENSG00000124160		0.552	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA5	HGNC	protein_coding	OTTHUMT00000079559.1	172	0.00	0	G	NM_020967		44691320	44691320	-1	no_errors	ENST00000290231	ensembl	human	known	69_37n	silent	197	10.45	23	SNP	0.969	A
NDRG1	10397	genome.wustl.edu	37	8	134256607	134256607	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:134256607C>T	ENST00000414097.2	-	14	1749	c.882G>A	c.(880-882)caG>caA	p.Q294Q	NDRG1_ENST00000537882.1_Silent_p.Q213Q|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000518176.1_Silent_p.Q41Q|NDRG1_ENST00000323851.7_Silent_p.Q294Q|NDRG1_ENST00000354944.5_Silent_p.Q224Q|NDRG1_ENST00000522476.1_Silent_p.Q228Q|NDRG1_ENST00000521414.1_5'UTR	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	294					cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|mast cell activation (GO:0045576)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of spindle checkpoint (GO:0090232)|response to metal ion (GO:0010038)	cell-cell adherens junction (GO:0005913)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	cadherin binding (GO:0045296)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|Rab GTPase binding (GO:0017137)		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|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)			CCTGGGAGATCTGCGGGAGGC	0.557			T	ERG	prostate																																	dbGAP		Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	0													87.0	80.0	83.0					8																	134256607		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X92845	CCDS34945.1, CCDS59112.1, CCDS59113.1	8q24	2014-09-17	2008-09-12		ENSG00000104419	ENSG00000104419			7679	protein-coding gene	gene with protein product		605262		CAP43		9251681, 8939898, 18455888	Standard	NM_006096		Approved	DRG1, RTP, TDD5, NDR1	uc003yue.2	Q92597	OTTHUMG00000164441	ENST00000414097.2:c.882G>A	8.37:g.134256607C>T			B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Silent	SNP	pfam_Ndr	p.Q294	ENST00000414097.2	37	c.882	CCDS34945.1	8																																																																																			NDRG1	-	pfam_Ndr	ENSG00000104419		0.557	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDRG1	HGNC	protein_coding	OTTHUMT00000378805.1	48	0.00	0	C			134256607	134256607	-1	no_errors	ENST00000323851	ensembl	human	known	69_37n	silent	30	55.88	38	SNP	1.000	T
NDRG2	57447	genome.wustl.edu	37	14	21485901	21485901	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:21485901G>A	ENST00000556147.1	-	16	1910	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	NDRG2_ENST00000397847.2_Missense_Mutation_p.R313C|NDRG2_ENST00000397851.2_Missense_Mutation_p.R324C|NDRG2_ENST00000350792.3_Missense_Mutation_p.R310C|NDRG2_ENST00000397855.3_Missense_Mutation_p.R281C|NDRG2_ENST00000298687.5_Missense_Mutation_p.R324C|NDRG2_ENST00000360463.3_Missense_Mutation_p.R310C|NDRG2_ENST00000555158.1_Missense_Mutation_p.R310C|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000403829.3_Missense_Mutation_p.R320C|NDRG2_ENST00000397853.3_Missense_Mutation_p.R324C|NDRG2_ENST00000397844.2_Missense_Mutation_p.R294C|NDRG2_ENST00000298684.5_Missense_Mutation_p.R281C|NDRG2_ENST00000553503.1_Missense_Mutation_p.R310C|NDRG2_ENST00000397858.1_Missense_Mutation_p.R324C|NDRG2_ENST00000554143.1_Missense_Mutation_p.R310C|NDRG2_ENST00000397856.3_Missense_Mutation_p.R294C|NDRG2_ENST00000554104.1_Missense_Mutation_p.R237C			Q9UN36	NDRG2_HUMAN	NDRG family member 2	324					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGGGACAGGCGAGTCATGCAG	0.622																																						dbGAP											0													33.0	28.0	30.0					14																	21485901		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.970C>T	14.37:g.21485901G>A	ENSP00000451712:p.Arg324Cys		B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Missense_Mutation	SNP	pfam_Ndr	p.R324C	ENST00000556147.1	37	c.970	CCDS9565.1	14	.	.	.	.	.	.	.	.	.	.	G	22.8	4.331716	0.81690	.	.	ENSG00000165795	ENST00000298687;ENST00000350792;ENST00000554770;ENST00000397858;ENST00000554104;ENST00000555158;ENST00000553503;ENST00000397853;ENST00000360463;ENST00000556612;ENST00000556147;ENST00000554143;ENST00000397851;ENST00000397847;ENST00000397856;ENST00000397855;ENST00000298684;ENST00000397844;ENST00000403829	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53640	1.92;1.89;1.92;0.61;1.89;1.89;1.92;1.89;1.92;1.89;1.92;1.96;1.88;1.9;1.9;1.88;1.88	5.71	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.70544	0.3236	M	0.84948	2.725	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	0.993;0.999;0.998;0.997;0.997;0.998	T	0.75752	-0.3207	10	0.87932	D	0	-10.7902	12.4654	0.55755	0.0809:0.0:0.9191:0.0	.	320;313;294;305;324;281	B4DE86;Q9UN36-3;Q9UN36-5;G3V3N4;Q9UN36;Q9UN36-4	.;.;.;.;NDRG2_HUMAN;.	C	324;310;305;324;237;310;310;324;310;58;324;310;324;313;294;281;281;294;320	ENSP00000298687:R324C;ENSP00000344620:R310C;ENSP00000380956:R324C;ENSP00000452216:R237C;ENSP00000452038:R310C;ENSP00000452306:R310C;ENSP00000380951:R324C;ENSP00000353649:R310C;ENSP00000451712:R324C;ENSP00000452006:R310C;ENSP00000380949:R324C;ENSP00000380945:R313C;ENSP00000380954:R294C;ENSP00000380953:R281C;ENSP00000298684:R281C;ENSP00000380943:R294C;ENSP00000385889:R320C	ENSP00000298684:R281C	R	-	1	0	NDRG2	20555741	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.125000	0.94402	1.438000	0.47492	-0.251000	0.11542	CGC	NDRG2	-	NULL	ENSG00000165795		0.622	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NDRG2	HGNC	protein_coding	OTTHUMT00000411717.1	27	0.00	0	G			21485901	21485901	-1	no_errors	ENST00000298687	ensembl	human	known	69_37n	missense	38	11.63	5	SNP	1.000	A
NEB	4703	genome.wustl.edu	37	2	152466467	152466467	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:152466467C>T	ENST00000172853.10	-	77	11604	c.11457G>A	c.(11455-11457)gtG>gtA	p.V3819V	NEB_ENST00000604864.1_Silent_p.V4062V|NEB_ENST00000603639.1_Silent_p.V4062V|NEB_ENST00000397345.3_Silent_p.V4062V|NEB_ENST00000409198.1_Silent_p.V3819V|NEB_ENST00000427231.2_Silent_p.V4062V			P20929	NEBU_HUMAN	nebulin	3819					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)		TTAACATGTCCACTGGGCTAG	0.418																																						dbGAP											0													198.0	189.0	192.0					2																	152466467		1969	4146	6115	-	-	-	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.11457G>A	2.37:g.152466467C>T			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.V4062	ENST00000172853.10	37	c.12186		2																																																																																			NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.418	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		188	0.00	0	C	NM_004543		152466467	152466467	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	silent	140	17.65	30	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152483696	152483696	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:152483696C>T	ENST00000172853.10	-	66	9585	c.9438G>A	c.(9436-9438)caG>caA	p.Q3146Q	NEB_ENST00000604864.1_Silent_p.Q3389Q|NEB_ENST00000603639.1_Silent_p.Q3389Q|NEB_ENST00000397345.3_Silent_p.Q3389Q|NEB_ENST00000409198.1_Silent_p.Q3146Q|NEB_ENST00000427231.2_Silent_p.Q3389Q			P20929	NEBU_HUMAN	nebulin	3146					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)		CTCTCAGCCACTGGAGATCAG	0.408																																						dbGAP											0													77.0	79.0	78.0					2																	152483696		1938	4116	6054	-	-	-	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.9438G>A	2.37:g.152483696C>T			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.Q3389	ENST00000172853.10	37	c.10167		2																																																																																			NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.408	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		204	0.00	0	C	NM_004543		152483696	152483696	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	silent	140	15.15	25	SNP	0.999	T
NECAB1	64168	genome.wustl.edu	37	8	91893308	91893308	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:91893308C>T	ENST00000417640.2	+	5	644	c.307C>T	c.(307-309)Ctt>Ttt	p.L103F	NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	103						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			ACTAGCAGCACTTGAAGACCT	0.299																																						dbGAP											0													43.0	39.0	40.0					8																	91893308		1814	4076	5890	-	-	-	SO:0001583	missense	0			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.307C>T	8.37:g.91893308C>T	ENSP00000387380:p.Leu103Phe		Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L103F	ENST00000417640.2	37	c.307	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709455	0.68730	.	.	ENSG00000123119	ENST00000417640	T	0.25912	1.77	5.0	4.11	0.48088	.	0.000000	0.64402	D	0.000001	T	0.48857	0.1523	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.53121	-0.8483	10	0.87932	D	0	-17.0872	8.8248	0.35047	0.0:0.834:0.0:0.166	.	103	Q8N987	NECA1_HUMAN	F	103	ENSP00000387380:L103F	ENSP00000387380:L103F	L	+	1	0	NECAB1	91962484	0.967000	0.33354	1.000000	0.80357	0.997000	0.91878	1.487000	0.35540	2.289000	0.77006	0.650000	0.86243	CTT	NECAB1	-	NULL	ENSG00000123119		0.299	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	43	0.00	0	C	NM_022351		91893308	91893308	+1	no_errors	ENST00000417640	ensembl	human	known	69_37n	missense	27	42.55	20	SNP	1.000	T
NEDD9	4739	genome.wustl.edu	37	6	11190371	11190371	+	Silent	SNP	C	C	T	rs565770462		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:11190371C>T	ENST00000379446.5	-	5	1897	c.1731G>A	c.(1729-1731)acG>acA	p.T577T	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.T577T	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	577			T -> M (in dbSNP:rs3734401).		actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTGGGTACTCCGTTGAGTTCA	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		20262	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													72.0	70.0	71.0					6																	11190371		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.1731G>A	6.37:g.11190371C>T			A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.T577	ENST00000379446.5	37	c.1731	CCDS4520.1	6																																																																																			NEDD9	-	NULL	ENSG00000111859		0.617	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	66	0.00	0	C	NM_006403		11190371	11190371	-1	no_errors	ENST00000379446	ensembl	human	known	69_37n	silent	169	18.27	38	SNP	0.000	T
NEK1	4750	genome.wustl.edu	37	4	170476894	170476894	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:170476894C>T	ENST00000439128.2	-	17	2179	c.1539G>A	c.(1537-1539)gtG>gtA	p.V513V	NEK1_ENST00000507142.1_Silent_p.V513V|NEK1_ENST00000511633.1_Intron|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	513					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTTGTTTAGACACCGCCTTCA	0.413																																						dbGAP											0													77.0	77.0	77.0					4																	170476894		1887	4123	6010	-	-	-	SO:0001819	synonymous_variant	0			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.1539G>A	4.37:g.170476894C>T			G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V513	ENST00000439128.2	37	c.1539	CCDS47162.1	4																																																																																			NEK1	-	NULL	ENSG00000137601		0.413	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3	202	0.00	0	C			170476894	170476894	-1	no_errors	ENST00000507142	ensembl	human	known	69_37n	silent	207	14.05	34	SNP	0.997	T
NEK2	4751	genome.wustl.edu	37	1	211846917	211846917	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:211846917C>T	ENST00000366999.4	-	3	601	c.463G>A	c.(463-465)Gtc>Atc	p.V155I	NEK2_ENST00000462283.1_5'Flank|RP11-122M14.1_ENST00000415202.1_RNA|NEK2_ENST00000366998.3_Missense_Mutation_p.V155I|NEK2_ENST00000540251.1_Missense_Mutation_p.V112I	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	155	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		CCAAGCTTGACGTTTTGCTTG	0.443																																						dbGAP											0													108.0	104.0	105.0					1																	211846917		2203	4300	6503	-	-	-	SO:0001583	missense	0			U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.463G>A	1.37:g.211846917C>T	ENSP00000355966:p.Val155Ile		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	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.V155I	ENST00000366999.4	37	c.463	CCDS1500.1	1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.044559	0.93685	.	.	ENSG00000117650	ENST00000366999;ENST00000540251;ENST00000366998	T;T;T	0.41758	1.74;0.99;1.74	5.23	5.23	0.72850	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	0.42471	0.1204	N	0.16166	0.38	0.80722	D	1	P;P;P	0.52577	0.899;0.954;0.899	P;P;P	0.55999	0.684;0.789;0.684	T	0.21381	-1.0247	10	0.21540	T	0.41	.	19.1585	0.93522	0.0:1.0:0.0:0.0	.	155;155;155	P51955-2;P51955;P51955-4	.;NEK2_HUMAN;.	I	155;112;155	ENSP00000355966:V155I;ENSP00000440237:V112I;ENSP00000355965:V155I	ENSP00000355965:V155I	V	-	1	0	NEK2	209913540	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	5.677000	0.68142	2.591000	0.87537	0.563000	0.77884	GTC	NEK2	-	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	ENSG00000117650		0.443	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NEK2	HGNC	protein_coding	OTTHUMT00000090154.1	171	0.00	0	C	NM_002497		211846917	211846917	-1	no_errors	ENST00000366999	ensembl	human	known	69_37n	missense	142	11.80	19	SNP	1.000	T
NEK8	284086	genome.wustl.edu	37	17	27068533	27068533	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:27068533C>T	ENST00000268766.6	+	14	2028	c.1994C>T	c.(1993-1995)cCt>cTt	p.P665L	TRAF4_ENST00000262395.5_5'Flank|TRAF4_ENST00000262396.6_5'Flank|AC010761.6_ENST00000582536.1_RNA|AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000444415.3_5'Flank	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	665					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GAGACACACCCTTACACGGTG	0.577																																					NSCLC(6;19 293 14866 25253 49845)	dbGAP											0													168.0	126.0	140.0					17																	27068533		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1994C>T	17.37:g.27068533C>T	ENSP00000268766:p.Pro665Leu		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P665L	ENST00000268766.6	37	c.1994	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.393693	0.83011	.	.	ENSG00000160602	ENST00000268766	T	0.80909	-1.43	5.83	5.83	0.93111	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.113945	0.64402	D	0.000010	T	0.79446	0.4447	L	0.56769	1.78	0.80722	D	1	P	0.43231	0.801	B	0.38106	0.265	T	0.82168	-0.0591	10	0.72032	D	0.01	.	19.1034	0.93283	0.0:1.0:0.0:0.0	.	665	Q86SG6	NEK8_HUMAN	L	665	ENSP00000268766:P665L	ENSP00000268766:P665L	P	+	2	0	NEK8	24092660	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.802000	0.85969	2.750000	0.94351	0.655000	0.94253	CCT	NEK8	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000160602		0.577	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	42	0.00	0	C			27068533	27068533	+1	no_errors	ENST00000268766	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	1.000	T
NELL1	4745	genome.wustl.edu	37	11	21135145	21135145	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:21135145G>A	ENST00000357134.5	+	13	1463	c.1311G>A	c.(1309-1311)gaG>gaA	p.E437E	NELL1_ENST00000532434.1_Silent_p.E437E|NELL1_ENST00000298925.5_Silent_p.E465E|NELL1_ENST00000325319.5_Silent_p.E380E	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	437	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						ATATTGATGAGTGTGCAGCTA	0.363																																						dbGAP											0													282.0	249.0	260.0					11																	21135145		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.1311G>A	11.37:g.21135145G>A			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.E437	ENST00000357134.5	37	c.1311	CCDS7855.1	11																																																																																			NELL1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000165973		0.363	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	286	0.00	0	G	NM_006157		21135145	21135145	+1	no_errors	ENST00000357134	ensembl	human	known	69_37n	silent	256	13.22	39	SNP	1.000	A
NETO2	81831	genome.wustl.edu	37	16	47163219	47163219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:47163219G>A	ENST00000562435.1	-	3	532	c.148C>T	c.(148-150)Cga>Tga	p.R50*	NETO2_ENST00000303155.5_Nonsense_Mutation_p.R50*	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	50	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TTGCTGGTTCGAACCCAAATG	0.398										HNSCC(25;0.065)																												dbGAP											0													161.0	153.0	156.0					16																	47163219		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.148C>T	16.37:g.47163219G>A	ENSP00000455169:p.Arg50*		J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Nonsense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.R50*	ENST00000562435.1	37	c.148	CCDS10727.1	16	.	.	.	.	.	.	.	.	.	.	G	42	9.384749	0.99155	.	.	ENSG00000171208	ENST00000303155	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	20.5666	0.99351	0.0:0.0:1.0:0.0	.	.	.	.	X	50	.	ENSP00000306726:R50X	R	-	1	2	NETO2	45720720	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.609000	0.61148	2.854000	0.98071	0.655000	0.94253	CGA	NETO2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000171208		0.398	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NETO2	HGNC	protein_coding	OTTHUMT00000256766.2	231	0.00	0	G	NM_018092		47163219	47163219	-1	no_errors	ENST00000562435	ensembl	human	known	69_37n	nonsense	137	30.81	61	SNP	1.000	A
NEU1	4758	genome.wustl.edu	37	6	31830526	31830526	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:31830526G>A	ENST00000375631.4	-	1	157	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	10					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	CTGTCCGGGAGCGCCGTGCTG	0.662																																						dbGAP											0													45.0	38.0	41.0					6																	31830526		1511	2709	4220	-	-	-	SO:0001583	missense	0			AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.28C>T	6.37:g.31830526G>A	ENSP00000364782:p.Leu10Phe			Missense_Mutation	SNP	superfamily_Neuraminidase	p.L10F	ENST00000375631.4	37	c.28	CCDS4723.1	6	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993078	0.35131	.	.	ENSG00000204386	ENST00000375631	D	0.89681	-2.55	4.11	-2.38	0.06622	.	1.201140	0.06284	N	0.698051	T	0.60327	0.2260	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.48340	-0.9044	10	0.54805	T	0.06	0.5992	0.3875	0.00405	0.2882:0.1456:0.3272:0.239	.	10;10	E9PIF4;Q99519	.;NEUR1_HUMAN	F	10	ENSP00000364782:L10F	ENSP00000364782:L10F	L	-	1	0	NEU1	31938505	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.152000	0.16302	-0.505000	0.06568	0.591000	0.81541	CTC	NEU1	-	NULL	ENSG00000204386		0.662	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEU1	HGNC	protein_coding	OTTHUMT00000076616.2	22	0.00	0	G			31830526	31830526	-1	no_errors	ENST00000375631	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	0.000	A
NFASC	23114	genome.wustl.edu	37	1	204943796	204943796	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:204943796G>A	ENST00000401399.1	+	13	1602	c.1403G>A	c.(1402-1404)gGg>gAg	p.G468E	NFASC_ENST00000338515.6_Missense_Mutation_p.G468E|NFASC_ENST00000367169.4_Missense_Mutation_p.G468E|NFASC_ENST00000360049.4_Missense_Mutation_p.G479E|NFASC_ENST00000367172.4_Missense_Mutation_p.G468E|NFASC_ENST00000539706.1_Missense_Mutation_p.G479E|NFASC_ENST00000339876.6_Missense_Mutation_p.G468E|NFASC_ENST00000338586.6_Missense_Mutation_p.G468E|NFASC_ENST00000403080.1_Missense_Mutation_p.G468E|NFASC_ENST00000367170.4_Missense_Mutation_p.G468E|NFASC_ENST00000404076.1_Missense_Mutation_p.G462E|NFASC_ENST00000367171.4_Missense_Mutation_p.G468E|NFASC_ENST00000513543.1_Missense_Mutation_p.G479E|NFASC_ENST00000404907.1_Missense_Mutation_p.G479E			O94856	NFASC_HUMAN	neurofascin	468	Ig-like C2-type 5.				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)			TTTAAGAATGGGCAAGGAAGC	0.527																																						dbGAP											0													144.0	138.0	140.0					1																	204943796		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.1403G>A	1.37:g.204943796G>A	ENSP00000385637:p.Gly468Glu		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.G468E	ENST00000401399.1	37	c.1403	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.27|16.27	3.076467|3.076467	0.55753|0.55753	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393|ENST00000367173	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|T	0.40476|0.40476	1.03;1.17;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.17;1.17;1.03;1.03;1.03;1.03|1.03	5.84|5.84	5.84|5.84	0.93424|0.93424	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|0.000000	0.53938|0.53938	D|D	0.000051|0.000051	T|T	0.57504|0.57504	0.2058|0.2058	L|L	0.59912|0.59912	1.85|1.85	0.80722|0.80722	D|D	1|1	B;D;P;P;B;P;D|.	0.89917|.	0.302;0.99;0.584;0.584;0.405;0.584;1.0|.	B;D;B;B;B;B;D|.	0.97110|.	0.163;0.948;0.195;0.202;0.101;0.268;1.0|.	T|T	0.47100|0.47100	-0.9143|-0.9143	10|8	0.29301|0.34782	T|T	0.29|0.22	.|.	19.7315|19.7315	0.96183|0.96183	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	468;479;479;468;468;479;468|.	O94856;O94856-11;O94856-8;F8W791;O94856-9;O94856-3;O94856-2|.	NFASC_HUMAN;.;.;.;.;.;.|.	E|S	468;468;468;468;468;468;479;479;479;468;468;462;468;479;479;455|438	ENSP00000356140:G468E;ENSP00000356139:G468E;ENSP00000356138:G468E;ENSP00000342128:G468E;ENSP00000344786:G468E;ENSP00000343509:G468E;ENSP00000438614:G479E;ENSP00000353154:G479E;ENSP00000356137:G468E;ENSP00000384875:G468E;ENSP00000385676:G462E;ENSP00000385637:G468E;ENSP00000384061:G479E;ENSP00000425908:G479E;ENSP00000415031:G455E|ENSP00000356141:G438S	ENSP00000295776:G479E|ENSP00000356141:G438S	G|G	+|+	2|1	0|0	NFASC|NFASC	203210419|203210419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.876000|7.876000	0.87215|0.87215	2.768000|2.768000	0.95171|0.95171	0.491000|0.491000	0.48974|0.48974	GGG|GGC	NFASC	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000163531		0.527	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	130	0.00	0	G	NM_001005388		204943796	204943796	+1	no_errors	ENST00000367172	ensembl	human	known	69_37n	missense	157	18.97	37	SNP	1.000	A
NFE2L1	4779	genome.wustl.edu	37	17	46136064	46136064	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:46136064C>T	ENST00000362042.3	+	6	1996	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000583378.1_Silent_p.G261G|NFE2L1_ENST00000357480.5_Silent_p.G430G|NFE2L1_ENST00000536222.1_Silent_p.G304G|NFE2L1_ENST00000585291.1_Silent_p.G430G|NFE2L1_ENST00000361665.3_Silent_p.G449G|NFE2L1_ENST00000582155.1_Silent_p.G272G	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	460					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGAAGAAGGCTTTAACCCTG	0.537																																						dbGAP											0													98.0	97.0	97.0					17																	46136064		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1380C>T	17.37:g.46136064C>T			D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.G460	ENST00000362042.3	37	c.1380	CCDS11524.1	17																																																																																			NFE2L1	-	NULL	ENSG00000082641		0.537	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	233	0.00	0	C	NM_003204		46136064	46136064	+1	no_errors	ENST00000362042	ensembl	human	known	69_37n	silent	102	20.16	26	SNP	1.000	T
NFKB1	4790	genome.wustl.edu	37	4	103527727	103527727	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:103527727G>A	ENST00000505458.1	+	17	2101	c.1824G>A	c.(1822-1824)ctG>ctA	p.L608L	NFKB1_ENST00000226574.4_Silent_p.L609L|NFKB1_ENST00000394820.4_Silent_p.L608L|NFKB1_ENST00000600343.1_Silent_p.L428L			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	608	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|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)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GGGCCGACCTGAGCCTTCTGG	0.512																																						dbGAP											0													195.0	184.0	188.0					4																	103527727		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1824G>A	4.37:g.103527727G>A			A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,prints_NF_Rel_dor,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD	p.L609	ENST00000505458.1	37	c.1827	CCDS54783.1	4																																																																																			NFKB1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000109320		0.512	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	200	0.00	0	G			103527727	103527727	+1	no_errors	ENST00000226574	ensembl	human	known	69_37n	silent	185	33.93	95	SNP	0.998	A
NHP2L1	4809	genome.wustl.edu	37	22	42070995	42070995	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:42070995G>A	ENST00000401959.1	-	4	645	c.329C>T	c.(328-330)tCg>tTg	p.S110L	NHP2L1_ENST00000215956.5_Missense_Mutation_p.S110L|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.S110L|NHP2L1_ENST00000402458.1_Missense_Mutation_p.S114L	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	110					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TTTCAGCTGCGAGCCTTCTTT	0.572																																						dbGAP											0													84.0	79.0	80.0					22																	42070995		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.329C>T	22.37:g.42070995G>A	ENSP00000383949:p.Ser110Leu			Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3,prints_H/ACA_rnp_Nhp2_euk,prints_Ribosomal_L7Ae/L8/Nhp2,prints_Ribosomal_L7Ae_prok	p.S110L	ENST00000401959.1	37	c.329	CCDS14022.1	22	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994874	0.74703	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.34	5.34	0.76211	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	D	0.83055	0.5171	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87098	0.2177	10	0.72032	D	0.01	.	19.4053	0.94646	0.0:0.0:1.0:0.0	.	110	P55769	NH2L1_HUMAN	L	110;110;110;114	ENSP00000347401:S110L;ENSP00000215956:S110L;ENSP00000383949:S110L;ENSP00000383989:S114L	ENSP00000215956:S110L	S	-	2	0	NHP2L1	40400941	1.000000	0.71417	0.995000	0.50966	0.302000	0.27658	9.312000	0.96287	2.666000	0.90696	0.591000	0.81541	TCG	NHP2L1	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,pfam_RNase_P_Pop3	ENSG00000100138		0.572	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NHP2L1	HGNC	protein_coding	OTTHUMT00000321682.1	107	0.00	0	G	NM_001003796		42070995	42070995	-1	no_errors	ENST00000215956	ensembl	human	known	69_37n	missense	232	25.64	80	SNP	1.000	A
NKIRAS2	28511	genome.wustl.edu	37	17	40173636	40173636	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:40173636C>T	ENST00000307641.5	+	2	662	c.41C>T	c.(40-42)tCt>tTt	p.S14F	NKIRAS2_ENST00000393880.1_Missense_Mutation_p.S14F|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.S14F|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.S14F|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.S14F|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.S14F|NKIRAS2_ENST00000462043.2_Missense_Mutation_p.S14F|NKIRAS2_ENST00000479407.1_Missense_Mutation_p.S14F|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.S14F	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	14	Small GTPase-like.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				GGCCAGGCGTCTGTGGGCAAA	0.498																																						dbGAP											0													204.0	180.0	188.0					17																	40173636		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229840	CCDS11415.1, CCDS45679.1, CCDS45680.1	17q21.31	2014-05-09	2004-05-20		ENSG00000168256	ENSG00000168256			17898	protein-coding gene	gene with protein product		604497	"""NFKB inhibitor interacting Ras-like protein 2"""			10657303	Standard	NM_001001349		Approved	KBRAS2, DKFZP434N1526, kappaB-Ras2	uc002hys.3	Q9NYR9	OTTHUMG00000133503	ENST00000307641.5:c.41C>T	17.37:g.40173636C>T	ENSP00000303580:p.Ser14Phe		A6NCZ5|B3KNN0|B4DNM3|Q6PK52|Q96KC7|Q9NSX1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S14F	ENST00000307641.5	37	c.41	CCDS11415.1	17	.	.	.	.	.	.	.	.	.	.	C	17.54	3.415487	0.62511	.	.	ENSG00000168256	ENST00000307641;ENST00000393884;ENST00000449471;ENST00000393880;ENST00000393881;ENST00000393885;ENST00000462043;ENST00000316082	T;T;T;T;T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-0.29;-1.38	5.67	5.67	0.87782	Small GTP-binding protein domain (1);	0.221552	0.45126	D	0.000399	D	0.86748	0.6007	L	0.49350	1.555	0.46458	D	0.999059	B;D;B	0.76494	0.145;0.999;0.001	B;D;B	0.73708	0.085;0.981;0.012	D	0.87231	0.2260	10	0.87932	D	0	-8.7597	15.6065	0.76676	0.0:0.8631:0.1369:0.0	.	14;14;14	B4DNM3;E9PAZ8;Q9NYR9	.;.;KBRS2_HUMAN	F	14	ENSP00000303580:S14F;ENSP00000377462:S14F;ENSP00000401976:S14F;ENSP00000377458:S14F;ENSP00000377459:S14F;ENSP00000377463:S14F;ENSP00000419929:S14F;ENSP00000312773:S14F	ENSP00000303580:S14F	S	+	2	0	NKIRAS2	37427162	0.992000	0.36948	0.997000	0.53966	0.988000	0.76386	3.873000	0.56093	2.836000	0.97738	0.655000	0.94253	TCT	NKIRAS2	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000168256		0.498	NKIRAS2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NKIRAS2	HGNC	protein_coding	OTTHUMT00000257457.1	100	0.00	0	C	NM_017595		40173636	40173636	+1	no_errors	ENST00000307641	ensembl	human	known	69_37n	missense	90	20.35	23	SNP	0.774	T
NKX2-2	4821	genome.wustl.edu	37	20	21492891	21492891	+	Silent	SNP	G	G	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:21492891G>C	ENST00000377142.4	-	2	848	c.492C>G	c.(490-492)ctC>ctG	p.L164L	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	164					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGAGGCGGATGAGGCTGGCCA	0.657																																						dbGAP											0													39.0	40.0	40.0					20																	21492891		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.492C>G	20.37:g.21492891G>C				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.L164	ENST00000377142.4	37	c.492	CCDS13145.1	20																																																																																			NKX2-2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000125820		0.657	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	25	0.00	0	G			21492891	21492891	-1	no_errors	ENST00000377142	ensembl	human	known	69_37n	silent	14	41.67	15	SNP	0.998	C
NLRC5	84166	genome.wustl.edu	37	16	57112966	57112966	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:57112966C>T	ENST00000262510.6	+	44	5311	c.5086C>T	c.(5086-5088)Cca>Tca	p.P1696S	NLRC5_ENST00000308149.7_Missense_Mutation_p.P1667S|NLRC5_ENST00000539144.1_Missense_Mutation_p.P1667S|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1696					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)				CCCCAGCCTACCATTCAGCCA	0.642																																						dbGAP											0													54.0	65.0	62.0					16																	57112966		2194	4298	6492	-	-	-	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.5086C>T	16.37:g.57112966C>T	ENSP00000262510:p.Pro1696Ser		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.P1696S	ENST00000262510.6	37	c.5086	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.043791	0.00398	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.41065	1.01;1.01;1.01	5.37	0.612	0.17591	.	.	.	.	.	T	0.17195	0.0413	N	0.05608	-0.0099999999999999	0.19300	N	0.999976	B	0.15473	0.013	B	0.12837	0.008	T	0.29610	-1.0006	9	0.09084	T	0.74	.	4.6792	0.12727	0.1569:0.5575:0.0:0.2856	.	1696	Q86WI3	NLRC5_HUMAN	S	1696;1667;1667	ENSP00000262510:P1696S;ENSP00000308886:P1667S;ENSP00000441727:P1667S	ENSP00000262510:P1696S	P	+	1	0	NLRC5	55670467	0.057000	0.20700	0.296000	0.24974	0.017000	0.09413	0.086000	0.14935	0.245000	0.21373	0.591000	0.81541	CCA	NLRC5	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000140853		0.642	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	49	0.00	0	C	NM_032206		57112966	57112966	+1	no_errors	ENST00000262510	ensembl	human	known	69_37n	missense	48	14.29	8	SNP	0.043	T
NLRP2	55655	genome.wustl.edu	37	19	55508823	55508824	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:55508823_55508824insTC	ENST00000543010.1	+	12	3161_3162	c.3018_3019insTC	c.(3019-3021)acafs	p.T1007fs	NLRP2_ENST00000339757.7_Frame_Shift_Ins_p.T985fs|NLRP2_ENST00000263437.6_Frame_Shift_Ins_p.T1004fs|NLRP2_ENST00000537859.1_Frame_Shift_Ins_p.T985fs|NLRP2_ENST00000538819.1_Frame_Shift_Ins_p.T983fs|NLRP2_ENST00000391721.4_Frame_Shift_Ins_p.T983fs|NLRP2_ENST00000427260.2_Frame_Shift_Ins_p.T984fs|NLRP2_ENST00000448584.2_Frame_Shift_Ins_p.T1007fs	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1007					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTGAAACCTTGACATGTTCCAG	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	Exception_encountered	19.37:g.55508823_55508824insTC	ENSP00000445135:p.Thr1007fs		B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Frame_Shift_Ins	INS	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T1006fs	ENST00000543010.1	37	c.3018_3019	CCDS12913.1	19																																																																																			NLRP2	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000022556		0.525	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	154	0.00	0	-	NM_017852		55508823	55508824	+1	no_errors	ENST00000448584	ensembl	human	known	69_37n	frame_shift_ins	173	13.07	26	INS	0.051:0.038	TC
NOM1	64434	genome.wustl.edu	37	7	156758977	156758977	+	Missense_Mutation	SNP	G	G	A	rs371030013		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:156758977G>A	ENST00000275820.3	+	8	2062	c.2047G>A	c.(2047-2049)Gat>Aat	p.D683N		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	683	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGGACTTAAGGATCAGCAGGA	0.438																																						dbGAP											0													187.0	159.0	168.0					7																	156758977		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.2047G>A	7.37:g.156758977G>A	ENSP00000275820:p.Asp683Asn		Q96I08	Missense_Mutation	SNP	pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI	p.D683N	ENST00000275820.3	37	c.2047	CCDS34787.1	7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365353	0.82463	.	.	ENSG00000146909	ENST00000275820	T	0.12672	2.66	5.1	5.1	0.69264	Initiation factor eIF-4 gamma, MA3 (3);	0.048657	0.85682	D	0.000000	T	0.16811	0.0404	L	0.42487	1.325	0.80722	D	1	B	0.34103	0.437	B	0.38225	0.268	T	0.05099	-1.0906	10	0.22706	T	0.39	-24.6038	18.4879	0.90836	0.0:0.0:1.0:0.0	.	683	Q5C9Z4	NOM1_HUMAN	N	683	ENSP00000275820:D683N	ENSP00000275820:D683N	D	+	1	0	NOM1	156451738	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	9.445000	0.97587	2.360000	0.80028	0.655000	0.94253	GAT	NOM1	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI	ENSG00000146909		0.438	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOM1	HGNC	protein_coding	OTTHUMT00000327098.1	219	0.00	0	G	NM_138400		156758977	156758977	+1	no_errors	ENST00000275820	ensembl	human	known	69_37n	missense	106	10.17	12	SNP	1.000	A
NOTCH2	4853	genome.wustl.edu	37	1	120510700	120510700	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:120510700C>T	ENST00000256646.2	-	7	1483	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	422	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		GCTTACTCACCCATGGCACAT	0.438			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013734	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													131.0	109.0	117.0					1																	120510700		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	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.1264+1G>A	1.37:g.120510700C>T		1504	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.A422T	ENST00000256646.2	37	c.1264	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	17.78	3.473913	0.63737	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.87256	-2.23	5.44	4.53	0.55603	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.36444	U	0.002594	T	0.66297	0.2775	N	0.22421	0.69	0.47037	D	0.999296	B;B;B	0.12630	0.006;0.002;0.001	B;B;B	0.16289	0.015;0.009;0.012	T	0.63211	-0.6688	9	.	.	.	.	13.1986	0.59754	0.0:0.9245:0.0:0.0755	.	383;422;422	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	T	422;383	ENSP00000256646:A422T	.	A	-	1	0	NOTCH2	120312223	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	5.628000	0.67791	1.537000	0.49254	0.650000	0.86243	GCC	NOTCH2	-	pirsf_Notch,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000134250		0.438	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	126	0.00	0	C	NM_024408	Missense_Mutation	120510700	120510700	-1	no_errors	ENST00000256646	ensembl	human	known	69_37n	missense	62	21.52	17	SNP	1.000	T
NPLOC4	55666	genome.wustl.edu	37	17	79556051	79556051	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:79556051C>T	ENST00000331134.6	-	12	1415	c.1200G>A	c.(1198-1200)ttG>ttA	p.L400L	NPLOC4_ENST00000374747.5_Silent_p.L400L|NPLOC4_ENST00000539314.1_Silent_p.L239L	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	400					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGCATGGCAGCAAACACTCAT	0.498																																						dbGAP											0													89.0	93.0	92.0					17																	79556051		2072	4226	6298	-	-	-	SO:0001819	synonymous_variant	0			AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.1200G>A	17.37:g.79556051C>T			Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Silent	SNP	pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4	p.L400	ENST00000331134.6	37	c.1200	CCDS45812.1	17																																																																																			NPLOC4	-	pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4	ENSG00000182446		0.498	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPLOC4	HGNC	protein_coding	OTTHUMT00000440140.1	108	0.00	0	C			79556051	79556051	-1	no_errors	ENST00000374747	ensembl	human	known	69_37n	silent	102	23.31	31	SNP	0.996	T
NR1H4	9971	genome.wustl.edu	37	12	100904596	100904596	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:100904596C>T	ENST00000551379.1	+	2	178	c.150C>T	c.(148-150)aaC>aaT	p.N50N	NR1H4_ENST00000188403.7_Silent_p.N50N|NR1H4_ENST00000392986.3_Silent_p.N40N|NR1H4_ENST00000549996.1_Silent_p.N40N|NR1H4_ENST00000548884.1_Silent_p.N40N			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	50					bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TGGGACAGAACCTGGAAGTGG	0.433																																						dbGAP											0													68.0	61.0	64.0					12																	100904596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.150C>T	12.37:g.100904596C>T			A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.N50	ENST00000551379.1	37	c.150	CCDS55876.1	12																																																																																			NR1H4	-	NULL	ENSG00000012504		0.433	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	HGNC	protein_coding	OTTHUMT00000409140.1	114	0.00	0	C	NM_005123		100904596	100904596	+1	no_errors	ENST00000551379	ensembl	human	known	69_37n	silent	100	20.47	26	SNP	0.027	T
NRAP	4892	genome.wustl.edu	37	10	115355432	115355432	+	Missense_Mutation	SNP	C	C	T	rs545339088		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:115355432C>T	ENST00000359988.3	-	38	4730	c.4486G>A	c.(4486-4488)Gac>Aac	p.D1496N	NRAP_ENST00000360478.3_Missense_Mutation_p.D1461N|NRAP_ENST00000369360.3_Missense_Mutation_p.D1469N|NRAP_ENST00000369358.4_Missense_Mutation_p.D1504N	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCGGGATGGTCGGGGATCAGG	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		19085	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													195.0	163.0	174.0					10																	115355432		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4486G>A	10.37:g.115355432C>T	ENSP00000353078:p.Asp1496Asn			Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.D1504N	ENST00000359988.3	37	c.4510	CCDS7579.1	10	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783945	0.90282	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.84606	0.5509	M	0.87381	2.88	0.49130	D	0.999757	D;D;D;D	0.89917	0.995;1.0;1.0;1.0	P;D;D;D	0.79784	0.838;0.993;0.988;0.993	D	0.86220	0.1630	10	0.72032	D	0.01	.	18.1269	0.89589	0.0:1.0:0.0:0.0	.	654;1496;1461;1496	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	N	1504;1469;1496;1461;654	ENSP00000358365:D1504N;ENSP00000358367:D1469N;ENSP00000353078:D1496N;ENSP00000353666:D1461N	ENSP00000353078:D1496N	D	-	1	0	NRAP	115345422	1.000000	0.71417	0.978000	0.43139	0.758000	0.43043	6.861000	0.75478	2.826000	0.97356	0.655000	0.94253	GAC	NRAP	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000197893		0.498	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050425.2	51	0.00	0	C	NM_006175		115355432	115355432	-1	no_errors	ENST00000369358	ensembl	human	known	69_37n	missense	93	24.39	30	SNP	0.998	T
NRCAM	4897	genome.wustl.edu	37	7	107849983	107849983	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:107849983C>T	ENST00000425651.2	-	9	956	c.957G>A	c.(955-957)aaG>aaA	p.K319K	NRCAM_ENST00000379024.4_Silent_p.K300K|NRCAM_ENST00000413765.2_Silent_p.K300K|NRCAM_ENST00000379022.4_Silent_p.K319K|NRCAM_ENST00000379028.3_Silent_p.K319K|NRCAM_ENST00000351718.4_Silent_p.K313K	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	319	Ig-like 3.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCTCAAAGTTCTTATAAACTG	0.368																																						dbGAP											0													172.0	163.0	166.0					7																	107849983		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.957G>A	7.37:g.107849983C>T			A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	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.K319	ENST00000425651.2	37	c.957	CCDS47686.1	7																																																																																			NRCAM	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000091129		0.368	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	236	0.00	0	C	NM_001037132		107849983	107849983	-1	no_errors	ENST00000379028	ensembl	human	known	69_37n	silent	181	16.51	36	SNP	0.995	T
NRP2	8828	genome.wustl.edu	37	2	206659746	206659746	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:206659746C>T	ENST00000357785.5	+	17	2776	c.2745C>T	c.(2743-2745)gtC>gtT	p.V915V	NRP2_ENST00000540841.1_Silent_p.V898V|NRP2_ENST00000412873.2_Silent_p.V898V|NRP2_ENST00000360409.3_Silent_p.V920V|NRP2_ENST00000540178.1_Silent_p.V915V			Q99435	NELL2_HUMAN	neuropilin 2	0						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						AGCACAAGGTCAAGATGAACC	0.522																																						dbGAP											0													89.0	67.0	74.0					2																	206659746		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2745C>T	2.37:g.206659746C>T			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	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_CUB,superfamily_ConA-like_lec_gl,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.V920	ENST00000357785.5	37	c.2760	CCDS46496.1	2																																																																																			NRP2	-	pirsf_Neuropilin,pfam_Neuropilin1_C	ENSG00000118257		0.522	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1	49	0.00	0	C			206659746	206659746	+1	no_errors	ENST00000360409	ensembl	human	known	69_37n	silent	38	39.68	25	SNP	1.000	T
NSUN5	55695	genome.wustl.edu	37	7	72717629	72717629	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:72717629G>A	ENST00000252594.6	-	9	1269	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	NSUN5_ENST00000428206.1_Silent_p.F380F|NSUN5_ENST00000310326.8_Silent_p.F418F|NSUN5_ENST00000438747.2_Silent_p.F418F			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	418					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TTACAGCAACGAAGAAGCCAC	0.642																																						dbGAP											0													73.0	69.0	70.0					7																	72717629		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.1254C>T	7.37:g.72717629G>A			B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.F418	ENST00000252594.6	37	c.1254	CCDS5547.1	7																																																																																			NSUN5	-	pfam_Fmu/NOL1/Nop2p,prints_RCMT	ENSG00000130305		0.642	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	HGNC	protein_coding	OTTHUMT00000252113.1	36	0.00	0	G	NM_148956		72717629	72717629	-1	no_errors	ENST00000438747	ensembl	human	known	69_37n	silent	36	45.45	30	SNP	0.607	A
NSUN5	55695	genome.wustl.edu	37	7	72718261	72718261	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:72718261G>A	ENST00000252594.6	-	7	915	c.900C>T	c.(898-900)caC>caT	p.H300H	NSUN5_ENST00000428206.1_Silent_p.H262H|NSUN5_ENST00000310326.8_Silent_p.H300H|NSUN5_ENST00000438747.2_Silent_p.H300H			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	300					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCAGGATGTAGTGGACCTCAT	0.622																																						dbGAP											0													46.0	41.0	43.0					7																	72718261		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.900C>T	7.37:g.72718261G>A			B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.H300	ENST00000252594.6	37	c.900	CCDS5547.1	7																																																																																			NSUN5	-	pfam_Fmu/NOL1/Nop2p,prints_RCMT	ENSG00000130305		0.622	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	HGNC	protein_coding	OTTHUMT00000252113.1	23	0.00	0	G	NM_148956		72718261	72718261	-1	no_errors	ENST00000438747	ensembl	human	known	69_37n	silent	20	28.57	8	SNP	1.000	A
NT5DC1	221294	genome.wustl.edu	37	6	116436853	116436853	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:116436853G>A	ENST00000319550.4	+	5	446		c.e5-1			NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1								hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		TTCTTTTTTAGGAAAGTATTA	0.363																																					Colon(128;1440 1664 38087 41475 42869)	dbGAP											0													101.0	96.0	97.0					6																	116436853		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.365-1G>A	6.37:g.116436853G>A			B2RND9|B3KR35|Q6XYD5	Splice_Site	SNP	-	e5-1	ENST00000319550.4	37	c.365-1	CCDS5104.1	6	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008114	0.75046	.	.	ENSG00000178425	ENST00000368618;ENST00000319550;ENST00000419791;ENST00000417846	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0724	0.89413	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NT5DC1	116543546	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	8.487000	0.90454	2.699000	0.92147	0.655000	0.94253	.	NT5DC1	-	-	ENSG00000178425		0.363	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC1	HGNC	protein_coding	OTTHUMT00000041931.3	83	0.00	0	G	NM_152729	Intron	116436853	116436853	+1	no_errors	ENST00000319550	ensembl	human	known	69_37n	splice_site	75	15.56	14	SNP	1.000	A
NUP133	55746	genome.wustl.edu	37	1	229635512	229635512	+	Silent	SNP	G	G	A	rs138400798	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:229635512G>A	ENST00000261396.3	-	5	658	c.567C>T	c.(565-567)agC>agT	p.S189S	NUP133_ENST00000537506.1_Silent_p.S173S|NUP133_ENST00000366678.3_Silent_p.S189S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	189					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 export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|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)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CACCAGCAAGGCTTGGCCAAT	0.453																																						dbGAP											0													96.0	94.0	95.0					1																	229635512		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.567C>T	1.37:g.229635512G>A			B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Silent	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N	p.S189	ENST00000261396.3	37	c.567	CCDS1579.1	1																																																																																			NUP133	-	pfam_Nucleoporin_Nup133/Nup155_N	ENSG00000069248		0.453	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	HGNC	protein_coding	OTTHUMT00000095224.1	155	0.00	0	G	NM_018230		229635512	229635512	-1	no_errors	ENST00000261396	ensembl	human	known	69_37n	silent	116	18.31	26	SNP	0.999	A
NUP188	23511	genome.wustl.edu	37	9	131764196	131764196	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:131764196C>T	ENST00000372577.2	+	36	4099	c.4078C>T	c.(4078-4080)Cag>Tag	p.Q1360*	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1360					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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGGCATCACCCAGAGCATTTG	0.612																																						dbGAP											0													68.0	59.0	62.0					9																	131764196		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4078C>T	9.37:g.131764196C>T	ENSP00000361658:p.Gln1360*		Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Nonsense_Mutation	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.Q1360*	ENST00000372577.2	37	c.4078	CCDS35156.1	9	.	.	.	.	.	.	.	.	.	.	C	41	8.714940	0.98925	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	5.03	5.03	0.67393	.	0.051741	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-28.6312	17.1107	0.86674	0.0:1.0:0.0:0.0	.	.	.	.	X	1249;1360	.	ENSP00000349125:Q1249X	Q	+	1	0	NUP188	130804017	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.261000	0.58841	2.619000	0.88677	0.462000	0.41574	CAG	NUP188	-	NULL	ENSG00000095319		0.612	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	50	0.00	0	C			131764196	131764196	+1	no_errors	ENST00000372577	ensembl	human	known	69_37n	nonsense	41	10.87	5	SNP	1.000	T
NUP210	23225	genome.wustl.edu	37	3	13399721	13399721	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:13399721C>T	ENST00000254508.5	-	16	2411		c.e16+1			NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa						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)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCCACACTCACCACCTGCTTG	0.647																																						dbGAP											0													79.0	74.0	76.0					3																	13399721		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.2328+1G>A	3.37:g.13399721C>T			A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Splice_Site	SNP	-	e16+1	ENST00000254508.5	37	c.2328+1	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295665	0.81025	.	.	ENSG00000132182	ENST00000254508	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.134	0.89612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP210	13374721	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.794000	0.85869	2.353000	0.79882	0.609000	0.83330	.	NUP210	-	-	ENSG00000132182		0.647	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	35	0.00	0	C	NM_024923	Intron	13399721	13399721	-1	no_errors	ENST00000254508	ensembl	human	known	69_37n	splice_site	15	60.53	23	SNP	1.000	T
NUP88	4927	genome.wustl.edu	37	17	5322961	5322961	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:5322961C>T	ENST00000573584.1	-	1	519	c.10G>A	c.(10-12)Gcc>Acc	p.A4T	RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000536255.2_5'UTR|RPAIN_ENST00000381208.5_5'UTR|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000381209.3_5'UTR	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	4					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						GGTCCCTCGGCGGCCGCCATC	0.647																																						dbGAP											0													33.0	36.0	35.0					17																	5322961		2202	4298	6500	-	-	-	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.10G>A	17.37:g.5322961C>T	ENSP00000458954:p.Ala4Thr		D3DTM2|Q9BWE5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup88	p.A4T	ENST00000573584.1	37	c.10	CCDS11070.1	17	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827026	0.90955	.	.	ENSG00000108559	ENST00000225696	.	.	.	4.98	4.98	0.66077	.	0.207708	0.40469	N	0.001096	T	0.41003	0.1140	L	0.44542	1.39	0.80722	D	1	P;P	0.40638	0.725;0.509	B;B	0.26202	0.067;0.067	T	0.51028	-0.8757	9	0.66056	D	0.02	-2.2613	15.4674	0.75412	0.0:1.0:0.0:0.0	.	4;4	B7Z5I6;Q99567	.;NUP88_HUMAN	T	4	.	ENSP00000225696:A4T	A	-	1	0	NUP88	5263685	0.427000	0.25514	0.283000	0.24790	0.070000	0.16714	2.599000	0.46231	2.756000	0.94617	0.655000	0.94253	GCC	NUP88	-	NULL	ENSG00000108559		0.647	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP88	HGNC	protein_coding	OTTHUMT00000216918.3	20	0.00	0	C	NM_002532		5322961	5322961	-1	no_errors	ENST00000573584	ensembl	human	known	69_37n	missense	13	52.94	18	SNP	0.531	T
NUP85	79902	genome.wustl.edu	37	17	73222115	73222115	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:73222115C>T	ENST00000245544.4	+	11	1058				NUP85_ENST00000449421.2_Intron|NUP85_ENST00000579298.1_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000447371.2_Intron|NUP85_ENST00000541827.1_Intron|NUP85_ENST00000540768.1_5'Flank	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|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)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CTTCCGTCCTCAGGATTGAGT	0.557																																						dbGAP											0													60.0	56.0	57.0					17																	73222115		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.988-31C>T	17.37:g.73222115C>T			B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	RNA	SNP	-	NULL	ENST00000245544.4	37	NULL	CCDS32730.1	17																																																																																			NUP85	-	-	ENSG00000125450		0.557	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP85	HGNC	protein_coding	OTTHUMT00000446619.1	90	0.00	0	C	NM_024844		73222115	73222115	+1	no_errors	ENST00000583948	ensembl	human	known	69_37n	rna	113	14.39	19	SNP	0.000	T
NXF1	10482	genome.wustl.edu	37	11	62571307	62571307	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:62571307C>T	ENST00000532297.1	-	3	801	c.172G>A	c.(172-174)Gat>Aat	p.D58N	NXF1_ENST00000294172.2_Missense_Mutation_p.D58N|NXF1_ENST00000531709.2_Missense_Mutation_p.D58N|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000439713.2_Missense_Mutation_p.D58N			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	58	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						ATTGCCACATCTCCATCATCT	0.522																																						dbGAP											0													159.0	142.0	148.0					11																	62571307		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.172G>A	11.37:g.62571307C>T	ENSP00000436679:p.Asp58Asn		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.D58N	ENST00000532297.1	37	c.172	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	21.3	4.131368	0.77549	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.56275	0.69;0.69;0.63;0.47	4.82	4.82	0.62117	.	0.055328	0.64402	D	0.000001	T	0.63070	0.2480	L	0.41573	1.285	0.58432	D	0.999999	B;D;D	0.89917	0.196;1.0;0.999	B;D;D	0.80764	0.047;0.994;0.914	T	0.59359	-0.7469	10	0.33141	T	0.24	-21.7653	15.4751	0.75471	0.0:1.0:0.0:0.0	.	101;71;58	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	N	58;58;101;58	ENSP00000294172:D58N;ENSP00000436679:D58N;ENSP00000435742:D101N;ENSP00000408864:D58N	ENSP00000294172:D58N	D	-	1	0	NXF1	62327883	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.276000	0.72601	2.503000	0.84419	0.655000	0.94253	GAT	NXF1	-	NULL	ENSG00000162231		0.522	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	218	0.00	0	C	NM_006362		62571307	62571307	-1	no_errors	ENST00000294172	ensembl	human	known	69_37n	missense	152	15.08	27	SNP	1.000	T
NYAP1	222950	genome.wustl.edu	37	7	100085948	100085948	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:100085948G>A	ENST00000300179.2	+	4	763	c.604G>A	c.(604-606)Gta>Ata	p.V202I	NYAP1_ENST00000454988.1_Missense_Mutation_p.V145I|NYAP1_ENST00000423930.1_Missense_Mutation_p.V202I	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	202					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGGGTCCCGAGTAGCTGGGGA	0.632																																						dbGAP											0													40.0	47.0	44.0					7																	100085948		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.604G>A	7.37:g.100085948G>A	ENSP00000300179:p.Val202Ile		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	NULL	p.V202I	ENST00000300179.2	37	c.604	CCDS5696.1	7	.	.	.	.	.	.	.	.	.	.	G	1.952	-0.441084	0.04636	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.40225	1.04;1.04;1.04	5.03	-0.166	0.13351	.	1.413460	0.04718	N	0.418881	T	0.26340	0.0643	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13019	-1.0525	10	0.21014	T	0.42	1.6054	4.3192	0.11009	0.392:0.1635:0.4445:0.0	.	202	Q6ZVC0	CG051_HUMAN	I	202;202;145	ENSP00000300179:V202I;ENSP00000411861:V202I;ENSP00000394424:V145I	ENSP00000300179:V202I	V	+	1	0	C7orf51	99923884	0.000000	0.05858	0.000000	0.03702	0.981000	0.71138	-0.502000	0.06390	-0.374000	0.07967	0.407000	0.27541	GTA	NYAP1	-	NULL	ENSG00000166924		0.632	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NYAP1	HGNC	protein_coding	OTTHUMT00000339335.2	60	0.00	0	G	NM_173564		100085948	100085948	+1	no_errors	ENST00000423930	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	0.002	A
OAS3	4940	genome.wustl.edu	37	12	113405875	113405875	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:113405875G>A	ENST00000228928.7	+	14	3179	c.3000G>A	c.(2998-3000)gaG>gaA	p.E1000E	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1000	OAS domain 3.				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						CGGTCCTGGAGCTGGTCACCC	0.582																																						dbGAP											0													58.0	61.0	60.0					12																	113405875		1985	4153	6138	-	-	-	SO:0001819	synonymous_variant	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.3000G>A	12.37:g.113405875G>A			Q2HJ14|Q9H3P5	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.E1000	ENST00000228928.7	37	c.3000	CCDS44981.1	12																																																																																			OAS3	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000111331		0.582	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	68	0.00	0	G			113405875	113405875	+1	no_errors	ENST00000228928	ensembl	human	known	69_37n	silent	33	13.16	5	SNP	0.955	A
OASL	8638	genome.wustl.edu	37	12	121471334	121471334	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:121471334G>A	ENST00000257570.5	-	2	681	c.411C>T	c.(409-411)gtC>gtT	p.V137V	OASL_ENST00000339275.5_Silent_p.V137V	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	137					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)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGATGGTGAAGACGAGAGCAT	0.607																																					Colon(192;517 2041 31392 31913 39966)	dbGAP											0													119.0	101.0	107.0					12																	121471334		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.411C>T	12.37:g.121471334G>A			B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Silent	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup	p.V137	ENST00000257570.5	37	c.411	CCDS9211.1	12																																																																																			OASL	-	NULL	ENSG00000135114		0.607	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OASL	HGNC	protein_coding	OTTHUMT00000337875.2	44	0.00	0	G	NM_003733		121471334	121471334	-1	no_errors	ENST00000257570	ensembl	human	known	69_37n	silent	61	11.59	8	SNP	0.358	A
OCLN	100506658	genome.wustl.edu	37	5	68840936	68840936	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:68840936G>A	ENST00000355237.2	+	6	1679	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	OCLN_ENST00000380766.2_Missense_Mutation_p.D361N|OCLN_ENST00000514370.1_3'UTR|OCLN_ENST00000542132.1_Missense_Mutation_p.D93N|OCLN_ENST00000538151.1_Missense_Mutation_p.D164N|OCLN_ENST00000396442.2_Missense_Mutation_p.D415N	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	415					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCTGGAGGAGGACTGGATCAG	0.512																																						dbGAP											0													85.0	74.0	78.0					5																	68840936		2202	4297	6499	-	-	-	SO:0001583	missense	0			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.1243G>A	5.37:g.68840936G>A	ENSP00000347379:p.Asp415Asn		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Missense_Mutation	SNP	pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom,pirsf_Occludin,prints_Occludin	p.D415N	ENST00000355237.2	37	c.1243	CCDS4006.1	5	.	.	.	.	.	.	.	.	.	.	G	23.1	4.372069	0.82573	.	.	ENSG00000197822	ENST00000355237;ENST00000396442;ENST00000380766;ENST00000538151;ENST00000542132	D;D;D	0.84370	-1.76;-1.76;-1.84	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.86764	0.6011	M	0.77820	2.39	0.48975	D	0.999739	P	0.45212	0.853	B	0.42112	0.376	D	0.89340	0.3653	10	0.72032	D	0.01	-23.0591	17.3236	0.87241	0.0:0.0:1.0:0.0	.	415	Q16625	OCLN_HUMAN	N	415;415;361;164;93	ENSP00000347379:D415N;ENSP00000379719:D415N;ENSP00000370143:D361N	ENSP00000347379:D415N	D	+	1	0	OCLN	68876692	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.344000	0.72991	2.446000	0.82766	0.644000	0.83932	GAC	OCLN	-	pirsf_Occludin	ENSG00000197822		0.512	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCLN	HGNC	protein_coding	OTTHUMT00000216794.1	86	0.00	0	G	NM_002538		68840936	68840936	+1	no_errors	ENST00000355237	ensembl	human	known	69_37n	missense	113	13.74	18	SNP	1.000	A
TENM1	10178	genome.wustl.edu	37	X	123518321	123518322	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:123518321_123518322insA	ENST00000371130.3	-	29	6501_6502	c.6438_6439insT	c.(6436-6441)ataacafs	p.T2147fs	TENM1_ENST00000422452.2_Frame_Shift_Ins_p.T2154fs|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2147					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)										AAGTACCTTGTTATATTGGCAT	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_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.6438_6439insT	X.37:g.123518321_123518322insA	ENSP00000360171:p.Thr2147fs		B2RTR5|Q5JZ17	Frame_Shift_Ins	INS	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD	p.T2153fs	ENST00000371130.3	37	c.6460_6459	CCDS14609.1	X																																																																																			ODZ1	-	NULL	ENSG00000009694		0.396	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	HGNC	protein_coding	OTTHUMT00000058985.1	368	0.00	0	-	NM_014253		123518321	123518322	-1	no_errors	ENST00000422452	ensembl	human	known	69_37n	frame_shift_ins	275	11.29	35	INS	1.000:0.604	A
TENM1	10178	genome.wustl.edu	37	X	123518323	123518323	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:123518323A>T	ENST00000371130.3	-	29	6500	c.6437T>A	c.(6436-6438)aTa>aAa	p.I2146K	TENM1_ENST00000422452.2_Missense_Mutation_p.I2153K|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2146					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)										GTACCTTGTTATATTGGCATC	0.398																																						dbGAP											0													197.0	168.0	178.0					X																	123518323		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.6437T>A	X.37:g.123518323A>T	ENSP00000360171:p.Ile2146Lys		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.I2153K	ENST00000371130.3	37	c.6458	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	A	13.75	2.330803	0.41297	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.85171	-1.95;-1.92	5.46	5.46	0.80206	.	0.118515	0.64402	D	0.000015	D	0.83644	0.5299	L	0.36672	1.1	0.80722	D	1	D;B;B	0.56035	0.974;0.037;0.098	P;B;B	0.49140	0.601;0.017;0.035	D	0.85399	0.1130	10	0.62326	D	0.03	.	14.5617	0.68144	1.0:0.0:0.0:0.0	.	2152;2153;2146	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	2146;2153	ENSP00000360171:I2146K;ENSP00000403954:I2153K	ENSP00000360171:I2146K	I	-	2	0	ODZ1	123346004	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.159000	0.64923	1.819000	0.53055	0.441000	0.28932	ATA	ODZ1	-	NULL	ENSG00000009694		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	HGNC	protein_coding	OTTHUMT00000058985.1	382	0.00	0	A	NM_014253		123518323	123518323	-1	no_errors	ENST00000422452	ensembl	human	known	69_37n	missense	278	12.26	39	SNP	0.976	T
TENM4	26011	genome.wustl.edu	37	11	78423690	78423690	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:78423690G>A	ENST00000278550.7	-	26	4353	c.3891C>T	c.(3889-3891)agC>agT	p.S1297S		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1297					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)										GCCGGCTGTTGCTGTCAGAAA	0.542																																						dbGAP											0													64.0	66.0	66.0					11																	78423690		1902	4098	6000	-	-	-	SO:0001819	synonymous_variant	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.3891C>T	11.37:g.78423690G>A			A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	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.S1297	ENST00000278550.7	37	c.3891	CCDS44688.1	11																																																																																			ODZ4	-	NULL	ENSG00000149256		0.542	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	150	0.00	0	G			78423690	78423690	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	silent	129	21.34	35	SNP	1.000	A
OGFR	11054	genome.wustl.edu	37	20	61441001	61441001	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:61441001C>T	ENST00000290291.6	+	4	409	c.384C>T	c.(382-384)caC>caT	p.H128H	OGFR_ENST00000370461.1_Silent_p.H76H	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	128					opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					AGGACAATCACTCCTACATCC	0.612																																						dbGAP											0													92.0	80.0	84.0					20																	61441001		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.384C>T	20.37:g.61441001C>T			O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	pfam_OGF_rcpt,pfam_OGF_rcpt_rpt	p.H128	ENST00000290291.6	37	c.384	CCDS13504.1	20																																																																																			OGFR	-	pfam_OGF_rcpt	ENSG00000060491		0.612	OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGFR	HGNC	protein_coding	OTTHUMT00000080067.1	15	0.00	0	C			61441001	61441001	+1	no_errors	ENST00000290291	ensembl	human	known	69_37n	silent	2	80.00	8	SNP	1.000	T
OLR1	4973	genome.wustl.edu	37	12	10319454	10319454	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:10319454G>A	ENST00000309539.3	-	3	341	c.281C>T	c.(280-282)gCt>gTt	p.A94V	OLR1_ENST00000432556.2_Missense_Mutation_p.A94V|OLR1_ENST00000543993.1_5'UTR|OLR1_ENST00000545927.1_Missense_Mutation_p.A94V|OLR1_ENST00000544577.1_Missense_Mutation_p.A94V	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	94	Neck.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell death (GO:0008219)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|lipoprotein metabolic process (GO:0042157)|proteolysis (GO:0006508)|response to hydrogen peroxide (GO:0042542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|low-density lipoprotein receptor activity (GO:0005041)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTCCTGTGAAGCTTCTTCTGC	0.463																																						dbGAP											0													191.0	181.0	185.0					12																	10319454		2203	4300	6503	-	-	-	SO:0001583	missense	0			D89050	CCDS8618.1, CCDS53745.1, CCDS53746.1	12p13.1-p12.3	2011-08-30	2006-12-07		ENSG00000173391	ENSG00000173391		"""C-type lectin domain containing"""	8133	protein-coding gene	gene with protein product		602601	"""oxidised low density lipoprotein (lectin-like) receptor 1"""			9763655	Standard	NM_002543		Approved	LOX-1, SCARE1, CLEC8A	uc001qxo.1	P78380	OTTHUMG00000168527	ENST00000309539.3:c.281C>T	12.37:g.10319454G>A	ENSP00000309124:p.Ala94Val		A8K7V9|B4DI48|G3V1I4|Q2PP00|Q7Z484	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.A94V	ENST00000309539.3	37	c.281	CCDS8618.1	12	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128774	0.56721	.	.	ENSG00000173391	ENST00000309539;ENST00000544577;ENST00000545927;ENST00000432556;ENST00000539518;ENST00000543414	T;T;T;T;T	0.43294	4.98;1.29;0.95;1.29;4.85	4.78	3.86	0.44501	.	0.966586	0.08501	N	0.936366	T	0.42720	0.1215	L	0.43152	1.355	0.09310	N	1	P;P	0.47302	0.893;0.58	P;B	0.47981	0.563;0.186	T	0.15780	-1.0425	10	0.19590	T	0.45	.	10.7791	0.46367	0.0:0.0:0.8097:0.1903	.	94;94	B4DI48;P78380	.;OLR1_HUMAN	V	94;94;94;94;41;41	ENSP00000309124:A94V;ENSP00000444457:A94V;ENSP00000439251:A94V;ENSP00000405116:A94V;ENSP00000442389:A41V	ENSP00000309124:A94V	A	-	2	0	OLR1	10210721	0.165000	0.22948	0.010000	0.14722	0.789000	0.44602	0.748000	0.26305	1.278000	0.44430	0.591000	0.81541	GCT	OLR1	-	NULL	ENSG00000173391		0.463	OLR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLR1	HGNC	protein_coding	OTTHUMT00000400091.1	245	0.00	0	G	NM_002543		10319454	10319454	-1	no_errors	ENST00000309539	ensembl	human	known	69_37n	missense	319	12.84	47	SNP	0.081	A
OR13A1	79290	genome.wustl.edu	37	10	45799216	45799216	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:45799216G>A	ENST00000553795.1	-	4	963	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	OR13A1_ENST00000374401.2_Silent_p.L219L|OR13A1_ENST00000536058.1_Silent_p.L219L	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	219						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(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GCATCCGCCAGGACAATCATG	0.542																																						dbGAP											0													79.0	78.0	78.0					10																	45799216		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB065728	CCDS31188.1	10q11.21	2012-10-03			ENSG00000256574	ENSG00000256574		"""GPCR / Class A : Olfactory receptors"""	14772	protein-coding gene	gene with protein product							Standard	NM_001004297		Approved		uc001jcc.1	Q8NGR1	OTTHUMG00000018080	ENST00000553795.1:c.655C>T	10.37:g.45799216G>A			Q2M3M4|Q5VV57|Q6IFH5|Q6ZMN6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L219	ENST00000553795.1	37	c.655	CCDS31188.1	10																																																																																			OR13A1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000256574		0.542	OR13A1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR13A1	HGNC	protein_coding	OTTHUMT00000047779.2	107	0.00	0	G	NM_001004297		45799216	45799216	-1	no_errors	ENST00000374401	ensembl	human	known	69_37n	silent	67	65.83	131	SNP	0.001	A
OR51L1	119682	genome.wustl.edu	37	11	5020401	5020401	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:5020401C>T	ENST00000321543.1	+	1	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y63*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATGTATTACTTTATTTCCA	0.448																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											206.0	183.0	191.0					11																	5020401		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.189C>T	11.37:g.5020401C>T			Q6IFE5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Y63	ENST00000321543.1	37	c.189	CCDS31369.1	11																																																																																			OR51L1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176798		0.448	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51L1	HGNC	protein_coding	OTTHUMT00000142812.1	434	0.00	0	C	NM_001004755		5020401	5020401	+1	no_errors	ENST00000321543	ensembl	human	known	69_37n	silent	459	24.05	146	SNP	0.974	T
OR52D1	390066	genome.wustl.edu	37	11	5510153	5510153	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:5510153G>A	ENST00000322641.5	+	1	239	c.217G>A	c.(217-219)Gac>Aac	p.D73N	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	73					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCACTCACAGACCTGGCTCT	0.517																																						dbGAP											0													226.0	173.0	191.0					11																	5510153		2201	4297	6498	-	-	-	SO:0001583	missense	0			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.217G>A	11.37:g.5510153G>A	ENSP00000326232:p.Asp73Asn		B9EGY9|Q6IFI6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D73N	ENST00000322641.5	37	c.217	CCDS31384.1	11	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849339	0.71603	.	.	ENSG00000181609	ENST00000322641	T	0.01165	5.24	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.12092	0.0294	H	0.95224	3.64	0.53688	D	0.999975	D	0.76494	0.999	D	0.69142	0.962	T	0.00551	-1.1675	10	0.87932	D	0	.	18.291	0.90130	0.0:0.0:1.0:0.0	.	73	Q9H346	O52D1_HUMAN	N	73	ENSP00000326232:D73N	ENSP00000326232:D73N	D	+	1	0	OR52D1	5466729	1.000000	0.71417	0.951000	0.38953	0.145000	0.21501	7.742000	0.85008	2.902000	0.99343	0.650000	0.86243	GAC	OR52D1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000181609		0.517	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52D1	HGNC	protein_coding	OTTHUMT00000143372.1	243	0.00	0	G	NM_001005163		5510153	5510153	+1	no_errors	ENST00000322641	ensembl	human	known	69_37n	missense	194	12.95	29	SNP	1.000	A
OR6A2	8590	genome.wustl.edu	37	11	6816747	6816747	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:6816747C>T	ENST00000332601.3	-	1	381	c.193G>A	c.(193-195)Gct>Act	p.A65T		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	65					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)|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(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GACATATTAGCTAGAAAAAAG	0.438																																						dbGAP											0													150.0	139.0	143.0					11																	6816747		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065822	CCDS7772.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184933	ENSG00000184933		"""GPCR / Class A : Olfactory receptors"""	15301	protein-coding gene	gene with protein product		608495		OR6A2P, OR6A1			Standard	NM_003696		Approved	OR11-55	uc001mes.1	O95222	OTTHUMG00000165736	ENST00000332601.3:c.193G>A	11.37:g.6816747C>T	ENSP00000330384:p.Ala65Thr		Q3MJC7|Q6IF35|Q9H206	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.A65T	ENST00000332601.3	37	c.193	CCDS7772.1	11	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006167	0.35415	.	.	ENSG00000184933	ENST00000332601	T	0.01099	5.34	4.95	3.07	0.35406	GPCR, rhodopsin-like superfamily (1);	0.591149	0.14882	N	0.292935	T	0.01189	0.0039	L	0.28740	0.885	0.09310	N	1	P	0.47677	0.899	B	0.43478	0.421	T	0.54682	-0.8257	10	0.24483	T	0.36	.	7.1122	0.25396	0.0:0.7268:0.0:0.2732	.	65	O95222	OR6A2_HUMAN	T	65	ENSP00000330384:A65T	ENSP00000330384:A65T	A	-	1	0	OR6A2	6773323	0.000000	0.05858	0.976000	0.42696	0.784000	0.44337	-0.225000	0.09151	0.796000	0.33947	0.655000	0.94253	GCT	OR6A2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000184933		0.438	OR6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6A2	HGNC	protein_coding	OTTHUMT00000385981.1	256	0.00	0	C	NM_003696		6816747	6816747	-1	no_errors	ENST00000332601	ensembl	human	known	69_37n	missense	235	10.27	27	SNP	0.069	T
OR4B1	119765	genome.wustl.edu	37	11	48238375	48238375	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:48238375G>A	ENST00000309562.2	+	1	32	c.14G>A	c.(13-15)aGt>aAt	p.S5N		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	5						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						GCCAGTACAAGTAATGTGACT	0.463																																						dbGAP											0													160.0	132.0	141.0					11																	48238375		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.14G>A	11.37:g.48238375G>A	ENSP00000311605:p.Ser5Asn		Q6IF75|Q96R64	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S5N	ENST00000309562.2	37	c.14	CCDS31485.1	11	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.967805	0.00457	.	.	ENSG00000175619	ENST00000309562	T	0.54071	0.59	5.31	0.315	0.15852	.	0.349905	0.23993	N	0.042548	T	0.33673	0.0871	L	0.41027	1.25	0.22489	N	0.999053	B	0.02656	0.0	B	0.01281	0.0	T	0.33033	-0.9884	10	0.02654	T	1	.	9.1217	0.36791	0.7343:0.0:0.2657:0.0	.	5	Q8NGF8	OR4B1_HUMAN	N	5	ENSP00000311605:S5N	ENSP00000311605:S5N	S	+	2	0	OR4B1	48194951	0.000000	0.05858	0.476000	0.27291	0.035000	0.12851	-0.109000	0.10840	-0.193000	0.10415	-1.540000	0.00911	AGT	OR4B1	-	NULL	ENSG00000175619		0.463	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4B1	HGNC	protein_coding	OTTHUMT00000390554.1	212	0.00	0	G	NM_001005470		48238375	48238375	+1	no_errors	ENST00000309562	ensembl	human	known	69_37n	missense	227	13.03	34	SNP	0.980	A
OR4A5	81318	genome.wustl.edu	37	11	51412279	51412279	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:51412279C>T	ENST00000319760.6	-	1	169	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	39						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(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAGCAGGTTCCCCACCACTG	0.433																																						dbGAP											0													58.0	53.0	55.0					11																	51412279		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.117G>A	11.37:g.51412279C>T			Q6IF84	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G39	ENST00000319760.6	37	c.117	CCDS31497.1	11																																																																																			OR4A5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000221840		0.433	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A5	HGNC	protein_coding	OTTHUMT00000391399.1	265	0.00	0	C	NM_001005272		51412279	51412279	-1	no_errors	ENST00000319760	ensembl	human	known	69_37n	silent	114	26.92	42	SNP	0.908	T
OR6C76	390326	genome.wustl.edu	37	12	55820774	55820774	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:55820774C>T	ENST00000328314.3	+	1	737	c.737C>T	c.(736-738)tCt>tTt	p.S246F		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	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)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATTGTTGTCTCTATCTCTTAT	0.408																																						dbGAP											0													130.0	114.0	119.0					12																	55820774		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.737C>T	12.37:g.55820774C>T	ENSP00000328402:p.Ser246Phe			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.S246F	ENST00000328314.3	37	c.737	CCDS31823.1	12	.	.	.	.	.	.	.	.	.	.	c	15.14	2.745219	0.49151	.	.	ENSG00000185821	ENST00000328314	T	0.37752	1.18	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	U	0.000316	T	0.54287	0.1849	M	0.79805	2.47	0.09310	N	1	D	0.56035	0.974	P	0.59012	0.85	T	0.49725	-0.8909	10	0.72032	D	0.01	.	10.0863	0.42421	0.0:0.9039:0.0:0.0961	.	246	A6NM76	O6C76_HUMAN	F	246	ENSP00000328402:S246F	ENSP00000328402:S246F	S	+	2	0	OR6C76	54107041	0.000000	0.05858	0.795000	0.32087	0.905000	0.53344	-0.312000	0.08113	2.240000	0.73641	0.531000	0.56144	TCT	OR6C76	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000185821		0.408	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	229	0.00	0	C	NM_001005183		55820774	55820774	+1	no_errors	ENST00000328314	ensembl	human	known	69_37n	missense	144	18.18	32	SNP	0.010	T
OSBPL2	9885	genome.wustl.edu	37	20	60869004	60869004	+	3'UTR	SNP	G	G	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:60869004G>C	ENST00000313733.3	+	0	1706				OSBPL2_ENST00000439951.2_Missense_Mutation_p.W368C|OSBPL2_ENST00000358053.2_3'UTR|OSBPL2_ENST00000471817.1_3'UTR	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2						lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TCCTCGAGTGGCCACTGTGAG	0.542																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.*61G>C	20.37:g.60869004G>C			A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	pfam_Oxysterol-bd	p.W368C	ENST00000313733.3	37	c.1104	CCDS13495.1	20	.	.	.	.	.	.	.	.	.	.	G	6.102	0.387099	0.11581	.	.	ENSG00000130703	ENST00000439951	T	0.54279	0.58	4.07	2.09	0.27110	.	.	.	.	.	T	0.38692	0.1050	.	.	.	0.09310	N	1	P	0.47034	0.889	B	0.37550	0.253	T	0.25257	-1.0137	8	0.87932	D	0	.	7.2428	0.26106	0.212:0.0:0.788:0.0	.	368	E7ET92	.	C	368	ENSP00000397602:W368C	ENSP00000397602:W368C	W	+	3	0	OSBPL2	60302399	0.084000	0.21492	0.017000	0.16124	0.094000	0.18550	2.061000	0.41403	0.691000	0.31592	0.561000	0.74099	TGG	OSBPL2	-	NULL	ENSG00000130703		0.542	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL2	HGNC	protein_coding	OTTHUMT00000080021.1	16	0.00	0	G	NM_014835		60869004	60869004	+1	no_errors	ENST00000439951	ensembl	human	known	69_37n	missense	27	14.71	5	SNP	0.020	C
OSBPL3	26031	genome.wustl.edu	37	7	24874077	24874077	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:24874077C>T	ENST00000313367.2	-	15	2198				OSBPL3_ENST00000396431.1_Intron|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000353930.1_Intron|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000396429.1_Intron	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3						lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CGAGGCTGGACAGTGGCAAGG	0.602																																						dbGAP											0													56.0	59.0	58.0					7																	24874077		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.1746+27G>A	7.37:g.24874077C>T			A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.V592I	ENST00000313367.2	37	c.1774	CCDS5390.1	7																																																																																			OSBPL3	-	NULL	ENSG00000070882		0.602	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL3	HGNC	protein_coding	OTTHUMT00000214085.2	124	0.00	0	C			24874077	24874077	-1	no_errors	ENST00000409452	ensembl	human	known	69_37n	missense	131	21.43	36	SNP	0.000	T
OTC	5009	genome.wustl.edu	37	X	38271225	38271225	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:38271225G>A	ENST00000039007.4	+	9	1130	c.978G>A	c.(976-978)gaG>gaA	p.E326E	TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	326			E -> K (in OTCD). {ECO:0000269|PubMed:10070627}.		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TGTTCCCAGAGGCAGAAAACA	0.438																																						dbGAP											0													115.0	99.0	105.0					X																	38271225		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.978G>A	X.37:g.38271225G>A			A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Silent	SNP	pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf_euk,tigrfam_Orn/put_carbamltrans	p.E326	ENST00000039007.4	37	c.978	CCDS14247.1	X																																																																																			OTC	-	pfam_Asp_carbamoyltransf_Asp/Orn-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf_euk,tigrfam_Orn/put_carbamltrans	ENSG00000036473		0.438	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTC	HGNC	protein_coding	OTTHUMT00000059006.2	487	0.00	0	G			38271225	38271225	+1	no_errors	ENST00000039007	ensembl	human	known	69_37n	silent	349	26.22	124	SNP	1.000	A
OVGP1	5016	genome.wustl.edu	37	1	111962264	111962264	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:111962264C>T	ENST00000369732.3	-	9	1043	c.988G>A	c.(988-990)Ggc>Agc	p.G330S	OVGP1_ENST00000540696.1_Silent_p.L171L|OVGP1_ENST00000481495.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	330					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTGTCATAGCCAACCCACTCT	0.493																																						dbGAP											0													234.0	209.0	217.0					1																	111962264		2203	4300	6503	-	-	-	SO:0001583	missense	0			U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.988G>A	1.37:g.111962264C>T	ENSP00000358747:p.Gly330Ser		A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.G330S	ENST00000369732.3	37	c.988	CCDS834.1	1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.767709	0.90020	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.40756	1.02	5.12	4.19	0.49359	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.156124	0.56097	D	0.000025	T	0.31638	0.0803	N	0.11255	0.115	0.80722	D	1	D;D	0.69078	0.997;0.957	D;P	0.74023	0.982;0.818	T	0.20338	-1.0278	10	0.45353	T	0.12	-24.2575	11.7265	0.51712	0.0:0.9115:0.0:0.0885	.	330;394	Q12889;Q59HH5	OVGP1_HUMAN;.	S	330;394;138	ENSP00000358747:G330S	ENSP00000358743:G394S	G	-	1	0	OVGP1	111763787	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.101000	0.64566	2.657000	0.90304	0.591000	0.81541	GGC	OVGP1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000085465		0.493	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVGP1	HGNC	protein_coding	OTTHUMT00000032461.1	389	0.00	0	C	NM_002557		111962264	111962264	-1	no_errors	ENST00000369732	ensembl	human	known	69_37n	missense	223	15.79	42	SNP	1.000	T
P4HA1	5033	genome.wustl.edu	37	10	74803710	74803710	+	Intron	SNP	G	G	A	rs1130881		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:74803710G>A	ENST00000307116.2	-	9	1265				P4HA1_ENST00000394890.2_Intron|P4HA1_ENST00000263556.3_Silent_p.S361S|P4HA1_ENST00000440381.1_Silent_p.S361S|P4HA1_ENST00000373008.2_Silent_p.S361S|P4HA1_ENST00000412021.2_Intron			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I						collagen fibril organization (GO:0030199)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|procollagen-proline 4-dioxygenase complex (GO:0016222)	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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTAGCTCGGCTCAGCTACA	0.418																																					Colon(147;367 2405 2662 52127)	dbGAP											0													204.0	214.0	211.0					10																	74803710		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	1.14.11.2		8546	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(I)"""	176710	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I"""	P4HA		2556027	Standard	NM_001017962		Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000307116.2:c.1148+1028C>T	10.37:g.74803710G>A			C9JL12|Q15082|Q15083|Q5VSQ5	Silent	SNP	pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S361	ENST00000307116.2	37	c.1083		10																																																																																			P4HA1	-	smart_Pro_4_hyd_alph	ENSG00000122884		0.418	P4HA1-001	KNOWN	basic	protein_coding	P4HA1	HGNC	protein_coding	OTTHUMT00000048601.1	265	0.00	0	G	NM_000917		74803710	74803710	-1	no_errors	ENST00000263556	ensembl	human	known	69_37n	silent	233	15.27	42	SNP	1.000	A
PADI3	51702	genome.wustl.edu	37	1	17607238	17607238	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:17607238C>T	ENST00000375460.3	+	15	1748	c.1708C>T	c.(1708-1710)Cca>Tca	p.P570S	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	570					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CATTGACATCCCACAGCTCTT	0.577																																						dbGAP											0													120.0	118.0	118.0					1																	17607238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1708C>T	1.37:g.17607238C>T	ENSP00000364609:p.Pro570Ser		Q58EY7|Q70SX5	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.P570S	ENST00000375460.3	37	c.1708	CCDS179.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115294	0.77323	.	.	ENSG00000142619	ENST00000375460	T	0.58652	0.32	4.57	4.57	0.56435	Protein-arginine deiminase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81931	0.4927	M	0.93462	3.42	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.87372	0.2351	10	0.87932	D	0	-26.9898	16.3029	0.82831	0.0:1.0:0.0:0.0	.	570	Q9ULW8	PADI3_HUMAN	S	570	ENSP00000364609:P570S	ENSP00000364609:P570S	P	+	1	0	PADI3	17479825	1.000000	0.71417	0.995000	0.50966	0.536000	0.34869	7.357000	0.79456	2.272000	0.75746	0.467000	0.42956	CCA	PADI3	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000142619		0.577	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	HGNC	protein_coding	OTTHUMT00000006805.1	107	0.00	0	C			17607238	17607238	+1	no_errors	ENST00000375460	ensembl	human	known	69_37n	missense	99	44.13	79	SNP	1.000	T
PANK4	55229	genome.wustl.edu	37	1	2452260	2452260	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:2452260G>A	ENST00000378466.3	-	4	520	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	PANK4_ENST00000435556.3_Nonsense_Mutation_p.Q131*|PANK4_ENST00000491212.1_5'Flank	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	170					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GAATCCTTCTGGTACACGAAG	0.532																																						dbGAP											0													133.0	133.0	133.0					1																	2452260		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.508C>T	1.37:g.2452260G>A	ENSP00000367727:p.Gln170*		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Nonsense_Mutation	SNP	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.Q170*	ENST00000378466.3	37	c.508	CCDS42.1	1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916153	0.73098	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	.	.	.	4.91	4.91	0.64330	.	0.338708	0.29431	N	0.012171	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-34.2116	12.9122	0.58187	0.0:0.1633:0.8367:0.0	.	.	.	.	X	170;131	.	ENSP00000367727:Q170X	Q	-	1	0	PANK4	2442120	1.000000	0.71417	0.878000	0.34440	0.724000	0.41520	5.195000	0.65131	2.263000	0.75096	0.563000	0.77884	CAG	PANK4	-	pfam_Type_II_PanK,pirsf_PanK_long,tigrfam_Type_II_PanK	ENSG00000157881		0.532	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	14	0.00	0	G			2452260	2452260	-1	no_errors	ENST00000378466	ensembl	human	known	69_37n	nonsense	12	50.00	12	SNP	1.000	A
PANK4	55229	genome.wustl.edu	37	1	2452612	2452612	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:2452612G>A	ENST00000378466.3	-	3	362	c.350C>T	c.(349-351)aCc>aTc	p.T117I	PANK4_ENST00000435556.3_Missense_Mutation_p.T117I|PANK4_ENST00000491212.1_5'Flank	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	117					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GATGACCTTGGTCTCTGTGTT	0.522																																						dbGAP											0													124.0	123.0	123.0					1																	2452612		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.350C>T	1.37:g.2452612G>A	ENSP00000367727:p.Thr117Ile		B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.T117I	ENST00000378466.3	37	c.350	CCDS42.1	1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.182933	0.57800	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	D;D	0.99545	-6.13;-3.9	4.87	4.87	0.63330	.	0.137547	0.48286	D	0.000186	D	0.98375	0.9460	N	0.16862	0.45	0.80722	D	1	B;P	0.47034	0.238;0.889	B;P	0.47915	0.082;0.561	D	0.99474	1.0946	10	0.37606	T	0.19	-42.4257	16.9923	0.86357	0.0:0.0:1.0:0.0	.	117;117	E9PHT6;Q9NVE7	.;PANK4_HUMAN	I	117	ENSP00000367727:T117I;ENSP00000421433:T117I	ENSP00000367727:T117I	T	-	2	0	PANK4	2442472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.018000	0.93657	2.248000	0.74166	0.563000	0.77884	ACC	PANK4	-	pfam_Type_II_PanK,pirsf_PanK_long,tigrfam_Type_II_PanK	ENSG00000157881		0.522	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	21	0.00	0	G			2452612	2452612	-1	no_errors	ENST00000378466	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	1.000	A
PAFAH2	5051	genome.wustl.edu	37	1	26310508	26310508	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:26310508G>A	ENST00000374282.3	-	6	660	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	PAFAH2_ENST00000374284.1_Silent_p.L161L|PAFAH2_ENST00000493892.1_5'UTR	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	161					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543)			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCTGCAGCGATTCATTG	0.532																																						dbGAP											0													177.0	184.0	182.0					1																	26310508		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D87845	CCDS270.1	1p34.3	2008-09-19	2002-08-29		ENSG00000158006	ENSG00000158006			8579	protein-coding gene	gene with protein product		602344	"""platelet-activating factor acetylhydrolase 2 (40kD)"""			8955149, 9494101	Standard	NM_000437		Approved	HSD-PLA2	uc001bld.4	Q99487	OTTHUMG00000007437	ENST00000374282.3:c.481C>T	1.37:g.26310508G>A			D3DPK1|O15458|Q5SY02	Silent	SNP	pfam_PAF_acetylhydro,pfam_Peptidase_S9,pirsf_Ac_Ohase_PAF	p.L161	ENST00000374282.3	37	c.481	CCDS270.1	1																																																																																			PAFAH2	-	pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF	ENSG00000158006		0.532	PAFAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH2	HGNC	protein_coding	OTTHUMT00000019544.1	211	0.00	0	G	NM_000437		26310508	26310508	-1	no_errors	ENST00000374282	ensembl	human	known	69_37n	silent	181	15.02	32	SNP	0.943	A
PAPPA	5069	genome.wustl.edu	37	9	118969820	118969820	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:118969820G>A	ENST00000328252.3	+	3	1933	c.1564G>A	c.(1564-1566)Gag>Aag	p.E522K	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	522	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAAATCCTCAGAGGAGGAGTT	0.438																																						dbGAP											0													74.0	72.0	73.0					9																	118969820		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.1564G>A	9.37:g.118969820G>A	ENSP00000330658:p.Glu522Lys		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.E522K	ENST00000328252.3	37	c.1564	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980279	0.92982	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.01854	4.6	6.17	6.17	0.99709	Metallopeptidase, catalytic domain (1);	0.044809	0.85682	D	0.000000	T	0.07098	0.0180	L	0.27053	0.805	0.80722	D	1	D;D	0.63046	0.974;0.992	P;D	0.63283	0.736;0.913	T	0.47114	-0.9142	10	0.40728	T	0.16	-25.4995	20.8794	0.99867	0.0:0.0:1.0:0.0	.	64;522	E7EMD3;Q13219	.;PAPP1_HUMAN	K	522;64	ENSP00000330658:E522K	ENSP00000330658:E522K	E	+	1	0	PAPPA	118009641	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.624000	0.83124	2.941000	0.99782	0.655000	0.94253	GAG	PAPPA	-	NULL	ENSG00000182752		0.438	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	HGNC	protein_coding	OTTHUMT00000055546.1	215	0.00	0	G	NM_002581		118969820	118969820	+1	no_errors	ENST00000328252	ensembl	human	known	69_37n	missense	201	24.72	66	SNP	1.000	A
PAQR8	85315	genome.wustl.edu	37	6	52268732	52268733	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:52268732_52268733insTA	ENST00000442253.2	+	2	895_896	c.721_722insTA	c.(721-723)cagfs	p.Q241fs	PAQR8_ENST00000360726.3_Frame_Shift_Ins_p.Q241fs	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	241					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|response to steroid hormone (GO:0048545)|steroid hormone mediated signaling pathway (GO:0043401)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGCTGGCTGCCAGGAGCAAGCA	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF347029	CCDS4941.1	6p12	2012-08-10	2005-05-20	2005-05-20	ENSG00000170915	ENSG00000170915			15708	protein-coding gene	gene with protein product		607780	"""chromosome 6 open reading frame 33"""	C6orf33		11676489, 12574519	Standard	NM_133367		Approved	LMPB1, MPRB	uc003pao.4	Q8TEZ7	OTTHUMG00000014846	Exception_encountered	6.37:g.52268732_52268733insTA	ENSP00000406197:p.Gln241fs		B2RCF6|Q86WL0|Q8N6D3|Q9HD02	Frame_Shift_Ins	INS	pfam_HlyIII-related,superfamily_C-type_lectin_fold	p.Q241fs	ENST00000442253.2	37	c.721_722	CCDS4941.1	6																																																																																			PAQR8	-	pfam_HlyIII-related	ENSG00000170915		0.574	PAQR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAQR8	HGNC	protein_coding	OTTHUMT00000040903.2	111	0.00	0	-	NM_133367		52268732	52268733	+1	no_errors	ENST00000360726	ensembl	human	known	69_37n	frame_shift_ins	102	12.07	14	INS	1.000:1.000	TA
PARP1	142	genome.wustl.edu	37	1	226570790	226570790	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:226570790G>A	ENST00000366794.5	-	8	1249	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	369					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)		GGAGGGCGGAGGCGTGGCCGC	0.532								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														dbGAP											0													75.0	97.0	89.0					1																	226570790		2203	4300	6503	-	-	-	SO:0001583	missense	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.1106C>T	1.37:g.226570790G>A	ENSP00000355759:p.Pro369Leu		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.P369L	ENST00000366794.5	37	c.1106	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011598	0.35511	.	.	ENSG00000143799	ENST00000366794	T	0.09445	2.98	5.26	3.36	0.38483	.	0.332353	0.36444	N	0.002588	T	0.05868	0.0153	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34900	-0.9810	10	0.30078	T	0.28	-8.9593	12.0232	0.53354	0.1304:0.0:0.8696:0.0	.	369	P09874	PARP1_HUMAN	L	369	ENSP00000355759:P369L	ENSP00000355759:P369L	P	-	2	0	PARP1	224637413	0.942000	0.31987	0.113000	0.21522	0.009000	0.06853	1.202000	0.32271	0.569000	0.29329	0.555000	0.69702	CCT	PARP1	-	pirsf_NAD_ADPRT	ENSG00000143799		0.532	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	119	0.00	0	G	NM_001618		226570790	226570790	-1	no_errors	ENST00000366794	ensembl	human	known	69_37n	missense	149	17.22	31	SNP	0.807	A
PARP14	54625	genome.wustl.edu	37	3	122447250	122447250	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:122447250G>A	ENST00000474629.2	+	17	5478	c.5212G>A	c.(5212-5214)Gtg>Atg	p.V1738M		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1738	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				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)		GAGAAAGCATGTGTATTATGT	0.408																																						dbGAP											0													134.0	131.0	132.0					3																	122447250		2038	4228	6266	-	-	-	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.5212G>A	3.37:g.122447250G>A	ENSP00000418194:p.Val1738Met		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.V1738M	ENST00000474629.2	37	c.5212	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	4.765	0.142166	0.09083	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.10192	2.9	6.01	3.6	0.41247	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.062125	0.64402	N	0.000004	T	0.01661	0.0053	N	0.00123	-2.06	0.28919	N	0.892267	B	0.06786	0.001	B	0.04013	0.001	T	0.40739	-0.9547	10	0.02654	T	1	.	7.17	0.25712	0.7978:0.0:0.0714:0.1308	.	1738	Q460N5	PAR14_HUMAN	M	1738;1657;734	ENSP00000418194:V1738M	ENSP00000381224:V734M	V	+	1	0	PARP14	123929940	0.993000	0.37304	0.662000	0.29724	0.968000	0.65278	3.198000	0.51035	0.498000	0.27948	-0.238000	0.12139	GTG	PARP14	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000173193		0.408	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	190	0.52	1	G	NM_017554		122447250	122447250	+1	no_errors	ENST00000474629	ensembl	human	known	69_37n	missense	285	12.84	42	SNP	0.994	A
PCDH7	5099	genome.wustl.edu	37	4	30724370	30724370	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:30724370C>T	ENST00000361762.2	+	1	2334	c.1326C>T	c.(1324-1326)atC>atT	p.I442I	PCDH7_ENST00000543491.1_Silent_p.I442I	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	442	Cadherin 4. {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						ACACCCCCATCGCTCTGGTGC	0.647																																						dbGAP											0													49.0	41.0	44.0					4																	30724370		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.1326C>T	4.37:g.30724370C>T			O60246|O60247|Q4W5C4	Missense_Mutation	SNP	pfam_Protocadherin,pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R132C	ENST00000361762.2	37	c.394	CCDS33971.1	4	.	.	.	.	.	.	.	.	.	.	C	5.453	0.268672	0.10349	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.48	-4.64	0.03349	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38887	-0.9640	4	.	.	.	.	0.9467	0.01367	0.3471:0.122:0.1477:0.3833	.	.	.	.	C	132	.	.	R	+	1	0	PCDH7	30333468	0.000000	0.05858	0.976000	0.42696	0.975000	0.68041	-4.003000	0.00316	-0.568000	0.06038	-0.824000	0.03097	CGC	PCDH7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000169851		0.647	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH7	HGNC	protein_coding	OTTHUMT00000360366.1	23	0.00	0	C	NM_032457, NM_002589		30724370	30724370	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000511884	ensembl	human	putative	69_37n	missense	11	21.43	3	SNP	0.205	T
PCDHA1	56147	genome.wustl.edu	37	5	140166672	140166672	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:140166672C>T	ENST00000504120.2	+	1	797	c.797C>T	c.(796-798)gCc>gTc	p.A266V	PCDHA1_ENST00000394633.3_Missense_Mutation_p.A266V|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A266V	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	266	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATTAAATGCCTCTGATGCT	0.423																																						dbGAP											0													145.0	138.0	140.0					5																	140166672		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.797C>T	5.37:g.140166672C>T	ENSP00000420840:p.Ala266Val		O75288|Q9NRT7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A266V	ENST00000504120.2	37	c.797	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	c	20.5	4.007249	0.75046	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.59364	0.27;0.27;0.27	4.19	3.32	0.38043	Cadherin (5);Cadherin-like (1);	0.163684	0.28327	N	0.015745	T	0.79816	0.4511	M	0.92219	3.285	0.41894	D	0.990382	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.993	D	0.83810	0.0241	10	0.87932	D	0	.	12.1189	0.53880	0.0:0.9146:0.0:0.0854	.	266;266;266	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	V	266	ENSP00000420840:A266V;ENSP00000378129:A266V;ENSP00000367373:A266V	ENSP00000367373:A266V	A	+	2	0	PCDHA1	140146856	1.000000	0.71417	0.605000	0.28930	0.898000	0.52572	4.864000	0.62990	0.893000	0.36288	0.650000	0.86243	GCC	PCDHA1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000204970		0.423	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	138	0.00	0	C	NM_018900		140166672	140166672	+1	no_errors	ENST00000504120	ensembl	human	known	69_37n	missense	141	13.50	22	SNP	1.000	T
PCDHA10	56139	genome.wustl.edu	37	5	140237392	140237392	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:140237392G>A	ENST00000307360.5	+	1	1759	c.1759G>A	c.(1759-1761)Ggt>Agt	p.G587S	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	587	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTTGCGGGTCACGTGGT	0.667																																						dbGAP											0													94.0	89.0	91.0					5																	140237392		1322	2291	3613	-	-	-	SO:0001583	missense	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1759G>A	5.37:g.140237392G>A	ENSP00000304234:p.Gly587Ser		A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G587S	ENST00000307360.5	37	c.1759	CCDS54921.1	5	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670713	0.47781	.	.	ENSG00000250120	ENST00000307360	T	0.54675	0.56	3.68	3.68	0.42216	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.79511	0.4458	H	0.95504	3.68	0.35532	D	0.802319	D;D	0.63046	0.992;0.989	D;P	0.66847	0.947;0.907	D	0.89833	0.3997	9	0.87932	D	0	.	15.9591	0.79914	0.0:0.0:1.0:0.0	.	587;587	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	S	587	ENSP00000304234:G587S	ENSP00000304234:G587S	G	+	1	0	PCDHA10	140217576	1.000000	0.71417	0.896000	0.35187	0.005000	0.04900	8.341000	0.90046	2.041000	0.60428	0.491000	0.48974	GGT	PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000250120		0.667	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	23	0.00	0	G	NM_018901		140237392	140237392	+1	no_errors	ENST00000307360	ensembl	human	known	69_37n	missense	33	42.11	24	SNP	0.995	A
PCDHA11	56138	genome.wustl.edu	37	5	140248985	140248985	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:140248985C>T	ENST00000398640.2	+	1	297	c.297C>T	c.(295-297)agC>agT	p.S99S	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGGCAGAGCGCGGAGTGCA	0.562																																						dbGAP											0													144.0	160.0	154.0					5																	140248985		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.297C>T	5.37:g.140248985C>T			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S99	ENST00000398640.2	37	c.297	CCDS47284.1	5																																																																																			PCDHA11	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.562	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	110	0.00	0	C	NM_018902		140248985	140248985	+1	no_errors	ENST00000398640	ensembl	human	known	69_37n	silent	161	14.81	28	SNP	0.003	T
PCDHA11	56138	genome.wustl.edu	37	5	140249145	140249145	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:140249145C>T	ENST00000398640.2	+	1	457	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	153					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCGTTTTCCACTAGAGGG	0.448																																						dbGAP											0													111.0	127.0	121.0					5																	140249145		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.457C>T	5.37:g.140249145C>T	ENSP00000381636:p.Pro153Ser		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P153S	ENST00000398640.2	37	c.457	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709879	0.68730	.	.	ENSG00000249158	ENST00000398640	T	0.50001	0.76	5.86	5.86	0.93980	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.48259	0.1490	M	0.67397	2.05	0.36638	D	0.876693	P;P	0.39601	0.68;0.527	B;B	0.37989	0.249;0.262	T	0.59080	-0.7521	9	0.48119	T	0.1	.	14.3468	0.66672	0.0:0.9296:0.0:0.0704	.	153;153	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	S	153	ENSP00000381636:P153S	ENSP00000381636:P153S	P	+	1	0	PCDHA11	140229329	0.607000	0.26958	1.000000	0.80357	0.987000	0.75469	2.059000	0.41384	2.777000	0.95525	0.655000	0.94253	CCA	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like	ENSG00000249158		0.448	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	112	0.00	0	C	NM_018902		140249145	140249145	+1	no_errors	ENST00000398640	ensembl	human	known	69_37n	missense	138	16.36	27	SNP	1.000	T
PCDHGA5	56110	genome.wustl.edu	37	5	140744614	140744614	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:140744614G>A	ENST00000518069.1	+	1	717	c.717G>A	c.(715-717)gcG>gcA	p.A239A	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_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	239	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)			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)			ACGACAATGCGCCCCTGTTCA	0.587																																						dbGAP											0													82.0	83.0	82.0					5																	140744614		2084	4211	6295	-	-	-	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.717G>A	5.37:g.140744614G>A			Q2M3F5|Q9Y5D2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A239	ENST00000518069.1	37	c.717	CCDS54925.1	5																																																																																			PCDHGA5	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253485		0.587	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	90	0.00	0	G	NM_018918		140744614	140744614	+1	no_errors	ENST00000518069	ensembl	human	known	69_37n	silent	108	21.17	29	SNP	0.000	A
PCK2	5106	genome.wustl.edu	37	14	24573119	24573119	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:24573119C>T	ENST00000216780.4	+	10	2137	c.1869C>T	c.(1867-1869)ccC>ccT	p.P623P	PCK2_ENST00000545054.2_Silent_p.P489P|PCK2_ENST00000559250.1_3'UTR|PCK2_ENST00000558096.1_Silent_p.P457P|NRL_ENST00000561028.1_Intron|PCK2_ENST00000561286.1_Silent_p.P489P	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	623					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		AGGATCTGCCCAAAGAGGTGT	0.552																																						dbGAP											0													96.0	92.0	94.0					14																	24573119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1869C>T	14.37:g.24573119C>T			O43253|Q86U01|Q9BV62	Silent	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.P623	ENST00000216780.4	37	c.1869	CCDS9609.1	14																																																																																			PCK2	-	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP	ENSG00000100889		0.552	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3	71	0.00	0	C	NM_001018073		24573119	24573119	+1	no_errors	ENST00000216780	ensembl	human	known	69_37n	silent	73	31.13	33	SNP	0.935	T
PDE8A	5151	genome.wustl.edu	37	15	85669545	85669545	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:85669545C>T	ENST00000310298.4	+	21	2445	c.2193C>T	c.(2191-2193)tgC>tgT	p.C731C	PDE8A_ENST00000339708.5_Silent_p.C685C|PDE8A_ENST00000394553.1_Silent_p.C731C|PDE8A_ENST00000557957.1_Silent_p.C659C			O60658	PDE8A_HUMAN	phosphodiesterase 8A	731	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	CCAATCCCTGCCGACCCCTGC	0.448																																						dbGAP											0													105.0	98.0	101.0					15																	85669545		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2193C>T	15.37:g.85669545C>T			B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.C731	ENST00000310298.4	37	c.2193	CCDS10336.1	15																																																																																			PDE8A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000073417		0.448	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8A	HGNC	protein_coding	OTTHUMT00000309018.1	173	0.00	0	C	NM_002605		85669545	85669545	+1	no_errors	ENST00000310298	ensembl	human	known	69_37n	silent	115	20.14	29	SNP	1.000	T
PDILT	204474	genome.wustl.edu	37	16	20396157	20396157	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:20396157C>T	ENST00000302451.4	-	3	467	c.219G>A	c.(217-219)aaG>aaA	p.K73K	RP11-429K17.1_ENST00000577173.1_RNA	NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	73					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TCCTGGATTGCTTTGAGGATG	0.483																																						dbGAP											0													224.0	220.0	221.0					16																	20396157		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.219G>A	16.37:g.20396157C>T			Q8IVQ5	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.K73	ENST00000302451.4	37	c.219	CCDS10584.1	16																																																																																			PDILT	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000169340		0.483	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDILT	HGNC	protein_coding	OTTHUMT00000254332.1	196	0.00	0	C	NM_174924		20396157	20396157	-1	no_errors	ENST00000302451	ensembl	human	known	69_37n	silent	124	10.14	14	SNP	0.142	T
PDLIM7	9260	genome.wustl.edu	37	5	176923433	176923433	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:176923433G>A	ENST00000355841.2	-	2	147	c.81C>T	c.(79-81)ccC>ccT	p.P27P	RP11-1334A24.6_ENST00000506025.1_RNA|PDLIM7_ENST00000393551.1_Silent_p.P27P|PDLIM7_ENST00000356618.4_Silent_p.P27P|PDLIM7_ENST00000359895.2_Silent_p.P27P|PDLIM7_ENST00000355572.2_Silent_p.P27P	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	27	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)			AAATGGAGAGGGGCACATTGA	0.617																																						dbGAP											0													33.0	36.0	35.0					5																	176923433		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.81C>T	5.37:g.176923433G>A			Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Silent	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.P27	ENST00000355841.2	37	c.81	CCDS4422.1	5																																																																																			PDLIM7	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000196923		0.617	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	21	0.00	0	G	NM_005451		176923433	176923433	-1	no_errors	ENST00000355841	ensembl	human	known	69_37n	silent	5	37.50	3	SNP	1.000	A
PDP1	54704	genome.wustl.edu	37	8	94935128	94935128	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:94935128G>A	ENST00000297598.4	+	2	1110	c.841G>A	c.(841-843)Ggt>Agt	p.G281S	PDP1_ENST00000396200.3_Missense_Mutation_p.G306S|PDP1_ENST00000517764.1_Missense_Mutation_p.G281S|PDP1_ENST00000520728.1_Missense_Mutation_p.G281S	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	281					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)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCATGTGGATGGTGTTGACCT	0.532																																						dbGAP											0													80.0	79.0	79.0					8																	94935128		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.841G>A	8.37:g.94935128G>A	ENSP00000297598:p.Gly281Ser		B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.G306S	ENST00000297598.4	37	c.916	CCDS6259.1	8	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192273	0.78902	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	5.5	5.5	0.81552	Protein phosphatase 2C-like (5);	0.106321	0.64402	D	0.000004	T	0.18173	0.0436	L	0.41573	1.285	0.80722	D	1	P;P	0.51057	0.767;0.941	P;P	0.51657	0.479;0.676	T	0.01715	-1.1289	10	0.20519	T	0.43	-16.3436	19.7663	0.96342	0.0:0.0:1.0:0.0	.	332;281	B4DYX8;Q9P0J1	.;PDP1_HUMAN	S	281;281;306;281	ENSP00000297598:G281S;ENSP00000428317:G281S;ENSP00000379503:G306S;ENSP00000430380:G281S	ENSP00000297598:G281S	G	+	1	0	PDP1	95004304	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.692000	0.98682	2.741000	0.93983	0.650000	0.86243	GGT	PDP1	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	ENSG00000164951		0.532	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PDP1	HGNC	protein_coding	OTTHUMT00000378415.2	73	0.00	0	G	NM_018444		94935128	94935128	+1	no_errors	ENST00000396200	ensembl	human	known	69_37n	missense	120	13.67	19	SNP	1.000	A
PDPK1	5170	genome.wustl.edu	37	16	2645822	2645822	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:2645822C>T	ENST00000342085.4	+	12	1521	c.1372C>T	c.(1372-1374)Cta>Tta	p.L458L	PDPK1_ENST00000354836.5_Silent_p.L434L|PDPK1_ENST00000268673.7_Silent_p.L331L|PDPK1_ENST00000441549.3_Intron|CTD-3126B10.1_ENST00000562166.1_RNA|PDPK1_ENST00000389224.3_Silent_p.L431L	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	458					actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TAATTTAATACTAAAGATGGG	0.512																																						dbGAP											0													111.0	122.0	118.0					16																	2645822		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1372C>T	16.37:g.2645822C>T			H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	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,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L458	ENST00000342085.4	37	c.1372	CCDS10472.1	16																																																																																			PDPK1	-	NULL	ENSG00000140992		0.512	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPK1	HGNC	protein_coding	OTTHUMT00000250831.3	79	0.00	0	C			2645822	2645822	+1	no_errors	ENST00000342085	ensembl	human	known	69_37n	silent	57	22.97	17	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	32089409	32089409	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:32089409G>A	ENST00000438447.1	+	20	6243	c.5855G>A	c.(5854-5856)aGg>aAg	p.R1952K	PDZD2_ENST00000282493.3_Missense_Mutation_p.R1952K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1952					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						GCTGCCCCCAGGTCCCCCCAG	0.587																																						dbGAP											0													77.0	85.0	83.0					5																	32089409		2203	4300	6503	-	-	-	SO:0001583	missense	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.5855G>A	5.37:g.32089409G>A	ENSP00000402033:p.Arg1952Lys		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1952K	ENST00000438447.1	37	c.5855	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	2.875	-0.233042	0.05983	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.04156	3.69;3.69	4.85	-3.12	0.05282	.	1.094290	0.07039	N	0.829816	T	0.02047	0.0064	N	0.11064	0.09	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45600	-0.9250	10	0.02654	T	1	.	5.5229	0.16943	0.2802:0.4674:0.2524:0.0	.	1952	O15018	PDZD2_HUMAN	K	1952;1753;1952	ENSP00000402033:R1952K;ENSP00000282493:R1952K	ENSP00000282493:R1952K	R	+	2	0	PDZD2	32125166	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.090000	0.11163	-0.557000	0.06126	0.650000	0.86243	AGG	PDZD2	-	NULL	ENSG00000133401		0.587	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	108	0.00	0	G			32089409	32089409	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	missense	74	17.78	16	SNP	0.000	A
PER2	8864	genome.wustl.edu	37	2	239170881	239170881	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:239170881G>A	ENST00000254657.3	-	11	1537	c.1258C>T	c.(1258-1260)Cca>Tca	p.P420S	PER2_ENST00000254658.3_Missense_Mutation_p.P384L|PER2_ENST00000440245.1_Missense_Mutation_p.P420S|PER2_ENST00000355768.2_Missense_Mutation_p.P384L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	420	PAC.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CTGCTCCATGGGTTGATGAAG	0.592																																						dbGAP											0													132.0	119.0	124.0					2																	239170881		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.1258C>T	2.37:g.239170881G>A	ENSP00000254657:p.Pro420Ser		A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.P420S	ENST00000254657.3	37	c.1258	CCDS2528.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.9|24.9	4.587060|4.587060	0.86851|0.86851	.|.	.|.	ENSG00000132326|ENSG00000132326	ENST00000254658;ENST00000355768|ENST00000254657;ENST00000440245	T;T|T;T	0.49139|0.18657	0.79;0.79|2.2;2.2	4.66|4.66	4.66|4.66	0.58398|0.58398	.|PAS fold-3 (1);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.55986|0.55986	0.1955|0.1955	M|M	0.93106|0.93106	3.38|3.38	0.51767|0.51767	D|D	0.999934|0.999934	D|D;D;D	0.57257|0.89917	0.979|1.0;1.0;1.0	P|D;D;D	0.51324|0.97110	0.666|0.999;0.999;1.0	T|T	0.67917|0.67917	-0.5546|-0.5546	10|10	0.66056|0.66056	D|D	0.02|0.02	-35.4373|-35.4373	15.431|15.431	0.75099|0.75099	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	384|420;420;420	O15055-2|F5GYD5;B4DH14;O15055	.|.;.;PER2_HUMAN	L|S	384|420	ENSP00000254658:P384L;ENSP00000348013:P384L|ENSP00000254657:P420S;ENSP00000397516:P420S	ENSP00000254658:P384L|ENSP00000254657:P420S	P|P	-|-	2|1	0|0	PER2|PER2	238835620|238835620	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.981000|0.981000	0.71138|0.71138	9.507000|9.507000	0.97996|0.97996	2.301000|2.301000	0.77427|0.77427	0.555000|0.555000	0.69702|0.69702	CCC|CCA	PER2	-	pfam_PAS_fold_3,pfam_PAS_fold	ENSG00000132326		0.592	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER2	HGNC	protein_coding	OTTHUMT00000257167.1	43	0.00	0	G	NM_022817		239170881	239170881	-1	no_errors	ENST00000254657	ensembl	human	known	69_37n	missense	23	14.81	4	SNP	1.000	A
PES1	23481	genome.wustl.edu	37	22	30974947	30974948	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:30974947_30974948insT	ENST00000405677.1	-	16	2085_2086	c.1142_1143insA	c.(1141-1143)gatfs	p.D381fs	PES1_ENST00000402284.3_Frame_Shift_Ins_p.D503fs|PES1_ENST00000402281.1_Frame_Shift_Ins_p.D381fs|PES1_ENST00000335214.6_Frame_Shift_Ins_p.D515fs|PES1_ENST00000354694.7_Frame_Shift_Ins_p.D520fs	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GCCGCTGCTTATCCTCCAGCTT	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.1143dupA	22.37:g.30974948_30974948dupT	ENSP00000385654:p.Asp381fs			Frame_Shift_Ins	INS	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.D520fs	ENST00000405677.1	37	c.1560_1559		22																																																																																			PES1	-	NULL	ENSG00000100029		0.584	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321189.2	42	0.00	0	-	NM_014303		30974947	30974948	-1	no_errors	ENST00000354694	ensembl	human	known	69_37n	frame_shift_ins	33	83.58	168	INS	0.988:1.000	T
PES1	23481	genome.wustl.edu	37	22	30974949	30974949	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:30974949C>G	ENST00000405677.1	-	16	2084	c.1141G>C	c.(1141-1143)Gat>Cat	p.D381H	PES1_ENST00000402284.3_Missense_Mutation_p.D503H|PES1_ENST00000402281.1_Missense_Mutation_p.D381H|PES1_ENST00000335214.6_Missense_Mutation_p.D515H|PES1_ENST00000354694.7_Missense_Mutation_p.D520H	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CGCTGCTTATCCTCCAGCTTC	0.587																																						dbGAP											0													47.0	48.0	48.0					22																	30974949		2203	4300	6503	-	-	-	SO:0001583	missense	0			U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.1141G>C	22.37:g.30974949C>G	ENSP00000385654:p.Asp381His			Missense_Mutation	SNP	pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.D520H	ENST00000405677.1	37	c.1558		22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.57|19.57	3.851528|3.851528	0.71719|0.71719	.|.	.|.	ENSG00000100029|ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214|ENST00000441668	T;T;T;T;T|.	0.24151|.	1.88;1.88;1.88;1.88;1.87|.	4.69|4.69	3.66|3.66	0.41972|0.41972	.|.	0.171732|.	0.51477|.	D|.	0.000097|.	T|T	0.70072|0.70072	0.3182|0.3182	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	P;D;D;P|.	0.71674|.	0.93;0.998;0.958;0.93|.	P;P;P;P|.	0.57371|.	0.564;0.819;0.748;0.564|.	T|T	0.70403|0.70403	-0.4881|-0.4881	10|5	0.72032|.	D|.	0.01|.	-17.0257|-17.0257	12.854|12.854	0.57873|0.57873	0.0:0.9172:0.0:0.0828|0.0:0.9172:0.0:0.0828	.|.	520;503;515;520|.	B2RDF2;B5MCF9;O00541-2;O00541|.	.;.;.;PESC_HUMAN|.	H|A	520;381;381;503;515|125	ENSP00000346725:D520H;ENSP00000384366:D381H;ENSP00000385654:D381H;ENSP00000384252:D503H;ENSP00000334612:D515H|.	ENSP00000334612:D515H|.	D|G	-|-	1|2	0|0	PES1|PES1	29304949|29304949	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.863000|0.863000	0.49368|0.49368	2.334000|2.334000	0.43920|0.43920	2.169000|2.169000	0.68431|0.68431	0.655000|0.655000	0.94253|0.94253	GAT|GGA	PES1	-	NULL	ENSG00000100029		0.587	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	PES1	HGNC	protein_coding	OTTHUMT00000321189.2	40	0.00	0	C	NM_014303		30974949	30974949	-1	no_errors	ENST00000354694	ensembl	human	known	69_37n	missense	27	84.85	168	SNP	1.000	G
PEX16	9409	genome.wustl.edu	37	11	45937777	45937777	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:45937777C>T	ENST00000378750.5	-	3	469		c.e3+1		PEX16_ENST00000532681.1_Splice_Site|PEX16_ENST00000241041.3_Splice_Site|PEX16_ENST00000532554.1_Intron			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16						ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		AGAATTCTCACCACAGGCAAC	0.522																																						dbGAP											0													287.0	275.0	279.0					11																	45937777		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.225+1G>A	11.37:g.45937777C>T			Q9BWB9	Splice_Site	SNP	-	e3+1	ENST00000378750.5	37	c.225+1	CCDS31472.1	11	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926454	0.73327	.	.	ENSG00000121680	ENST00000241041;ENST00000378750	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6923	0.69096	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PEX16	45894353	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.230000	0.72301	2.266000	0.75297	0.561000	0.74099	.	PEX16	-	-	ENSG00000121680		0.522	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX16	HGNC	protein_coding	OTTHUMT00000392398.1	124	0.00	0	C	NM_057174	Intron	45937777	45937777	-1	no_errors	ENST00000241041	ensembl	human	known	69_37n	splice_site	89	10.10	10	SNP	1.000	T
PHF8	23133	genome.wustl.edu	37	X	54037619	54037619	+	Silent	SNP	C	C	T	rs182528647		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:54037619C>T	ENST00000357988.5	-	8	1348	c.990G>A	c.(988-990)ggG>ggA	p.G330G	PHF8_ENST00000322659.8_Silent_p.G294G|PHF8_ENST00000338946.6_Silent_p.G294G|PHF8_ENST00000338154.6_Silent_p.G294G	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	330	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCACCTGGTCCCCAAAGAACA	0.498													C|||	1	0.000264901	0.0	0.0	3775	,	,		13348	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													116.0	92.0	100.0					X																	54037619		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.990G>A	X.37:g.54037619C>T			B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G198E	ENST00000357988.5	37	c.593	CCDS55420.1	X	1|1	6.027727546714888E-4|6.027727546714888E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	10.18|10.18	1.278358|1.278358	0.23307|0.23307	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282|ENST00000443302	T|T	0.70869|0.69040	-0.52|-0.37	5.48|5.48	0.0747|0.0747	0.14396|0.14396	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.62048|0.62048	0.2396|0.2396	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57797|0.57797	-0.7749|-0.7749	7|7	0.87932|0.87932	D|D	0|0	-16.6731|-16.6731	0.8805|0.8805	0.01233|0.01233	0.176:0.3344:0.2512:0.2383|0.176:0.3344:0.2512:0.2383	.|.	.|.	.|.	.|.	E|R	198|58	ENSP00000379578:G198E|ENSP00000397129:G58R	ENSP00000379578:G198E|ENSP00000397129:G58R	G|G	-|-	2|1	0|0	PHF8|PHF8	54054344|54054344	0.005000|0.005000	0.15991|0.15991	0.997000|0.997000	0.53966|0.53966	0.996000|0.996000	0.88848|0.88848	-1.050000|-1.050000	0.03510|0.03510	-0.195000|-0.195000	0.10382|0.10382	0.415000|0.415000	0.27848|0.27848	GGG|GGA	PHF8	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000172943		0.498	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	183	0.00	0	C	NM_015107		54037619	54037619	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000396282	ensembl	human	novel	69_37n	missense	100	14.53	17	SNP	0.968	T
PGK1	5230	genome.wustl.edu	37	X	77373625	77373625	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:77373625C>T	ENST00000373316.4	+	6	766	c.599C>T	c.(598-600)gCc>gTc	p.A200V	PGK1_ENST00000537456.1_Missense_Mutation_p.A172V|PGK1_ENST00000442431.1_Intron	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	200					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)	TTTGCAAAGGCCTTGGAGAGC	0.473																																						dbGAP											0													127.0	116.0	120.0					X																	77373625		2203	4296	6499	-	-	-	SO:0001583	missense	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.599C>T	X.37:g.77373625C>T	ENSP00000362413:p.Ala200Val		A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.A200V	ENST00000373316.4	37	c.599	CCDS14438.1	X	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231346	0.39399	.	.	ENSG00000102144	ENST00000373316;ENST00000450919;ENST00000537456	D;D	0.92149	-2.98;-2.98	4.71	4.71	0.59529	Phosphoglycerate kinase, C-terminal (1);	0.099127	0.64402	D	0.000002	D	0.88720	0.6513	L	0.37750	1.13	0.58432	D	0.999999	B	0.33494	0.414	B	0.35931	0.214	D	0.87970	0.2736	10	0.41790	T	0.15	-29.1705	15.988	0.80176	0.0:1.0:0.0:0.0	.	200	P00558	PGK1_HUMAN	V	200;25;172	ENSP00000362413:A200V;ENSP00000444708:A172V	ENSP00000362413:A200V	A	+	2	0	PGK1	77260281	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	7.741000	0.84997	2.055000	0.61198	0.422000	0.28245	GCC	PGK1	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	ENSG00000102144		0.473	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK1	HGNC	protein_coding	OTTHUMT00000057310.1	190	0.00	0	C			77373625	77373625	+1	no_errors	ENST00000373316	ensembl	human	known	69_37n	missense	166	35.91	93	SNP	1.000	T
PHLDB1	23187	genome.wustl.edu	37	11	118498536	118498536	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:118498536G>A	ENST00000361417.2	+	7	1408	c.997G>A	c.(997-999)Gac>Aac	p.D333N	PHLDB1_ENST00000356063.5_Missense_Mutation_p.D333N	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	333										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTGCTGACAGACAGCCCTGC	0.672																																						dbGAP											0													18.0	21.0	20.0					11																	118498536		2196	4292	6488	-	-	-	SO:0001583	missense	0				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.997G>A	11.37:g.118498536G>A	ENSP00000354498:p.Asp333Asn		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D333N	ENST00000361417.2	37	c.997	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751012	0.69533	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000543207;ENST00000356063	T;T	0.31769	1.48;1.48	5.13	5.13	0.70059	.	0.530450	0.21494	N	0.073640	T	0.27489	0.0675	L	0.40543	1.245	0.80722	D	1	B;P;B;P	0.48089	0.0;0.744;0.003;0.905	B;B;B;B	0.42188	0.001;0.15;0.002;0.379	T	0.01528	-1.1332	10	0.30854	T	0.27	-30.9842	13.9553	0.64144	0.0:0.0:1.0:0.0	.	332;333;333;333	B4DIX4;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	N	333;92;332;333	ENSP00000354498:D333N;ENSP00000348359:D333N	ENSP00000348359:D333N	D	+	1	0	PHLDB1	118003746	.	.	1.000000	0.80357	0.987000	0.75469	.	.	2.667000	0.90743	0.563000	0.77884	GAC	PHLDB1	-	NULL	ENSG00000019144		0.672	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1	32	0.00	0	G	NM_015157		118498536	118498536	+1	no_errors	ENST00000361417	ensembl	human	known	69_37n	missense	99	26.67	36	SNP	1.000	A
PHLDB1	23187	genome.wustl.edu	37	11	118498843	118498843	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:118498843C>T	ENST00000361417.2	+	7	1715	c.1304C>T	c.(1303-1305)aCc>aTc	p.T435I	PHLDB1_ENST00000356063.5_Missense_Mutation_p.T435I	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	435										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGGTTAGCCACCCGTACCCTG	0.642																																						dbGAP											0													69.0	79.0	76.0					11																	118498843		2200	4295	6495	-	-	-	SO:0001583	missense	0				CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.1304C>T	11.37:g.118498843C>T	ENSP00000354498:p.Thr435Ile		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T435I	ENST00000361417.2	37	c.1304	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	C	9.927	1.213758	0.22289	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000356063	T;T	0.31510	1.5;1.49	4.79	4.79	0.61399	.	0.554027	0.19607	N	0.110233	T	0.22437	0.0541	L	0.36672	1.1	0.34447	D	0.700248	B;B;B	0.29037	0.045;0.231;0.037	B;B;B	0.24394	0.017;0.053;0.021	T	0.22977	-1.0201	10	0.33940	T	0.23	-9.6725	9.8038	0.40781	0.1538:0.697:0.1492:0.0	.	435;435;435	Q86UU1-3;Q86UU1-2;Q86UU1	.;.;PHLB1_HUMAN	I	435;194;435	ENSP00000354498:T435I;ENSP00000348359:T435I	ENSP00000348359:T435I	T	+	2	0	PHLDB1	118004053	0.041000	0.20044	0.603000	0.28903	0.972000	0.66771	3.120000	0.50430	2.507000	0.84556	0.462000	0.41574	ACC	PHLDB1	-	NULL	ENSG00000019144		0.642	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	HGNC	protein_coding	OTTHUMT00000389279.1	66	0.00	0	C	NM_015157		118498843	118498843	+1	no_errors	ENST00000361417	ensembl	human	known	69_37n	missense	137	27.60	53	SNP	0.018	T
PI4KAP1	728233	genome.wustl.edu	37	22	20386697	20386697	+	RNA	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:20386697C>T	ENST00000430523.3	-	0	1815					NR_003563.1		Q8N8J0	PI4P1_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 1						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)												CAAAGAGCTGCCTGTGACTGG	0.577																																						dbGAP											0																																										-	-	-			0					22q11.21	2007-08-14	2007-08-14			ENSG00000274602			33576	pseudogene	pseudogene							Standard	NR_003563		Approved		uc010gsg.2	Q8N8J0			22.37:g.20386697C>T				RNA	SNP	-	NULL	ENST00000430523.3	37	NULL		22																																																																																			PI4KAP1	-	-	ENSG00000215513		0.577	PI4KAP1-005	KNOWN	basic	processed_transcript	PI4KAP1	HGNC	pseudogene	OTTHUMT00000319534.5	24	0.00	0	C			20386697	20386697	-1	no_errors	ENST00000430523	ensembl	human	known	69_37n	rna	13	31.58	6	SNP	0.000	T
PIEZO2	63895	genome.wustl.edu	37	18	10680258	10680258	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr18:10680258C>T	ENST00000503781.3	-	48	7550	c.7551G>A	c.(7549-7551)atG>atA	p.M2517I	PIEZO2_ENST00000581680.1_Intron|PIEZO2_ENST00000285141.4_Missense_Mutation_p.M309I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.M474I|PIEZO2_ENST00000302079.6_Missense_Mutation_p.M2454I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.M2542I	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2517					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GTTCGTGTATCATTTTCTGCT	0.378																																						dbGAP											0													187.0	184.0	185.0					18																	10680258		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.7551G>A	18.37:g.10680258C>T	ENSP00000421377:p.Met2517Ile		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	pfam_DUF3595	p.M474I	ENST00000503781.3	37	c.1422		18	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969165	0.92855	.	.	ENSG00000154864	ENST00000503781;ENST00000302079;ENST00000538948;ENST00000285141	T;T	0.71222	-0.55;-0.55	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.77903	0.4200	M	0.76170	2.325	0.47905	D	0.999548	P	0.44309	0.832	P	0.46510	0.519	T	0.77728	-0.2479	10	0.44086	T	0.13	.	19.9631	0.97258	0.0:1.0:0.0:0.0	.	411	D6RFZ0	.	I	411;2517;474;309	ENSP00000443129:M474I;ENSP00000285141:M309I	ENSP00000285141:M309I	M	-	3	0	FAM38B	10670258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.543000	0.60684	2.723000	0.93209	0.650000	0.86243	ATG	PIEZO2	-	pfam_DUF3595	ENSG00000154864		0.378	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	198	0.00	0	C	NM_022068		10680258	10680258	-1	no_errors	ENST00000538948	ensembl	human	known	69_37n	missense	122	16.44	24	SNP	1.000	T
PIGG	54872	genome.wustl.edu	37	4	517551	517551	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:517551C>T	ENST00000453061.2	+	9	2024	c.1918C>T	c.(1918-1920)Ccc>Tcc	p.P640S	PIGG_ENST00000296306.7_3'UTR|PIGG_ENST00000383028.4_Missense_Mutation_p.P507S|PIGG_ENST00000310340.5_Missense_Mutation_p.P632S|PIGG_ENST00000504346.1_Missense_Mutation_p.P551S	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	640					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						CCACGGAAGCCCCTCTACCTC	0.642																																						dbGAP											0													50.0	49.0	50.0					4																	517551		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.1918C>T	4.37:g.517551C>T	ENSP00000415203:p.Pro640Ser		B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.P640S	ENST00000453061.2	37	c.1918	CCDS46992.1	4	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212661	0.22289	.	.	ENSG00000174227	ENST00000310340;ENST00000453061;ENST00000504346;ENST00000383028	T;T;T;T	0.08807	3.37;3.37;3.05;3.05	5.55	-2.14	0.07123	.	1.316360	0.04683	N	0.412664	T	0.04634	0.0126	N	0.17474	0.49	0.09310	N	1	B;B;B	0.19583	0.037;0.002;0.007	B;B;B	0.15484	0.013;0.003;0.007	T	0.42068	-0.9473	10	0.19590	T	0.45	.	3.8999	0.09155	0.1059:0.1886:0.4779:0.2276	.	507;640;632	Q5H8A4-3;Q5H8A4;Q5H8A4-2	.;PIGG_HUMAN;.	S	632;640;551;507	ENSP00000311750:P632S;ENSP00000415203:P640S;ENSP00000424800:P551S;ENSP00000372494:P507S	ENSP00000311750:P632S	P	+	1	0	PIGG	507551	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.182000	0.09726	-0.126000	0.11682	-0.150000	0.13652	CCC	PIGG	-	NULL	ENSG00000174227		0.642	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	HGNC	protein_coding	OTTHUMT00000357494.1	50	0.00	0	C	NM_017733		517551	517551	+1	no_errors	ENST00000453061	ensembl	human	known	69_37n	missense	63	29.21	26	SNP	0.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	106	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	56	30.00	24	SNP	1.000	A
PITPNA	5306	genome.wustl.edu	37	17	1444910	1444910	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:1444910G>A	ENST00000313486.7	-	6	577	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	PITPNA_ENST00000539476.1_Silent_p.L108L	NM_006224.3	NP_006215.1	Q00169	PIPNA_HUMAN	phosphatidylinositol transfer protein, alpha	108					axon guidance (GO:0007411)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)|phosphatidylcholine transporter activity (GO:0008525)|phosphatidylinositol transporter activity (GO:0008526)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		ATTTTAATCAGAAAGTCTTCT	0.433																																						dbGAP											0													89.0	87.0	88.0					17																	1444910		1850	4098	5948	-	-	-	SO:0001819	synonymous_variant	0			M73704	CCDS45563.1	17p13.3	2012-06-29	2003-05-09	2004-09-03	ENSG00000174238	ENSG00000174238			9001	protein-coding gene	gene with protein product		600174	"""phosphotidylinositol transfer protein"""	PITPN		8255295	Standard	NM_006224		Approved	VIB1A	uc021tnf.1	Q00169	OTTHUMG00000177779	ENST00000313486.7:c.322C>T	17.37:g.1444910G>A				Missense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.S65F	ENST00000313486.7	37	c.194	CCDS45563.1	17																																																																																			PITPNA	-	pfam_PI_transfer	ENSG00000174238		0.433	PITPNA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNA	HGNC	protein_coding	OTTHUMT00000438927.3	34	0.00	0	G			1444910	1444910	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000574991	ensembl	human	novel	69_37n	missense	35	22.22	10	SNP	1.000	A
PIK3R5	23533	genome.wustl.edu	37	17	8792256	8792256	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:8792256C>T	ENST00000447110.1	-	10	1020				PIK3R5_ENST00000581552.1_Intron|PIK3R5_ENST00000584803.1_Intron	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5						blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCCCGGATCCCCTTCTATA	0.607																																					NSCLC(18;589 615 7696 20311 50332)	dbGAP											0													22.0	25.0	24.0					17																	8792256		2163	4271	6434	-	-	-	SO:0001627	intron_variant	0			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.896-48G>A	17.37:g.8792256C>T			B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	RNA	SNP	-	NULL	ENST00000447110.1	37	NULL	CCDS11147.1	17																																																																																			PIK3R5	-	-	ENSG00000141506		0.607	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIK3R5	HGNC	protein_coding	OTTHUMT00000227003.2	17	0.00	0	C	NM_014308		8792256	8792256	-1	no_errors	ENST00000578457	ensembl	human	known	69_37n	rna	18	62.50	30	SNP	0.003	T
PKD1L2	114780	genome.wustl.edu	37	16	81214820	81214820	+	RNA	SNP	G	G	A	rs371295174		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:81214820G>A	ENST00000527937.1	-	0	112				PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000531391.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTCCCCCATGGTGACCCTGAG	0.532																																						dbGAP											0													142.0	138.0	139.0					16																	81214820		2067	4217	6284	-	-	-			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81214820G>A			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.T685I	ENST00000527937.1	37	c.2054		16	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061484	0.55432	.	.	ENSG00000166473	ENST00000337114	T	0.70045	-0.45	4.9	3.94	0.45596	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.471542	0.21904	N	0.067418	T	0.79112	0.4391	.	.	.	0.22378	N	0.999155	D;D	0.76494	0.999;0.997	D;P	0.72075	0.976;0.892	T	0.69953	-0.5005	9	0.87932	D	0	-10.324	10.6677	0.45741	0.0913:0.0:0.9087:0.0	.	685;685	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	I	685	ENSP00000337397:T685I	ENSP00000337397:T685I	T	-	2	0	PKD1L2	79772321	0.955000	0.32602	0.646000	0.29493	0.483000	0.33249	2.445000	0.44899	1.190000	0.43042	0.563000	0.77884	ACC	PKD1L2	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000166473		0.532	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387978.1	156	0.00	0	G			81214820	81214820	-1	no_errors	ENST00000337114	ensembl	human	known	69_37n	missense	59	11.94	8	SNP	0.859	A
PKD1L2	114780	genome.wustl.edu	37	16	81214823	81214823	+	RNA	SNP	A	A	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:81214823A>T	ENST00000527937.1	-	0	109				PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000531391.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCCATGGTGACCCTGAGCAG	0.532																																						dbGAP											0													143.0	138.0	139.0					16																	81214823		2065	4219	6284	-	-	-			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81214823A>T			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.V684D	ENST00000527937.1	37	c.2051		16	.	.	.	.	.	.	.	.	.	.	A	18.40	3.614778	0.66672	.	.	ENSG00000166473	ENST00000337114	T	0.71461	-0.57	4.9	3.78	0.43462	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.179248	0.37577	N	0.002029	T	0.81269	0.4787	.	.	.	0.42438	D	0.992701	D;P	0.89917	1.0;0.9	D;P	0.74674	0.984;0.493	T	0.83015	-0.0170	9	0.87932	D	0	-27.6348	8.8885	0.35418	0.9075:0.0:0.0925:0.0	.	684;684	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	D	684	ENSP00000337397:V684D	ENSP00000337397:V684D	V	-	2	0	PKD1L2	79772324	0.972000	0.33761	0.916000	0.36221	0.759000	0.43091	1.555000	0.36277	1.971000	0.57363	0.460000	0.39030	GTC	PKD1L2	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000166473		0.532	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387978.1	155	0.00	0	A			81214823	81214823	-1	no_errors	ENST00000337114	ensembl	human	known	69_37n	missense	59	49.57	58	SNP	0.990	T
PKD2	5311	genome.wustl.edu	37	4	88996109	88996109	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:88996109G>A	ENST00000508588.1	+	9	1317	c.922G>A	c.(922-924)Gag>Aag	p.E308K	PKD2_ENST00000502363.1_Missense_Mutation_p.E308K|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Missense_Mutation_p.E890K			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGGGGTGGCCGAGGTCAGTAG	0.468																																						dbGAP											0													138.0	108.0	118.0					4																	88996109		2203	4300	6503	-	-	-	SO:0001583	missense	0			U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.922G>A	4.37:g.88996109G>A	ENSP00000427131:p.Glu308Lys		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_HAND_2,prints_PKD_2,prints_PKD_1	p.E890K	ENST00000508588.1	37	c.2668		4	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794915	0.90453	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;D;D	0.92446	-0.34;-3.04;-3.04	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.95287	0.8471	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.94387	0.7610	10	0.35671	T	0.21	-21.5133	18.3522	0.90342	0.0:0.0:1.0:0.0	.	890	Q13563	PKD2_HUMAN	K	890;308;308	ENSP00000237596:E890K;ENSP00000427131:E308K;ENSP00000425289:E308K	ENSP00000237596:E890K	E	+	1	0	PKD2	89215133	1.000000	0.71417	0.985000	0.45067	0.635000	0.38103	9.576000	0.98192	2.318000	0.78349	0.650000	0.86243	GAG	PKD2	-	NULL	ENSG00000118762		0.468	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	PKD2	HGNC	protein_coding	OTTHUMT00000363253.2	90	0.00	0	G	NM_000297		88996109	88996109	+1	no_errors	ENST00000237596	ensembl	human	known	69_37n	missense	120	35.48	66	SNP	1.000	A
PKHD1	5314	genome.wustl.edu	37	6	51768416	51768416	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:51768416G>A	ENST00000371117.3	-	43	7250	c.6975C>T	c.(6973-6975)tgC>tgT	p.C2325C	PKHD1_ENST00000340994.4_Silent_p.C2325C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2325					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)					TGGTGGGACTGCAGATATAGA	0.443																																						dbGAP											0													189.0	176.0	180.0					6																	51768416		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.6975C>T	6.37:g.51768416G>A			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.C2325	ENST00000371117.3	37	c.6975	CCDS4935.1	6																																																																																			PKHD1	-	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	ENSG00000170927		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	386	0.00	0	G	NM_138694		51768416	51768416	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	silent	261	16.35	51	SNP	0.000	A
PKHD1	5314	genome.wustl.edu	37	6	51913411	51913411	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:51913411C>T	ENST00000371117.3	-	23	2561	c.2286G>A	c.(2284-2286)gtG>gtA	p.V762V	PKHD1_ENST00000340994.4_Silent_p.V762V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	762					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)					CTTCAGTGGGCACAGAGCTGT	0.547																																						dbGAP											0													95.0	79.0	84.0					6																	51913411		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2286G>A	6.37:g.51913411C>T			Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.V762	ENST00000371117.3	37	c.2286	CCDS4935.1	6																																																																																			PKHD1	-	NULL	ENSG00000170927		0.547	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	118	0.00	0	C	NM_138694		51913411	51913411	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	silent	90	28.57	36	SNP	0.810	T
PLA2R1	22925	genome.wustl.edu	37	2	160884755	160884755	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:160884755A>G	ENST00000283243.7	-	6	1279	c.1073T>C	c.(1072-1074)cTa>cCa	p.L358P	PLA2R1_ENST00000392771.1_Missense_Mutation_p.L358P	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	358					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						AATGTGGTTTAGATATTTTTT	0.338																																						dbGAP											0													103.0	113.0	110.0					2																	160884755		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.1073T>C	2.37:g.160884755A>G	ENSP00000283243:p.Leu358Pro		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.L358P	ENST00000283243.7	37	c.1073	CCDS33309.1	2	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970025	0.53614	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.16743	2.32;2.32	5.8	5.8	0.92144	C-type lectin fold (1);C-type lectin-like (1);	0.221098	0.36002	N	0.002845	T	0.35624	0.0938	L	0.55743	1.74	0.80722	D	1	B;D;D	0.89917	0.397;1.0;1.0	B;D;D	0.91635	0.154;0.999;0.999	T	0.02860	-1.1101	10	0.26408	T	0.33	.	14.0904	0.64987	1.0:0.0:0.0:0.0	.	358;358;358	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	P	358	ENSP00000283243:L358P;ENSP00000376524:L358P	ENSP00000283243:L358P	L	-	2	0	PLA2R1	160593001	0.998000	0.40836	0.991000	0.47740	0.943000	0.58893	3.772000	0.55325	2.219000	0.72066	0.533000	0.62120	CTA	PLA2R1	-	superfamily_C-type_lectin_fold	ENSG00000153246		0.338	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2R1	HGNC	protein_coding	OTTHUMT00000333820.1	329	0.00	0	A			160884755	160884755	-1	no_errors	ENST00000283243	ensembl	human	known	69_37n	missense	263	10.77	32	SNP	0.999	G
PLAC8L1	153770	genome.wustl.edu	37	5	145477822	145477822	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:145477822C>T	ENST00000311450.4	-	2	210	c.153G>A	c.(151-153)caG>caA	p.Q51Q	RP11-118M9.3_ENST00000514002.1_RNA	NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	51										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCGAACAGGCTGCTTCACCA	0.522																																						dbGAP											0													65.0	63.0	64.0					5																	145477822		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS34264.1	5q32	2008-02-05			ENSG00000173261	ENSG00000173261			31746	protein-coding gene	gene with protein product							Standard	XM_005268381		Approved		uc003lnv.3	A1L4L8	OTTHUMG00000163418	ENST00000311450.4:c.153G>A	5.37:g.145477822C>T				Silent	SNP	pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich	p.Q51	ENST00000311450.4	37	c.153	CCDS34264.1	5																																																																																			PLAC8L1	-	NULL	ENSG00000173261		0.522	PLAC8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAC8L1	HGNC	protein_coding	OTTHUMT00000373290.1	121	0.00	0	C	XM_087761		145477822	145477822	-1	no_errors	ENST00000311450	ensembl	human	known	69_37n	silent	71	10.13	8	SNP	1.000	T
PLCXD2	257068	genome.wustl.edu	37	3	111426888	111426888	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:111426888G>A	ENST00000477665.1	+	2	603	c.279G>A	c.(277-279)aaG>aaA	p.K93K	PLCXD2_ENST00000393934.3_Silent_p.K93K	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	93	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TAATGAAGAAGTGGTCTGTGA	0.537																																						dbGAP											0													77.0	77.0	77.0					3																	111426888		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.279G>A	3.37:g.111426888G>A			Q96N12	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.K93	ENST00000477665.1	37	c.279	CCDS54619.1	3																																																																																			PLCXD2	-	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000240891		0.537	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCXD2	HGNC	protein_coding	OTTHUMT00000354322.1	162	0.00	0	G	NM_153268		111426888	111426888	+1	no_errors	ENST00000477665	ensembl	human	known	69_37n	silent	146	16.57	29	SNP	0.965	A
PLEKHG3	26030	genome.wustl.edu	37	14	65208035	65208035	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:65208035C>T	ENST00000394691.1	+	16	1947	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D	PLEKHG3_ENST00000471182.2_Silent_p.D133D|PLEKHG3_ENST00000484731.2_Silent_p.D105D|PLEKHG3_ENST00000247226.7_Silent_p.D544D			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	600							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CTGTGCTGGACCAGGCCAGCG	0.632																																						dbGAP											0													59.0	56.0	57.0					14																	65208035		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1800C>T	14.37:g.65208035C>T			A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D600	ENST00000394691.1	37	c.1800		14																																																																																			PLEKHG3	-	NULL	ENSG00000126822		0.632	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	15	0.00	0	C	NM_015549		65208035	65208035	+1	no_errors	ENST00000394691	ensembl	human	known	69_37n	silent	12	29.41	5	SNP	1.000	T
PLEKHS1	79949	genome.wustl.edu	37	10	115537246	115537246	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:115537246G>A	ENST00000369310.3	+	12	1807	c.1245G>A	c.(1243-1245)agG>agA	p.R415R	PLEKHS1_ENST00000369309.1_Intron|PLEKHS1_ENST00000361048.1_Intron|PLEKHS1_ENST00000354462.3_Intron|PLEKHS1_ENST00000369312.4_Intron	NM_182601.1	NP_872407.1	Q5SXH7	PKHS1_HUMAN	pleckstrin homology domain containing, family S member 1	0																	CTGGGTTCAGGACCTCAGATC	0.448																																						dbGAP											0													19.0	17.0	18.0					10																	115537246		876	1991	2867	-	-	-	SO:0001819	synonymous_variant	0			AK027190	CCDS7583.1, CCDS53580.1, CCDS53581.1	10q26.11	2013-01-11	2012-05-31	2012-05-31	ENSG00000148735	ENSG00000148735		"""Pleckstrin homology (PH) domain containing"""	26285	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 81"""	C10orf81		12477932	Standard	NM_024889		Approved	FLJ23537, bA211N11.2	uc001lat.2	Q5SXH7	OTTHUMG00000019074	ENST00000369310.3:c.1245G>A	10.37:g.115537246G>A			A8KA02|B3KX00|B6EDE1|Q5SXH8|Q5SXI0|Q6ZQR5|Q8NE42|Q9H5D9	Missense_Mutation	SNP	NULL	p.D146N	ENST00000369310.3	37	c.436	CCDS53580.1	10	.	.	.	.	.	.	.	.	.	.	G	5.549	0.286239	0.10513	.	.	ENSG00000148735	ENST00000448805	.	.	.	5.16	-1.08	0.09936	.	.	.	.	.	T	0.18841	0.0452	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23583	-1.0184	4	.	.	.	3.2593	0.9958	0.01466	0.3365:0.1491:0.3613:0.1531	.	.	.	.	N	146	.	.	D	+	1	0	C10orf81	115527236	0.004000	0.15560	0.000000	0.03702	0.254000	0.26022	0.401000	0.20948	-0.082000	0.12640	-2.081000	0.00379	GAC	PLEKHS1	-	NULL	ENSG00000148735		0.448	PLEKHS1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHS1	HGNC	protein_coding	OTTHUMT00000050432.1	36	0.00	0	G	NM_024889		115537246	115537246	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000448805	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	0.000	A
PLK2	10769	genome.wustl.edu	37	5	57752385	57752385	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:57752385G>A	ENST00000274289.3	-	9	1488	c.1188C>T	c.(1186-1188)taC>taT	p.Y396Y	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	396					G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GCCTAAGCTTGTAGATGTCTT	0.373																																						dbGAP											0													211.0	195.0	200.0					5																	57752385		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1188C>T	5.37:g.57752385G>A			O60679|Q96CV7|Q9UE61	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom	p.Y396	ENST00000274289.3	37	c.1188	CCDS3974.1	5	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258573	0.23051	.	.	ENSG00000145632	ENST00000442330	.	.	.	5.96	3.23	0.37069	.	.	.	.	.	T	0.63295	0.2499	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61662	-0.7017	5	0.66056	D	0.02	-18.4782	7.7001	0.28617	0.1944:0.1187:0.6869:0.0	.	.	.	.	I	382	.	ENSP00000401861:T382I	T	-	2	0	PLK2	57788142	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.628000	0.61282	0.418000	0.25898	0.650000	0.86243	ACA	PLK2	-	NULL	ENSG00000145632		0.373	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLK2	HGNC	protein_coding	OTTHUMT00000214150.1	117	0.00	0	G	NM_006622		57752385	57752385	-1	no_errors	ENST00000274289	ensembl	human	known	69_37n	silent	131	14.94	23	SNP	1.000	A
PLXNA2	5362	genome.wustl.edu	37	1	208206683	208206683	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:208206683G>A	ENST00000367033.3	-	28	5793	c.5036C>T	c.(5035-5037)aCc>aTc	p.T1679I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1679					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGTAGCCGGGTCAGGTAGAT	0.577																																						dbGAP											0													128.0	113.0	119.0					1																	208206683		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.5036C>T	1.37:g.208206683G>A	ENSP00000356000:p.Thr1679Ile		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.T1679I	ENST00000367033.3	37	c.5036	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989567	0.93106	.	.	ENSG00000076356	ENST00000367033	T	0.22134	1.97	5.53	5.53	0.82687	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.046101	0.85682	N	0.000000	T	0.57198	0.2037	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65990	-0.6034	10	0.87932	D	0	.	19.4936	0.95062	0.0:0.0:1.0:0.0	.	1679	O75051	PLXA2_HUMAN	I	1679	ENSP00000356000:T1679I	ENSP00000356000:T1679I	T	-	2	0	PLXNA2	206273306	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.507000	0.97996	2.605000	0.88082	0.655000	0.94253	ACC	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000076356		0.577	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	51	0.00	0	G	NM_025179		208206683	208206683	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	missense	68	41.88	49	SNP	1.000	A
PMFBP1	83449	genome.wustl.edu	37	16	72159258	72159258	+	Missense_Mutation	SNP	G	G	T	rs571094699		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:72159258G>T	ENST00000237353.10	-	16	2561	c.2300C>A	c.(2299-2301)aCa>aAa	p.T767K	PMFBP1_ENST00000537465.1_Missense_Mutation_p.T772K|PMFBP1_ENST00000355636.6_Missense_Mutation_p.T622K|PMFBP1_ENST00000537792.1_5'Flank	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	772						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)				TTGGGTCTGTGTCAAGCTTTG	0.468											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													216.0	216.0	216.0					16																	72159258		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.2300C>A	16.37:g.72159258G>T	ENSP00000237353:p.Thr767Lys	1135	B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.T772K	ENST00000237353.10	37	c.2315	CCDS32483.1	16	.	.	.	.	.	.	.	.	.	.	G	8.533	0.871562	0.17322	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.14766	2.48;2.48;2.48	5.5	-2.66	0.06077	.	2.622720	0.01432	N	0.014777	T	0.11153	0.0272	L	0.51422	1.61	0.09310	N	1	B;B;B	0.24426	0.103;0.035;0.103	B;B;B	0.25140	0.058;0.025;0.058	T	0.21690	-1.0238	10	0.07482	T	0.82	10.2933	3.6555	0.08220	0.4845:0.0:0.1899:0.3256	.	772;767;772	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	K	772;767;622	ENSP00000443817:T772K;ENSP00000237353:T767K;ENSP00000347854:T622K	ENSP00000237353:T767K	T	-	2	0	PMFBP1	70716759	0.000000	0.05858	0.002000	0.10522	0.645000	0.38454	-0.335000	0.07873	-0.330000	0.08514	0.555000	0.69702	ACA	PMFBP1	-	NULL	ENSG00000118557		0.468	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PMFBP1	HGNC	protein_coding	OTTHUMT00000396473.2	242	0.00	0	G	NM_031293		72159258	72159258	-1	no_errors	ENST00000537465	ensembl	human	known	69_37n	missense	121	21.94	34	SNP	0.002	T
PNPT1	87178	genome.wustl.edu	37	2	55913567	55913567	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:55913567C>T	ENST00000447944.2	-	3	321	c.235G>A	c.(235-237)Gca>Aca	p.A79T		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	79					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCATTACTGCAGTGTCACCT	0.378																																						dbGAP											0													124.0	98.0	107.0					2																	55913567		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.235G>A	2.37:g.55913567C>T	ENSP00000400646:p.Ala79Thr		Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.A79T	ENST00000447944.2	37	c.235	CCDS1856.1	2	.	.	.	.	.	.	.	.	.	.	C	16.22	3.060328	0.55432	.	.	ENSG00000138035	ENST00000447944	T	0.62498	0.02	5.05	4.11	0.48088	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.063955	0.64402	D	0.000006	T	0.50888	0.1642	N	0.20483	0.58	0.53688	D	0.999972	B	0.27450	0.179	B	0.37422	0.249	T	0.50659	-0.8802	10	0.36615	T	0.2	-22.3055	12.4118	0.55471	0.3287:0.6713:0.0:0.0	.	79	Q8TCS8	PNPT1_HUMAN	T	79	ENSP00000400646:A79T	ENSP00000260604:A79T	A	-	1	0	PNPT1	55767071	0.997000	0.39634	1.000000	0.80357	0.970000	0.65996	3.379000	0.52440	2.496000	0.84212	0.650000	0.86243	GCA	PNPT1	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase	ENSG00000138035		0.378	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	HGNC	protein_coding	OTTHUMT00000251481.2	88	0.00	0	C	NM_033109		55913567	55913567	-1	no_errors	ENST00000415374	ensembl	human	known	69_37n	missense	94	28.79	38	SNP	0.998	T
POLA2	23649	genome.wustl.edu	37	11	65055252	65055252	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:65055252G>A	ENST00000265465.3	+	11	1603	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	POLA2_ENST00000541089.1_Missense_Mutation_p.D150N	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	358					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)	CATCACGTATGACCCCCTGCT	0.512																																						dbGAP											0													171.0	124.0	140.0					11																	65055252		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.1072G>A	11.37:g.65055252G>A	ENSP00000265465:p.Asp358Asn		B4DNB4|Q9BPV3	Missense_Mutation	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.D358N	ENST00000265465.3	37	c.1072	CCDS8098.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.32|18.32	3.598646|3.598646	0.66332|0.66332	.|.	.|.	ENSG00000014138|ENSG00000014138	ENST00000265465;ENST00000541089|ENST00000525924	T;T|.	0.28895|.	1.59;1.59|.	5.95|5.95	5.95|5.95	0.96441|0.96441	DNA polymerase alpha/epsilon, subunit B (1);|.	0.178055|.	0.64402|.	D|.	0.000016|.	T|T	0.73682|0.73682	0.3618|0.3618	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	B;D|.	0.57571|.	0.147;0.98|.	B;P|.	0.60173|.	0.114;0.87|.	T|T	0.70328|0.70328	-0.4902|-0.4902	10|5	0.62326|.	D|.	0.03|.	-12.9754|-12.9754	17.887|17.887	0.88858|0.88858	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	150;358|.	B4DNB4;Q14181|.	.;DPOA2_HUMAN|.	N|I	358;150|27	ENSP00000265465:D358N;ENSP00000443222:D150N|.	ENSP00000265465:D358N|.	D|M	+|+	1|3	0|0	POLA2|POLA2	64811828|64811828	1.000000|1.000000	0.71417|0.71417	0.933000|0.933000	0.37362|0.37362	0.265000|0.265000	0.26407|0.26407	9.067000|9.067000	0.93955|0.93955	2.824000|2.824000	0.97209|0.97209	0.655000|0.655000	0.94253|0.94253	GAC|ATG	POLA2	-	pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	ENSG00000014138		0.512	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	113	0.00	0	G	NM_002689		65055252	65055252	+1	no_errors	ENST00000265465	ensembl	human	known	69_37n	missense	72	12.20	10	SNP	1.000	A
POLR2A	5430	genome.wustl.edu	37	17	7404381	7404381	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:7404381C>T	ENST00000322644.6	+	12	2403	c.2004C>T	c.(2002-2004)ttC>ttT	p.F668F		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	668					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)				CTCGCCTCTTCTACTCCAACA	0.507																																						dbGAP											0													189.0	158.0	168.0					17																	7404381		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.2004C>T	17.37:g.7404381C>T			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.F668	ENST00000322644.6	37	c.2004	CCDS32548.1	17																																																																																			POLR2A	-	pfam_RNA_pol_Rpb1_3	ENSG00000181222		0.507	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	195	0.00	0	C	NM_000937		7404381	7404381	+1	no_errors	ENST00000322644	ensembl	human	known	69_37n	silent	52	22.39	15	SNP	1.000	T
PPFIBP1	8496	genome.wustl.edu	37	12	27844711	27844711	+	Silent	SNP	G	G	A	rs201810502	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:27844711G>A	ENST00000318304.8	+	27	3016	c.2733G>A	c.(2731-2733)ggG>ggA	p.G911G	PPFIBP1_ENST00000537927.1_Silent_p.G758G|PPFIBP1_ENST00000228425.6_Silent_p.G905G|PPFIBP1_ENST00000542629.1_Silent_p.G880G	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	911					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)					GCAATTTTGGGAATTTGAGAA	0.343													G|||	4	0.000798722	0.0	0.0	5008	,	,		19054	0.002		0.0	False		,,,				2504	0.002					dbGAP											0													100.0	101.0	100.0					12																	27844711		2203	4300	6503	-	-	-	SO:0001819	synonymous_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.2733G>A	12.37:g.27844711G>A			O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.G142E	ENST00000318304.8	37	c.425	CCDS55812.1	12	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	7.045	0.563287	0.13498	.	.	ENSG00000110841	ENST00000539326	T	0.33216	1.42	5.5	3.69	0.42338	.	0.000000	0.34777	U	0.003685	T	0.42832	0.1220	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28235	-1.0050	7	0.59425	D	0.04	-22.5712	9.845	0.41021	0.2218:0.0:0.7782:0.0	.	.	.	.	E	142	ENSP00000438174:G142E	ENSP00000438174:G142E	G	+	2	0	PPFIBP1	27735978	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	0.776000	0.26704	0.701000	0.31803	-0.136000	0.14681	GGA	PPFIBP1	-	NULL	ENSG00000110841		0.343	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	PPFIBP1	HGNC	protein_coding	OTTHUMT00000402877.1	206	0.00	0	G	NM_003622		27844711	27844711	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000539326	ensembl	human	novel	69_37n	missense	246	42.12	179	SNP	1.000	A
PPOX	5498	genome.wustl.edu	37	1	161140119	161140120	+	Intron	INS	-	-	C	rs550221595		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:161140119_161140120insC	ENST00000367999.4	+	10	1253				PPOX_ENST00000544598.1_Intron|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase						heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			tgtcCCCCCCACCCCCCCAAAA	0.55																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.988-79->C	1.37:g.161140126_161140126dupC			D3DVG0|Q5VTW8	RNA	INS	-	NULL	ENST00000367999.4	37	NULL	CCDS1221.1	1																																																																																			PPOX	-	-	ENSG00000143224		0.550	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	9	0.00	0	-	NM_000309		161140119	161140120	+1	no_errors	ENST00000466452	ensembl	human	known	69_37n	rna	5	37.50	3	INS	0.002:0.003	C
PPP1R1A	5502	genome.wustl.edu	37	12	54974787	54974787	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:54974787G>A	ENST00000257905.8	-	6	621	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	PPP1R1A_ENST00000547431.1_Silent_p.N77N	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	151	Interaction with PPP1R15A.				glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						TTTGTGCTGGGTTCCTTACTG	0.537																																						dbGAP											0													225.0	213.0	217.0					12																	54974787		1890	4119	6009	-	-	-	SO:0001583	missense	0			U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.451C>T	12.37:g.54974787G>A	ENSP00000257905:p.Pro151Ser		Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	pfam_PPI_1DARPP-32	p.P151S	ENST00000257905.8	37	c.451	CCDS44912.1	12	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589059	0.46110	.	.	ENSG00000135447	ENST00000257905	T	0.26223	1.75	4.74	2.86	0.33363	.	0.486350	0.18585	N	0.136916	T	0.33962	0.0881	L	0.53249	1.67	0.25433	N	0.988166	P	0.52577	0.954	P	0.54706	0.759	T	0.10222	-1.0639	10	0.66056	D	0.02	.	6.7579	0.23524	0.0982:0.1786:0.7232:0.0	.	151	Q13522	PPR1A_HUMAN	S	151	ENSP00000257905:P151S	ENSP00000257905:P151S	P	-	1	0	PPP1R1A	53261054	0.797000	0.28877	0.355000	0.25773	0.399000	0.30720	1.376000	0.34306	0.508000	0.28173	-0.140000	0.14226	CCC	PPP1R1A	-	pfam_PPI_1DARPP-32	ENSG00000135447		0.537	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406604.1	261	0.00	0	G	NM_006741		54974787	54974787	-1	no_errors	ENST00000257905	ensembl	human	known	69_37n	missense	167	14.80	29	SNP	0.711	A
PPP1R3A	5506	genome.wustl.edu	37	7	113519950	113519950	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:113519950G>A	ENST00000284601.3	-	4	1265	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	399					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GATGTGTACAGTCATCTCCTG	0.398																																						dbGAP											0													167.0	162.0	164.0					7																	113519950		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1197C>T	7.37:g.113519950G>A			A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Silent	SNP	pfam_CBM_21,pfscan_CBM_21	p.D399	ENST00000284601.3	37	c.1197	CCDS5759.1	7																																																																																			PPP1R3A	-	NULL	ENSG00000154415		0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	594	0.00	0	G	NM_002711		113519950	113519950	-1	no_errors	ENST00000284601	ensembl	human	known	69_37n	silent	356	10.08	40	SNP	0.000	A
PPP1R3A	5506	genome.wustl.edu	37	7	113519953	113519953	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:113519953A>C	ENST00000284601.3	-	4	1262	c.1194T>G	c.(1192-1194)gaT>gaG	p.D398E		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	398					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTGTACAGTCATCTCCTGAGG	0.388																																						dbGAP											0													166.0	161.0	163.0					7																	113519953		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1194T>G	7.37:g.113519953A>C	ENSP00000284601:p.Asp398Glu		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.D398E	ENST00000284601.3	37	c.1194	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	A	6.944	0.544061	0.13312	.	.	ENSG00000154415	ENST00000284601;ENST00000449795	T;T	0.31247	2.42;1.5	5.55	1.44	0.22558	.	0.469749	0.21520	N	0.073231	T	0.14013	0.0339	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18335	-1.0340	10	0.62326	D	0.03	-0.1678	6.7133	0.23290	0.5944:0.1391:0.0:0.2665	.	398	Q16821	PPR3A_HUMAN	E	398;77	ENSP00000284601:D398E;ENSP00000401278:D77E	ENSP00000284601:D398E	D	-	3	2	PPP1R3A	113307189	0.062000	0.20869	0.045000	0.18777	0.006000	0.05464	0.843000	0.27640	0.427000	0.26145	0.533000	0.62120	GAT	PPP1R3A	-	NULL	ENSG00000154415		0.388	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	597	0.00	0	A	NM_002711		113519953	113519953	-1	no_errors	ENST00000284601	ensembl	human	known	69_37n	missense	363	10.15	41	SNP	0.014	C
PPP1R3A	5506	genome.wustl.edu	37	7	113519955	113519956	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:113519955_113519956insT	ENST00000284601.3	-	4	1259_1260	c.1191_1192insA	c.(1189-1194)ggagatfs	p.D398fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	398					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTACAGTCATCTCCTGAGGAAT	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1192dupA	7.37:g.113519956_113519956dupT	ENSP00000284601:p.Asp398fs		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Frame_Shift_Ins	INS	pfam_CBM_21,pfscan_CBM_21	p.D397fs	ENST00000284601.3	37	c.1192_1191	CCDS5759.1	7																																																																																			PPP1R3A	-	NULL	ENSG00000154415		0.386	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	581	0.00	0	-	NM_002711		113519955	113519956	-1	no_errors	ENST00000284601	ensembl	human	known	69_37n	frame_shift_ins	354	10.38	41	INS	0.010:0.014	T
PPP2R5C	5527	genome.wustl.edu	37	14	102359336	102359336	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:102359336G>A	ENST00000334743.5	+	7	737		c.e7-1		PPP2R5C_ENST00000328724.5_Splice_Site|PPP2R5C_ENST00000445439.3_Splice_Site|PPP2R5C_ENST00000422945.2_Splice_Site|PPP2R5C_ENST00000557095.1_Splice_Site|PPP2R5C_ENST00000350249.3_Splice_Site	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTTTTTACAGTATAATTAAT	0.323																																						dbGAP											0													79.0	77.0	78.0					14																	102359336		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.690-1G>A	14.37:g.102359336G>A			B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Splice_Site	SNP	-	e9-1	ENST00000334743.5	37	c.783-1	CCDS9964.1	14	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438145	0.83885	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000334756;ENST00000557621;ENST00000445439;ENST00000334743;ENST00000557095;ENST00000557716	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9938	0.92804	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP2R5C	101429089	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	9.813000	0.99286	2.481000	0.83766	0.467000	0.42956	.	PPP2R5C	-	-	ENSG00000078304		0.323	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	82	0.00	0	G	NM_002719	Intron	102359336	102359336	+1	no_errors	ENST00000422945	ensembl	human	known	69_37n	splice_site	87	13.00	13	SNP	1.000	A
PPT2	9374	genome.wustl.edu	37	6	32122470	32122470	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:32122470C>T	ENST00000324816.6	+	2	667	c.99C>T	c.(97-99)cgC>cgT	p.R33R	PPT2_ENST00000375137.2_Silent_p.R33R|PRRT1_ENST00000211413.5_5'Flank|PPT2_ENST00000375143.2_Silent_p.R33R|PPT2-EGFL8_ENST00000453656.2_3'UTR|PRRT1_ENST00000375150.2_5'Flank|PPT2_ENST00000445576.2_Silent_p.R33R|PPT2_ENST00000493548.1_3'UTR|PPT2-EGFL8_ENST00000422437.1_Silent_p.R33R|PPT2_ENST00000395523.1_Silent_p.R33R|PPT2_ENST00000437001.2_5'UTR|PPT2_ENST00000361568.2_Silent_p.R39R|PRRT1_ENST00000375152.2_5'Flank			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	33					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CGCCCCACCGCGCGTCCTACA	0.667																																						dbGAP											0													51.0	57.0	55.0					6																	32122470		1508	2707	4215	-	-	-	SO:0001819	synonymous_variant	0			AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.99C>T	6.37:g.32122470C>T			A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Silent	SNP	pfam_Palm_thioest,prints_Palm_thioest	p.R39	ENST00000324816.6	37	c.117	CCDS4742.1	6																																																																																			PPT2	-	NULL	ENSG00000221988		0.667	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT2	HGNC	protein_coding	OTTHUMT00000076552.4	116	0.00	0	C	NM_138717		32122470	32122470	+1	no_errors	ENST00000361568	ensembl	human	known	69_37n	silent	80	19.19	19	SNP	0.002	T
PPP2R5D	5528	genome.wustl.edu	37	6	42977068	42977068	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:42977068G>A	ENST00000485511.1	+	12	1439	c.1260G>A	c.(1258-1260)gaG>gaA	p.E420E	PPP2R5D_ENST00000394110.3_Silent_p.E388E|PPP2R5D_ENST00000472118.1_Silent_p.E412E|PPP2R5D_ENST00000461010.1_Silent_p.E314E	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	420					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGGTGGCAGAGCGTGCTCTCT	0.532											OREG0017447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(63;587 1613 29742 31770)	dbGAP											0													146.0	144.0	144.0					6																	42977068		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1260G>A	6.37:g.42977068G>A		912	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.A322T	ENST00000485511.1	37	c.964	CCDS4878.1	6	.	.	.	.	.	.	.	.	.	.	G	7.024	0.559248	0.13436	.	.	ENSG00000112640	ENST00000470467;ENST00000486843	.	.	.	6.04	4.28	0.50868	.	.	.	.	.	T	0.48295	0.1492	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47787	-0.9090	4	.	.	.	-29.2012	9.9647	0.41717	0.2043:0.0:0.7957:0.0	.	.	.	.	T	322;42	.	.	A	+	1	0	PPP2R5D	43085046	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.529000	0.67135	0.902000	0.36520	0.561000	0.74099	GCG	PPP2R5D	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	ENSG00000112640		0.532	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5D	HGNC	protein_coding	OTTHUMT00000040573.3	115	0.00	0	G	NM_006245		42977068	42977068	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000470467	ensembl	human	novel	69_37n	missense	108	11.48	14	SNP	1.000	A
PRDM10	56980	genome.wustl.edu	37	11	129801048	129801048	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:129801048G>A	ENST00000360871.3	-	11	1624	c.1393C>T	c.(1393-1395)Cca>Tca	p.P465S	PRDM10_ENST00000358825.5_Missense_Mutation_p.P465S|PRDM10_ENST00000526082.1_Missense_Mutation_p.P379S|PRDM10_ENST00000423662.2_Missense_Mutation_p.P379S|PRDM10_ENST00000528746.1_Missense_Mutation_p.P439S|PRDM10_ENST00000304538.6_Missense_Mutation_p.P379S	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTTTCCTGTGGCAGCTGAGGG	0.547																																						dbGAP											0													195.0	191.0	193.0					11																	129801048		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1393C>T	11.37:g.129801048G>A	ENSP00000354118:p.Pro465Ser		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P465S	ENST00000360871.3	37	c.1393	CCDS8484.1	11	.	.	.	.	.	.	.	.	.	.	G	13.32	2.203457	0.38905	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.09911	2.96;2.93;2.94;2.94;2.99;2.93;3.01	4.97	4.0	0.46444	.	0.261439	0.38720	N	0.001592	T	0.08358	0.0208	N	0.19112	0.55	0.44395	D	0.997308	B;B;B;B;B;B;B	0.33612	0.099;0.419;0.073;0.041;0.16;0.103;0.069	B;B;B;B;B;B;B	0.33690	0.017;0.168;0.037;0.017;0.037;0.085;0.037	T	0.26467	-1.0102	10	0.54805	T	0.06	-14.5349	13.6084	0.62061	0.0:0.0:0.8461:0.1539	.	379;465;465;465;379;379;379	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	S	465;379;465;379;439;379;182	ENSP00000351686:P465S;ENSP00000302669:P379S;ENSP00000354118:P465S;ENSP00000398431:P379S;ENSP00000431262:P439S;ENSP00000432237:P379S;ENSP00000435940:P182S	ENSP00000302669:P379S	P	-	1	0	PRDM10	129306258	1.000000	0.71417	0.976000	0.42696	0.771000	0.43674	2.612000	0.46343	2.461000	0.83175	0.585000	0.79938	CCA	PRDM10	-	NULL	ENSG00000170325		0.547	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM10	HGNC	protein_coding	OTTHUMT00000386076.1	190	0.00	0	G	NM_199437		129801048	129801048	-1	no_errors	ENST00000358825	ensembl	human	known	69_37n	missense	185	17.70	40	SNP	0.997	A
PRDM14	63978	genome.wustl.edu	37	8	70980764	70980764	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:70980764G>A	ENST00000276594.2	-	3	905	c.704C>T	c.(703-705)tCt>tTt	p.S235F		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	235					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AAGAGAATCAGATCCTAGCAA	0.393																																					NSCLC(129;99 1813 5906 40656 46114)	dbGAP											0													84.0	81.0	82.0					8																	70980764		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.704C>T	8.37:g.70980764G>A	ENSP00000276594:p.Ser235Phe		Q86UX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.S235F	ENST00000276594.2	37	c.704	CCDS6206.1	8	.	.	.	.	.	.	.	.	.	.	G	14.86	2.662685	0.47572	.	.	ENSG00000147596	ENST00000276594	T	0.12879	2.64	5.05	3.25	0.37280	.	0.373597	0.19292	N	0.117873	T	0.15305	0.0369	M	0.67953	2.075	0.09310	N	1	P	0.42409	0.779	B	0.40038	0.317	T	0.15983	-1.0418	10	0.87932	D	0	-2.0463	6.0916	0.19997	0.1667:0.1574:0.6759:0.0	.	235	Q9GZV8	PRD14_HUMAN	F	235	ENSP00000276594:S235F	ENSP00000276594:S235F	S	-	2	0	PRDM14	71143318	0.899000	0.30636	0.001000	0.08648	0.698000	0.40448	1.780000	0.38634	0.711000	0.32018	0.491000	0.48974	TCT	PRDM14	-	NULL	ENSG00000147596		0.393	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM14	HGNC	protein_coding	OTTHUMT00000318505.1	51	0.00	0	G			70980764	70980764	-1	no_errors	ENST00000276594	ensembl	human	known	69_37n	missense	44	27.87	17	SNP	0.001	A
PRDM2	7799	genome.wustl.edu	37	1	14106589	14106589	+	Missense_Mutation	SNP	G	G	A	rs200363632		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:14106589G>A	ENST00000235372.7	+	8	3155	c.2299G>A	c.(2299-2301)Ggg>Agg	p.G767R	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.G566R|PRDM2_ENST00000311066.5_Missense_Mutation_p.G767R|PRDM2_ENST00000413440.1_Missense_Mutation_p.G566R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	767					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GACCGATGCCGGGCTGACTTC	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19602	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													64.0	63.0	63.0					1																	14106589		2203	4300	6503	-	-	-	SO:0001583	missense	0			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.2299G>A	1.37:g.14106589G>A	ENSP00000235372:p.Gly767Arg		B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.G767R	ENST00000235372.7	37	c.2299	CCDS150.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	5.251	0.231782	0.09969	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.01495	4.95;4.83;4.83;4.83	5.61	5.61	0.85477	.	0.681911	0.13854	N	0.358141	T	0.01061	0.0035	N	0.08118	0	0.09310	N	1	P;B;P;P	0.45531	0.78;0.245;0.78;0.86	B;B;B;B	0.20767	0.013;0.031;0.013;0.029	T	0.59161	-0.7506	10	0.44086	T	0.13	.	15.0332	0.71723	0.0:0.1427:0.8573:0.0	.	767;625;767;767	A8MW16;Q5THJ0;Q13029;Q13029-2	.;.;PRDM2_HUMAN;.	R	767;767;767;566;566	ENSP00000235372:G767R;ENSP00000312352:G767R;ENSP00000411103:G566R;ENSP00000341621:G566R	ENSP00000235372:G767R	G	+	1	0	PRDM2	13979176	0.001000	0.12720	0.007000	0.13788	0.114000	0.19823	1.136000	0.31467	2.793000	0.96121	0.655000	0.94253	GGG	PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot	ENSG00000116731		0.522	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	162	0.00	0	G	NM_012231		14106589	14106589	+1	no_errors	ENST00000235372	ensembl	human	known	69_37n	missense	274	12.97	41	SNP	0.001	A
PRDX1	5052	genome.wustl.edu	37	1	45984688	45984688	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:45984688G>A	ENST00000262746.1	-	2	367	c.28C>T	c.(28-30)Cac>Tac	p.H10Y	PRDX1_ENST00000372079.1_Missense_Mutation_p.H10Y|PRDX1_ENST00000319248.8_Missense_Mutation_p.H10Y|PRDX1_ENST00000483583.1_5'UTR	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1	10	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell proliferation (GO:0008283)|erythrocyte homeostasis (GO:0034101)|hydrogen peroxide catabolic process (GO:0042744)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of NF-kappaB import into nucleus (GO:0042345)|regulation of stress-activated MAPK cascade (GO:0032872)|removal of superoxide radicals (GO:0019430)|retina homeostasis (GO:0001895)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)	heme binding (GO:0020037)|peroxidase activity (GO:0004601)|poly(A) RNA binding (GO:0044822)|thioredoxin peroxidase activity (GO:0008379)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GGGGCAGGGTGCCCAATTTTA	0.413																																						dbGAP											0													92.0	89.0	90.0					1																	45984688		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC021683	CCDS522.1	1p34.1	2008-02-05			ENSG00000117450	ENSG00000117450			9352	protein-coding gene	gene with protein product		176763		PAGA		8496166	Standard	NM_181697		Approved	NKEFA	uc021omw.1	Q06830	OTTHUMG00000007738	ENST00000262746.1:c.28C>T	1.37:g.45984688G>A	ENSP00000262746:p.His10Tyr		B5BU26|D3DPZ8|P35703|Q2V576|Q5T154|Q5T155	Missense_Mutation	SNP	pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold	p.H10Y	ENST00000262746.1	37	c.28	CCDS522.1	1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.437332	0.43224	.	.	ENSG00000117450	ENST00000262746;ENST00000319248;ENST00000372079;ENST00000447184;ENST00000424390	T;T;T;T;T	0.22743	2.57;2.57;1.94;2.57;2.57	5.77	2.88	0.33553	Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant (1);Thioredoxin-like fold (3);	0.450597	0.28803	N	0.014087	T	0.12263	0.0298	N	0.20483	0.58	0.27048	N	0.96385	B	0.06786	0.001	B	0.04013	0.001	T	0.16600	-1.0397	10	0.56958	D	0.05	-7.143	6.7945	0.23717	0.2086:0.0:0.6421:0.1493	.	10	Q06830	PRDX1_HUMAN	Y	10	ENSP00000262746:H10Y;ENSP00000361152:H10Y;ENSP00000361150:H10Y;ENSP00000407034:H10Y;ENSP00000389047:H10Y	ENSP00000262746:H10Y	H	-	1	0	PRDX1	45757275	0.998000	0.40836	0.998000	0.56505	0.998000	0.95712	0.590000	0.23954	0.453000	0.26858	0.650000	0.86243	CAC	PRDX1	-	pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold	ENSG00000117450		0.413	PRDX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX1	HGNC	protein_coding	OTTHUMT00000020845.1	132	0.00	0	G	NM_181697		45984688	45984688	-1	no_errors	ENST00000262746	ensembl	human	known	69_37n	missense	187	17.26	39	SNP	0.989	A
PRF1	5551	genome.wustl.edu	37	10	72358691	72358691	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:72358691G>A	ENST00000441259.1	-	3	946	c.786C>T	c.(784-786)gcC>gcT	p.A262A	PRF1_ENST00000373209.2_Silent_p.A262A	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	262	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TGTTGACCTGGGCCTCGACAG	0.617			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													dbGAP	yes	Rec			10	10q22	5551	perforin 1 (pore forming protein)		L	0													180.0	116.0	138.0					10																	72358691		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.786C>T	10.37:g.72358691G>A			B2R6X4|Q59F57|Q86WX7	Silent	SNP	pfam_MACPF,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_MACPF,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.A262	ENST00000441259.1	37	c.786	CCDS7305.1	10																																																																																			PRF1	-	pfam_MACPF,smart_MACPF	ENSG00000180644		0.617	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRF1	HGNC	protein_coding	OTTHUMT00000048517.2	63	0.00	0	G	NM_005041		72358691	72358691	-1	no_errors	ENST00000318971	ensembl	human	known	69_37n	silent	30	21.05	8	SNP	0.378	A
PRKACA	5566	genome.wustl.edu	37	19	14208282	14208282	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:14208282G>A	ENST00000308677.4	-	8	852	c.656C>T	c.(655-657)gCc>gTc	p.A219V	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.A211V	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|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)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CCAGTCCACGGCCTTGTTGTA	0.632																																						dbGAP											0													32.0	37.0	36.0					19																	14208282		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.656C>T	19.37:g.14208282G>A	ENSP00000309591:p.Ala219Val		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	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,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A219V	ENST00000308677.4	37	c.656	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	G	28.3	4.912093	0.92178	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.09350	2.99	4.54	4.54	0.55810	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	0.40818	U	0.001009	T	0.26991	0.0661	L	0.52364	1.645	0.50171	D	0.99985	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.74674	0.984;0.971;0.978	T	0.01378	-1.1370	10	0.87932	D	0	.	14.7756	0.69729	0.0:0.0:1.0:0.0	.	161;219;211	B7Z708;P17612;P17612-2	.;KAPCA_HUMAN;.	V	219;211;219;161	ENSP00000309591:A219V	ENSP00000309591:A219V	A	-	2	0	PRKACA	14069282	1.000000	0.71417	0.994000	0.49952	0.947000	0.59692	9.579000	0.98204	2.054000	0.61138	0.591000	0.81541	GCC	PRKACA	-	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	ENSG00000072062		0.632	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	HGNC	protein_coding	OTTHUMT00000459004.1	31	0.00	0	G	NM_002730		14208282	14208282	-1	no_errors	ENST00000308677	ensembl	human	known	69_37n	missense	23	32.43	12	SNP	1.000	A
PRKD3	23683	genome.wustl.edu	37	2	37483934	37483934	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:37483934C>T	ENST00000379066.1	-	17	3046	c.2284G>A	c.(2284-2286)Gtg>Atg	p.V762M	PRKD3_ENST00000234179.2_Missense_Mutation_p.V762M			O94806	KPCD3_HUMAN	protein kinase D3	762	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATAACTCCCACTGACCACATA	0.433																																					Melanoma(80;621 1355 8613 11814 51767)	dbGAP											0													141.0	138.0	139.0					2																	37483934		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.2284G>A	2.37:g.37483934C>T	ENSP00000368356:p.Val762Met		D6W587|Q53TR7|Q8NEL8	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,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.V762M	ENST00000379066.1	37	c.2284	CCDS1789.1	2	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656215	0.88056	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.41758	0.99;0.99	5.34	5.34	0.76211	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.52256	0.1723	N	0.20401	0.57	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.58498	-0.7626	10	0.72032	D	0.01	-11.0546	19.0616	0.93095	0.0:1.0:0.0:0.0	.	762	O94806	KPCD3_HUMAN	M	762	ENSP00000368356:V762M;ENSP00000234179:V762M	ENSP00000234179:V762M	V	-	1	0	PRKD3	37337438	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.807000	0.86032	2.499000	0.84300	0.591000	0.81541	GTG	PRKD3	-	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	ENSG00000115825		0.433	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD3	HGNC	protein_coding	OTTHUMT00000218570.3	265	0.00	0	C	NM_005813		37483934	37483934	-1	no_errors	ENST00000234179	ensembl	human	known	69_37n	missense	175	12.50	25	SNP	1.000	T
PRKG1	5592	genome.wustl.edu	37	10	53822322	53822322	+	Missense_Mutation	SNP	C	C	T	rs549568221		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:53822322C>T	ENST00000401604.2	+	7	1015	c.821C>T	c.(820-822)cCg>cTg	p.P274L	PRKG1_ENST00000373985.1_Missense_Mutation_p.P262L|PRKG1_ENST00000373980.4_Missense_Mutation_p.P289L|PRKG1_ENST00000373975.2_5'UTR			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	274	cGMP-binding, low affinity.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GAAGACTCACCGAGTGAAGAC	0.403													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16219	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													67.0	67.0	67.0					10																	53822322		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.821C>T	10.37:g.53822322C>T	ENSP00000384200:p.Pro274Leu		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom	p.P289L	ENST00000401604.2	37	c.866	CCDS44399.1	10	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342473	0.61073	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000373976	D;D;D;D	0.92348	-3.02;-3.02;-3.02;-3.02	5.76	5.76	0.90799	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.122487	0.56097	D	0.000033	D	0.88332	0.6408	L	0.33293	1	0.80722	D	1	B;B	0.26002	0.123;0.139	B;B	0.23150	0.026;0.044	D	0.85050	0.0928	10	0.52906	T	0.07	-9.565	17.4752	0.87658	0.0:1.0:0.0:0.0	.	289;274	Q13976-2;Q13976	.;KGP1_HUMAN	L	274;262;289;147	ENSP00000384200:P274L;ENSP00000363097:P262L;ENSP00000363092:P289L;ENSP00000363087:P147L	ENSP00000363087:P147L	P	+	2	0	PRKG1	53492328	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.352000	0.79404	2.726000	0.93360	0.655000	0.94253	CCG	PRKG1	-	pirsf_cGMP-dependent_protein_kinase,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000185532		0.403	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	HGNC	protein_coding		151	0.00	0	C			53822322	53822322	+1	no_errors	ENST00000373980	ensembl	human	known	69_37n	missense	56	17.65	12	SNP	1.000	T
PRPSAP2	5636	genome.wustl.edu	37	17	18832139	18832139	+	Missense_Mutation	SNP	G	G	A	rs373764009		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:18832139G>A	ENST00000268835.2	+	11	1103	c.820G>A	c.(820-822)Gat>Aat	p.D274N	PRPSAP2_ENST00000542013.1_Intron|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.D234N|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.D188N	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	274					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CATCATTGATGATGTTGACAG	0.433																																						dbGAP											0													156.0	139.0	144.0					17																	18832139		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.820G>A	17.37:g.18832139G>A	ENSP00000268835:p.Asp274Asn		B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Missense_Mutation	SNP	tigrfam_Rib-P_diPkinase	p.D274N	ENST00000268835.2	37	c.820	CCDS11200.1	17	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902883	0.72754	.	.	ENSG00000141127	ENST00000395656;ENST00000419071;ENST00000268835;ENST00000536323	T;T;T	0.74209	-0.82;-0.82;-0.82	5.16	5.16	0.70880	.	0.049189	0.85682	D	0.000000	T	0.73606	0.3608	L	0.59436	1.845	0.80722	D	1	B;B;B	0.27971	0.196;0.025;0.12	B;B;B	0.31337	0.128;0.024;0.072	T	0.69964	-0.5002	10	0.30854	T	0.27	-25.3327	19.0527	0.93052	0.0:0.0:1.0:0.0	.	234;61;274	E7EMY2;Q6ZTP6;O60256	.;.;KPRB_HUMAN	N	274;234;274;188	ENSP00000392536:D234N;ENSP00000268835:D274N;ENSP00000443967:D188N	ENSP00000268835:D274N	D	+	1	0	PRPSAP2	18772864	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	6.630000	0.74272	2.561000	0.86390	0.579000	0.79373	GAT	PRPSAP2	-	tigrfam_Rib-P_diPkinase	ENSG00000141127		0.433	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPSAP2	HGNC	protein_coding	OTTHUMT00000132112.3	139	0.00	0	G	NM_002767		18832139	18832139	+1	no_errors	ENST00000268835	ensembl	human	known	69_37n	missense	153	16.39	30	SNP	1.000	A
PRRC2B	84726	genome.wustl.edu	37	9	134343010	134343010	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:134343010T>G	ENST00000357304.4	+	12	1836	c.1781T>G	c.(1780-1782)gTg>gGg	p.V594G	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.V594G|PRRC2B_ENST00000405995.1_Missense_Mutation_p.V594G	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	594							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GCACCCACAGTGTCCCCAGCA	0.567																																						dbGAP											0													42.0	46.0	45.0					9																	134343010		1963	4161	6124	-	-	-	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.1781T>G	9.37:g.134343010T>G	ENSP00000349856:p.Val594Gly		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.V594G	ENST00000357304.4	37	c.1781	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	T	11.55	1.671859	0.29693	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000422467	T;T;T;T	0.09163	3.01;3.01;3.01;3.01	5.76	-1.34	0.09143	.	2.091680	0.03523	U	0.221343	T	0.07728	0.0194	N	0.22421	0.69	0.09310	N	0.999997	B	0.02656	0.0	B	0.04013	0.001	T	0.36986	-0.9725	10	0.27082	T	0.32	0.0246	6.487	0.22095	0.0:0.2823:0.1427:0.5751	.	594	Q5JSZ5	PRC2B_HUMAN	G	594;594;594;134	ENSP00000384606:V594G;ENSP00000349856:V594G;ENSP00000398853:V594G;ENSP00000391063:V134G	ENSP00000349856:V594G	V	+	2	0	PRRC2B	133332831	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.487000	0.06505	-0.070000	0.12908	-1.125000	0.01998	GTG	PRRC2B	-	NULL	ENSG00000130723		0.567	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		36	0.00	0	T			134343010	134343010	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.000	G
PRUNE2	158471	genome.wustl.edu	37	9	79320666	79320666	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:79320666G>A	ENST00000376718.3	-	8	6647	c.6524C>T	c.(6523-6525)gCa>gTa	p.A2175V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1816V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2175					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						CTTTATGTCTGCTTGATAGCC	0.458																																						dbGAP											0													115.0	107.0	109.0					9																	79320666		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.6524C>T	9.37:g.79320666G>A	ENSP00000365908:p.Ala2175Val		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.A1816V	ENST00000376718.3	37	c.5447	CCDS47982.1	9	.	.	.	.	.	.	.	.	.	.	G	8.738	0.918342	0.17982	.	.	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.43294	0.95;0.95	5.76	2.84	0.33178	.	1.313230	0.04977	N	0.465034	T	0.31420	0.0796	L	0.38531	1.155	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20605	-1.0270	10	0.26408	T	0.33	-0.2891	2.9456	0.05845	0.2054:0.1183:0.5478:0.1285	.	2175	Q8WUY3	PRUN2_HUMAN	V	2175;1816;2174	ENSP00000365908:A2175V;ENSP00000397425:A1816V	ENSP00000365908:A2175V	A	-	2	0	PRUNE2	78510486	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.478000	0.06575	0.733000	0.32492	0.655000	0.94253	GCA	PRUNE2	-	NULL	ENSG00000106772		0.458	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	114	0.00	0	G	NM_138818		79320666	79320666	-1	no_errors	ENST00000428286	ensembl	human	known	69_37n	missense	109	46.04	93	SNP	0.000	A
PRUNE2	158471	genome.wustl.edu	37	9	79461546	79461546	+	Silent	SNP	A	A	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:79461546A>T	ENST00000376718.3	-	4	516	c.393T>A	c.(391-393)gtT>gtA	p.V131V	PRUNE2_ENST00000376713.3_Silent_p.V131V|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	131					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						CGCTCTGCTCAACCGGATTAA	0.463																																						dbGAP											0													113.0	111.0	112.0					9																	79461546		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.393T>A	9.37:g.79461546A>T			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.V131	ENST00000376718.3	37	c.393	CCDS47982.1	9																																																																																			PRUNE2	-	NULL	ENSG00000106772		0.463	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	173	0.00	0	A	NM_138818		79461546	79461546	-1	no_errors	ENST00000376718	ensembl	human	novel	69_37n	silent	82	15.46	15	SNP	0.000	T
PRRC2B	84726	genome.wustl.edu	37	9	134366851	134366851	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:134366851C>T	ENST00000357304.4	+	28	6320	c.6265C>T	c.(6265-6267)Cca>Tca	p.P2089S	SNORD62B_ENST00000426867.1_RNA|PRRC2B_ENST00000372249.1_Missense_Mutation_p.P186S|PRRC2B_ENST00000465931.1_3'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.P1395S|PRRC2B_ENST00000405995.1_Missense_Mutation_p.P1395S	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	2089							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CGGGCAGCAGCCACTGATCCT	0.647																																						dbGAP											0													40.0	47.0	45.0					9																	134366851		2009	4160	6169	-	-	-	SO:0001583	missense	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.6265C>T	9.37:g.134366851C>T	ENSP00000349856:p.Pro2089Ser		O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.P2089S	ENST00000357304.4	37	c.6265	CCDS48044.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.70|18.70	3.680634|3.680634	0.68042|0.68042	.|.	.|.	ENSG00000130723|ENSG00000130723	ENST00000320547|ENST00000405995;ENST00000357304;ENST00000458550;ENST00000372249	.|T;T;T	.|0.02525	.|4.26;4.58;4.26	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.41500	.|U	.|0.000862	T|T	0.07324|0.07324	0.0185|0.0185	L|L	0.54323|0.54323	1.7|1.7	0.51233|0.51233	D|D	0.999913|0.999913	.|D;P	.|0.53462	.|0.96;0.879	.|P;B	.|0.50708	.|0.648;0.319	T|T	0.02925|0.02925	-1.1093|-1.1093	5|10	.|0.66056	.|D	.|0.02	-26.0827|-26.0827	13.2665|13.2665	0.60137|0.60137	0.1584:0.8416:0.0:0.0|0.1584:0.8416:0.0:0.0	.|.	.|1395;2089	.|Q5JSZ5-5;Q5JSZ5	.|.;PRC2B_HUMAN	V|S	95|1395;2089;1395;186	.|ENSP00000384606:P1395S;ENSP00000349856:P2089S;ENSP00000398853:P1395S	.|ENSP00000349856:P2089S	A|P	+|+	2|1	0|0	PRRC2B|PRRC2B	133356672|133356672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.444000|0.444000	0.32077|0.32077	4.405000|4.405000	0.59741|0.59741	2.552000|2.552000	0.86080|0.86080	0.555000|0.555000	0.69702|0.69702	GCC|CCA	PRRC2B	-	NULL	ENSG00000130723		0.647	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		28	0.00	0	C			134366851	134366851	+1	no_errors	ENST00000357304	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	1.000	T
PSD3	23362	genome.wustl.edu	37	8	18729656	18729656	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:18729656C>T	ENST00000327040.8	-	3	820	c.718G>A	c.(718-720)Gct>Act	p.A240T	PSD3_ENST00000523619.1_Missense_Mutation_p.A175T|PSD3_ENST00000440756.2_Missense_Mutation_p.A240T	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	240					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)		ACACAGACAGCCCCTTTCCTC	0.507																																						dbGAP											0													71.0	70.0	70.0					8																	18729656		1941	4133	6074	-	-	-	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.718G>A	8.37:g.18729656C>T	ENSP00000324127:p.Ala240Thr		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.A240T	ENST00000327040.8	37	c.718	CCDS43720.1	8	.	.	.	.	.	.	.	.	.	.	C	4.455	0.084317	0.08583	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.30714	1.52;1.52;1.52	6.06	0.388	0.16264	.	1.089620	0.06976	N	0.819041	T	0.15652	0.0377	N	0.17082	0.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29274	-1.0017	10	0.23891	T	0.37	.	2.1033	0.03685	0.1347:0.4686:0.14:0.2567	.	240	E9KL50	.	T	240;240;175	ENSP00000324127:A240T;ENSP00000401704:A240T;ENSP00000430640:A175T	ENSP00000324127:A240T	A	-	1	0	PSD3	18773936	0.039000	0.19947	0.005000	0.12908	0.013000	0.08279	0.059000	0.14322	0.116000	0.18110	0.655000	0.94253	GCT	PSD3	-	NULL	ENSG00000156011		0.507	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1	225	0.00	0	C	NM_015310		18729656	18729656	-1	no_errors	ENST00000440756	ensembl	human	known	69_37n	missense	166	19.02	39	SNP	0.006	T
PSME1	5720	genome.wustl.edu	37	14	24607822	24607822	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:24607822C>T	ENST00000206451.6	+	10	774				PSME1_ENST00000382708.3_Missense_Mutation_p.T241I|PSME1_ENST00000559123.1_Intron|EMC9_ENST00000558200.1_5'Flank|PSME1_ENST00000561435.1_Intron|RP11-468E2.5_ENST00000558478.1_lincRNA	NM_001281528.1|NM_006263.2	NP_001268457.1|NP_006254.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)						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)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		TCCCAGGCCACCCACTCCCTG	0.602																																						dbGAP											0													50.0	53.0	52.0					14																	24607822		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS9612.1, CCDS41930.1, CCDS61415.1	14q11.2	2008-08-29			ENSG00000092010	ENSG00000092010		"""Proteasome (prosome, macropain) subunits"""	9568	protein-coding gene	gene with protein product		600654				8269930	Standard	NM_006263		Approved	IFI5111, PA28alpha	uc001wmh.3	Q06323	OTTHUMG00000028795	ENST00000206451.6:c.669+53C>T	14.37:g.24607822C>T			A6NJG9|H0YNE3|Q6IBM2|Q9UEF4	Missense_Mutation	SNP	pfam_Proteasome_activ_REG_bsu,pfam_Proteasome_activ_REG_asu,superfamily_Proteasome_activ_REG_asu/bsu	p.T241I	ENST00000206451.6	37	c.722	CCDS9612.1	14	.	.	.	.	.	.	.	.	.	.	c	11.61	1.690143	0.29962	.	.	ENSG00000092010	ENST00000382708	T	0.32753	1.44	4.73	0.374	0.16183	.	1.471100	0.03639	N	0.239209	T	0.14700	0.0355	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17107	-1.0380	9	.	.	.	.	3.2034	0.06657	0.2027:0.4944:0.0:0.303	.	241	A6NJG9	.	I	241	ENSP00000372155:T241I	.	T	+	2	0	PSME1	23677662	0.000000	0.05858	0.001000	0.08648	0.690000	0.40134	0.202000	0.17295	0.205000	0.20568	0.563000	0.77884	ACC	PSME1	-	NULL	ENSG00000092010		0.602	PSME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME1	HGNC	protein_coding	OTTHUMT00000071910.2	68	0.00	0	C	NM_006263		24607822	24607822	+1	no_errors	ENST00000382708	ensembl	human	known	69_37n	missense	71	27.55	27	SNP	0.000	T
PSME4	23198	genome.wustl.edu	37	2	54164619	54164619	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:54164619G>A	ENST00000404125.1	-	5	659	c.604C>T	c.(604-606)Cct>Tct	p.P202S	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	202					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)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACATCAAAAGGGCACATTAAA	0.368																																						dbGAP											0													99.0	105.0	103.0					2																	54164619		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.604C>T	2.37:g.54164619G>A	ENSP00000384211:p.Pro202Ser		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.P202S	ENST00000404125.1	37	c.604	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	G	32	5.177694	0.94846	.	.	ENSG00000068878	ENST00000404125	D	0.91686	-2.89	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.95865	0.8654	M	0.83483	2.645	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.93671	0.6990	10	0.22706	T	0.39	.	20.1358	0.98028	0.0:0.0:1.0:0.0	.	202	Q14997	PSME4_HUMAN	S	202	ENSP00000384211:P202S	ENSP00000374643:P202S	P	-	1	0	PSME4	54018123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.833000	0.97629	0.585000	0.79938	CCT	PSME4	-	NULL	ENSG00000068878		0.368	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1	107	0.00	0	G	XM_040158		54164619	54164619	-1	no_errors	ENST00000404125	ensembl	human	known	69_37n	missense	97	10.19	11	SNP	1.000	A
PTCHD4	442213	genome.wustl.edu	37	6	48036156	48036156	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:48036156C>T	ENST00000339488.4	-	1	269	c.236G>A	c.(235-237)aGc>aAc	p.S79N	PTCHD4_ENST00000543600.1_Missense_Mutation_p.S62N	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	79						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTTGGCCAGGCTGTGGCTGGG	0.652																																						dbGAP											0													44.0	50.0	48.0					6																	48036156		1974	4149	6123	-	-	-	SO:0001583	missense	0				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.236G>A	6.37:g.48036156C>T	ENSP00000341914:p.Ser79Asn		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.S79N	ENST00000339488.4	37	c.236	CCDS34473.2	6	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470085	0.63625	.	.	ENSG00000244694	ENST00000339488;ENST00000543600	D;T	0.93426	-3.22;0.36	4.84	3.98	0.46160	.	0.095249	0.64402	D	0.000002	D	0.90957	0.7157	M	0.66939	2.045	0.80722	D	1	D;B	0.53885	0.963;0.107	P;B	0.47299	0.543;0.018	D	0.90892	0.4762	10	0.66056	D	0.02	.	13.3414	0.60547	0.0:0.9226:0.0:0.0774	.	79;62	Q6ZW05;B0QZ29	CF138_HUMAN;.	N	79;62	ENSP00000341914:S79N;ENSP00000439864:S62N	ENSP00000341914:S79N	S	-	2	0	C6orf138	48144115	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.394000	0.79862	1.045000	0.40225	-0.221000	0.12465	AGC	PTCHD4	-	NULL	ENSG00000244694		0.652	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	HGNC	protein_coding	OTTHUMT00000317987.2	51	0.00	0	C	NM_001013732		48036156	48036156	-1	no_errors	ENST00000339488	ensembl	human	known	69_37n	missense	79	53.49	92	SNP	1.000	T
PTH2R	5746	genome.wustl.edu	37	2	209345889	209345889	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:209345889G>A	ENST00000272847.2	+	10	1289	c.1076G>A	c.(1075-1077)aGg>aAg	p.R359K	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	359					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	AAGCAATACAGGTAATTTCAG	0.393																																						dbGAP											0													91.0	87.0	89.0					2																	209345889		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.1076+1G>A	2.37:g.209345889G>A			Q8N429	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_secretin-like	p.R359K	ENST00000272847.2	37	c.1076	CCDS2383.1	2	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241913	0.58995	.	.	ENSG00000144407	ENST00000272847	T	0.37411	1.2	5.54	5.54	0.83059	GPCR, family 2-like (1);	0.000000	0.52532	U	0.000076	T	0.39733	0.1089	L	0.37800	1.135	0.80722	D	1	B;B	0.26512	0.091;0.151	B;B	0.40940	0.119;0.344	T	0.13415	-1.0510	9	.	.	.	.	17.3291	0.87258	0.0:0.0:1.0:0.0	.	248;359	B4DFN8;P49190	.;PTH2R_HUMAN	K	359	ENSP00000272847:R359K	.	R	+	2	0	PTH2R	209054134	1.000000	0.71417	1.000000	0.80357	0.458000	0.32498	7.432000	0.80349	2.768000	0.95171	0.650000	0.86243	AGG	PTH2R	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000144407		0.393	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2R	HGNC	protein_coding	OTTHUMT00000256519.2	155	0.00	0	G	NM_005048	Missense_Mutation	209345889	209345889	+1	no_errors	ENST00000272847	ensembl	human	known	69_37n	missense	138	17.86	30	SNP	1.000	A
PTPN12	5782	genome.wustl.edu	37	7	77261731	77261731	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:77261731C>T	ENST00000248594.6	+	14	2335	c.2063C>T	c.(2062-2064)gCa>gTa	p.A688V	PTPN12_ENST00000435495.2_Missense_Mutation_p.A558V|PTPN12_ENST00000415482.2_Missense_Mutation_p.A569V	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	688					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTTGTGTTAGCAAGTGAACAT	0.308																																						dbGAP											0													177.0	163.0	168.0					7																	77261731		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.2063C>T	7.37:g.77261731C>T	ENSP00000248594:p.Ala688Val		A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A688V	ENST00000248594.6	37	c.2063	CCDS5592.1	7	.	.	.	.	.	.	.	.	.	.	C	22.1	4.248510	0.80024	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000435495	T;T;T	0.16196	2.94;2.36;2.36	5.75	5.75	0.90469	.	0.158350	0.56097	D	0.000030	T	0.27205	0.0667	M	0.74647	2.275	0.47698	D	0.999493	P	0.48294	0.908	B	0.41860	0.368	T	0.07121	-1.0789	10	0.87932	D	0	.	18.1239	0.89580	0.0:1.0:0.0:0.0	.	688	Q05209	PTN12_HUMAN	V	688;569;558	ENSP00000248594:A688V;ENSP00000392429:A569V;ENSP00000397991:A558V	ENSP00000248594:A688V	A	+	2	0	PTPN12	77099667	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.381000	0.66208	2.710000	0.92621	0.563000	0.77884	GCA	PTPN12	-	pirsf_Tyr_Pase_non-rcpt_typ-12	ENSG00000127947		0.308	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	133	0.00	0	C			77261731	77261731	+1	no_errors	ENST00000248594	ensembl	human	known	69_37n	missense	104	11.86	14	SNP	1.000	T
PUM2	23369	genome.wustl.edu	37	2	20508302	20508302	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:20508302C>T	ENST00000361078.2	-	5	584	c.562G>A	c.(562-564)Gag>Aag	p.E188K	PUM2_ENST00000536417.1_Missense_Mutation_p.E132K|PUM2_ENST00000338086.5_Missense_Mutation_p.E188K|PUM2_ENST00000420234.1_5'UTR|PUM2_ENST00000319801.5_Missense_Mutation_p.E188K|PUM2_ENST00000403432.1_Missense_Mutation_p.E188K			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	188	Interaction with SNAPIN.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCAAGCGCTCAACTACTTCA	0.403																																						dbGAP											0													57.0	60.0	59.0					2																	20508302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.562G>A	2.37:g.20508302C>T	ENSP00000354370:p.Glu188Lys		B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Missense_Mutation	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.E188K	ENST00000361078.2	37	c.562		2	.	.	.	.	.	.	.	.	.	.	C	37	6.019889	0.97205	.	.	ENSG00000055917	ENST00000338086;ENST00000361078;ENST00000319801;ENST00000440577;ENST00000403432;ENST00000536417;ENST00000442400	T;T;T;T;T;T	0.19105	2.18;2.45;2.43;2.17;2.18;2.21	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	L	0.59436	1.845	0.80722	D	1	P;D;P	0.63880	0.773;0.993;0.837	B;D;P	0.70935	0.338;0.971;0.465	T	0.08351	-1.0726	10	0.51188	T	0.08	-11.2738	20.6439	0.99570	0.0:1.0:0.0:0.0	.	132;188;188	B4E2B6;B7ZL34;Q8TB72-3	.;.;.	K	188;188;188;79;188;132;188	ENSP00000338173:E188K;ENSP00000354370:E188K;ENSP00000326746:E188K;ENSP00000409905:E79K;ENSP00000385992:E188K;ENSP00000440093:E132K	ENSP00000326746:E188K	E	-	1	0	PUM2	20371783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.629000	0.83207	2.890000	0.99128	0.650000	0.86243	GAG	PUM2	-	NULL	ENSG00000055917		0.403	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		196	0.00	0	C	NM_015317		20508302	20508302	-1	no_errors	ENST00000361078	ensembl	human	known	69_37n	missense	227	12.69	33	SNP	1.000	T
PTPRN	5798	genome.wustl.edu	37	2	220161010	220161010	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:220161010C>T	ENST00000295718.2	-	18	2686	c.2446G>A	c.(2446-2448)Ggt>Agt	p.G816S	PTPRN_ENST00000423636.2_Missense_Mutation_p.G726S|AC114803.3_ENST00000417355.1_RNA|MIR153-1_ENST00000384914.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.G787S|PTPRN_ENST00000497977.1_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	816	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)		TGCTTGACACCATCCTCCACC	0.602																																						dbGAP											0													155.0	132.0	140.0					2																	220161010		2203	4300	6503	-	-	-	SO:0001583	missense	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.2446G>A	2.37:g.220161010C>T	ENSP00000295718:p.Gly816Ser		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	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.G816S	ENST00000295718.2	37	c.2446	CCDS2440.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.894148|4.894148	0.91889|0.91889	.|.	.|.	ENSG00000054356|ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666|ENST00000443981	T;T;T|.	0.17854|.	2.25;2.25;2.25|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74764|0.74764	0.3759|0.3759	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	P;P|.	0.52692|.	0.881;0.955|.	P;D|.	0.64042|.	0.772;0.921|.	T|T	0.76176|0.76176	-0.3055|-0.3055	10|5	0.36615|.	T|.	0.2|.	.|.	12.5324|12.5324	0.56122|0.56122	0.0:0.9171:0.0:0.0829|0.0:0.9171:0.0:0.0829	.|.	787;816|.	Q6NSL1;Q16849|.	.;PTPRN_HUMAN|.	S|I	787;816;787;726|18	ENSP00000386638:G787S;ENSP00000295718:G816S;ENSP00000444244:G726S|.	ENSP00000295718:G816S|.	G|M	-|-	1|3	0|0	PTPRN|PTPRN	219869254|219869254	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	3.714000|3.714000	0.54889|0.54889	2.575000|2.575000	0.86900|0.86900	0.655000|0.655000	0.94253|0.94253	GGT|ATG	PTPRN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000054356		0.602	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRN	HGNC	protein_coding	OTTHUMT00000256819.2	175	0.00	0	C			220161010	220161010	-1	no_errors	ENST00000295718	ensembl	human	known	69_37n	missense	92	32.61	45	SNP	1.000	T
PYROXD2	84795	genome.wustl.edu	37	10	100150365	100150365	+	Missense_Mutation	SNP	G	G	A	rs17856170		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:100150365G>A	ENST00000370575.4	-	12	1330	c.1282C>T	c.(1282-1284)Cct>Tct	p.P428S	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	428			P -> S (in dbSNP:rs17856170). {ECO:0000269|PubMed:15489334}.				oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTGTGGGAAGGCAGGCCATCC	0.607																																						dbGAP											0													101.0	88.0	93.0					10																	100150365		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1282C>T	10.37:g.100150365G>A	ENSP00000359607:p.Pro428Ser		D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase	p.P428S	ENST00000370575.4	37	c.1282	CCDS7474.1	10	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892192	0.33442	.	.	ENSG00000119943	ENST00000370575	T	0.28895	1.59	4.97	4.97	0.65823	.	0.100658	0.64402	D	0.000001	T	0.32406	0.0828	M	0.66439	2.03	0.80722	D	1	B	0.19200	0.034	B	0.12156	0.007	T	0.24404	-1.0161	10	0.09084	T	0.74	-18.5042	17.8394	0.88711	0.0:0.0:1.0:0.0	rs17856170;rs17856170	428	Q8N2H3	PYRD2_HUMAN	S	428	ENSP00000359607:P428S	ENSP00000359607:P428S	P	-	1	0	PYROXD2	100140355	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	8.884000	0.92432	2.314000	0.78098	0.563000	0.77884	CCT	PYROXD2	-	NULL	ENSG00000119943		0.607	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD2	HGNC	protein_coding	OTTHUMT00000049782.2	73	0.00	0	G	NM_032709		100150365	100150365	-1	no_errors	ENST00000370575	ensembl	human	known	69_37n	missense	67	12.99	10	SNP	1.000	A
R3HDM1	23518	genome.wustl.edu	37	2	136362426	136362426	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:136362426C>T	ENST00000264160.4	+	3	381	c.11C>T	c.(10-12)tCt>tTt	p.S4F	R3HDM1_ENST00000409478.1_Missense_Mutation_p.S4F|R3HDM1_ENST00000329971.3_Missense_Mutation_p.S4F|R3HDM1_ENST00000409606.1_Missense_Mutation_p.S4F|R3HDM1_ENST00000410054.1_Intron	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	4							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATGAGGATGTCTGATACTGTT	0.318																																						dbGAP											0													70.0	74.0	73.0					2																	136362426		2203	4300	6503	-	-	-	SO:0001583	missense	0			D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.11C>T	2.37:g.136362426C>T	ENSP00000264160:p.Ser4Phe		A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.S4F	ENST00000264160.4	37	c.11	CCDS2177.1	2	.	.	.	.	.	.	.	.	.	.	C	23.5	4.428360	0.83667	.	.	ENSG00000048991	ENST00000422577;ENST00000409478;ENST00000264160;ENST00000329971;ENST00000436436;ENST00000409606	T;T;T;T	0.43688	0.95;1.25;0.94;1.25	5.74	5.74	0.90152	.	0.145674	0.48767	D	0.000173	T	0.52917	0.1764	L	0.58101	1.795	0.44006	D	0.996712	P;P	0.50710	0.938;0.938	P;P	0.49226	0.603;0.603	T	0.55598	-0.8116	10	0.87932	D	0	-11.0309	19.9145	0.97053	0.0:1.0:0.0:0.0	.	4;4	E9PBB4;Q15032	.;R3HD1_HUMAN	F	4	ENSP00000386457:S4F;ENSP00000264160:S4F;ENSP00000331396:S4F;ENSP00000387010:S4F	ENSP00000264160:S4F	S	+	2	0	R3HDM1	136078896	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.989000	0.70587	2.707000	0.92482	0.557000	0.71058	TCT	R3HDM1	-	NULL	ENSG00000048991		0.318	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM1	HGNC	protein_coding	OTTHUMT00000254659.1	71	0.00	0	C	NM_015361		136362426	136362426	+1	no_errors	ENST00000264160	ensembl	human	known	69_37n	missense	115	17.27	24	SNP	1.000	T
RAB11FIP1	80223	genome.wustl.edu	37	8	37732546	37732546	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:37732546G>A	ENST00000330843.4	-	3	1121	c.1109C>T	c.(1108-1110)gCt>gTt	p.A370V	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.A370V|RAB11FIP1_ENST00000523182.1_5'Flank|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.A222V|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.A222V	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	370					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			ACCTCCTTCAGCAGGCTCCTT	0.577																																						dbGAP											0													73.0	77.0	76.0					8																	37732546		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1109C>T	8.37:g.37732546G>A	ENSP00000331342:p.Ala370Val		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	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.A370V	ENST00000330843.4	37	c.1109	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	13.32	2.202347	0.38905	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000522727;ENST00000524118	T;T;T;T	0.31247	2.24;2.72;1.51;1.5	4.81	1.95	0.26073	.	0.396266	0.24178	N	0.040823	T	0.15522	0.0374	N	0.22421	0.69	0.09310	N	0.999999	B;B;P;B	0.39216	0.272;0.02;0.664;0.072	B;B;B;B	0.38500	0.067;0.025;0.275;0.016	T	0.09164	-1.0687	10	0.34782	T	0.22	-8.8997	0.8182	0.01106	0.1626:0.3711:0.1754:0.2909	.	222;222;370;370	E7EX40;Q6WKZ4-2;Q6WKZ4-3;Q6WKZ4	.;.;.;RFIP1_HUMAN	V	370;370;222;222	ENSP00000287263:A370V;ENSP00000331342:A370V;ENSP00000430009:A222V;ENSP00000430680:A222V	ENSP00000287263:A370V	A	-	2	0	RAB11FIP1	37851704	0.000000	0.05858	0.333000	0.25482	0.421000	0.31385	0.228000	0.17814	0.086000	0.17137	-0.344000	0.07964	GCT	RAB11FIP1	-	NULL	ENSG00000156675		0.577	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	148	0.00	0	G	NM_025151		37732546	37732546	-1	no_errors	ENST00000330843	ensembl	human	known	69_37n	missense	180	15.89	34	SNP	0.291	A
RAB11FIP1	80223	genome.wustl.edu	37	8	37735006	37735006	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:37735006G>A	ENST00000330843.4	-	2	447	c.435C>T	c.(433-435)gaC>gaT	p.D145D	RAB11FIP1_ENST00000287263.4_Silent_p.D145D|RAB11FIP1_ENST00000522727.1_5'UTR|RAB11FIP1_ENST00000524118.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	145					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TAAACTGGATGTCAACCTCAA	0.428																																						dbGAP											0													189.0	163.0	172.0					8																	37735006		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.435C>T	8.37:g.37735006G>A			J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Silent	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.D145	ENST00000330843.4	37	c.435	CCDS34882.1	8																																																																																			RAB11FIP1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000156675		0.428	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	241	0.00	0	G	NM_025151		37735006	37735006	-1	no_errors	ENST00000330843	ensembl	human	known	69_37n	silent	183	11.17	23	SNP	1.000	A
RAB26	25837	genome.wustl.edu	37	16	2201891	2201891	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:2201891C>T	ENST00000210187.6	+	5	610	c.450C>T	c.(448-450)gcC>gcT	p.A150A	RAB26_ENST00000541451.1_Silent_p.A84A|RP11-304L19.5_ENST00000563192.1_lincRNA	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	150					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)			kidney(1)|large_intestine(1)|lung(3)	5						CCAACAAGGCCTCCTTTGACA	0.602																																						dbGAP											0													83.0	72.0	76.0					16																	2201891		2197	4299	6496	-	-	-	SO:0001819	synonymous_variant	0			AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"""RAB, member RAS oncogene"""	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.450C>T	16.37:g.2201891C>T			B2RAA6|Q3L6K5|Q6NXS7	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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.A150	ENST00000210187.6	37	c.450	CCDS10460.1	16																																																																																			RAB26	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000167964		0.602	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB26	HGNC	protein_coding	OTTHUMT00000250767.2	14	0.00	0	C			2201891	2201891	+1	no_errors	ENST00000210187	ensembl	human	known	69_37n	silent	61	74.04	174	SNP	0.988	T
RAB38	23682	genome.wustl.edu	37	11	87908545	87908545	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:87908545G>A	ENST00000243662.6	-	1	90	c.8C>T	c.(7-9)gCc>gTc	p.A3V	MIR3166_ENST00000577344.1_RNA	NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	3					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)				CTTGTGCGGGGCCTGCATCCT	0.632																																						dbGAP											0													62.0	53.0	56.0					11																	87908545		2201	4299	6500	-	-	-	SO:0001583	missense	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.8C>T	11.37:g.87908545G>A	ENSP00000243662:p.Ala3Val		Q53XK7	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.A3V	ENST00000243662.6	37	c.8	CCDS8281.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.639|9.639	1.138444|1.138444	0.21123|0.21123	.|.	.|.	ENSG00000123892|ENSG00000123892	ENST00000243662|ENST00000526372	T|.	0.71103|.	-0.54|.	5.09|5.09	-1.77|-1.77	0.07982|0.07982	.|.	0.795759|.	0.12054|.	N|.	0.503826|.	T|T	0.21267|0.21267	0.0512|0.0512	L|L	0.34521|0.34521	1.04|1.04	0.21355|0.21355	N|N	0.999712|0.999712	B|.	0.21688|.	0.059|.	B|.	0.17979|.	0.02|.	T|T	0.26430|0.26430	-1.0103|-1.0103	9|5	.|.	.|.	.|.	-15.3675|-15.3675	0.1811|0.1811	0.00124|0.00124	0.3324:0.194:0.2377:0.2359|0.3324:0.194:0.2377:0.2359	.|.	3|.	P57729|.	RAB38_HUMAN|.	V|S	3|20	ENSP00000243662:A3V|.	.|.	A|P	-|-	2|1	0|0	RAB38|RAB38	87548193|87548193	0.998000|0.998000	0.40836|0.40836	0.590000|0.590000	0.28732|0.28732	0.001000|0.001000	0.01503|0.01503	0.431000|0.431000	0.21444|0.21444	-0.157000|-0.157000	0.11059|0.11059	-1.785000|-1.785000	0.00643|0.00643	GCC|CCC	RAB38	-	NULL	ENSG00000123892		0.632	RAB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB38	HGNC	protein_coding	OTTHUMT00000394015.2	35	0.00	0	G			87908545	87908545	-1	no_errors	ENST00000243662	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	0.815	A
RAB3GAP2	25782	genome.wustl.edu	37	1	220326535	220326535	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:220326535C>T	ENST00000358951.2	-	33	3975	c.3859G>A	c.(3859-3861)Gga>Aga	p.G1287R		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	1287					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)		ACCTCTTCTCCTAAGTGGTCA	0.378																																						dbGAP											0													149.0	142.0	144.0					1																	220326535		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.3859G>A	1.37:g.220326535C>T	ENSP00000351832:p.Gly1287Arg		A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.G1287R	ENST00000358951.2	37	c.3859	CCDS31028.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.382272	0.95967	.	.	ENSG00000118873	ENST00000358951	T	0.33438	1.41	6.03	6.03	0.97812	.	0.158985	0.53938	D	0.000048	T	0.48892	0.1525	L	0.42245	1.32	0.47778	D	0.99951	D;D	0.64830	0.994;0.994	P;P	0.61800	0.894;0.894	T	0.38200	-0.9672	10	0.87932	D	0	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1287;1287	Q9H2M9;A6H8V0	RBGPR_HUMAN;.	R	1287	ENSP00000351832:G1287R	ENSP00000351832:G1287R	G	-	1	0	RAB3GAP2	218393158	1.000000	0.71417	0.857000	0.33713	0.984000	0.73092	6.572000	0.74005	2.861000	0.98227	0.655000	0.94253	GGA	RAB3GAP2	-	NULL	ENSG00000118873		0.378	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	223	0.00	0	C	NM_012414		220326535	220326535	-1	no_errors	ENST00000358951	ensembl	human	known	69_37n	missense	173	15.61	32	SNP	0.991	T
RAD51B	5890	genome.wustl.edu	37	14	69117535	69117535	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:69117535G>A	ENST00000488612.1	+	11	1101	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q	RAD51B_ENST00000390683.3_Silent_p.Q358Q			O15315	RA51B_HUMAN	RAD51 paralog B	0					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						tctcaatccagaacagactaa	0.373								Direct reversal of damage																														dbGAP											0													22.0	23.0	23.0					14																	69117535		876	1990	2866	-	-	-	SO:0001819	synonymous_variant	0			U84138	CCDS9789.1, CCDS9790.1	14q23-q24.2	2013-07-02	2013-07-02	2011-07-01	ENSG00000182185	ENSG00000182185			9822	protein-coding gene	gene with protein product		602948	"""RAD51 (S. cerevisiae)-like 1"", ""RAD51-like 1 (S. cerevisiae)"", ""RAD51 homolog B (S. cerevisiae)"""	RAD51L1		6261043, 9207106	Standard	NM_002877		Approved	REC2, hREC2, R51H2	uc001xkf.2	O15315	OTTHUMG00000157530	ENST00000488612.1:c.1074G>A	14.37:g.69117535G>A			O60914|O75210|Q3Y4F8|Q6FHX8|Q86SY3|Q86SY4|Q86TR0|Q86U92|Q86U93|Q86U94|Q8N6H4|Q9UPL5	Silent	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.Q358	ENST00000488612.1	37	c.1074		14																																																																																			RAD51B	-	NULL	ENSG00000182185		0.373	RAD51B-005	KNOWN	basic	protein_coding	RAD51B	HGNC	protein_coding	OTTHUMT00000349064.1	49	0.00	0	G			69117535	69117535	+1	no_errors	ENST00000390683	ensembl	human	known	69_37n	silent	17	22.73	5	SNP	0.010	A
RAG1	5896	genome.wustl.edu	37	11	36595756	36595756	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:36595756C>A	ENST00000299440.5	+	2	1014	c.902C>A	c.(901-903)gCt>gAt	p.A301D		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	301					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)				CACATTCTGGCTGACCCTGTG	0.488									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	dbGAP											0													98.0	88.0	92.0					11																	36595756		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.902C>A	11.37:g.36595756C>A	ENSP00000299440:p.Ala301Asp		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.A301D	ENST00000299440.5	37	c.902	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932303	0.73442	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.86432	-2.12;-2.12	5.75	5.75	0.90469	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.257949	0.39210	N	0.001424	D	0.86682	0.5991	N	0.03253	-0.375	0.47123	D	0.999324	D	0.89917	1.0	D	0.85130	0.997	D	0.90615	0.4555	10	0.87932	D	0	.	20.0116	0.97452	0.0:1.0:0.0:0.0	.	301	P15918	RAG1_HUMAN	D	301	ENSP00000434610:A301D;ENSP00000299440:A301D	ENSP00000299440:A301D	A	+	2	0	RAG1	36552332	1.000000	0.71417	0.955000	0.39395	0.842000	0.47809	4.507000	0.60434	2.742000	0.94016	0.650000	0.86243	GCT	RAG1	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000166349		0.488	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	184	0.00	0	C	NM_000448		36595756	36595756	+1	no_errors	ENST00000299440	ensembl	human	known	69_37n	missense	80	25.23	27	SNP	0.998	A
RAN	5901	genome.wustl.edu	37	12	131359146	131359146	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:131359146G>A	ENST00000543796.1	+	5	561	c.303G>A	c.(301-303)gtG>gtA	p.V101V	RAN_ENST00000392367.3_Silent_p.V118V|RAN_ENST00000392369.2_Silent_p.V101V|RAN_ENST00000541630.1_Silent_p.V13V|RAN_ENST00000254675.3_Silent_p.V13V			P62826	RAN_HUMAN	RAN, member RAS oncogene family	101					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|cellular protein complex localization (GO:0034629)|DNA metabolic process (GO:0006259)|gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	Lung NSC(355;7.46e-07)|all_epithelial(31;7.36e-06)		OV - Ovarian serous cystadenocarcinoma(86;9.18e-49)|Epithelial(86;1.42e-45)|all cancers(50;6.28e-40)		ACAAGAATGTGCCTAACTGGC	0.413																																						dbGAP											0													131.0	110.0	117.0					12																	131359146		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M31469	CCDS9271.1, CCDS73546.1	12q24.33	2014-05-09			ENSG00000132341	ENSG00000132341			9846	protein-coding gene	gene with protein product		601179				8421051	Standard	XM_005253592		Approved	ARA24, TC4, Gsp1	uc001uir.3	P62826	OTTHUMG00000134328	ENST00000543796.1:c.303G>A	12.37:g.131359146G>A			A8K3Z8|P17080|P28746|P28747|Q6IPB2|Q86V08|Q8NI90|Q9CSP3|Q9CWI7|Q9CZA2|Q9UDJ5|Q9UEU9	Silent	SNP	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_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.V101	ENST00000543796.1	37	c.303	CCDS9271.1	12																																																																																			RAN	-	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_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000132341		0.413	RAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAN	HGNC	protein_coding	OTTHUMT00000259441.2	80	0.00	0	G	NM_006325		131359146	131359146	+1	no_errors	ENST00000392369	ensembl	human	known	69_37n	silent	72	11.11	9	SNP	1.000	A
RAPGEF5	9771	genome.wustl.edu	37	7	22233010	22233010	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:22233010C>T	ENST00000401957.2	-	1	517	c.270G>A	c.(268-270)ctG>ctA	p.L90L	RAPGEF5_ENST00000475788.1_5'UTR|RAPGEF5_ENST00000344041.6_Silent_p.L240L|RAPGEF5_ENST00000405243.1_3'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	90	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GGACTTCTTCCAGGTGCAAGT	0.522																																						dbGAP											0													91.0	91.0	91.0					7																	22233010		1919	4142	6061	-	-	-	SO:0001819	synonymous_variant	0			D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.270G>A	7.37:g.22233010C>T			A4D140|Q8IXU5	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L240	ENST00000401957.2	37	c.720		7																																																																																			RAPGEF5	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000136237		0.522	RAPGEF5-001	KNOWN	basic	protein_coding	RAPGEF5	HGNC	protein_coding	OTTHUMT00000326590.2	12	0.00	0	C	NM_012294		22233010	22233010	-1	no_errors	ENST00000344041	ensembl	human	known	69_37n	silent	18	33.33	9	SNP	1.000	T
RARB	5915	genome.wustl.edu	37	3	25622072	25622072	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:25622072G>A	ENST00000404969.1	+	5	666	c.666G>A	c.(664-666)ctG>ctA	p.L222L	RARB_ENST00000458646.1_Silent_p.L103L|RARB_ENST00000330688.4_Silent_p.L215L|RARB_ENST00000437042.2_Silent_p.L103L|RARB_ENST00000462272.1_3'UTR			P10826	RARB_HUMAN	retinoic acid receptor, beta	222	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GACTGGACCTGGGCCTCTGGG	0.493																																						dbGAP											0													115.0	104.0	108.0					3																	25622072		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.666G>A	3.37:g.25622072G>A			P12891|Q00989|Q15298|Q9UN48	Silent	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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.L222	ENST00000404969.1	37	c.666		3																																																																																			RARB	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000077092		0.493	RARB-201	KNOWN	basic	protein_coding	RARB	HGNC	protein_coding		98	0.00	0	G	NM_000965, NM_016152		25622072	25622072	+1	no_errors	ENST00000404969	ensembl	human	known	69_37n	silent	78	11.36	10	SNP	1.000	A
RASL11A	387496	genome.wustl.edu	37	13	27847233	27847233	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:27847233C>T	ENST00000241463.4	+	4	949	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	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)		GGGTTTTCTGCTGGTCTATTC	0.512																																						dbGAP											0													141.0	118.0	126.0					13																	27847233		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.331C>T	13.37:g.27847233C>T				Silent	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.L111	ENST00000241463.4	37	c.331	CCDS9321.1	13																																																																																			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		0.512	RASL11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL11A	HGNC	protein_coding	OTTHUMT00000044265.2	97	0.00	0	C	NM_206827		27847233	27847233	+1	no_errors	ENST00000241463	ensembl	human	known	69_37n	silent	67	19.28	16	SNP	0.996	T
RBM15	64783	genome.wustl.edu	37	1	110882589	110882589	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:110882589G>A	ENST00000369784.3	+	1	1462	c.562G>A	c.(562-564)Gac>Aac	p.D188N	RBM15_ENST00000487146.2_Missense_Mutation_p.D188N|RBM15_ENST00000602849.1_Missense_Mutation_p.D188N|RP5-1074L1.1_ENST00000449169.1_RNA	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	188	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGCGGTGGAGGACGGCCTGTT	0.582			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0													74.0	77.0	76.0					1																	110882589		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.562G>A	1.37:g.110882589G>A	ENSP00000358799:p.Asp188Asn	1430	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D188N	ENST00000369784.3	37	c.562	CCDS822.1	1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.048008	0.93740	.	.	ENSG00000162775	ENST00000369784	T	0.46819	0.86	5.21	5.21	0.72293	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.49305	D	0.000145	T	0.64416	0.2596	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.992	T	0.67173	-0.5737	10	0.87932	D	0	-12.7583	18.5182	0.90942	0.0:0.0:1.0:0.0	.	188;188	Q96T37-3;Q96T37	.;RBM15_HUMAN	N	188	ENSP00000358799:D188N	ENSP00000358799:D188N	D	+	1	0	RBM15	110684112	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.930000	0.92872	2.706000	0.92434	0.655000	0.94253	GAC	RBM15	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000162775		0.582	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	37	0.00	0	G	NM_022768		110882589	110882589	+1	no_errors	ENST00000369784	ensembl	human	known	69_37n	missense	47	48.91	45	SNP	1.000	A
RBM47	54502	genome.wustl.edu	37	4	40440209	40440209	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:40440209C>T	ENST00000381793.2	-	3	1098	c.702G>A	c.(700-702)gaG>gaA	p.E234E	RBM47_ENST00000514014.1_Silent_p.E196E|RBM47_ENST00000295971.7_Silent_p.E234E|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.E234E|RBM47_ENST00000319592.4_Silent_p.E234E			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	234					hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCACGTCGATCTCAGGTTCGG	0.637																																						dbGAP											0													108.0	87.0	94.0					4																	40440209		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.702G>A	4.37:g.40440209C>T			A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E234	ENST00000381793.2	37	c.702	CCDS43223.1	4																																																																																			RBM47	-	tigrfam_HnRNP_R/Q_splicing_fac	ENSG00000163694		0.637	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM47	HGNC	protein_coding	OTTHUMT00000250456.2	62	0.00	0	C	NM_019027		40440209	40440209	-1	no_errors	ENST00000295971	ensembl	human	known	69_37n	silent	77	26.67	28	SNP	1.000	T
RCC2	55920	genome.wustl.edu	37	1	17743035	17743035	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:17743035G>A	ENST00000375436.4	-	8	1154	c.967C>T	c.(967-969)Cag>Tag	p.Q323*	RCC2_ENST00000375433.3_Nonsense_Mutation_p.Q323*|AC004824.1_ENST00000583469.1_RNA	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	323					chromosome passenger complex localization to kinetochore (GO:0072356)|endosome organization (GO:0007032)|focal adhesion assembly (GO:0048041)|integrin-mediated signaling pathway (GO:0007229)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of GTPase activity (GO:0034260)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|regulation of cell migration (GO:0030334)	chromosome, centromeric core domain (GO:0034506)|cytosol (GO:0005829)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|Rac GTPase binding (GO:0048365)			breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GGCAGAATCTGTCCATCTTTC	0.557																																						dbGAP											0													120.0	94.0	103.0					1																	17743035		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS181.1	1p36.13	2010-05-05			ENSG00000179051	ENSG00000179051			30297	protein-coding gene	gene with protein product		609587				10819331, 12919680	Standard	NM_018715		Approved	TD-60	uc001bal.3	Q9P258	OTTHUMG00000002513	ENST00000375436.4:c.967C>T	1.37:g.17743035G>A	ENSP00000364585:p.Gln323*		Q8IVL9|Q9BSN6|Q9NPV8	Nonsense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.Q323*	ENST00000375436.4	37	c.967	CCDS181.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.302493	0.98196	.	.	ENSG00000179051	ENST00000375436;ENST00000375433	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-23.4843	18.4435	0.90676	0.0:0.0:1.0:0.0	.	.	.	.	X	323	.	ENSP00000364582:Q323X	Q	-	1	0	RCC2	17615622	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.772000	0.85439	2.778000	0.95560	0.655000	0.94253	CAG	RCC2	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000179051		0.557	RCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCC2	HGNC	protein_coding	OTTHUMT00000007144.1	54	0.00	0	G	NM_018715		17743035	17743035	-1	no_errors	ENST00000375433	ensembl	human	known	69_37n	nonsense	36	18.18	8	SNP	1.000	A
RCN2	5955	genome.wustl.edu	37	15	77227866	77227867	+	Splice_Site	INS	-	-	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:77227866_77227867insT	ENST00000394885.3	+	3	473_474		c.e3-1		RCN2_ENST00000320963.5_Splice_Site|RCN2_ENST00000394883.3_Intron	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain							endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						AATTCTCATAGGTGAACTCAGT	0.347																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.251-1->T	15.37:g.77227866_77227867insT			A8MTG6|F8WCY5|Q53XN8	Frame_Shift_Ins	INS	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S84fs	ENST00000394885.3	37	c.252_251	CCDS10291.1	15																																																																																			RCN2	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000117906		0.347	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	RCN2	HGNC	protein_coding	OTTHUMT00000289795.1	51	0.00	0	-	NM_002902	Intron	77227866	77227867	+1	no_errors	ENST00000394885	ensembl	human	known	69_37n	frame_shift_ins	52	28.77	21	INS	1.000:1.000	T
RCN2	5955	genome.wustl.edu	37	15	77227868	77227868	+	Splice_Site	SNP	T	T	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:77227868T>A	ENST00000394885.3	+	3	475	c.252T>A	c.(250-252)agT>agA	p.S84R	RCN2_ENST00000320963.5_Splice_Site_p.S84R|RCN2_ENST00000394883.3_Intron	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	84	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						TTCTCATAGGTGAACTCAGTT	0.348																																						dbGAP											0													108.0	100.0	103.0					15																	77227868		2196	4294	6490	-	-	-	SO:0001630	splice_region_variant	0			X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.251-1T>A	15.37:g.77227868T>A			A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.S84R	ENST00000394885.3	37	c.252	CCDS10291.1	15	.	.	.	.	.	.	.	.	.	.	T	12.25	1.883097	0.33255	.	.	ENSG00000117906	ENST00000394885;ENST00000320963	T;T	0.55760	0.5;0.5	5.47	1.96	0.26148	EF-hand-like domain (1);	0.262826	0.43416	D	0.000565	T	0.37517	0.1006	L	0.45352	1.415	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.10800	-1.0614	10	0.30078	T	0.28	.	4.9966	0.14243	0.0:0.2211:0.2634:0.5155	.	84;84	F8WCY5;Q14257	.;RCN2_HUMAN	R	84	ENSP00000378349:S84R;ENSP00000319739:S84R	ENSP00000319739:S84R	S	+	3	2	RCN2	75014923	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	0.457000	0.21875	0.378000	0.24764	0.482000	0.46254	AGT	RCN2	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000117906		0.348	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	RCN2	HGNC	protein_coding	OTTHUMT00000289795.1	51	0.00	0	T	NM_002902	Missense_Mutation	77227868	77227868	+1	no_errors	ENST00000394885	ensembl	human	known	69_37n	missense	52	30.67	23	SNP	0.999	A
RDH5	5959	genome.wustl.edu	37	12	56118263	56118263	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:56118263G>A	ENST00000257895.5	+	5	1043	c.891G>A	c.(889-891)ctG>ctA	p.L297L	RDH5_ENST00000547072.1_Silent_p.L200L|RDH5_ENST00000548082.1_Silent_p.L297L|RP11-644F5.10_ENST00000550412.1_3'UTR	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	297					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	CCTCCTACCTGCCAGCCAGCC	0.607											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													94.0	87.0	90.0					12																	56118263		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.891G>A	12.37:g.56118263G>A		1013	O00179|Q8TAI2	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.L297	ENST00000257895.5	37	c.891	CCDS31829.1	12																																																																																			RDH5	-	NULL	ENSG00000135437		0.607	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH5	HGNC	protein_coding	OTTHUMT00000407493.1	70	0.00	0	G	NM_002905		56118263	56118263	+1	no_errors	ENST00000257895	ensembl	human	known	69_37n	silent	68	18.07	15	SNP	1.000	A
RELN	5649	genome.wustl.edu	37	7	103205745	103205745	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:103205745G>A	ENST00000428762.1	-	34	5349	c.5190C>T	c.(5188-5190)gtC>gtT	p.V1730V	RELN_ENST00000343529.5_Silent_p.V1730V|RELN_ENST00000424685.2_Silent_p.V1730V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1730					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)		GTGGAAGGTAGACAGTGATCC	0.448																																					NSCLC(146;835 1944 15585 22231 52158)	dbGAP											0													117.0	106.0	110.0					7																	103205745		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.5190C>T	7.37:g.103205745G>A			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	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.V1730	ENST00000428762.1	37	c.5190	CCDS47680.1	7																																																																																			RELN	-	superfamily_Neuraminidase	ENSG00000189056		0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	154	0.00	0	G	NM_005045		103205745	103205745	-1	no_errors	ENST00000424685	ensembl	human	known	69_37n	silent	125	11.89	17	SNP	1.000	A
REPS2	9185	genome.wustl.edu	37	X	17065588	17065588	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:17065588C>T	ENST00000357277.3	+	6	1061	c.890C>T	c.(889-891)cCa>cTa	p.P297L	REPS2_ENST00000380064.4_Missense_Mutation_p.P157L|REPS2_ENST00000303843.7_Missense_Mutation_p.P296L|SNORA16_ENST00000364597.1_RNA	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	297	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CAGCCAGACCCAAGCTCTTTC	0.478																																						dbGAP											0													193.0	161.0	172.0					X																	17065588		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.890C>T	X.37:g.17065588C>T	ENSP00000349824:p.Pro297Leu		A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.P297L	ENST00000357277.3	37	c.890	CCDS14180.2	X	.	.	.	.	.	.	.	.	.	.	C	10.13	1.264490	0.23136	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843;ENST00000380064	T;T;T	0.29397	1.57;1.57;1.57	5.56	4.47	0.54385	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.111366	0.40302	N	0.001134	T	0.09247	0.0228	N	0.01779	-0.725	0.54753	D	0.99998	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.17433	0.018;0.0;0.018	T	0.27739	-1.0065	10	0.09843	T	0.71	-12.4868	4.2616	0.10744	0.0:0.6678:0.0:0.3322	.	157;296;297	B4DQQ8;Q8NFH8-4;Q8NFH8	.;.;REPS2_HUMAN	L	297;297;296;157	ENSP00000349824:P297L;ENSP00000306033:P296L;ENSP00000369404:P157L	ENSP00000306033:P296L	P	+	2	0	REPS2	16975509	1.000000	0.71417	0.685000	0.30070	0.716000	0.41182	5.202000	0.65169	2.471000	0.83476	0.600000	0.82982	CCA	REPS2	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000169891		0.478	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REPS2	HGNC	protein_coding	OTTHUMT00000316778.1	478	0.21	1	C	NM_004726		17065588	17065588	+1	no_errors	ENST00000357277	ensembl	human	known	69_37n	missense	274	12.74	40	SNP	0.989	T
REV1	51455	genome.wustl.edu	37	2	100029360	100029360	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:100029360C>T	ENST00000258428.3	-	13	2233	c.2005G>A	c.(2005-2007)Gga>Aga	p.G669R	REV1_ENST00000393445.3_Missense_Mutation_p.G668R|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	669					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCAAGTCTCCACAAGTTTTA	0.393								Direct reversal of damage																														dbGAP											0													92.0	88.0	89.0					2																	100029360		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2005G>A	2.37:g.100029360C>T	ENSP00000258428:p.Gly669Arg		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.G669R	ENST00000258428.3	37	c.2005	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520017	0.85495	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.72835	-0.69;-0.69	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	0.993;1.0	P;D	0.74023	0.844;0.982	T	0.79401	-0.1819	10	0.28530	T	0.3	.	19.1028	0.93281	0.0:1.0:0.0:0.0	.	669;668	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	R	668;669	ENSP00000377091:G668R;ENSP00000258428:G669R	ENSP00000258428:G669R	G	-	1	0	REV1	99395792	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.107000	0.77047	2.582000	0.87167	0.558000	0.71614	GGA	REV1	-	pirsf_REV1	ENSG00000135945		0.393	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	115	0.00	0	C	NM_016316		100029360	100029360	-1	no_errors	ENST00000258428	ensembl	human	known	69_37n	missense	95	29.63	40	SNP	1.000	T
RFX4	5992	genome.wustl.edu	37	12	107113818	107113819	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	CG	CG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:107113818_107113819delCG	ENST00000392842.1	+	12	1633_1634	c.1219_1220delCG	c.(1219-1221)cgcfs	p.R407fs	RP11-144F15.1_ENST00000551505.1_Intron|RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000357881.4_Frame_Shift_Del_p.R416fs|RFX4_ENST00000229387.5_Frame_Shift_Del_p.R313fs	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	407	Necessary for dimerization.				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						CATGGTTGACCGCTGTGTTGTG	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_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.1219_1220delCG	12.37:g.107113818_107113819delCG	ENSP00000376585:p.Arg407fs		A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Frame_Shift_Del	DEL	pfam_DNA-bd_RFX	p.R416fs	ENST00000392842.1	37	c.1246_1247	CCDS9106.1	12																																																																																			RFX4	-	NULL	ENSG00000111783		0.545	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	84	0.00	0	CG	NM_032491		107113818	107113819	+1	no_errors	ENST00000357881	ensembl	human	known	69_37n	frame_shift_del	72	13.25	11	DEL	1.000:1.000	-
RFX6	222546	genome.wustl.edu	37	6	117237382	117237382	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:117237382C>T	ENST00000332958.2	+	9	893	c.877C>T	c.(877-879)Cac>Tac	p.H293Y	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	293					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTTTTATTACACTTTTGGCA	0.318																																						dbGAP											0													132.0	129.0	130.0					6																	117237382		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.877C>T	6.37:g.117237382C>T	ENSP00000332208:p.His293Tyr		Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.H293Y	ENST00000332958.2	37	c.877	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.607860	0.87258	.	.	ENSG00000185002	ENST00000332958	T	0.58060	0.36	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69214	0.3086	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71758	-0.4496	10	0.87932	D	0	-20.023	19.6354	0.95731	0.0:1.0:0.0:0.0	.	293	Q8HWS3	RFX6_HUMAN	Y	293	ENSP00000332208:H293Y	ENSP00000332208:H293Y	H	+	1	0	RFX6	117344075	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.641000	0.89580	0.591000	0.81541	CAC	RFX6	-	NULL	ENSG00000185002		0.318	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	252	0.00	0	C	NM_173560		117237382	117237382	+1	no_errors	ENST00000332958	ensembl	human	known	69_37n	missense	172	11.34	22	SNP	1.000	T
RGS3	5998	genome.wustl.edu	37	9	116269578	116269578	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:116269578G>A	ENST00000374140.2	+	14	1306	c.1097G>A	c.(1096-1098)aGt>aAt	p.S366N	RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000343817.5_Missense_Mutation_p.S85N|RGS3_ENST00000350696.5_Missense_Mutation_p.S366N|RGS3_ENST00000317613.6_Missense_Mutation_p.S254N|RGS3_ENST00000394646.3_Missense_Mutation_p.S85N	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	366	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGCTGCCCCAGTGAGATCATC	0.622																																						dbGAP											0													35.0	32.0	33.0					9																	116269578		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1097G>A	9.37:g.116269578G>A	ENSP00000363255:p.Ser366Asn		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.S366N	ENST00000374140.2	37	c.1097	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	G	8.054	0.766536	0.15983	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.91	4.01	0.46588	PDZ/DHR/GLGF (4);	0.478997	0.26349	N	0.024889	T	0.19208	0.0461	L	0.28649	0.875	0.09310	N	0.999992	B;B;B;B;B	0.21452	0.0;0.009;0.019;0.056;0.02	B;B;B;B;B	0.25614	0.001;0.028;0.047;0.062;0.031	T	0.14008	-1.0488	10	0.23891	T	0.37	.	5.3808	0.16189	0.0782:0.1505:0.6334:0.1379	.	85;85;256;254;366	B3KUB2;P49796-4;B3KWG8;P49796-5;P49796	.;.;.;.;RGS3_HUMAN	N	366;366;254;85;85	ENSP00000363255:S366N;ENSP00000259406:S366N;ENSP00000312844:S254N;ENSP00000340284:S85N;ENSP00000378141:S85N	ENSP00000312844:S254N	S	+	2	0	RGS3	115309399	0.017000	0.18338	0.060000	0.19600	0.674000	0.39518	2.054000	0.41335	1.456000	0.47831	0.655000	0.94253	AGT	RGS3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000138835		0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	23	0.00	0	G	NM_017790		116269578	116269578	+1	no_errors	ENST00000350696	ensembl	human	known	69_37n	missense	14	68.18	30	SNP	0.045	A
RGS3	5998	genome.wustl.edu	37	9	116346018	116346018	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:116346018C>A	ENST00000374140.2	+	21	2535	c.2326C>A	c.(2326-2328)Ctc>Atc	p.L776I	RGS3_ENST00000343817.5_Missense_Mutation_p.L495I|RGS3_ENST00000350696.5_Missense_Mutation_p.L776I|RGS3_ENST00000374134.3_Missense_Mutation_p.L97I|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000342620.5_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000462143.1_Missense_Mutation_p.L97I	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	776	Pro-rich.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						AGCCCAAGACCTCTCACCCTG	0.622																																						dbGAP											0													117.0	120.0	119.0					9																	116346018		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2326C>A	9.37:g.116346018C>A	ENSP00000363255:p.Leu776Ile		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.L776I	ENST00000374140.2	37	c.2326	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785527	0.31593	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000474719;ENST00000462143;ENST00000374134	T;T;T;T;T	0.58060	0.89;0.89;0.39;0.36;0.36	4.97	1.99	0.26369	.	0.918721	0.09064	N	0.853855	T	0.34948	0.0915	N	0.19112	0.55	0.23677	N	0.997138	P;P;P;B;B;B	0.38078	0.617;0.465;0.617;0.012;0.018;0.085	B;B;B;B;B;B	0.33196	0.159;0.077;0.159;0.032;0.023;0.023	T	0.16482	-1.0401	10	0.62326	D	0.03	.	8.2352	0.31622	0.0:0.6174:0.2957:0.0869	.	115;672;97;495;666;776	B4DWF9;P49796-6;Q6ZV17;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	I	776;776;495;97;97;97	ENSP00000363255:L776I;ENSP00000259406:L776I;ENSP00000340284:L495I;ENSP00000420356:L97I;ENSP00000363249:L97I	ENSP00000340284:L495I	L	+	1	0	RGS3	115385839	0.001000	0.12720	0.000000	0.03702	0.896000	0.52359	0.775000	0.26689	0.320000	0.23234	0.655000	0.94253	CTC	RGS3	-	NULL	ENSG00000138835		0.622	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	131	0.00	0	C	NM_017790		116346018	116346018	+1	no_errors	ENST00000350696	ensembl	human	known	69_37n	missense	86	16.50	17	SNP	0.005	A
RHOBTB1	9886	genome.wustl.edu	37	10	62648543	62648543	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:62648543G>A	ENST00000337910.5	-	6	1220	c.883C>T	c.(883-885)Ctg>Ttg	p.L295L	RHOBTB1_ENST00000357917.4_Silent_p.L295L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	295	BTB 1. {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)			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATTAAAAACAGATCATAAAAT	0.443																																						dbGAP											0													75.0	80.0	78.0					10																	62648543		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.883C>T	10.37:g.62648543G>A				Silent	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.L295	ENST00000337910.5	37	c.883	CCDS7261.1	10																																																																																			RHOBTB1	-	superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000072422		0.443	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB1	HGNC	protein_coding	OTTHUMT00000048220.1	272	0.00	0	G			62648543	62648543	-1	no_errors	ENST00000337910	ensembl	human	known	69_37n	silent	321	23.75	100	SNP	1.000	A
RHOH	399	genome.wustl.edu	37	4	40245081	40245081	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:40245081C>T	ENST00000381799.5	+	3	799	c.75C>T	c.(73-75)acC>acT	p.T25T	RHOH_ENST00000505618.1_Silent_p.T25T	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	25					mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGCGCTTCACCTCCGAGACCT	0.582																																						dbGAP											0													195.0	151.0	166.0					4																	40245081		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.75C>T	4.37:g.40245081C>T				Silent	SNP	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	p.T25	ENST00000381799.5	37	c.75	CCDS3458.1	4																																																																																			RHOH	-	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	ENSG00000168421		0.582	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOH	HGNC	protein_coding	OTTHUMT00000216820.3	82	0.00	0	C	NM_004310		40245081	40245081	+1	no_errors	ENST00000381799	ensembl	human	known	69_37n	silent	103	12.71	15	SNP	0.995	T
RLF	6018	genome.wustl.edu	37	1	40702596	40702596	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:40702596C>T	ENST00000372771.4	+	8	2249	c.2222C>T	c.(2221-2223)cCt>cTt	p.P741L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	741					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|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)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGGCCTCAGCCTTATATGTGT	0.383																																						dbGAP											0													140.0	141.0	141.0					1																	40702596		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2222C>T	1.37:g.40702596C>T	ENSP00000361857:p.Pro741Leu		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P741L	ENST00000372771.4	37	c.2222	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.738885	0.69304	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.56444	0.46	6.17	6.17	0.99709	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.988;0.999	T	0.78191	-0.2300	10	0.87932	D	0	-14.6916	20.8794	0.99867	0.0:1.0:0.0:0.0	.	434;741	F5H2M5;Q13129	.;RLF_HUMAN	L	741;434	ENSP00000361857:P741L	ENSP00000361857:P741L	P	+	2	0	RLF	40475183	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	7.433000	0.80362	2.941000	0.99782	0.655000	0.94253	CCT	RLF	-	pfscan_Znf_C2H2	ENSG00000117000		0.383	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	167	0.60	1	C	NM_012421		40702596	40702596	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	missense	236	35.69	131	SNP	1.000	T
LINC01410	103352539	genome.wustl.edu	37	9	66458146	66458146	+	lincRNA	SNP	C	C	T	rs148666006		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:66458146C>T	ENST00000424345.1	+	0	67				RNA5SP283_ENST00000365604.1_RNA																							AAGCCAaaagcctacggtacc	0.627																																						dbGAP											0																																										-	-	-			0																															9.37:g.66458146C>T				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RNA5SP283	-	-	ENSG00000202474		0.627	RP11-262H14.1-001	KNOWN	basic	lincRNA	RNA5SP283	HGNC	lincRNA	OTTHUMT00000128851.1	15	0.00	0	C			66458146	66458146	-1	no_errors	ENST00000365604	ensembl	human	known	69_37n	rna	14	21.05	4	SNP	0.031	T
RND1	27289	genome.wustl.edu	37	12	49255887	49255887	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:49255887C>G	ENST00000309739.5	-	3	353	c.223G>C	c.(223-225)Gat>Cat	p.D75H		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	75					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						CGGACATTATCGTAGTAGGGA	0.507																																						dbGAP											0													150.0	128.0	135.0					12																	49255887		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.223G>C	12.37:g.49255887C>G	ENSP00000308461:p.Asp75His		A8K9P7	Missense_Mutation	SNP	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	p.D75H	ENST00000309739.5	37	c.223	CCDS8771.1	12	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761285	0.89932	.	.	ENSG00000172602	ENST00000309739	T	0.77489	-1.1	5.12	5.12	0.69794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89058	0.6607	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90102	0.4185	10	0.87932	D	0	-25.0937	17.8627	0.88786	0.0:1.0:0.0:0.0	.	75	Q92730	RND1_HUMAN	H	75	ENSP00000308461:D75H	ENSP00000308461:D75H	D	-	1	0	RND1	47542154	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.419000	0.80179	2.837000	0.97791	0.655000	0.94253	GAT	RND1	-	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	ENSG00000172602		0.507	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RND1	HGNC	protein_coding	OTTHUMT00000408915.1	42	0.00	0	C	NM_014470		49255887	49255887	-1	no_errors	ENST00000309739	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	1.000	G
RNF213	57674	genome.wustl.edu	37	17	78350117	78350117	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:78350117G>A	ENST00000582970.1	+	52	13345	c.13202G>A	c.(13201-13203)aGc>aAc	p.S4401N	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S4450N|RNF213_ENST00000336301.6_Missense_Mutation_p.S2474N	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4401					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)			GAAGCTGTGAGCAAATTCATT	0.423																																						dbGAP											0													164.0	149.0	154.0					17																	78350117		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.13202G>A	17.37:g.78350117G>A	ENSP00000464087:p.Ser4401Asn		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.S4401N	ENST00000582970.1	37	c.13202	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	2.364	-0.345864	0.05208	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.21543	2.0	5.47	0.818	0.18778	.	0.721535	0.13583	N	0.377185	T	0.04998	0.0134	N	0.00538	-1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40627	-0.9553	10	0.23302	T	0.38	.	6.0349	0.19702	0.582:0.1259:0.292:0.0	.	4450;2474	C9JCP4;Q63HN8	.;RN213_HUMAN	N	4401;4450;2474	ENSP00000338218:S2474N	ENSP00000338218:S2474N	S	+	2	0	RNF213	75964712	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.039000	0.13884	-0.144000	0.11314	-0.367000	0.07326	AGC	RNF213	-	NULL	ENSG00000173821		0.423	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	107	0.00	0	G	NM_020914		78350117	78350117	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	57	13.64	9	SNP	0.000	A
RP1L1	94137	genome.wustl.edu	37	8	10470385	10470385	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:10470385C>T	ENST00000382483.3	-	4	1446	c.1223G>A	c.(1222-1224)tGg>tAg	p.W408*		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	408					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)		GGGATTCGTCCAGATTTCATA	0.677																																						dbGAP											0													42.0	50.0	47.0					8																	10470385		1959	4136	6095	-	-	-	SO:0001587	stop_gained	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.1223G>A	8.37:g.10470385C>T	ENSP00000371923:p.Trp408*		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Nonsense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.W408*	ENST00000382483.3	37	c.1223	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	37	6.568275	0.97671	.	.	ENSG00000183638	ENST00000382483	.	.	.	4.92	4.92	0.64577	.	0.000000	0.31438	U	0.007660	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0631	17.1132	0.86681	0.0:1.0:0.0:0.0	.	.	.	.	X	408	.	ENSP00000371923:W408X	W	-	2	0	RP1L1	10507795	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	5.230000	0.65321	2.271000	0.75665	0.561000	0.74099	TGG	RP1L1	-	NULL	ENSG00000183638		0.677	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	21	0.00	0	C			10470385	10470385	-1	no_errors	ENST00000382483	ensembl	human	known	69_37n	nonsense	19	59.57	28	SNP	1.000	T
RPRD1B	58490	genome.wustl.edu	37	20	36718519	36718519	+	3'UTR	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:36718519C>T	ENST00000373433.4	+	0	1625				RPRD1B_ENST00000471511.1_3'UTR	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B						dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TTTTCTCCCACTTCATATTTT	0.398																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.*242C>T	20.37:g.36718519C>T			Q1WDE7|Q6PKF4	RNA	SNP	-	NULL	ENST00000373433.4	37	NULL	CCDS13301.1	20																																																																																			RPRD1B	-	-	ENSG00000101413		0.398	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPRD1B	HGNC	protein_coding	OTTHUMT00000079142.2	14	0.00	0	C	NM_021215		36718519	36718519	+1	no_errors	ENST00000471511	ensembl	human	known	69_37n	rna	22	35.29	12	SNP	0.019	T
RREB1	6239	genome.wustl.edu	37	6	7247180	7247181	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:7247180_7247181insC	ENST00000349384.6	+	11	4646_4647	c.4332_4333insC	c.(4333-4335)cccfs	p.P1445fs	RREB1_ENST00000379938.2_Frame_Shift_Ins_p.P1500fs|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379933.3_Frame_Shift_Ins_p.P1445fs	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1445					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)				AGGAGGAGAAGCCCCCCGAGAC	0.743																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_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.4338dupC	6.37:g.7247186_7247186dupC	ENSP00000305560:p.Pro1445fs		A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1501fs	ENST00000349384.6	37	c.4497_4498	CCDS34336.1	6																																																																																			RREB1	-	NULL	ENSG00000124782		0.743	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	HGNC	protein_coding	OTTHUMT00000352985.1	12	0.00	0	-			7247180	7247181	+1	no_errors	ENST00000379938	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.080:0.159	C
RTN2	6253	genome.wustl.edu	37	19	45997589	45997589	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:45997589C>T	ENST00000245923.4	-	4	884	c.649G>A	c.(649-651)Ggt>Agt	p.G217S	PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.G217S|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	217					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GACGGAGTACCGGCCTGGGGT	0.622																																						dbGAP											0													61.0	54.0	56.0					19																	45997589		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.649G>A	19.37:g.45997589C>T	ENSP00000245923:p.Gly217Ser		O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.G217S	ENST00000245923.4	37	c.649	CCDS12665.1	19	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919864	0.33908	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.40756	1.05;1.02	5.68	-11.3	0.00108	.	2.230900	0.01725	N	0.028540	T	0.13286	0.0322	N	0.08118	0	0.09310	N	1	P;B	0.43633	0.813;0.037	B;B	0.31016	0.123;0.002	T	0.25882	-1.0119	10	0.12103	T	0.63	18.6909	7.8207	0.29286	0.1293:0.2988:0.4953:0.0766	.	217;217	O75298-2;O75298	.;RTN2_HUMAN	S	217	ENSP00000345127:G217S;ENSP00000245923:G217S	ENSP00000245923:G217S	G	-	1	0	RTN2	50689429	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.597000	0.02089	-2.009000	0.00954	-1.131000	0.01979	GGT	RTN2	-	NULL	ENSG00000125744		0.622	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1	48	0.00	0	C	NM_005619		45997589	45997589	-1	no_errors	ENST00000245923	ensembl	human	known	69_37n	missense	28	53.33	32	SNP	0.000	T
RTN4IP1	84816	genome.wustl.edu	37	6	107019899	107019899	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:107019899C>T	ENST00000369063.3	-	9	1628	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q	RTN4IP1_ENST00000498091.1_5'UTR|RTN4IP1_ENST00000539449.1_3'UTR	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	388						mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		AGTCTTTCCTCGTGCGTGTCC	0.383																																						dbGAP											0													125.0	121.0	122.0					6																	107019899		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF336861	CCDS5056.1	6q21	2008-02-05			ENSG00000130347	ENSG00000130347			18647	protein-coding gene	gene with protein product		610502					Standard	NM_032730		Approved	NIMP	uc003prj.3	Q8WWV3	OTTHUMG00000015304	ENST00000369063.3:c.1163G>A	6.37:g.107019899C>T	ENSP00000358059:p.Arg388Gln		Q8N9B3|Q8WZ66|Q9BRA4	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.R388Q	ENST00000369063.3	37	c.1163	CCDS5056.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.208699	0.95069	.	.	ENSG00000130347	ENST00000369063	T	0.24538	1.85	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.23048	-1.0199	10	0.44086	T	0.13	-9.7092	18.7178	0.91682	0.0:1.0:0.0:0.0	.	388	Q8WWV3	RT4I1_HUMAN	Q	388	ENSP00000358059:R388Q	ENSP00000358059:R388Q	R	-	2	0	RTN4IP1	107126592	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.098000	0.57748	2.857000	0.98124	0.650000	0.86243	CGA	RTN4IP1	-	smart_PKS_ER	ENSG00000130347		0.383	RTN4IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTN4IP1	HGNC	protein_coding	OTTHUMT00000041673.1	129	0.00	0	C			107019899	107019899	-1	no_errors	ENST00000369063	ensembl	human	known	69_37n	missense	130	19.75	32	SNP	1.000	T
RUNX1T1	862	genome.wustl.edu	37	8	93088282	93088282	+	5'UTR	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:93088282C>T	ENST00000523629.1	-	0	453				RUNX1T1_ENST00000518844.1_5'UTR|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000360348.2_Intron|RUNX1T1_ENST00000265814.3_5'UTR|RUNX1T1_ENST00000520724.1_Intron|RUNX1T1_ENST00000436581.2_Intron	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)						fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGATATCATTCTCCACCAATC	0.403																																						dbGAP											0													186.0	177.0	180.0					8																	93088282		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.-2G>A	8.37:g.93088282C>T			B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	RNA	SNP	-	NULL	ENST00000523629.1	37	NULL	CCDS6256.1	8																																																																																			RUNX1T1	-	-	ENSG00000079102		0.403	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	HGNC	protein_coding	OTTHUMT00000377045.3	263	0.00	0	C	NM_004349, NM_175635		93088282	93088282	-1	no_errors	ENST00000518256	ensembl	human	known	69_37n	rna	229	13.91	37	SNP	1.000	T
S1PR1	1901	genome.wustl.edu	37	1	101705563	101705563	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:101705563G>A	ENST00000305352.6	+	2	1398	c.1023G>A	c.(1021-1023)aaG>aaA	p.K341K		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	341					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GCAAATTCAAGCGACCCATCA	0.547																																						dbGAP											0													93.0	98.0	96.0					1																	101705563		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.1023G>A	1.37:g.101705563G>A			D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_EDG1_rcpt,prints_S1P_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.K341	ENST00000305352.6	37	c.1023	CCDS777.1	1	.	.	.	.	.	.	.	.	.	.	G	0.373	-0.932972	0.02359	.	.	ENSG00000170989	ENST00000424264	.	.	.	5.24	1.03	0.20045	.	.	.	.	.	T	0.56441	0.1985	.	.	.	0.45791	D	0.998674	.	.	.	.	.	.	T	0.57464	-0.7807	5	0.46703	T	0.11	.	11.8556	0.52435	0.403:0.0:0.597:0.0	.	.	.	.	N	324	.	ENSP00000413066:S324N	S	+	2	0	S1PR1	101478151	0.314000	0.24563	0.691000	0.30163	0.357000	0.29423	0.477000	0.22196	-0.311000	0.08754	-1.842000	0.00583	AGC	S1PR1	-	prints_EDG1_rcpt	ENSG00000170989		0.547	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR1	HGNC	protein_coding	OTTHUMT00000029908.1	205	0.00	0	G	NM_001400		101705563	101705563	+1	no_errors	ENST00000305352	ensembl	human	known	69_37n	silent	134	40.97	93	SNP	0.372	A
S100A2	6273	genome.wustl.edu	37	1	153536310	153536310	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:153536310G>A	ENST00000368708.3	-	2	413	c.41C>T	c.(40-42)aCt>aTt	p.T14I	S100A2_ENST00000368710.1_Missense_Mutation_p.T14I|S100A2_ENST00000497140.1_5'UTR|S100A2_ENST00000368707.4_Missense_Mutation_p.T14I|S100A2_ENST00000487430.2_Missense_Mutation_p.T14I|S100A2_ENST00000368709.1_Missense_Mutation_p.T14I	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	15	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				endothelial cell migration (GO:0043542)		calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	GTGGAAGGTAGTGACCAGCAC	0.572																																						dbGAP											0													129.0	111.0	117.0					1																	153536310		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002829	CCDS1044.1	1q21	2013-01-10	2001-11-28		ENSG00000196754	ENSG00000196754		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10492	protein-coding gene	gene with protein product		176993	"""S100 calcium-binding protein A2"""	S100L		8341667	Standard	NM_005978		Approved	CAN19	uc001fcb.3	P29034	OTTHUMG00000035031	ENST00000368708.3:c.41C>T	1.37:g.153536310G>A	ENSP00000357697:p.Thr14Ile		O00266|Q3KRB9|Q5RHS8|Q9BU83	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.T14I	ENST00000368708.3	37	c.41	CCDS1044.1	1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.347988	0.24426	.	.	ENSG00000196754	ENST00000368708;ENST00000368710;ENST00000368709;ENST00000368707	T;T;T	0.09538	2.97;2.97;2.97	5.43	3.13	0.36017	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	1.209710	0.06114	N	0.667736	T	0.02888	0.0086	.	.	.	0.09310	N	1	B	0.21225	0.053	B	0.20955	0.032	T	0.41662	-0.9496	9	0.48119	T	0.1	.	6.5576	0.22469	0.1059:0.0:0.7046:0.1894	.	15	P29034	S10A2_HUMAN	I	14	ENSP00000357697:T14I;ENSP00000357699:T14I;ENSP00000357698:T14I	ENSP00000357696:T14I	T	-	2	0	S100A2	151802934	0.000000	0.05858	0.050000	0.19076	0.800000	0.45204	0.229000	0.17833	1.240000	0.43803	0.655000	0.94253	ACT	S100A2	-	pfam_S100_Ca-bd_sub	ENSG00000196754		0.572	S100A2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	S100A2	HGNC	protein_coding	OTTHUMT00000084789.1	63	0.00	0	G	NM_005978		153536310	153536310	-1	no_errors	ENST00000368707	ensembl	human	known	69_37n	missense	26	35.71	15	SNP	0.001	A
SAMD14	201191	genome.wustl.edu	37	17	48193254	48193254	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:48193254C>T	ENST00000330175.4	-	6	919	c.602G>A	c.(601-603)cGa>cAa	p.R201Q	SAMD14_ENST00000503131.1_Missense_Mutation_p.R201Q|SAMD14_ENST00000503734.1_5'Flank	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	201										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						CGTGGATGCTCGGCGCAGGGT	0.682																																						dbGAP											0													26.0	25.0	26.0					17																	48193254		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.602G>A	17.37:g.48193254C>T	ENSP00000329144:p.Arg201Gln		A5D8V1|Q8N2X0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R201Q	ENST00000330175.4	37	c.602	CCDS58562.1	17	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907405	0.92107	.	.	ENSG00000167100	ENST00000330175;ENST00000285206;ENST00000503131	.	.	.	5.41	5.41	0.78517	.	0.000000	0.53938	D	0.000053	T	0.76133	0.3945	L	0.59436	1.845	0.42677	D	0.993534	D;D	0.76494	0.982;0.999	B;D	0.77557	0.285;0.99	T	0.78331	-0.2245	9	0.72032	D	0.01	-2.6729	16.1147	0.81301	0.0:1.0:0.0:0.0	.	201;201	Q8IZD0;Q8IZD0-2	SAM14_HUMAN;.	Q	201;213;201	.	ENSP00000285206:R213Q	R	-	2	0	SAMD14	45548253	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	6.085000	0.71343	2.533000	0.85409	0.313000	0.20887	CGA	SAMD14	-	NULL	ENSG00000167100		0.682	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD14	HGNC	protein_coding	OTTHUMT00000366661.1	21	0.00	0	C	NM_174920		48193254	48193254	-1	no_errors	ENST00000503131	ensembl	human	known	69_37n	missense	14	72.00	36	SNP	1.000	T
SAMHD1	25939	genome.wustl.edu	37	20	35521460	35521460	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:35521460C>T	ENST00000262878.4	-	16	1955	c.1756G>A	c.(1756-1758)Gtt>Att	p.V586I	TLDC2_ENST00000217320.3_3'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	586					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GGGGCTATAACATCGCCATCC	0.438																																						dbGAP											0													149.0	128.0	135.0					20																	35521460		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1756G>A	20.37:g.35521460C>T	ENSP00000262878:p.Val586Ile		B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM	p.V586I	ENST00000262878.4	37	c.1756	CCDS13288.1	20	.	.	.	.	.	.	.	.	.	.	C	10.20	1.284620	0.23392	.	.	ENSG00000101347	ENST00000262878	D	0.95238	-3.65	4.82	-2.49	0.06403	.	0.401735	0.26792	N	0.022477	D	0.88325	0.6406	L	0.42245	1.32	0.19300	N	0.999978	B	0.09022	0.002	B	0.09377	0.004	T	0.73898	-0.3837	10	0.17832	T	0.49	-4.3011	9.8615	0.41118	0.0:0.458:0.0:0.542	.	586	Q9Y3Z3	SAMH1_HUMAN	I	586	ENSP00000262878:V586I	ENSP00000262878:V586I	V	-	1	0	SAMHD1	34954874	0.637000	0.27216	0.000000	0.03702	0.233000	0.25261	0.079000	0.14782	-0.679000	0.05217	-0.258000	0.10820	GTT	SAMHD1	-	NULL	ENSG00000101347		0.438	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMHD1	HGNC	protein_coding	OTTHUMT00000079062.2	176	0.00	0	C	NM_015474		35521460	35521460	-1	no_errors	ENST00000262878	ensembl	human	known	69_37n	missense	197	10.05	22	SNP	0.097	T
SARM1	23098	genome.wustl.edu	37	17	26711585	26711585	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:26711585C>T	ENST00000457710.3	+	3	1668	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	433					innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCGAGAGCTTCCGGGTAGAGT	0.682																																						dbGAP											0													28.0	27.0	28.0					17																	26711585		2202	4296	6498	-	-	-	SO:0001819	synonymous_variant	0			AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1197C>T	17.37:g.26711585C>T			O60277|Q7LGG3|Q9NXY5	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.F399	ENST00000457710.3	37	c.1197		17																																																																																			SARM1	-	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,smart_SAM,pfscan_SAM	ENSG00000004139		0.682	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	SARM1	HGNC	protein_coding	OTTHUMT00000255679.3	11	0.00	0	C	NM_015077		26711585	26711585	+1	no_errors	ENST00000457710	ensembl	human	novel	69_37n	silent	40	24.53	13	SNP	1.000	T
SASH3	54440	genome.wustl.edu	37	X	128922516	128922516	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:128922516delT	ENST00000356892.3	+	3	377	c.263delT	c.(262-264)atgfs	p.M88fs		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	88					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						AACAGGAAGATGGGCAAGATG	0.572																																						dbGAP											0													111.0	89.0	97.0					X																	128922516		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.263delT	X.37:g.128922516delT	ENSP00000349359:p.Met88fs		A6NCH1|A8K7K8|Q5JZ38	Frame_Shift_Del	DEL	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.M88fs	ENST00000356892.3	37	c.263	CCDS14614.1	X																																																																																			SASH3	-	pfam_rSAM/SH3_domain-containing	ENSG00000122122		0.572	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH3	HGNC	protein_coding	OTTHUMT00000058208.1	54	0.00	0	T	NM_018990		128922516	128922516	+1	no_errors	ENST00000356892	ensembl	human	known	69_37n	frame_shift_del	49	43.18	38	DEL	1.000	-
SAT2	112483	genome.wustl.edu	37	17	7530314	7530314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:7530314C>T	ENST00000269298.5	-	4	470	c.251G>A	c.(250-252)tGg>tAg	p.W84*	SHBG_ENST00000572262.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000340624.5_5'Flank|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000575314.1_Intron|SAT2_ENST00000573566.1_Intron|SAT2_ENST00000380466.2_5'UTR|SHBG_ENST00000576728.1_Intron	NM_133491.3	NP_597998.1	Q96F10	SAT2_HUMAN	spermidine/spermine N1-acetyltransferase family member 2	84	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				nor-spermidine metabolic process (GO:0046204)|putrescine acetylation (GO:0032920)|putrescine catabolic process (GO:0009447)|spermidine acetylation (GO:0032918)|spermine acetylation (GO:0032919)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	diamine N-acetyltransferase activity (GO:0004145)	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	GCGTCCCTTCCATGTACTGTA	0.542																																						dbGAP											1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											75.0	74.0	74.0					17																	7530314		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF348524	CCDS11116.1	17p13.2	2011-11-16	2008-01-07		ENSG00000141504	ENSG00000141504	2.3.1.57		23160	protein-coding gene	gene with protein product	"""diamine N-acetyltransferase 2"""	611463	"""spermidine/spermine N1-acetyltransferase 2"""			15283699, 17558023	Standard	NM_133491		Approved	SSAT2	uc002gic.2	Q96F10	OTTHUMG00000108152	ENST00000269298.5:c.251G>A	17.37:g.7530314C>T	ENSP00000269298:p.Trp84*			Nonsense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.W84*	ENST00000269298.5	37	c.251	CCDS11116.1	17	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537950	0.85917	.	.	ENSG00000141504	ENST00000380466;ENST00000269298	.	.	.	5.75	5.75	0.90469	.	0.171160	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.7315	15.4353	0.75140	0.0:1.0:0.0:0.0	.	.	.	.	X	163;84	.	ENSP00000269298:W84X	W	-	2	0	SAT2	7471039	1.000000	0.71417	0.993000	0.49108	0.361000	0.29550	5.699000	0.68310	2.713000	0.92767	0.557000	0.71058	TGG	SAT2	-	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000141504		0.542	SAT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAT2	HGNC	protein_coding	OTTHUMT00000440078.1	79	0.00	0	C	NM_133491		7530314	7530314	-1	no_errors	ENST00000269298	ensembl	human	known	69_37n	nonsense	42	39.13	27	SNP	1.000	T
SCAF1	58506	genome.wustl.edu	37	19	50148658	50148658	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:50148658C>T	ENST00000360565.3	+	3	280	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	52					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGACCTGCCCAATGATAAAG	0.557																																						dbGAP											0													72.0	71.0	72.0					19																	50148658		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.156C>T	19.37:g.50148658C>T			Q7Z5V7|Q8WVA1|Q9NR59	Silent	SNP	NULL	p.P52	ENST00000360565.3	37	c.156	CCDS33074.1	19																																																																																			SCAF1	-	NULL	ENSG00000126461		0.557	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1	95	0.00	0	C	NM_021228		50148658	50148658	+1	no_errors	ENST00000360565	ensembl	human	known	69_37n	silent	47	11.32	6	SNP	0.310	T
ZBED9	114821	genome.wustl.edu	37	6	28542488	28542488	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:28542488G>A	ENST00000452236.2	-	3	2611	c.1994C>T	c.(1993-1995)cCt>cTt	p.P665L	SCAND3_ENST00000530247.1_5'Flank	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						AGGTTTAACAGGCAAACTTCT	0.433																																						dbGAP											0													164.0	164.0	164.0					6																	28542488		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000452236.2:c.1994C>T	6.37:g.28542488G>A	ENSP00000395259:p.Pro665Leu			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.P665L	ENST00000452236.2	37	c.1994	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085694	0.36758	.	.	ENSG00000232040	ENST00000452236	T	0.01406	4.93	3.51	3.51	0.40186	.	.	.	.	.	T	0.00468	0.0015	N	0.08118	0	0.36472	D	0.867322	B	0.20052	0.041	B	0.14578	0.011	T	0.53063	-0.8491	9	0.72032	D	0.01	.	10.731	0.46096	0.0:0.0:1.0:0.0	.	665	Q6R2W3	SCND3_HUMAN	L	665	ENSP00000395259:P665L	ENSP00000395259:P665L	P	-	2	0	SCAND3	28650467	0.007000	0.16637	0.921000	0.36526	0.995000	0.86356	0.528000	0.23002	1.971000	0.57363	0.563000	0.77884	CCT	SCAND3	-	NULL	ENSG00000232040		0.433	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	202	0.00	0	G			28542488	28542488	-1	no_errors	ENST00000452236	ensembl	human	known	69_37n	missense	226	13.03	34	SNP	0.925	A
SCIN	85477	genome.wustl.edu	37	7	12691524	12691524	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:12691524C>T	ENST00000297029.5	+	15	2119	c.2018C>T	c.(2017-2019)tCt>tTt	p.S673F	AC011891.5_ENST00000437088.1_lincRNA|SCIN_ENST00000519209.1_Missense_Mutation_p.S426F|SCIN_ENST00000445618.2_Missense_Mutation_p.S426F	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	673	Ca(2+)-dependent actin binding.				actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCTCTGAAGTCTGGTAAGCTC	0.368																																						dbGAP											0													123.0	112.0	115.0					7																	12691524		1854	4101	5955	-	-	-	SO:0001583	missense	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385	ENST00000297029.5:c.2018C>T	7.37:g.12691524C>T	ENSP00000297029:p.Ser673Phe		A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.S673F	ENST00000297029.5	37	c.2018	CCDS47545.1	7	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132389	0.77662	.	.	ENSG00000006747	ENST00000297029;ENST00000519209;ENST00000445618	T;T;T	0.55760	0.5;0.5;0.5	5.74	5.74	0.90152	Gelsolin domain (1);	0.055957	0.64402	D	0.000001	T	0.67942	0.2947	L	0.43152	1.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.66110	-0.6005	10	0.49607	T	0.09	-12.8966	19.9254	0.97100	0.0:1.0:0.0:0.0	.	673	Q9Y6U3	ADSV_HUMAN	F	673;426;426	ENSP00000297029:S673F;ENSP00000430997:S426F;ENSP00000390189:S426F	ENSP00000297029:S673F	S	+	2	0	SCIN	12658049	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	2.648000	0.46647	2.710000	0.92621	0.655000	0.94253	TCT	SCIN	-	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	ENSG00000006747		0.368	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCIN	HGNC	protein_coding	OTTHUMT00000326041.1	47	0.00	0	C	NM_033128		12691524	12691524	+1	no_errors	ENST00000297029	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	1.000	T
SCN3A	6328	genome.wustl.edu	37	2	165984479	165984480	+	Nonsense_Mutation	DNP	TC	TC	AA			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:165984479_165984480TC>AA	ENST00000360093.3	-	18	3545_3546	c.3054_3055GA>TT	c.(3052-3057)gtGAaa>gtTTaa	p.K1019*	SCN3A_ENST00000283254.7_Nonsense_Mutation_p.K1019*|SCN3A_ENST00000409101.3_Nonsense_Mutation_p.K970*	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1019					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)	ATCTTATTTTTCACATAATCAA	0.361																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	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.3054_3055delinsAA	2.37:g.165984479_165984480delinsAA	ENSP00000353206:p.Lys1019*		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Nonsense_Mutation|Silent	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.K1019*|p.V1018	ENST00000360093.3	37	c.3055|c.3054		2																																																																																			SCN3A	-	pfam_Na_trans_assoc	ENSG00000153253		0.361	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		150	0.00	0	T|C	NM_006922		165984479|165984480	165984479|165984480	-1	no_errors	ENST00000283254	ensembl	human	known	69_37n	nonsense|silent	107|106	21.32|20.90	29|28	SNP	1.000|0.999	A
SCN3A	6328	genome.wustl.edu	37	2	165984482	165984482	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:165984482C>T	ENST00000360093.3	-	18	3543	c.3052G>A	c.(3052-3054)Gtg>Atg	p.V1018M	SCN3A_ENST00000283254.7_Missense_Mutation_p.V1018M|SCN3A_ENST00000409101.3_Missense_Mutation_p.V969M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1018					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)	TTATTTTTCACATAATCAATT	0.368																																						dbGAP											0													68.0	72.0	71.0					2																	165984482		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.3052G>A	2.37:g.165984482C>T	ENSP00000353206:p.Val1018Met		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.V1018M	ENST00000360093.3	37	c.3052		2	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128079	0.37533	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	6.04	6.04	0.98038	Sodium ion transport-associated (1);	0.000000	0.53938	D	0.000041	D	0.90130	0.6916	M	0.82323	2.585	0.80722	D	1	B;B;P;P;B	0.36909	0.161;0.395;0.573;0.573;0.133	B;B;B;B;B	0.43754	0.163;0.43;0.392;0.392;0.166	D	0.90425	0.4420	10	0.87932	D	0	.	13.2469	0.60028	0.0:0.8885:0.0:0.1115	.	1018;969;969;969;1018	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	M	1018;1018;969;969	ENSP00000353206:V1018M;ENSP00000283254:V1018M;ENSP00000386726:V969M;ENSP00000403348:V969M	ENSP00000283254:V1018M	V	-	1	0	SCN3A	165692728	0.118000	0.22208	1.000000	0.80357	0.979000	0.70002	0.077000	0.14738	2.873000	0.98535	0.561000	0.74099	GTG	SCN3A	-	pfam_Na_trans_assoc	ENSG00000153253		0.368	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	HGNC	protein_coding		149	0.00	0	C	NM_006922		165984482	165984482	-1	no_errors	ENST00000283254	ensembl	human	known	69_37n	missense	105	20.45	27	SNP	1.000	T
SCRN2	90507	genome.wustl.edu	37	17	45917717	45917717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:45917717G>A	ENST00000290216.9	-	3	321	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	SCRN2_ENST00000584123.1_Nonsense_Mutation_p.Q74*|SCRN2_ENST00000407215.3_Nonsense_Mutation_p.Q66*	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	66						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						TTCGACACCTGTTCCACTTCA	0.582																																						dbGAP											0													87.0	65.0	72.0					17																	45917717		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.196C>T	17.37:g.45917717G>A	ENSP00000290216:p.Gln66*		A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Nonsense_Mutation	SNP	pfam_Peptidase_C69,pfam_Pept_C45_AAT	p.Q66*	ENST00000290216.9	37	c.196	CCDS11519.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.101314	0.97286	.	.	ENSG00000141295	ENST00000290216;ENST00000407215	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.8177	17.2696	0.87097	0.0:0.0:1.0:0.0	.	.	.	.	X	66	.	ENSP00000290216:Q66X	Q	-	1	0	SCRN2	43272716	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	9.814000	0.99346	2.368000	0.80403	0.655000	0.94253	CAG	SCRN2	-	pfam_Pept_C45_AAT	ENSG00000141295		0.582	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN2	HGNC	protein_coding	OTTHUMT00000441383.1	25	0.00	0	G	NM_138355		45917717	45917717	-1	no_errors	ENST00000290216	ensembl	human	known	69_37n	nonsense	27	20.00	7	SNP	1.000	A
SCUBE2	57758	genome.wustl.edu	37	11	9081968	9081968	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:9081968C>T	ENST00000309263.3	-	8	1026	c.954G>A	c.(952-954)ggG>ggA	p.G318G	SCUBE2_ENST00000457346.2_Silent_p.G318G|SCUBE2_ENST00000520467.1_Silent_p.G318G|RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000450649.2_Silent_p.G318G			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	318	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TACATGTCTTCCCATCCAACT	0.537																																						dbGAP											0													157.0	137.0	144.0					11																	9081968		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AK131552	CCDS7797.1, CCDS7797.2, CCDS53599.1	11p15.4	2014-09-04			ENSG00000175356	ENSG00000175356			30425	protein-coding gene	gene with protein product		611747				12270931, 11528127	Standard	NM_020974		Approved	Cegf1, Cegb1, FLJ16792	uc001mhi.2	Q9NQ36	OTTHUMG00000163880	ENST00000309263.3:c.954G>A	11.37:g.9081968C>T			Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.G42E	ENST00000309263.3	37	c.125		11	.	.	.	.	.	.	.	.	.	.	C	8.397	0.841064	0.16891	.	.	ENSG00000175356	ENST00000519788;ENST00000531429	D;D	0.97114	-4.25;-4.25	6.16	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.97204	0.9086	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.96178	0.9128	7	0.48119	T	0.1	.	11.9951	0.53196	0.0:0.7106:0.2276:0.0618	.	.	.	.	E	42;83	ENSP00000435415:G42E;ENSP00000434000:G83E	ENSP00000435415:G42E	G	-	2	0	SCUBE2	9038544	0.996000	0.38824	1.000000	0.80357	0.996000	0.88848	0.325000	0.19628	0.937000	0.37394	0.650000	0.86243	GGA	SCUBE2	-	smart_EGF-like,smart_EGF-like_Ca-bd	ENSG00000175356		0.537	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	137	0.00	0	C	NM_020974		9081968	9081968	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000519788	ensembl	human	novel	69_37n	missense	99	22.05	28	SNP	1.000	T
SDCCAG8	10806	genome.wustl.edu	37	1	243468085	243468085	+	Intron	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:243468085G>A	ENST00000366541.3	+	7	858				SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000496361.1_3'UTR|SDCCAG8_ENST00000391846.1_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTGAGGTAAAGTGAAATCGTC	0.289																																						dbGAP											0													58.0	61.0	60.0					1																	243468085		2203	4287	6490	-	-	-	SO:0001627	intron_variant	0			AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.740+6G>A	1.37:g.243468085G>A			O60527|Q3ZCR6|Q8N5F2|Q9P0F1	RNA	SNP	-	NULL	ENST00000366541.3	37	NULL	CCDS31075.1	1																																																																																			SDCCAG8	-	-	ENSG00000054282		0.289	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCCAG8	HGNC	protein_coding	OTTHUMT00000096485.1	101	0.00	0	G	NM_006642		243468085	243468085	+1	no_errors	ENST00000496361	ensembl	human	known	69_37n	rna	86	13.13	13	SNP	0.824	A
SDK1	221935	genome.wustl.edu	37	7	4215434	4215434	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:4215434G>A	ENST00000404826.2	+	34	5103	c.4964G>A	c.(4963-4965)aGc>aAc	p.S1655N	SDK1_ENST00000389531.3_Intron	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1655	Fibronectin type-III 10. {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)		ACGGTGAACAGCAGCTCCACA	0.592																																						dbGAP											0													224.0	157.0	180.0					7																	4215434		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.4964G>A	7.37:g.4215434G>A	ENSP00000385899:p.Ser1655Asn		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.S1655N	ENST00000404826.2	37	c.4964	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033088	0.54896	.	.	ENSG00000146555	ENST00000404826	T	0.56444	0.46	4.52	4.52	0.55395	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.68879	0.3049	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.967;0.999	P;D	0.85130	0.897;0.997	T	0.66015	-0.6028	10	0.18276	T	0.48	.	15.4335	0.75125	0.0:0.0:1.0:0.0	.	142;1655	F2Z3E9;Q7Z5N4	.;SDK1_HUMAN	N	1655	ENSP00000385899:S1655N	ENSP00000385899:S1655N	S	+	2	0	SDK1	4181960	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.567000	0.73983	2.068000	0.61886	0.655000	0.94253	AGC	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.592	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	91	0.00	0	G	NM_152744		4215434	4215434	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	51	21.54	14	SNP	1.000	A
SDR42E1	93517	genome.wustl.edu	37	16	82032822	82032822	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:82032822G>A	ENST00000328945.5	-	3	1203	c.1076C>T	c.(1075-1077)tCt>tTt	p.S359F	SDR42E1_ENST00000534209.1_5'Flank	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	359					steroid biosynthetic process (GO:0006694)	integral component of membrane (GO:0016021)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)			NS(2)|endometrium(1)|lung(4)|skin(3)	10						ACGACTTCCAGAACTTCTGCC	0.468																																						dbGAP											0													117.0	114.0	115.0					16																	82032822		1929	4147	6076	-	-	-	SO:0001583	missense	0			AF161368	CCDS42205.1	16q23.3	2011-09-14				ENSG00000184860	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	29834	protein-coding gene	gene with protein product						19027726	Standard	NM_145168		Approved	HSPC105	uc002fgu.3	Q8WUS8		ENST00000328945.5:c.1076C>T	16.37:g.82032822G>A	ENSP00000332407:p.Ser359Phe		B2RDS1|Q9P0D1	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like	p.S359F	ENST00000328945.5	37	c.1076	CCDS42205.1	16	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956989	0.34565	.	.	ENSG00000184860	ENST00000328945	D	0.84223	-1.82	5.52	2.06	0.26882	.	1.320060	0.04347	N	0.355083	T	0.75466	0.3853	N	0.21448	0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61898	-0.6968	10	0.56958	D	0.05	0.5679	3.5571	0.07869	0.0966:0.1394:0.4794:0.2847	.	359	Q8WUS8	D42E1_HUMAN	F	359	ENSP00000332407:S359F	ENSP00000332407:S359F	S	-	2	0	SDR42E1	80590323	0.000000	0.05858	0.001000	0.08648	0.497000	0.33675	0.912000	0.28597	0.664000	0.31047	0.655000	0.94253	TCT	SDR42E1	-	NULL	ENSG00000184860		0.468	SDR42E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR42E1	HGNC	protein_coding	OTTHUMT00000388081.2	186	0.00	0	G	NM_145168		82032822	82032822	-1	no_errors	ENST00000328945	ensembl	human	known	69_37n	missense	112	38.59	71	SNP	0.000	A
SDR9C7	121214	genome.wustl.edu	37	12	57317827	57317827	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:57317827G>A	ENST00000293502.1	-	4	875	c.732C>T	c.(730-732)gaC>gaT	p.D244D		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	244					oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	retinol dehydrogenase activity (GO:0004745)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TTTTTAACTTGTCAGTATCTG	0.463																																						dbGAP											0													90.0	76.0	81.0					12																	57317827		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY044434	CCDS8926.1	12q13.3	2014-09-04			ENSG00000170426	ENSG00000170426	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29958	protein-coding gene	gene with protein product		609769				12234675, 19027726	Standard	NM_148897		Approved	SDR-O, RDHS	uc010sqw.2	Q8NEX9	OTTHUMG00000171004	ENST00000293502.1:c.732C>T	12.37:g.57317827G>A			B3KVB4	Silent	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.D244	ENST00000293502.1	37	c.732	CCDS8926.1	12																																																																																			SDR9C7	-	NULL	ENSG00000170426		0.463	SDR9C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR9C7	HGNC	protein_coding	OTTHUMT00000411211.1	143	0.00	0	G	NM_148897		57317827	57317827	-1	no_errors	ENST00000293502	ensembl	human	known	69_37n	silent	106	26.90	39	SNP	0.046	A
SEC14L4	284904	genome.wustl.edu	37	22	30891945	30891945	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:30891945G>A	ENST00000255858.7	-	3	227	c.144C>T	c.(142-144)gaC>gaT	p.D48D	SEC14L4_ENST00000381982.3_Silent_p.D48D|SEC14L4_ENST00000540456.1_Missense_Mutation_p.T17I|SEC14L4_ENST00000392772.2_5'UTR	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	48						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	ATTTCTGCAGGTCAAAGTTTC	0.488																																						dbGAP											0													79.0	62.0	68.0					22																	30891945		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.144C>T	22.37:g.30891945G>A			A5D6W7|A6NCV4	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD	p.T17I	ENST00000255858.7	37	c.50	CCDS13878.1	22	.	.	.	.	.	.	.	.	.	.	g	15.48	2.846467	0.51164	.	.	ENSG00000133488	ENST00000540456	T	0.68624	-0.34	4.66	4.66	0.58398	.	.	.	.	.	T	0.66356	0.2781	.	.	.	0.80722	D	1	P	0.39759	0.687	B	0.42555	0.391	T	0.70872	-0.4754	8	0.62326	D	0.03	21.8877	14.9135	0.70776	0.0:0.0:1.0:0.0	.	17	G3V1L4	.	I	17	ENSP00000440848:T17I	ENSP00000440848:T17I	T	-	2	0	SEC14L4	29221945	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.145000	0.42207	2.563000	0.86464	0.655000	0.94253	ACC	SEC14L4	-	NULL	ENSG00000133488		0.488	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L4	HGNC	protein_coding	OTTHUMT00000321946.1	33	0.00	0	G	NM_174977		30891945	30891945	-1	no_errors	ENST00000540456	ensembl	human	known	69_37n	missense	19	53.66	22	SNP	1.000	A
SEC16A	9919	genome.wustl.edu	37	9	139350573	139350573	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:139350573G>A	ENST00000371706.3	-	17	5095	c.5062C>T	c.(5062-5064)Cca>Tca	p.P1688S	SEC16A_ENST00000431893.2_Missense_Mutation_p.P1688S|SEC16A_ENST00000290037.6_Missense_Mutation_p.P1688S|SEC16A_ENST00000313050.7_Missense_Mutation_p.P1866S			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1688					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCCTCTTCTGGCTTCTCTTTC	0.587																																						dbGAP											0													77.0	82.0	80.0					9																	139350573		1939	4126	6065	-	-	-	SO:0001583	missense	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.5062C>T	9.37:g.139350573G>A	ENSP00000360771:p.Pro1688Ser		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.P1866S	ENST00000371706.3	37	c.5596		9	.	.	.	.	.	.	.	.	.	.	G	20.9	4.071990	0.76415	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T;T;T	0.50277	1.73;0.75;1.36;1.74;1.73;1.73	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.45581	1.43	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;0.998;0.997;0.998	T	0.50947	-0.8767	10	0.14252	T	0.57	-22.4048	15.3663	0.74526	0.0:0.0:1.0:0.0	.	1866;1688;1688;1256	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	S	1866;260;588;1688;1688;1688;1256	ENSP00000325827:P1866S;ENSP00000277537:P260S;ENSP00000403525:P588S;ENSP00000360771:P1688S;ENSP00000290037:P1688S;ENSP00000387583:P1688S	ENSP00000277537:P260S	P	-	1	0	SEC16A	138470394	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	8.588000	0.90813	2.463000	0.83235	0.561000	0.74099	CCA	SEC16A	-	NULL	ENSG00000148396		0.587	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	56	0.00	0	G	XM_088459		139350573	139350573	-1	no_errors	ENST00000313050	ensembl	human	known	69_37n	missense	65	54.55	78	SNP	1.000	A
SEC24A	10802	genome.wustl.edu	37	5	134029565	134029565	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:134029565C>T	ENST00000398844.2	+	13	2216	c.1928C>T	c.(1927-1929)aCt>aTt	p.T643I		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	643					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAACTCCCAACTCTTGGAGTG	0.502																																						dbGAP											0													83.0	82.0	83.0					5																	134029565		1914	4136	6050	-	-	-	SO:0001583	missense	0			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.1928C>T	5.37:g.134029565C>T	ENSP00000381823:p.Thr643Ile		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.T643I	ENST00000398844.2	37	c.1928	CCDS43363.1	5	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351200	0.61183	.	.	ENSG00000113615	ENST00000398844	T	0.54279	0.58	5.35	3.52	0.40303	Sec23/Sec24, trunk domain (1);	0.258408	0.44285	D	0.000469	T	0.51295	0.1666	L	0.46670	1.46	0.80722	D	1	P;P	0.44006	0.725;0.824	P;P	0.46049	0.502;0.502	T	0.43196	-0.9406	10	0.32370	T	0.25	-9.3257	14.2496	0.66011	0.2863:0.7137:0.0:0.0	.	407;643	B4E205;O95486	.;SC24A_HUMAN	I	643	ENSP00000381823:T643I	ENSP00000381823:T643I	T	+	2	0	SEC24A	134057464	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.814000	0.48010	0.592000	0.29728	0.462000	0.41574	ACT	SEC24A	-	pfam_Sec23/24_trunk_dom	ENSG00000113615		0.502	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24A	HGNC	protein_coding	OTTHUMT00000371563.1	109	0.00	0	C			134029565	134029565	+1	no_errors	ENST00000398844	ensembl	human	known	69_37n	missense	130	36.27	74	SNP	0.998	T
SEC24D	9871	genome.wustl.edu	37	4	119661853	119661853	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:119661853C>T	ENST00000280551.6	-	17	2441	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	SEC24D_ENST00000511481.1_Missense_Mutation_p.D366N|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000379735.5_Missense_Mutation_p.D736N|SEC24D_ENST00000429811.2_Missense_Mutation_p.D291N|SEC24D_ENST00000419654.2_Missense_Mutation_p.D291N			O94855	SC24D_HUMAN	SEC24 family member D	735					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTGAGTTTGTCATCGTGCTTG	0.453																																						dbGAP											0													163.0	134.0	144.0					4																	119661853		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2203G>A	4.37:g.119661853C>T	ENSP00000280551:p.Asp735Asn		Q8IYI7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom	p.D736N	ENST00000280551.6	37	c.2206	CCDS3710.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.155165	0.97329	.	.	ENSG00000150961	ENST00000280551;ENST00000379735;ENST00000429811;ENST00000511481;ENST00000419654	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	6.07	6.07	0.98685	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.89015	0.6595	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	D	0.89152	0.3524	10	0.66056	D	0.02	-35.4331	20.6593	0.99626	0.0:1.0:0.0:0.0	.	736;735	O94855-2;O94855	.;SC24D_HUMAN	N	735;736;291;366;291	ENSP00000280551:D735N;ENSP00000369059:D736N;ENSP00000409775:D291N;ENSP00000425491:D366N;ENSP00000388324:D291N	ENSP00000280551:D735N	D	-	1	0	SEC24D	119881301	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GAC	SEC24D	-	pfam_Sec23_24_beta_S	ENSG00000150961		0.453	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24D	HGNC	protein_coding	OTTHUMT00000256514.4	266	0.00	0	C			119661853	119661853	-1	no_errors	ENST00000379735	ensembl	human	known	69_37n	missense	215	24.56	70	SNP	1.000	T
SEMA4F	10505	genome.wustl.edu	37	2	74903023	74903023	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:74903023G>C	ENST00000357877.2	+	12	1779	c.1630G>C	c.(1630-1632)Ggg>Cgg	p.G544R	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.G389R	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	544	PSI.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GGCCCATGCCGGGGAGCACCG	0.582																																						dbGAP											0													65.0	63.0	64.0					2																	74903023		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1630G>C	2.37:g.74903023G>C	ENSP00000350547:p.Gly544Arg		Q542Y7|Q9NS35	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.G544R	ENST00000357877.2	37	c.1630	CCDS1955.1	2	.	.	.	.	.	.	.	.	.	.	G	4.330	0.060649	0.08339	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.18960	2.18;2.18	4.38	4.38	0.52667	.	1.135720	0.07189	U	0.855427	T	0.23094	0.0558	L	0.33485	1.01	0.09310	N	0.999991	B;B	0.26041	0.117;0.14	B;B	0.30105	0.068;0.111	T	0.25779	-1.0122	10	0.66056	D	0.02	.	14.4764	0.67548	0.0:0.0:1.0:0.0	.	389;544	O95754-2;O95754	.;SEM4F_HUMAN	R	544;389	ENSP00000350547:G544R;ENSP00000342675:G389R	ENSP00000342675:G389R	G	+	1	0	SEMA4F	74756531	0.010000	0.17322	0.669000	0.29828	0.042000	0.13812	0.828000	0.27435	2.280000	0.76307	0.467000	0.42956	GGG	SEMA4F	-	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	ENSG00000135622		0.582	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4F	HGNC	protein_coding	OTTHUMT00000252214.2	96	0.00	0	G	NM_004263		74903023	74903023	+1	no_errors	ENST00000357877	ensembl	human	known	69_37n	missense	80	10.11	9	SNP	0.161	C
SEMA6C	10500	genome.wustl.edu	37	1	151107066	151107066	+	Intron	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:151107066G>A	ENST00000341697.3	-	17	3406				RP11-68I18.10_ENST00000563624.1_RNA|SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C						axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	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)			TGCAGCTTTGGCTGCAACAGC	0.537																																						dbGAP											0													71.0	71.0	71.0					1																	151107066		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1714+29C>T	1.37:g.151107066G>A			D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	RNA	SNP	-	NULL	ENST00000341697.3	37	NULL	CCDS984.1	1																																																																																			SEMA6C	-	-	ENSG00000143434		0.537	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	72	0.00	0	G	NM_030913		151107066	151107066	-1	no_errors	ENST00000489944	ensembl	human	known	69_37n	rna	47	11.32	6	SNP	0.007	A
SERINC3	10955	genome.wustl.edu	37	20	43138535	43138535	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:43138535C>T	ENST00000342374.4	-	5	767	c.610G>A	c.(610-612)Gct>Act	p.A204T	SERINC3_ENST00000255175.1_Missense_Mutation_p.A204T|SERINC3_ENST00000541235.1_Missense_Mutation_p.A149T	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	204					phosphatidylserine metabolic process (GO:0006658)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TACCTACCAGCATACCACAAC	0.423																																						dbGAP											0													253.0	210.0	225.0					20																	43138535		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49188	CCDS13333.1	20q13.12	2008-05-14	2005-11-15	2005-11-15	ENSG00000132824	ENSG00000132824			11699	protein-coding gene	gene with protein product		607165	"""tumor differentially expressed 1"""	TDE1		10559794	Standard	NM_006811		Approved	DIFF33, TDE, SBBI99, TMS-1, AIGP1	uc002xme.3	Q13530	OTTHUMG00000033087	ENST00000342374.4:c.610G>A	20.37:g.43138535C>T	ENSP00000340243:p.Ala204Thr		B4DUE9|O43717|Q9BR33	Missense_Mutation	SNP	pfam_TMS_TDE	p.A204T	ENST00000342374.4	37	c.610	CCDS13333.1	20	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781955	0.70222	.	.	ENSG00000132824	ENST00000255175;ENST00000342374;ENST00000538937;ENST00000541235	T;T;T	0.14893	2.47;2.47;2.47	5.65	4.71	0.59529	.	0.198882	0.53938	D	0.000047	T	0.29093	0.0723	M	0.80746	2.51	0.58432	D	0.999991	B;P	0.40534	0.089;0.72	B;P	0.44811	0.178;0.461	T	0.08066	-1.0740	10	0.23891	T	0.37	.	14.5098	0.67776	0.0:0.9306:0.0:0.0694	.	204;204	Q53GK8;Q13530	.;SERC3_HUMAN	T	204;204;171;149	ENSP00000255175:A204T;ENSP00000340243:A204T;ENSP00000440966:A149T	ENSP00000255175:A204T	A	-	1	0	SERINC3	42571949	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	3.882000	0.56160	1.631000	0.50456	0.655000	0.94253	GCT	SERINC3	-	pfam_TMS_TDE	ENSG00000132824		0.423	SERINC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC3	HGNC	protein_coding	OTTHUMT00000080544.3	266	0.00	0	C	NM_006811		43138535	43138535	-1	no_errors	ENST00000255175	ensembl	human	known	69_37n	missense	171	11.34	22	SNP	1.000	T
SERPINA13P	388007	genome.wustl.edu	37	14	95107971	95107971	+	RNA	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:95107971C>T	ENST00000469935.1	+	0	576					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										CTGGGGTTCACCCTCACCGTG	0.642																																						dbGAP											0													21.0	24.0	23.0					14																	95107971		2203	4299	6502	-	-	-			0			AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95107971C>T				RNA	SNP	-	NULL	ENST00000469935.1	37	NULL		14																																																																																			SERPINA13	-	-	ENSG00000187483		0.642	SERPINA13P-002	KNOWN	basic	processed_transcript	SERPINA13	HGNC	pseudogene	OTTHUMT00000316754.1	31	0.00	0	C	NR_015340		95107971	95107971	+1	no_errors	ENST00000469935	ensembl	human	known	69_37n	rna	70	18.60	16	SNP	0.737	T
SF3A3	10946	genome.wustl.edu	37	1	38446304	38446304	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:38446304G>A	ENST00000373019.4	-	8	1599	c.644C>T	c.(643-645)gCt>gTt	p.A215V	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.A162V	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	215					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCAAACTCAGCCTGAATCTT	0.453																																						dbGAP											0													95.0	90.0	92.0					1																	38446304		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.644C>T	1.37:g.38446304G>A	ENSP00000362110:p.Ala215Val		D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin	p.A215V	ENST00000373019.4	37	c.644	CCDS428.1	1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153914	0.38021	.	.	ENSG00000183431	ENST00000373019;ENST00000448721	.	.	.	5.34	-1.48	0.08745	.	1.084850	0.06912	N	0.807830	T	0.42291	0.1196	M	0.62723	1.935	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.37407	-0.9707	9	0.32370	T	0.25	-0.9849	7.9396	0.29950	0.1439:0.0:0.3384:0.5177	.	162;215	E7EUT8;Q12874	.;SF3A3_HUMAN	V	215;162	.	ENSP00000362110:A215V	A	-	2	0	SF3A3	38218891	0.000000	0.05858	0.960000	0.40013	0.876000	0.50452	-0.218000	0.09240	-0.101000	0.12219	0.478000	0.44815	GCT	SF3A3	-	NULL	ENSG00000183431		0.453	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A3	HGNC	protein_coding	OTTHUMT00000012976.1	134	0.00	0	G	NM_006802		38446304	38446304	-1	no_errors	ENST00000373019	ensembl	human	known	69_37n	missense	114	10.24	13	SNP	0.037	A
SH3BP4	23677	genome.wustl.edu	37	2	235951291	235951291	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:235951291C>T	ENST00000409212.1	+	4	2385	c.1878C>T	c.(1876-1878)ctC>ctT	p.L626L	SH3BP4_ENST00000392011.2_Silent_p.L626L|SH3BP4_ENST00000344528.4_Silent_p.L626L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	626					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GGAGGTTTCTCAAGAAGAACG	0.547																																						dbGAP											0													59.0	58.0	58.0					2																	235951291		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.1878C>T	2.37:g.235951291C>T			O95082|Q309A3|Q53QD0|Q53TD1	Silent	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_ZU5,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.L626	ENST00000409212.1	37	c.1878	CCDS2513.1	2																																																																																			SH3BP4	-	NULL	ENSG00000130147		0.547	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SH3BP4	HGNC	protein_coding	OTTHUMT00000329763.1	96	0.00	0	C			235951291	235951291	+1	no_errors	ENST00000344528	ensembl	human	known	69_37n	silent	100	20.00	25	SNP	0.997	T
SHISA4	149345	genome.wustl.edu	37	1	201859621	201859621	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:201859621C>T	ENST00000362011.6	+	3	572	c.285C>T	c.(283-285)ctC>ctT	p.L95L	SHISA4_ENST00000464117.1_3'UTR	NM_198149.2	NP_937792.2	Q96DD7	SHSA4_HUMAN	shisa family member 4	95						integral component of membrane (GO:0016021)				kidney(1)|lung(4)	5						CTGTGATCCTCTTTGTTGCTG	0.542																																						dbGAP											0													236.0	198.0	211.0					1																	201859621		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.285C>T	1.37:g.201859621C>T			B4DFI0|B7ZAJ7|Q5VUU1|Q6P711|Q6UWY7	Silent	SNP	NULL	p.L95	ENST00000362011.6	37	c.285	CCDS1416.1	1																																																																																			SHISA4	-	NULL	ENSG00000198892		0.542	SHISA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHISA4	HGNC	protein_coding	OTTHUMT00000087096.1	196	0.00	0	C	NM_198149		201859621	201859621	+1	no_errors	ENST00000362011	ensembl	human	known	69_37n	silent	123	14.58	21	SNP	1.000	T
SIDT2	51092	genome.wustl.edu	37	11	117052206	117052206	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:117052206G>A	ENST00000324225.4	+	2	789	c.258G>A	c.(256-258)caG>caA	p.Q86Q	SIDT2_ENST00000530948.1_3'UTR|SIDT2_ENST00000431081.2_Silent_p.Q86Q	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	86					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TGGTCCGCCAGAAGGAGGCTG	0.602											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													118.0	108.0	111.0					11																	117052206		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.258G>A	11.37:g.117052206G>A		1478	Q8NBY7|Q9Y357	Silent	SNP	NULL	p.Q86	ENST00000324225.4	37	c.258	CCDS31682.1	11																																																																																			SIDT2	-	NULL	ENSG00000149577		0.602	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	HGNC	protein_coding	OTTHUMT00000392836.1	23	0.00	0	G	NM_015996		117052206	117052206	+1	no_errors	ENST00000278951	ensembl	human	known	69_37n	silent	19	24.00	6	SNP	1.000	A
SIPA1L1	26037	genome.wustl.edu	37	14	72206007	72206007	+	3'UTR	SNP	G	G	A	rs572599815		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:72206007G>A	ENST00000555818.1	+	0	5892				SIPA1L1_ENST00000537413.1_3'UTR|SIPA1L1_ENST00000381232.3_3'UTR|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1						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)		CCCTTTCGGGGAGTGCACAAC	0.423																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_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.*129G>A	14.37:g.72206007G>A			J3KP19|O95321|Q9UDU4|Q9UNU4	RNA	SNP	-	NULL	ENST00000555818.1	37	NULL	CCDS9807.1	14																																																																																			SIPA1L1	-	-	ENSG00000197555		0.423	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	39	0.00	0	G	NM_015556		72206007	72206007	+1	no_errors	ENST00000554874	ensembl	human	known	69_37n	rna	54	21.74	15	SNP	0.239	A
SIPA1L2	57568	genome.wustl.edu	37	1	232551498	232551498	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:232551498C>T	ENST00000366630.1	-	18	4989				SIPA1L2_ENST00000262861.4_Intron|SIPA1L2_ENST00000308942.4_Intron			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2						regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CACCACTGCCCCCTCCCAGAG	0.607																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.4631-127G>A	1.37:g.232551498C>T			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	RNA	SNP	-	NULL	ENST00000366630.1	37	NULL	CCDS41474.1	1																																																																																			SIPA1L2	-	-	ENSG00000116991		0.607	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	54	0.00	0	C	XM_045839		232551498	232551498	-1	no_errors	ENST00000495863	ensembl	human	known	69_37n	rna	49	14.04	8	SNP	0.015	T
SIPA1L3	23094	genome.wustl.edu	37	19	38610238	38610238	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:38610238G>T	ENST00000222345.6	+	9	3093	c.2584G>T	c.(2584-2586)Ggc>Tgc	p.G862C		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	862					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCACGGGCTGGCGCTGAGCA	0.572																																						dbGAP											0													67.0	71.0	69.0					19																	38610238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2584G>T	19.37:g.38610238G>T	ENSP00000222345:p.Gly862Cys		Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.G862C	ENST00000222345.6	37	c.2584	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	G	20.9	4.067226	0.76301	.	.	ENSG00000105738	ENST00000222345	T	0.63096	-0.02	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.68531	0.3011	L	0.55743	1.74	0.80722	D	1	P	0.42908	0.793	P	0.47786	0.557	T	0.70554	-0.4840	10	0.72032	D	0.01	-32.9438	18.7237	0.91705	0.0:0.0:1.0:0.0	.	862	O60292	SI1L3_HUMAN	C	862	ENSP00000222345:G862C	ENSP00000222345:G862C	G	+	1	0	SIPA1L3	43302078	1.000000	0.71417	0.854000	0.33618	0.469000	0.32828	6.747000	0.74872	2.725000	0.93324	0.655000	0.94253	GGC	SIPA1L3	-	NULL	ENSG00000105738		0.572	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	52	0.00	0	G	XM_032278		38610238	38610238	+1	no_errors	ENST00000222345	ensembl	human	known	69_37n	missense	73	31.78	34	SNP	1.000	T
SIRPG	55423	genome.wustl.edu	37	20	1617132	1617132	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:1617132C>T	ENST00000303415.3	-	3	514	c.450G>A	c.(448-450)gtG>gtA	p.V150V	SIRPG_ENST00000381583.2_Silent_p.V150V|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381580.1_Silent_p.V117V|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000216927.4_Silent_p.V150V	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	150	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGCCCAATACCACGGGGGCAG	0.517																																						dbGAP											0													78.0	73.0	75.0					20																	1617132		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.450G>A	20.37:g.1617132C>T			B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.V150	ENST00000303415.3	37	c.450	CCDS13020.2	20																																																																																			SIRPG	-	pfscan_Ig-like	ENSG00000089012		0.517	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPG	HGNC	protein_coding	OTTHUMT00000077566.2	139	0.00	0	C	NM_018556		1617132	1617132	-1	no_errors	ENST00000303415	ensembl	human	known	69_37n	silent	86	15.69	16	SNP	0.010	T
SIRT3	23410	genome.wustl.edu	37	11	230474	230474	+	Missense_Mutation	SNP	G	G	A	rs61748606	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:230474G>A	ENST00000382743.4	-	4	887	c.785C>T	c.(784-786)cCc>cTc	p.P262L	SIRT3_ENST00000525319.1_Missense_Mutation_p.P181L|SIRT3_ENST00000529382.1_Missense_Mutation_p.P120L|SIRT3_ENST00000532956.1_Missense_Mutation_p.P262L|SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000524564.1_Missense_Mutation_p.P198L	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	262	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CCCTGGGAAGGGTCTTTGGCA	0.502																																						dbGAP											0													108.0	95.0	99.0					11																	230474		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.785C>T	11.37:g.230474G>A	ENSP00000372191:p.Pro262Leu		B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	pfam_NAD-dep_deAcase_sirtuin,pirsf_NAD-dep_deAcase_SIR2_euk,pfscan_NAD-dep_deAcase_sirtuin	p.P262L	ENST00000382743.4	37	c.785	CCDS7691.1	11	.	.	.	.	.	.	.	.	.	.	G	9.118	1.008239	0.19199	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.31	2.06	0.26882	.	1.908390	0.02227	N	0.064507	T	0.38825	0.1055	L	0.45352	1.415	0.09310	N	1	B;B;B;B;B	0.28760	0.071;0.221;0.075;0.134;0.221	B;B;B;B;B	0.25987	0.05;0.065;0.021;0.065;0.065	T	0.27502	-1.0072	10	0.37606	T	0.19	2.0E-4	9.2473	0.37534	0.0:0.1215:0.5023:0.3762	.	262;262;181;198;262	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	L	262;181;198;262;120	ENSP00000372191:P262L;ENSP00000435464:P181L;ENSP00000432937:P198L;ENSP00000433077:P262L;ENSP00000437216:P120L	ENSP00000372191:P262L	P	-	2	0	SIRT3	220474	0.085000	0.21516	0.024000	0.17045	0.295000	0.27426	1.660000	0.37397	0.545000	0.28902	0.655000	0.94253	CCC	SIRT3	-	pfam_NAD-dep_deAcase_sirtuin,pirsf_NAD-dep_deAcase_SIR2_euk,pfscan_NAD-dep_deAcase_sirtuin	ENSG00000142082		0.502	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT3	HGNC	protein_coding	OTTHUMT00000239288.3	49	0.00	0	G			230474	230474	-1	no_errors	ENST00000382743	ensembl	human	known	69_37n	missense	90	32.33	43	SNP	0.000	A
SKIV2L	6499	genome.wustl.edu	37	6	31927857	31927857	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:31927857C>T	ENST00000375394.2	+	3	310	c.197C>T	c.(196-198)cCa>cTa	p.P66L	NELFE_ENST00000375429.3_5'Flank|NELFE_ENST00000444811.2_5'Flank|SKIV2L_ENST00000488648.1_3'UTR|NELFE_ENST00000375425.5_5'Flank|SKIV2L_ENST00000544581.1_Intron	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	66					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGTCATCCCCAGCCTGGCTG	0.572																																						dbGAP											0													76.0	72.0	73.0					6																	31927857		1510	2707	4217	-	-	-	SO:0001583	missense	0				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.197C>T	6.37:g.31927857C>T	ENSP00000364543:p.Pro66Leu		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P66L	ENST00000375394.2	37	c.197	CCDS4731.1	6	.	.	.	.	.	.	.	.	.	.	C	25.4	4.636598	0.87760	.	.	ENSG00000204351	ENST00000375394	T	0.49720	0.77	4.61	4.61	0.57282	.	0.060925	0.64402	D	0.000003	T	0.28995	0.0720	M	0.68317	2.08	0.80722	D	1	P	0.37015	0.578	B	0.33799	0.17	T	0.11941	-1.0567	10	0.15952	T	0.53	-11.1264	14.4976	0.67700	0.0:1.0:0.0:0.0	.	66	Q15477	SKIV2_HUMAN	L	66	ENSP00000364543:P66L	ENSP00000364543:P66L	P	+	2	0	SKIV2L	32035836	0.998000	0.40836	0.995000	0.50966	0.996000	0.88848	5.776000	0.68924	2.398000	0.81561	0.655000	0.94253	CCA	SKIV2L	-	pirsf_RNA_helicase_ATP-dep_SK12/DOB1	ENSG00000204351		0.572	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	HGNC	protein_coding	OTTHUMT00000076264.3	65	0.00	0	C			31927857	31927857	+1	no_errors	ENST00000375394	ensembl	human	known	69_37n	missense	55	24.66	18	SNP	0.972	T
SKIV2L	6499	genome.wustl.edu	37	6	31934540	31934540	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:31934540A>T	ENST00000375394.2	+	19	2370	c.2257A>T	c.(2257-2259)Aac>Tac	p.N753Y	SKIV2L_ENST00000544581.1_Missense_Mutation_p.N560Y	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	753	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TATGATCCTCAACTTGCTGCG	0.567																																						dbGAP											0													128.0	116.0	120.0					6																	31934540		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.2257A>T	6.37:g.31934540A>T	ENSP00000364543:p.Asn753Tyr		O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N753Y	ENST00000375394.2	37	c.2257	CCDS4731.1	6	.	.	.	.	.	.	.	.	.	.	A	31	5.081624	0.94050	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.60171	0.36;0.21	5.5	5.5	0.81552	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72382	0.3453	M	0.87827	2.91	0.80722	D	1	D	0.65815	0.995	D	0.66351	0.943	T	0.76176	-0.3055	10	0.46703	T	0.11	-31.8031	14.8853	0.70564	1.0:0.0:0.0:0.0	.	753	Q15477	SKIV2_HUMAN	Y	753;595;560	ENSP00000364543:N753Y;ENSP00000442645:N560Y	ENSP00000364543:N753Y	N	+	1	0	SKIV2L	32042519	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.016000	0.70798	2.224000	0.72417	0.533000	0.62120	AAC	SKIV2L	-	pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C	ENSG00000204351		0.567	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	HGNC	protein_coding	OTTHUMT00000076264.3	82	0.00	0	A			31934540	31934540	+1	no_errors	ENST00000375394	ensembl	human	known	69_37n	missense	58	34.83	31	SNP	1.000	T
SLAMF7	57823	genome.wustl.edu	37	1	160709057	160709057	+	5'UTR	SNP	G	G	A	rs79681994	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:160709057G>A	ENST00000368043.3	+	0	3				SLAMF7_ENST00000458602.2_5'Flank|SLAMF7_ENST00000458104.2_5'Flank|SLAMF7_ENST00000368042.3_5'Flank|SLAMF7_ENST00000441662.2_5'UTR|SLAMF7_ENST00000359331.4_5'Flank|SLAMF7_ENST00000444090.2_5'UTR|SLAMF7_ENST00000488819.1_3'UTR	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7						cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGAGGGAAGTGGCTTCATTTC	0.493																																						dbGAP											0													123.0	107.0	113.0					1																	160709057		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.-35G>A	1.37:g.160709057G>A			A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	RNA	SNP	-	NULL	ENST00000368043.3	37	NULL	CCDS1209.1	1																																																																																			SLAMF7	-	-	ENSG00000026751		0.493	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF7	HGNC	protein_coding	OTTHUMT00000060464.1	214	0.00	0	G	NM_021181		160709057	160709057	+1	no_errors	ENST00000466792	ensembl	human	known	69_37n	rna	143	12.73	21	SNP	0.000	A
SLC11A1	6556	genome.wustl.edu	37	2	219254746	219254746	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:219254746G>T	ENST00000233202.6	+	9	1289	c.949G>T	c.(949-951)Gct>Tct	p.A317S	SLC11A1_ENST00000539932.1_Missense_Mutation_p.A199S	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	317					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACCAACCAGGCTGCGGTGAG	0.562																																						dbGAP											0													137.0	110.0	119.0					2																	219254746		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.949G>T	2.37:g.219254746G>T	ENSP00000233202:p.Ala317Ser		C0H5Y3	Missense_Mutation	SNP	pfam_Nat-R-assoc-macro_Nramp,prints_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp	p.A317S	ENST00000233202.6	37	c.949	CCDS2415.1	2	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127591	0.37533	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.69806	-0.43;-0.43	5.1	4.15	0.48705	.	0.508245	0.20033	N	0.100675	T	0.52191	0.1719	N	0.17278	0.47	0.29827	N	0.830334	B;B;B	0.21753	0.06;0.009;0.009	B;B;B	0.25759	0.063;0.016;0.026	T	0.55792	-0.8085	10	0.54805	T	0.06	-1.6295	14.1553	0.65413	0.0833:0.0:0.9167:0.0	.	317;199;317	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	S	317;199	ENSP00000233202:A317S;ENSP00000443435:A199S	ENSP00000233202:A317S	A	+	1	0	SLC11A1	218962990	0.994000	0.37717	0.990000	0.47175	0.973000	0.67179	3.996000	0.57009	2.650000	0.89964	0.561000	0.74099	GCT	SLC11A1	-	pfam_Nat-R-assoc-macro_Nramp,tigrfam_Nat-R-assoc-macro_Nramp	ENSG00000018280		0.562	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC11A1	HGNC	protein_coding	OTTHUMT00000195076.2	54	0.00	0	G	NM_000578		219254746	219254746	+1	no_errors	ENST00000233202	ensembl	human	known	69_37n	missense	83	12.63	12	SNP	0.998	T
SLC13A3	64849	genome.wustl.edu	37	20	45204268	45204268	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:45204268G>A	ENST00000279027.4	-	10	1294	c.1276C>T	c.(1276-1278)Ccc>Tcc	p.P426S	SLC13A3_ENST00000495082.1_Missense_Mutation_p.P379S|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P379S|SLC13A3_ENST00000435032.1_Intron|SLC13A3_ENST00000413164.2_Missense_Mutation_p.P376S|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P344S|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P344S	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	426					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)	ATGTTCCAGGGCACTGTCTCC	0.622																																						dbGAP											0													91.0	72.0	78.0					20																	45204268		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.1276C>T	20.37:g.45204268G>A	ENSP00000279027:p.Pro426Ser		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.P426S	ENST00000279027.4	37	c.1276	CCDS13400.1	20	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964963	0.92855	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915	T;T;T;T;T;T;T	0.03330	3.97;3.97;3.97;3.97;3.97;3.97;3.97	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.997;1.0	D;D;D;D	0.87578	0.99;0.984;0.943;0.998	T	0.00217	-1.1909	10	0.87932	D	0	-31.8368	17.6296	0.88103	0.0:0.0:1.0:0.0	.	376;344;379;426	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.;.;.;S13A3_HUMAN	S	379;344;426;344;376;379;379	ENSP00000290317:P379S;ENSP00000379648:P344S;ENSP00000279027:P426S;ENSP00000420177:P344S;ENSP00000415852:P376S;ENSP00000419621:P379S;ENSP00000417784:P379S	ENSP00000279027:P426S	P	-	1	0	SLC13A3	44637675	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.731000	0.98807	2.399000	0.81585	0.655000	0.94253	CCC	SLC13A3	-	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	ENSG00000158296		0.622	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A3	HGNC	protein_coding	OTTHUMT00000080329.2	17	0.00	0	G			45204268	45204268	-1	no_errors	ENST00000279027	ensembl	human	known	69_37n	missense	17	34.62	9	SNP	1.000	A
SLC15A1	6564	genome.wustl.edu	37	13	99362133	99362133	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:99362133C>T	ENST00000376503.5	-	12	988	c.933G>A	c.(931-933)atG>atA	p.M311I		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	311					digestion (GO:0007586)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	peptide:proton symporter activity (GO:0015333)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Captopril(DB01197)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftizoxime(DB01332)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Enalapril(DB00584)|Fluvastatin(DB01095)|Fosinopril(DB00492)|Glyburide(DB01016)|L-DOPA(DB01235)|Lisinopril(DB00722)|Methyldopa(DB00968)|Midodrine(DB00211)|Moexipril(DB00691)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTTCCCGGACATAGTTGTTG	0.373																																						dbGAP											0													109.0	108.0	109.0					13																	99362133		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13173	CCDS9489.1	13q32.3	2013-05-22			ENSG00000088386	ENSG00000088386		"""Solute carriers"""	10920	protein-coding gene	gene with protein product	"""peptide transporter HPEPT1"", ""bA551M18.1.1 (solute carrier family 15 (oligopeptide transporter) member 1)"", ""solute carrier family 15 oligopeptide transporter member 1"""	600544				7896779	Standard	NM_005073		Approved	PEPT1, HPECT1, HPEPT1	uc001vno.3	P46059	OTTHUMG00000017255	ENST00000376503.5:c.933G>A	13.37:g.99362133C>T	ENSP00000365686:p.Met311Ile		Q5VW82	Missense_Mutation	SNP	pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Pep_H_symport	p.M311I	ENST00000376503.5	37	c.933	CCDS9489.1	13	.	.	.	.	.	.	.	.	.	.	C	17.20	3.330207	0.60743	.	.	ENSG00000088386	ENST00000376503	T	0.58060	0.36	5.37	5.37	0.77165	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	H	0.97540	4.025	0.80722	D	1	P	0.51933	0.949	P	0.60609	0.877	D	0.87654	0.2530	10	0.87932	D	0	-45.0618	17.2541	0.87050	0.0:1.0:0.0:0.0	.	311	P46059	S15A1_HUMAN	I	311	ENSP00000365686:M311I	ENSP00000365686:M311I	M	-	3	0	SLC15A1	98160134	1.000000	0.71417	0.638000	0.29380	0.124000	0.20399	6.970000	0.76099	2.667000	0.90743	0.561000	0.74099	ATG	SLC15A1	-	pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Pep_H_symport	ENSG00000088386		0.373	SLC15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A1	HGNC	protein_coding	OTTHUMT00000045560.3	237	0.00	0	C	NM_005073		99362133	99362133	-1	no_errors	ENST00000376503	ensembl	human	known	69_37n	missense	109	13.49	17	SNP	1.000	T
SLC16A11	162515	genome.wustl.edu	37	17	6945055	6945055	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:6945055G>A	ENST00000308009.1	-	4	1696	c.1359C>T	c.(1357-1359)ccC>ccT	p.P453P	SLC16A11_ENST00000447225.1_Silent_p.P421P	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	453					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						AGACTGCCTGGGGAGCGGGAA	0.592																																						dbGAP											0													23.0	28.0	26.0					17																	6945055		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.1359C>T	17.37:g.6945055G>A				Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P453	ENST00000308009.1	37	c.1359	CCDS11086.1	17																																																																																			SLC16A11	-	NULL	ENSG00000174326		0.592	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC16A11	HGNC	protein_coding	OTTHUMT00000219921.1	17	0.00	0	G	NM_153357		6945055	6945055	-1	no_errors	ENST00000308009	ensembl	human	known	69_37n	silent	14	22.22	4	SNP	0.001	A
SLC20A1	6574	genome.wustl.edu	37	2	113404598	113404598	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:113404598C>T	ENST00000272542.3	+	2	732	c.193C>T	c.(193-195)Cta>Tta	p.L65L	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	65					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						AGCCTGCATCCTAGCTAGCAT	0.507																																						dbGAP											0													112.0	104.0	107.0					2																	113404598		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.193C>T	2.37:g.113404598C>T			Q08344|Q6DHX8|Q9UQ82	Silent	SNP	pfam_Phos_transporter	p.L65	ENST00000272542.3	37	c.193	CCDS2099.1	2																																																																																			SLC20A1	-	pfam_Phos_transporter	ENSG00000144136		0.507	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A1	HGNC	protein_coding	OTTHUMT00000254086.2	77	0.00	0	C	NM_005415		113404598	113404598	+1	no_errors	ENST00000272542	ensembl	human	known	69_37n	silent	51	17.74	11	SNP	1.000	T
SLC20A1	6574	genome.wustl.edu	37	2	113404674	113404674	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:113404674T>C	ENST00000272542.3	+	2	808	c.269T>C	c.(268-270)aTt>aCt	p.I90T	AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	90					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						AAGGGCTTGATTGACGTGGAG	0.507																																						dbGAP											0													160.0	142.0	148.0					2																	113404674		2203	4300	6503	-	-	-	SO:0001583	missense	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.269T>C	2.37:g.113404674T>C	ENSP00000272542:p.Ile90Thr		Q08344|Q6DHX8|Q9UQ82	Missense_Mutation	SNP	pfam_Phos_transporter	p.I90T	ENST00000272542.3	37	c.269	CCDS2099.1	2	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411175	0.83340	.	.	ENSG00000144136	ENST00000272542	D	0.91011	-2.77	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.93324	0.7872	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93910	0.7196	10	0.87932	D	0	-26.4019	13.545	0.61697	0.0:0.0:0.0:1.0	.	90	Q8WUM9	S20A1_HUMAN	T	90	ENSP00000272542:I90T	ENSP00000272542:I90T	I	+	2	0	SLC20A1	113121145	1.000000	0.71417	0.989000	0.46669	0.988000	0.76386	7.991000	0.88244	2.152000	0.67230	0.482000	0.46254	ATT	SLC20A1	-	pfam_Phos_transporter	ENSG00000144136		0.507	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A1	HGNC	protein_coding	OTTHUMT00000254086.2	86	0.00	0	T	NM_005415		113404674	113404674	+1	no_errors	ENST00000272542	ensembl	human	known	69_37n	missense	48	34.25	25	SNP	1.000	C
SLC22A8	9376	genome.wustl.edu	37	11	62762183	62762184	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:62762183_62762184TT>AA	ENST00000336232.2	-	8	1181_1182	c.1046_1047AA>TT	c.(1045-1047)gAA>gTT	p.E349V	SLC22A8_ENST00000311438.8_Missense_Mutation_p.E349V|SLC22A8_ENST00000535878.1_Missense_Mutation_p.E226V|SLC22A8_ENST00000545207.1_Missense_Mutation_p.E258V|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000430500.2_Missense_Mutation_p.E349V	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	349					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CTCCAAATTCTTCCACACCCAT	0.535																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1046_1047delinsAA	11.37:g.62762183_62762184delinsAA	ENSP00000337335:p.Glu349Val		B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.E349D|p.E349V	ENST00000336232.2	37	c.1047|c.1046	CCDS8042.1	11																																																																																			SLC22A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000149452		0.535	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	HGNC	protein_coding	OTTHUMT00000396191.1	150	0.00	0	T	NM_004254		62762183|62762184	62762183|62762184	-1	no_errors	ENST00000336232	ensembl	human	known	69_37n	missense	55	18.84|17.65	13|12	SNP	0.970|0.987	A
SLC26A9	115019	genome.wustl.edu	37	1	205884082	205884082	+	3'UTR	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:205884082G>A	ENST00000367135.3	-	0	2892				SLC26A9_ENST00000340781.4_Nonsense_Mutation_p.Q868*|SLC26A9_ENST00000367134.2_Nonsense_Mutation_p.Q868*	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9						anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GACACTTTTTGAAGCTTGTAC	0.527																																						dbGAP											0													142.0	135.0	137.0					1																	205884082		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.*403C>T	1.37:g.205884082G>A			A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Nonsense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.Q868*	ENST00000367135.3	37	c.2602	CCDS30990.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.811353	0.96975	.	.	ENSG00000174502	ENST00000340781;ENST00000367134	.	.	.	4.44	-2.78	0.05859	.	6.986190	0.00357	N	0.000032	.	.	.	.	.	.	0.35845	D	0.826308	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	4.8414	0.13492	0.6082:0.0:0.2231:0.1687	.	.	.	.	X	868	.	ENSP00000341682:Q868X	Q	-	1	0	SLC26A9	204150705	0.000000	0.05858	0.000000	0.03702	0.508000	0.34012	-0.310000	0.08135	-0.386000	0.07821	0.462000	0.41574	CAA	SLC26A9	-	NULL	ENSG00000174502		0.527	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A9	HGNC	protein_coding	OTTHUMT00000087742.1	89	0.00	0	G	NM_052934		205884082	205884082	-1	no_errors	ENST00000340781	ensembl	human	known	69_37n	nonsense	64	42.34	47	SNP	0.000	A
SLC27A1	376497	genome.wustl.edu	37	19	17611304	17611304	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:17611304G>A	ENST00000252595.7	+	9	1431	c.1334G>A	c.(1333-1335)gGg>gAg	p.G445E	SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Splice_Site_p.G266E|SLC27A1_ENST00000442725.1_Splice_Site_p.G445E	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	445	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCTCCCTAGGGGAGCCTGGC	0.677																																						dbGAP											0													32.0	31.0	32.0					19																	17611304		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1334-1G>A	19.37:g.17611304G>A			A6NIH2|B7Z662	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G445E	ENST00000252595.7	37	c.1334	CCDS32953.1	19	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407271	0.62399	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	D;D	0.83335	-1.71;-1.71	4.01	4.01	0.46588	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.90428	0.7003	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.91085	0.4902	9	.	.	.	.	13.661	0.62368	0.0:0.0:1.0:0.0	.	266;445	B7Z662;Q6PCB7	.;S27A1_HUMAN	E	445	ENSP00000413424:G445E;ENSP00000252595:G445E	.	G	+	2	0	SLC27A1	17472304	1.000000	0.71417	0.993000	0.49108	0.444000	0.32077	9.124000	0.94394	2.072000	0.62099	0.462000	0.41574	GGG	SLC27A1	-	pfam_AMP-dep_Synth/Lig	ENSG00000130304		0.677	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A1	HGNC	protein_coding	OTTHUMT00000464145.1	29	0.00	0	G	NM_198580	Missense_Mutation	17611304	17611304	+1	no_errors	ENST00000252595	ensembl	human	known	69_37n	missense	27	68.24	58	SNP	1.000	A
SLC35C1	55343	genome.wustl.edu	37	11	45832507	45832507	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:45832507G>A	ENST00000314134.3	+	2	2112	c.716G>A	c.(715-717)tGc>tAc	p.C239Y	SLC35C1_ENST00000456334.1_Missense_Mutation_p.C226Y|CTD-2210P24.6_ENST00000534128.1_lincRNA|SLC35C1_ENST00000442528.2_Missense_Mutation_p.C226Y	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	239					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GTCAACGCCTGCATCCTCTTC	0.627																																						dbGAP											0													57.0	54.0	55.0					11																	45832507		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.716G>A	11.37:g.45832507G>A	ENSP00000313318:p.Cys239Tyr		B2RDB2|Q9BV76|Q9NUJ8	Missense_Mutation	SNP	pfam_DUF250,pfam_UAA,pfam_DMT	p.C239Y	ENST00000314134.3	37	c.716	CCDS7914.1	11	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637825	0.67130	.	.	ENSG00000181830	ENST00000442528;ENST00000456334;ENST00000530670;ENST00000314134;ENST00000540685	T;T;T	0.62788	-0.0;-0.0;-0.0	6.17	6.17	0.99709	Domain of unknown function DUF250 (1);	0.133396	0.64402	D	0.000001	T	0.77418	0.4127	M	0.72894	2.215	0.53005	D	0.999962	D	0.64830	0.994	P	0.60236	0.871	T	0.73072	-0.4098	10	0.37606	T	0.19	-35.5744	20.8794	0.99867	0.0:0.0:1.0:0.0	.	239	Q96A29	FUCT1_HUMAN	Y	226;226;160;239;239	ENSP00000412408:C226Y;ENSP00000399779:C226Y;ENSP00000313318:C239Y	ENSP00000313318:C239Y	C	+	2	0	SLC35C1	45789083	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	6.259000	0.72494	2.941000	0.99782	0.655000	0.94253	TGC	SLC35C1	-	pfam_DUF250,pfam_UAA	ENSG00000181830		0.627	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35C1	HGNC	protein_coding	OTTHUMT00000390139.1	20	0.00	0	G	NM_018389		45832507	45832507	+1	no_errors	ENST00000314134	ensembl	human	known	69_37n	missense	22	43.59	17	SNP	0.999	A
SLC36A2	153201	genome.wustl.edu	37	5	150726864	150726864	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:150726864C>T	ENST00000335244.4	-	1	287	c.158G>A	c.(157-159)gGc>gAc	p.G53D	SLC36A2_ENST00000521967.1_Missense_Mutation_p.G53D	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	53					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TCACGTTATGCCCTTGGTCTT	0.488																																						dbGAP											0													165.0	155.0	159.0					5																	150726864		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.158G>A	5.37:g.150726864C>T	ENSP00000334223:p.Gly53Asp		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.G53D	ENST00000335244.4	37	c.158	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145557	0.77888	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.02395	4.31;4.31	4.87	4.87	0.63330	.	0.050024	0.85682	D	0.000000	T	0.14442	0.0349	M	0.85945	2.785	0.80722	D	1	D;D;P	0.63046	0.992;0.96;0.607	D;P;B	0.66497	0.944;0.883;0.403	T	0.10451	-1.0629	10	0.18710	T	0.47	-21.9335	15.2373	0.73441	0.0:1.0:0.0:0.0	.	53;53;53	B4DMY0;E5RJJ5;Q495M3	.;.;S36A2_HUMAN	D	53	ENSP00000334223:G53D;ENSP00000430535:G53D	ENSP00000334223:G53D	G	-	2	0	SLC36A2	150707057	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.583000	0.53928	2.683000	0.91414	0.655000	0.94253	GGC	SLC36A2	-	pfam_AA_transpt_TM	ENSG00000186335		0.488	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	HGNC	protein_coding	OTTHUMT00000252437.1	323	0.00	0	C			150726864	150726864	-1	no_errors	ENST00000335244	ensembl	human	known	69_37n	missense	172	11.79	23	SNP	1.000	T
SLC38A2	54407	genome.wustl.edu	37	12	46758941	46758941	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:46758941G>A	ENST00000256689.5	-	8	1039	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_Silent_p.L37L	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	199					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GACACCAACAGAACCAAATAG	0.368																																					Ovarian(9;448 492 8335 28722 40361)	dbGAP											0													126.0	127.0	126.0					12																	46758941		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.595C>T	12.37:g.46758941G>A			Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Silent	SNP	pfam_AA_transpt_TM	p.L199	ENST00000256689.5	37	c.595	CCDS8749.1	12																																																																																			SLC38A2	-	pfam_AA_transpt_TM	ENSG00000134294		0.368	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A2	HGNC	protein_coding	OTTHUMT00000404226.1	281	0.00	0	G			46758941	46758941	-1	no_errors	ENST00000256689	ensembl	human	known	69_37n	silent	205	19.92	51	SNP	0.135	A
SLC38A3	10991	genome.wustl.edu	37	3	50257527	50257527	+	RNA	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:50257527G>A	ENST00000420502.1	+	0	1586									solute carrier family 38, member 3											breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)		GCTATGCTTGGCTTCTTGCTG	0.572																																						dbGAP											0													115.0	106.0	109.0					3																	50257527		2049	4190	6239	-	-	-			0			U49082	CCDS74940.1	3p21.3	2013-05-22			ENSG00000188338	ENSG00000188338		"""Solute carriers"""	18044	protein-coding gene	gene with protein product		604437				10619430, 10823827	Standard	XM_006712954		Approved	G17, SN1	uc003cyn.4	Q99624	OTTHUMG00000156764		3.37:g.50257527G>A				RNA	SNP	-	NULL	ENST00000420502.1	37	NULL		3																																																																																			SLC38A3	-	-	ENSG00000188338		0.572	SLC38A3-001	KNOWN	sequence_error|basic	processed_transcript	SLC38A3	HGNC	processed_transcript	OTTHUMT00000345635.2	10	0.00	0	G	NM_006841		50257527	50257527	+1	no_errors	ENST00000420502	ensembl	human	known	69_37n	rna	9	35.71	5	SNP	1.000	A
SLC38A7	55238	genome.wustl.edu	37	16	58713828	58713828	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:58713828C>T	ENST00000570101.1	-	2	1086	c.203G>A	c.(202-204)gGg>gAg	p.G68E	SLC38A7_ENST00000564100.1_Missense_Mutation_p.G68E|SLC38A7_ENST00000564010.1_Intron|SLC38A7_ENST00000566953.1_Intron|SLC38A7_ENST00000219320.4_Missense_Mutation_p.G68E|SLC38A7_ENST00000564391.1_Missense_Mutation_p.G68E			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	68					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)	p.G68V(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						GTTGAGTAACCCTGCACCCAG	0.637																																						dbGAP											1	Substitution - Missense(1)	lung(1)											50.0	47.0	48.0					16																	58713828		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.203G>A	16.37:g.58713828C>T	ENSP00000454646:p.Gly68Glu		Q53GJ9|Q9H9I5	Missense_Mutation	SNP	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	p.G68E	ENST00000570101.1	37	c.203	CCDS10800.1	16	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323271	0.60634	.	.	ENSG00000103042	ENST00000219320	T	0.06528	3.29	5.66	4.72	0.59763	.	0.043006	0.85682	N	0.000000	T	0.25531	0.0621	M	0.82823	2.61	0.80722	D	1	B;D	0.64830	0.422;0.994	B;D	0.66847	0.231;0.947	T	0.01977	-1.1236	9	.	.	.	.	13.5734	0.61860	0.0:0.9255:0.0:0.0745	.	68;68	Q9NVC3;Q9NVC3-2	S38A7_HUMAN;.	E	68	ENSP00000219320:G68E	.	G	-	2	0	SLC38A7	57271329	1.000000	0.71417	0.181000	0.23098	0.001000	0.01503	7.398000	0.79919	1.402000	0.46780	0.561000	0.74099	GGG	SLC38A7	-	pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease	ENSG00000103042		0.637	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC38A7	HGNC	protein_coding	OTTHUMT00000422206.2	26	0.00	0	C	NM_018231		58713828	58713828	-1	no_errors	ENST00000219320	ensembl	human	known	69_37n	missense	22	40.54	15	SNP	0.998	T
SLC39A3	29985	genome.wustl.edu	37	19	2737120	2737120	+	Missense_Mutation	SNP	G	G	A	rs201898831		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:2737120G>A	ENST00000269740.4	-	2	465	c.136C>T	c.(136-138)Ctc>Ttc	p.L46F	SLC39A3_ENST00000590875.1_5'Flank|SLC39A3_ENST00000545664.1_Missense_Mutation_p.L46F|SLC39A3_ENST00000455372.2_Missense_Mutation_p.L46F|AC006538.4_ENST00000586572.1_Missense_Mutation_p.L46F	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	46					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.L46F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTTGCAGAGAGAGAGGATC	0.572																																						dbGAP											1	Substitution - Missense(1)	skin(1)											114.0	97.0	102.0					19																	2737120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF052125	CCDS12093.1, CCDS45909.1	19p13.3	2013-05-22			ENSG00000141873	ENSG00000141873		"""Solute carriers"""	17128	protein-coding gene	gene with protein product		612168				10681536	Standard	NM_144564		Approved	ZIP3	uc002lwg.3	Q9BRY0		ENST00000269740.4:c.136C>T	19.37:g.2737120G>A	ENSP00000269740:p.Leu46Phe		B3KMJ3|Q8WUG1	Missense_Mutation	SNP	pfam_ZIP	p.L46F	ENST00000269740.4	37	c.136	CCDS12093.1	19	.	.	.	.	.	.	.	.	.	.	G	14.15	2.449877	0.43531	.	.	ENSG00000141873	ENST00000545664;ENST00000269740;ENST00000455372	T;T;T	0.50001	0.76;0.76;0.76	4.89	3.84	0.44239	.	0.073893	0.56097	D	0.000033	T	0.55289	0.1911	L	0.53617	1.68	0.50632	D	0.999887	B;P;B	0.50272	0.285;0.933;0.024	B;P;B	0.56700	0.08;0.804;0.053	T	0.49771	-0.8904	10	0.19147	T	0.46	-19.4768	13.8872	0.63714	0.0:0.1544:0.8455:0.0	.	46;46;46	F5H385;Q9BRY0-2;Q9BRY0	.;.;S39A3_HUMAN	F	46	ENSP00000445345:L46F;ENSP00000269740:L46F;ENSP00000393715:L46F	ENSP00000269740:L46F	L	-	1	0	SLC39A3	2688120	1.000000	0.71417	0.903000	0.35520	0.971000	0.66376	4.800000	0.62524	1.033000	0.39918	0.561000	0.74099	CTC	SLC39A3	-	pfam_ZIP	ENSG00000141873		0.572	SLC39A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A3	HGNC	protein_coding	OTTHUMT00000451354.2	22	0.00	0	G			2737120	2737120	-1	no_errors	ENST00000269740	ensembl	human	known	69_37n	missense	36	40.98	25	SNP	0.994	A
SLC41A1	254428	genome.wustl.edu	37	1	205760783	205760783	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:205760783G>A	ENST00000367137.3	-	11	2434	c.1420C>T	c.(1420-1422)Ccg>Tcg	p.P474S	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	474					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)			AAGTTGTCCGGGTCCAGGCCC	0.597											OREG0014162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													56.0	57.0	56.0					1																	205760783		2203	4300	6503	-	-	-	SO:0001583	missense	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.1420C>T	1.37:g.205760783G>A	ENSP00000356105:p.Pro474Ser	2154	Q63HJ4|Q658Z5|Q659A4|Q6MZK2	Missense_Mutation	SNP	pfam_MgtE_Mg_transptr_membr	p.P474S	ENST00000367137.3	37	c.1420	CCDS30988.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.269766	0.95429	.	.	ENSG00000133065	ENST00000367137	T	0.74002	-0.8	5.65	5.65	0.86999	MgtE magnesium transporter, integral membrane (1);	0.000000	0.85682	D	0.000000	D	0.88621	0.6486	M	0.87971	2.92	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89571	0.3813	10	0.62326	D	0.03	-37.933	19.3001	0.94141	0.0:0.0:1.0:0.0	.	474	Q8IVJ1	S41A1_HUMAN	S	474	ENSP00000356105:P474S	ENSP00000356105:P474S	P	-	1	0	SLC41A1	204027406	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	9.860000	0.99555	2.651000	0.90000	0.655000	0.94253	CCG	SLC41A1	-	pfam_MgtE_Mg_transptr_membr	ENSG00000133065		0.597	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A1	HGNC	protein_coding	OTTHUMT00000087731.1	45	0.00	0	G			205760783	205760783	-1	no_errors	ENST00000367137	ensembl	human	known	69_37n	missense	59	23.38	18	SNP	1.000	A
SLC5A5	6528	genome.wustl.edu	37	19	17992986	17992986	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:17992986C>T	ENST00000222248.3	+	10	1547	c.1200C>T	c.(1198-1200)acC>acT	p.T400T		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	400					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGTCTCACCGTGGCAGCCC	0.647																																					Melanoma(65;1008 1708 7910 46650)	dbGAP											0													107.0	85.0	92.0					19																	17992986		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		ENST00000222248.3:c.1200C>T	19.37:g.17992986C>T			O43702|Q2M335|Q9NYB6	Silent	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.T400	ENST00000222248.3	37	c.1200	CCDS12368.1	19																																																																																			SLC5A5	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000105641		0.647	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1	46	0.00	0	C			17992986	17992986	+1	no_errors	ENST00000222248	ensembl	human	known	69_37n	silent	33	10.81	4	SNP	0.004	T
SLC6A13	6540	genome.wustl.edu	37	12	331755	331755	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:331755G>A	ENST00000343164.4	-	13	1510	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y	SLC6A13_ENST00000539668.1_5'UTR|SLC6A13_ENST00000445055.2_Silent_p.Y394Y	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	486					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GCCATGGCCTGTACCCAATCA	0.483																																						dbGAP											0													92.0	79.0	83.0					12																	331755		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1458C>T	12.37:g.331755G>A			B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.Y486	ENST00000343164.4	37	c.1458	CCDS8502.1	12																																																																																			SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000010379		0.483	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	25	0.00	0	G	NM_016615		331755	331755	-1	no_errors	ENST00000343164	ensembl	human	known	69_37n	silent	17	26.09	6	SNP	1.000	A
SLC6A13	6540	genome.wustl.edu	37	12	351808	351808	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:351808C>G	ENST00000343164.4	-	4	502	c.450G>C	c.(448-450)tgG>tgC	p.W150C	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	150					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGCAGCCGCCCCAGGGCAGGT	0.552																																						dbGAP											0													97.0	67.0	78.0					12																	351808		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.450G>C	12.37:g.351808C>G	ENSP00000339260:p.Trp150Cys		B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.W150C	ENST00000343164.4	37	c.450	CCDS8502.1	12	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461223	0.84317	.	.	ENSG00000010379	ENST00000313154;ENST00000343164	D	0.86497	-2.13	5.61	5.61	0.85477	.	0.106980	0.64402	D	0.000002	D	0.97176	0.9077	H	0.99855	4.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99004	1.0812	10	0.87932	D	0	.	19.6293	0.95694	0.0:1.0:0.0:0.0	.	129;150	B4DJS3;Q9NSD5	.;S6A13_HUMAN	C	129;150	ENSP00000339260:W150C	ENSP00000318097:W129C	W	-	3	0	SLC6A13	222069	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.810000	0.86072	2.626000	0.88956	0.561000	0.74099	TGG	SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000010379		0.552	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	31	0.00	0	C	NM_016615		351808	351808	-1	no_errors	ENST00000343164	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	1.000	G
SLC6A13	6540	genome.wustl.edu	37	12	351811	351811	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:351811G>A	ENST00000343164.4	-	4	499	c.447C>T	c.(445-447)ccC>ccT	p.P149P	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	149					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AGCCGCCCCAGGGCAGGTCGA	0.552																																						dbGAP											0													100.0	69.0	80.0					12																	351811		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.447C>T	12.37:g.351811G>A			B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.P149	ENST00000343164.4	37	c.447	CCDS8502.1	12																																																																																			SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000010379		0.552	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	28	0.00	0	G	NM_016615		351811	351811	-1	no_errors	ENST00000343164	ensembl	human	known	69_37n	silent	30	16.67	6	SNP	1.000	A
SLC6A13	6540	genome.wustl.edu	37	12	351814	351814	+	Silent	SNP	C	C	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:351814C>A	ENST00000343164.4	-	4	496	c.444G>T	c.(442-444)ctG>ctT	p.L148L	SLC6A13_ENST00000445055.2_Intron	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	148					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CGCCCCAGGGCAGGTCGATGG	0.557																																						dbGAP											0													103.0	71.0	82.0					12																	351814		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.444G>T	12.37:g.351814C>A			B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2	p.L148	ENST00000343164.4	37	c.444	CCDS8502.1	12																																																																																			SLC6A13	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000010379		0.557	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A13	HGNC	protein_coding	OTTHUMT00000397801.1	26	0.00	0	C	NM_016615		351814	351814	-1	no_errors	ENST00000343164	ensembl	human	known	69_37n	silent	28	15.15	5	SNP	0.159	A
SLC6A14	11254	genome.wustl.edu	37	X	115582836	115582836	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:115582836G>A	ENST00000371900.4	+	8	1247		c.e8+1			NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GTAAAATCAGGTATATAATAC	0.303																																						dbGAP											0													55.0	53.0	54.0					X																	115582836		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1159+1G>A	X.37:g.115582836G>A			Q5H942	Splice_Site	SNP	-	e8+1	ENST00000371900.4	37	c.1159+1	CCDS14570.1	X	.	.	.	.	.	.	.	.	.	.	G	19.82	3.899147	0.72754	.	.	ENSG00000087916	ENST00000371900	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4779	0.75501	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC6A14	115496864	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.969000	0.93411	2.248000	0.74166	0.538000	0.68166	.	SLC6A14	-	-	ENSG00000087916		0.303	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1	269	0.00	0	G		Intron	115582836	115582836	+1	no_errors	ENST00000371900	ensembl	human	known	69_37n	splice_site	314	12.50	45	SNP	1.000	A
SLC6A20	54716	genome.wustl.edu	37	3	45800527	45800527	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:45800527G>A	ENST00000358525.4	-	11	1837	c.1722C>T	c.(1720-1722)gcC>gcT	p.A574A	SLC6A20_ENST00000493980.1_5'Flank|SLC6A20_ENST00000456124.2_Intron|SLC6A20_ENST00000353278.4_Silent_p.A537A	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	574					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AAGTCCCCAGGGCCGCCAGGG	0.602																																						dbGAP											0													46.0	51.0	49.0					3																	45800527		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1722C>T	3.37:g.45800527G>A			A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.A574	ENST00000358525.4	37	c.1722	CCDS43077.1	3																																																																																			SLC6A20	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000163817		0.602	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	HGNC	protein_coding	OTTHUMT00000257318.3	24	0.00	0	G	NM_020208		45800527	45800527	-1	no_errors	ENST00000358525	ensembl	human	known	69_37n	silent	22	24.14	7	SNP	1.000	A
SLC6A20	54716	genome.wustl.edu	37	3	45804464	45804464	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:45804464G>A	ENST00000358525.4	-	9	1519	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000456124.2_Silent_p.S468S|SLC6A20_ENST00000353278.4_Silent_p.S431S	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	468					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGAGCAGCAGGGACAGTGTGG	0.557																																						dbGAP											0													214.0	161.0	179.0					3																	45804464		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1404C>T	3.37:g.45804464G>A			A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.S468	ENST00000358525.4	37	c.1404	CCDS43077.1	3																																																																																			SLC6A20	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000163817		0.557	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A20	HGNC	protein_coding	OTTHUMT00000257318.3	83	0.00	0	G	NM_020208		45804464	45804464	-1	no_errors	ENST00000358525	ensembl	human	known	69_37n	silent	36	14.29	6	SNP	0.985	A
SLC7A9	11136	genome.wustl.edu	37	19	33359415	33359415	+	Missense_Mutation	SNP	C	C	T	rs200753692		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:33359415C>T	ENST00000023064.4	-	2	217	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	SLC7A9_ENST00000590341.1_Missense_Mutation_p.R9Q|SLC7A9_ENST00000587772.1_Missense_Mutation_p.R9Q	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	9					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)	p.R9Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	ATCCTCTCTCCGCTTTCTCAG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		17021	0.0		0.001	False		,,,				2504	0.0				GBM(181;1335 2108 9644 44178 46689)	dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											188.0	127.0	147.0					19																	33359415		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.26G>A	19.37:g.33359415C>T	ENSP00000023064:p.Arg9Gln		B2R9A6	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.R9Q	ENST00000023064.4	37	c.26	CCDS12425.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.945	0.743612	0.15642	.	.	ENSG00000021488	ENST00000023064	D	0.89617	-2.54	5.29	4.23	0.50019	.	0.910972	0.09590	N	0.781612	T	0.81088	0.4750	N	0.19112	0.55	0.32224	N	0.574885	B	0.23735	0.09	B	0.14023	0.01	T	0.72127	-0.4384	10	0.13853	T	0.58	.	14.1026	0.65068	0.1519:0.8481:0.0:0.0	.	9	P82251	BAT1_HUMAN	Q	9	ENSP00000023064:R9Q	ENSP00000023064:R9Q	R	-	2	0	SLC7A9	38051255	0.985000	0.35326	0.050000	0.19076	0.360000	0.29518	2.356000	0.44116	1.326000	0.45319	0.462000	0.41574	CGG	SLC7A9	-	NULL	ENSG00000021488		0.557	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	44	0.00	0	C			33359415	33359415	-1	no_errors	ENST00000023064	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	0.747	T
SLC8A3	6547	genome.wustl.edu	37	14	70633608	70633608	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:70633608G>A	ENST00000381269.2	-	2	2285	c.1532C>T	c.(1531-1533)gCt>gTt	p.A511V	SLC8A3_ENST00000528359.1_Missense_Mutation_p.A511V|SLC8A3_ENST00000357887.3_Missense_Mutation_p.A511V|SLC8A3_ENST00000356921.2_Missense_Mutation_p.A511V|SLC8A3_ENST00000534137.1_Missense_Mutation_p.A511V	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	511					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)		GGCTAGGACAGCCCGAGGCAA	0.498																																						dbGAP											0													61.0	60.0	60.0					14																	70633608		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.1532C>T	14.37:g.70633608G>A	ENSP00000370669:p.Ala511Val		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.A511V	ENST00000381269.2	37	c.1532	CCDS35498.1	14	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509606	0.64522	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.41282	0.1152	N	0.08118	0	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.998	D;D;D;D	0.75020	0.985;0.967;0.934;0.934	T	0.41805	-0.9488	10	0.25106	T	0.35	.	19.8067	0.96534	0.0:0.0:1.0:0.0	.	511;511;511;511	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	V	511	ENSP00000349392:A511V;ENSP00000370669:A511V;ENSP00000350560:A511V;ENSP00000436688:A511V;ENSP00000433531:A511V	ENSP00000349392:A511V	A	-	2	0	SLC8A3	69703361	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.994000	0.88315	2.672000	0.90937	0.650000	0.86243	GCT	SLC8A3	-	tigrfam_Na_Ca_Ex	ENSG00000100678		0.498	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	HGNC	protein_coding	OTTHUMT00000390736.1	188	0.53	1	G			70633608	70633608	-1	no_errors	ENST00000381269	ensembl	human	known	69_37n	missense	180	13.46	28	SNP	1.000	A
SLC9A1	6548	genome.wustl.edu	37	1	27480809	27480809	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:27480809C>T	ENST00000263980.3	-	1	592	c.17G>A	c.(16-18)gGc>gAc	p.G6D	SLC9A1_ENST00000545949.1_5'UTR|SLC9A1_ENST00000374086.3_Missense_Mutation_p.G6D	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	6					carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GCCACAGATGCCAGACCGCAG	0.572																																						dbGAP											0													74.0	61.0	66.0					1																	27480809		2202	4300	6502	-	-	-	SO:0001583	missense	0			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.17G>A	1.37:g.27480809C>T	ENSP00000263980:p.Gly6Asp		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.G6D	ENST00000263980.3	37	c.17	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329910	0.60743	.	.	ENSG00000090020	ENST00000263980;ENST00000374086;ENST00000374084	T;T	0.71222	0.45;-0.55	4.53	3.6	0.41247	.	0.311108	0.23563	N	0.046840	T	0.63082	0.2481	N	0.19112	0.55	0.35005	D	0.756316	P;D	0.60160	0.846;0.987	B;P	0.51516	0.261;0.672	T	0.73113	-0.4085	10	0.72032	D	0.01	.	10.0739	0.42349	0.0:0.7695:0.2305:0.0	.	6;6	P19634-2;P19634	.;SL9A1_HUMAN	D	6	ENSP00000263980:G6D;ENSP00000363199:G6D	ENSP00000263980:G6D	G	-	2	0	SLC9A1	27353396	0.042000	0.20092	0.037000	0.18230	0.971000	0.66376	1.185000	0.32065	1.110000	0.41699	0.655000	0.94253	GGC	SLC9A1	-	NULL	ENSG00000090020		0.572	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	34	0.00	0	C	NM_003047		27480809	27480809	-1	no_errors	ENST00000263980	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	0.207	T
SLC9C1	285335	genome.wustl.edu	37	3	111993753	111993753	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:111993753G>A	ENST00000305815.5	-	6	856	c.604C>T	c.(604-606)Cat>Tat	p.H202Y	SLC9C1_ENST00000487372.1_Missense_Mutation_p.H202Y	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	202					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CCTAAGGTATGGTTTCTTTTA	0.274																																						dbGAP											0													36.0	41.0	40.0					3																	111993753		2182	4268	6450	-	-	-	SO:0001583	missense	0			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.604C>T	3.37:g.111993753G>A	ENSP00000306627:p.His202Tyr		Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.H202Y	ENST00000305815.5	37	c.604	CCDS33817.1	3	.	.	.	.	.	.	.	.	.	.	G	0.044	-1.272474	0.01421	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.14022	2.54;2.54	5.16	-10.3	0.00346	Cation/H+ exchanger (1);	1.737640	0.02584	N	0.099152	T	0.07458	0.0188	L	0.36672	1.1	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.13407	0.009;0.002	T	0.36065	-0.9763	10	0.02654	T	1	-9.1716	7.0266	0.24944	0.1399:0.0:0.5409:0.3192	.	202;202	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	Y	202	ENSP00000306627:H202Y;ENSP00000420688:H202Y	ENSP00000306627:H202Y	H	-	1	0	SLC9A10	113476443	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-2.009000	0.01455	-2.244000	0.00706	0.609000	0.83330	CAT	SLC9C1	-	pfam_Cation/H_exchanger	ENSG00000172139		0.274	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C1	HGNC	protein_coding	OTTHUMT00000354066.1	150	0.00	0	G	NM_183061		111993753	111993753	-1	no_errors	ENST00000305815	ensembl	human	known	69_37n	missense	81	14.74	14	SNP	0.000	A
SLCO2A1	6578	genome.wustl.edu	37	3	133661563	133661563	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:133661563G>A	ENST00000310926.4	-	11	1784	c.1511C>T	c.(1510-1512)aCa>aTa	p.T504I	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.T428I	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	504					lipid transport (GO:0006869)|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)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GCACGATCCTGTCTTTGCTGA	0.532																																						dbGAP											0													124.0	120.0	121.0					3																	133661563		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1511C>T	3.37:g.133661563G>A	ENSP00000311291:p.Thr504Ile		Q86V98|Q8IUN2	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.T504I	ENST00000310926.4	37	c.1511	CCDS3084.1	3	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833473	0.50951	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.39787	1.06;1.06	5.56	5.56	0.83823	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.390155	0.30969	N	0.008514	T	0.48995	0.1531	L	0.60455	1.87	0.22389	N	0.999148	P;P;P	0.46578	0.88;0.81;0.629	P;B;B	0.48334	0.574;0.327;0.309	T	0.48468	-0.9033	10	0.46703	T	0.11	.	15.1763	0.72913	0.0:0.0:0.8584:0.1416	.	323;428;504	B7Z8J8;E7EU40;Q92959	.;.;SO2A1_HUMAN	I	504;428	ENSP00000311291:T504I;ENSP00000418893:T428I	ENSP00000311291:T504I	T	-	2	0	SLCO2A1	135144253	0.987000	0.35691	0.009000	0.14445	0.049000	0.14656	5.979000	0.70508	2.634000	0.89283	0.561000	0.74099	ACA	SLCO2A1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000174640		0.532	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	68	0.00	0	G	NM_005630		133661563	133661563	-1	no_errors	ENST00000310926	ensembl	human	known	69_37n	missense	47	11.32	6	SNP	0.115	A
SLCO2A1	6578	genome.wustl.edu	37	3	133666198	133666198	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:133666198G>A	ENST00000310926.4	-	9	1470	c.1197C>T	c.(1195-1197)cgC>cgT	p.R399R	SLCO2A1_ENST00000493729.1_Silent_p.R323R	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	399					lipid transport (GO:0006869)|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)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TGGTAGCTATGCGGGGAATGG	0.517																																						dbGAP											0													128.0	114.0	119.0					3																	133666198		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1197C>T	3.37:g.133666198G>A			Q86V98|Q8IUN2	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R399	ENST00000310926.4	37	c.1197	CCDS3084.1	3																																																																																			SLCO2A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000174640		0.517	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO2A1	HGNC	protein_coding	OTTHUMT00000357131.1	73	0.00	0	G	NM_005630		133666198	133666198	-1	no_errors	ENST00000310926	ensembl	human	known	69_37n	silent	80	13.04	12	SNP	0.000	A
SLC9A9	285195	genome.wustl.edu	37	3	143567304	143567304	+	5'UTR	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:143567304C>T	ENST00000316549.6	-	0	69				SLC9A9_ENST00000498717.2_5'UTR	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9						ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GCATTCTGCCCTGGCTTAGTA	0.413																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.-140G>A	3.37:g.143567304C>T			A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	RNA	SNP	-	NULL	ENST00000316549.6	37	NULL	CCDS33872.1	3																																																																																			SLC9A9	-	-	ENSG00000181804		0.413	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	66	0.00	0	C	NM_173653		143567304	143567304	-1	no_errors	ENST00000498717	ensembl	human	known	69_37n	rna	68	17.07	14	SNP	0.984	T
SMARCE1	6605	genome.wustl.edu	37	17	38788511	38788511	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:38788511G>A	ENST00000348513.6	-	8	1430	c.650C>T	c.(649-651)tCa>tTa	p.S217L	SMARCE1_ENST00000578044.1_Missense_Mutation_p.S147L|SMARCE1_ENST00000377808.4_Missense_Mutation_p.S182L|SMARCE1_ENST00000431889.2_Missense_Mutation_p.S199L|SMARCE1_ENST00000544009.1_Missense_Mutation_p.S147L|SMARCE1_ENST00000400122.3_Missense_Mutation_p.S147L|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.S182L	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	217					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|metabolic process (GO:0008152)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|N-acetyltransferase activity (GO:0008080)|protein N-terminus binding (GO:0047485)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)			large_intestine(1)	1		Breast(137;0.000812)				TGTGACAACTGACCGAACGTC	0.463																																						dbGAP											0													132.0	115.0	121.0					17																	38788511		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035262	CCDS11370.1	17q21.2	2006-09-20			ENSG00000073584	ENSG00000073584			11109	protein-coding gene	gene with protein product		603111				9435219	Standard	NM_003079		Approved	BAF57	uc002hux.2	Q969G3	OTTHUMG00000133367	ENST00000348513.6:c.650C>T	17.37:g.38788511G>A	ENSP00000323967:p.Ser217Leu		B3KMC1|B4DFR4|C0IMW4|C0IMW5|C0IMW7|H7C3F6|O43539	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.S217L	ENST00000348513.6	37	c.650	CCDS11370.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.897898|4.897898	0.91962|0.91962	.|.	.|.	ENSG00000073584|ENSG00000073584	ENST00000400122|ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808;ENST00000447024	.|T;T;T	.|0.53206	.|0.63;0.63;2.22	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.64103	.|0.2568	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.57257	.|0.728;0.844;0.979	.|B;B;P	.|0.51833	.|0.084;0.23;0.681	.|T	.|0.68164	.|-0.5481	.|10	.|0.72032	.|D	.|0.01	.|.	20.0572|20.0572	0.97657|0.97657	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|182;182;217	.|C0IMW5;C0IMW4;Q969G3	.|.;.;SMCE1_HUMAN	X|L	43|217;147;199;182;11	.|ENSP00000323967:S217L;ENSP00000445370:S199L;ENSP00000367039:S182L	.|ENSP00000323967:S217L	Q|S	-|-	1|2	0|0	SMARCE1|SMARCE1	36042037|36042037	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	7.650000|7.650000	0.83521|0.83521	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	CAG|TCA	SMARCE1	-	NULL	ENSG00000073584		0.463	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCE1	HGNC	protein_coding	OTTHUMT00000257203.1	210	0.00	0	G	NM_003079		38788511	38788511	-1	no_errors	ENST00000348513	ensembl	human	known	69_37n	missense	198	24.33	64	SNP	1.000	A
SMG5	23381	genome.wustl.edu	37	1	156230287	156230287	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:156230287G>A	ENST00000361813.5	-	15	2382	c.2238C>T	c.(2236-2238)cgC>cgT	p.R746R	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	746					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CAAAGTTAAAGCGTCTGTGGG	0.542																																						dbGAP											0													102.0	99.0	100.0					1																	156230287		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2238C>T	1.37:g.156230287G>A			D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	pfam_EST1,smart_PINc_nuc-bd	p.R746	ENST00000361813.5	37	c.2238	CCDS1137.1	1																																																																																			SMG5	-	NULL	ENSG00000198952		0.542	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	93	0.00	0	G	NM_015327		156230287	156230287	-1	no_errors	ENST00000361813	ensembl	human	known	69_37n	silent	78	27.78	30	SNP	1.000	A
SMG6	23293	genome.wustl.edu	37	17	2147960	2147960	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:2147960G>A	ENST00000263073.6	-	9	2765	c.2715C>T	c.(2713-2715)acC>acT	p.T905T	SMG6_ENST00000354901.4_5'UTR|SMG6_ENST00000544865.1_Silent_p.T874T	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	905					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						ACCCAATCCGGGTAAACAGCT	0.393											OREG0024081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(59;28 1088 11621 25887 46638 50814)	dbGAP											0													90.0	86.0	87.0					17																	2147960		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.2715C>T	17.37:g.2147960G>A		601	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	pfam_EST1,smart_PINc_nuc-bd	p.T905	ENST00000263073.6	37	c.2715	CCDS11016.1	17																																																																																			SMG6	-	NULL	ENSG00000070366		0.393	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	78	0.00	0	G			2147960	2147960	-1	no_errors	ENST00000263073	ensembl	human	known	69_37n	silent	82	10.87	10	SNP	1.000	A
SMG8	55181	genome.wustl.edu	37	17	57288950	57288950	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:57288950C>T	ENST00000543872.2	+	2	1802	c.1538C>T	c.(1537-1539)tCa>tTa	p.S513L	SMG8_ENST00000578922.1_Missense_Mutation_p.S513L|SMG8_ENST00000300917.5_Missense_Mutation_p.S513L|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	513					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GCCTACCAGTCAAATTTGCCT	0.418																																						dbGAP											0													83.0	75.0	78.0					17																	57288950		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1538C>T	17.37:g.57288950C>T	ENSP00000438748:p.Ser513Leu		Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	pfam_Smg8/Smg9	p.S513L	ENST00000543872.2	37	c.1538	CCDS11615.1	17	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424772	0.83667	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.48836	0.8;0.8	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	L	0.51422	1.61	0.80722	D	1	D	0.63046	0.992	P	0.61658	0.892	T	0.60525	-0.7246	10	0.51188	T	0.08	-11.6891	18.9389	0.92597	0.0:1.0:0.0:0.0	.	513	Q8ND04	SMG8_HUMAN	L	513	ENSP00000300917:S513L;ENSP00000438748:S513L	ENSP00000300917:S513L	S	+	2	0	SMG8	54643732	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.705000	0.92388	0.655000	0.94253	TCA	SMG8	-	pfam_Smg8/Smg9	ENSG00000167447		0.418	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG8	HGNC	protein_coding	OTTHUMT00000445960.2	117	0.00	0	C	NM_018149		57288950	57288950	+1	no_errors	ENST00000300917	ensembl	human	known	69_37n	missense	113	16.30	22	SNP	1.000	T
SMYD5	10322	genome.wustl.edu	37	2	73452545	73452545	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:73452545C>T	ENST00000389501.4	+	12	1080				PRADC1_ENST00000480093.1_5'Flank	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5								metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AACCAGTCTCCTCTGTCTCAG	0.572																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.1036-214C>T	2.37:g.73452545C>T			D6W5H3|Q13558	RNA	SNP	-	NULL	ENST00000389501.4	37	NULL	CCDS33221.2	2																																																																																			SMYD5	-	-	ENSG00000135632		0.572	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	HGNC	protein_coding	OTTHUMT00000318301.1	45	0.00	0	C	NM_006062		73452545	73452545	+1	no_errors	ENST00000486518	ensembl	human	known	69_37n	rna	32	15.79	6	SNP	0.000	T
SMPD4	55627	genome.wustl.edu	37	2	130934150	130934150	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:130934150G>A	ENST00000409031.1	-	2	1281	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	SMPD4_ENST00000351288.6_Silent_p.L45L|SMPD4_ENST00000339679.7_5'UTR|SMPD4_ENST00000431183.2_Silent_p.L45L|SMPD4_ENST00000453750.1_Silent_p.L45L|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000426662.2_5'UTR|SMPD4_ENST00000452225.2_5'UTR|SMPD4_ENST00000443958.2_5'UTR	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	6					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GGCTGCTGCAGGTGAGGGAAC	0.463																																						dbGAP											0													71.0	70.0	70.0					2																	130934150		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.133C>T	2.37:g.130934150G>A			B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	NULL	p.L45	ENST00000409031.1	37	c.133	CCDS42751.1	2																																																																																			SMPD4	-	NULL	ENSG00000136699		0.463	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD4	HGNC	protein_coding	OTTHUMT00000254516.3	52	0.00	0	G	NM_017751		130934150	130934150	-1	no_errors	ENST00000409031	ensembl	human	known	69_37n	silent	49	31.94	23	SNP	0.989	A
SNAP47	116841	genome.wustl.edu	37	1	227947065	227947065	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:227947065G>A	ENST00000366759.4	+	3	1416	c.1002G>A	c.(1000-1002)gaG>gaA	p.E334E	SNAP47_ENST00000366760.1_Silent_p.E92E|SNAP47_ENST00000315781.5_Silent_p.E334E	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	334					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AGATGCCAGAGGTTATCCCCA	0.483																																						dbGAP											0													131.0	121.0	124.0					1																	227947065		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1002G>A	1.37:g.227947065G>A			B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	pfscan_T_SNARE_dom	p.G326S	ENST00000366759.4	37	c.976	CCDS1562.1	1	.	.	.	.	.	.	.	.	.	.	G	0.975	-0.698878	0.03279	.	.	ENSG00000143740	ENST00000418653;ENST00000426344	.	.	.	4.98	-0.379	0.12493	.	.	.	.	.	T	0.40015	0.1100	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21965	-1.0230	4	.	.	.	-12.3264	1.0862	0.01653	0.3678:0.1464:0.3361:0.1498	.	.	.	.	S	147;326	.	.	G	+	1	0	SNAP47	226013688	0.886000	0.30341	0.814000	0.32528	0.177000	0.22998	-0.006000	0.12833	-0.228000	0.09869	-0.350000	0.07774	GGT	SNAP47	-	NULL	ENSG00000143740		0.483	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP47	HGNC	protein_coding	OTTHUMT00000091961.1	78	0.00	0	G	NM_053052		227947065	227947065	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000426344	ensembl	human	known	69_37n	missense	55	19.12	13	SNP	0.917	A
SNHG14	104472715	genome.wustl.edu	37	15	25442564	25442564	+	RNA	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:25442564C>T	ENST00000424208.1	+	0	1540				SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNORD115-15_ENST00000364809.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACTGGGCCCACTGGCCCCGGG	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.25442564C>T				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.607	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	14	0.00	0	C			25442564	25442564	+1	no_errors	ENST00000424208	ensembl	human	known	69_37n	rna	26	25.71	9	SNP	0.006	T
SNRPD2	6633	genome.wustl.edu	37	19	46190964	46190964	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:46190964C>T	ENST00000342669.3	-	3	648	c.204G>A	c.(202-204)gaG>gaA	p.E68E	SNRPD2_ENST00000587367.1_Silent_p.E58E|SNRPD2_ENST00000588301.1_Silent_p.E68E|SNRPD2_ENST00000585392.1_Silent_p.E4E|SNRPD2_ENST00000590212.1_Missense_Mutation_p.R77K|SNRPD2_ENST00000588599.1_Silent_p.E58E|SNRPD2_ENST00000391932.3_Silent_p.E58E	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	68					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CCTTCACGTTCTCCAGCACCA	0.597																																						dbGAP											0													119.0	92.0	101.0					19																	46190964		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.204G>A	19.37:g.46190964C>T			A8K797|J3KPM5|P43330	Missense_Mutation	SNP	superfamily_LSM_dom	p.R77K	ENST00000342669.3	37	c.230	CCDS33053.1	19																																																																																			SNRPD2	-	NULL	ENSG00000125743		0.597	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRPD2	HGNC	protein_coding	OTTHUMT00000459648.1	106	0.00	0	C	NM_004597		46190964	46190964	-1	no_errors	ENST00000590212	ensembl	human	putative	69_37n	missense	51	47.96	47	SNP	1.000	T
SNX19	399979	genome.wustl.edu	37	11	130780195	130780195	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:130780195G>A	ENST00000265909.4	-	3	2453	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	SNX19_ENST00000534726.1_5'Flank|SNX19_ENST00000530356.1_Silent_p.A8A|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Silent_p.A71A|SNX19_ENST00000533214.1_Silent_p.A628A|SNX19_ENST00000528555.1_Silent_p.A8A|SNX19_ENST00000545537.1_5'UTR	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	628	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)		GGCTCTTACGGGCTTCTACTC	0.423																																						dbGAP											0													86.0	87.0	87.0					11																	130780195		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	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.1884C>T	11.37:g.130780195G>A			E9PKB9|Q8IV55	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.A628	ENST00000265909.4	37	c.1884	CCDS31721.1	11																																																																																			SNX19	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000120451		0.423	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	101	0.00	0	G	NM_014758		130780195	130780195	-1	no_errors	ENST00000265909	ensembl	human	known	69_37n	silent	62	37.37	37	SNP	1.000	A
SNX29	92017	genome.wustl.edu	37	16	12145796	12145796	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:12145796G>A	ENST00000566228.1	+	8	910	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	SNX29_ENST00000306030.3_5'Flank|SNX29_ENST00000323433.4_5'Flank	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	281						extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTCTGGGGACGTGTTTAAAAA	0.483																																						dbGAP											0													75.0	84.0	81.0					16																	12145796		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.841G>A	16.37:g.12145796G>A	ENSP00000456480:p.Val281Met		B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.V281M	ENST00000566228.1	37	c.841	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	G	5.070	0.198495	0.09652	.	.	ENSG00000140660	ENST00000268271	.	.	.	5.91	1.78	0.24846	.	0.808524	0.11367	N	0.571249	T	0.33118	0.0852	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25676	-1.0125	6	0.27785	T	0.31	-10.7545	8.0147	0.30374	0.4679:0.0:0.5321:0.0	.	.	.	.	M	281	.	ENSP00000268271:V281M	V	+	1	0	RUNDC2A	12053297	0.000000	0.05858	0.011000	0.14972	0.100000	0.18952	0.192000	0.17096	0.563000	0.29222	-0.362000	0.07510	GTG	SNX29	-	NULL	ENSG00000048471		0.483	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	163	0.00	0	G			12145796	12145796	+1	no_errors	ENST00000268271	ensembl	human	known	69_37n	missense	120	18.37	27	SNP	0.020	A
SOGA3	387104	genome.wustl.edu	37	6	127797388	127797388	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:127797388C>T	ENST00000525778.1	-	6	2528	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K	SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.E595K|SOGA3_ENST00000368268.2_Missense_Mutation_p.E595K|SOGA3_ENST00000556132.1_Missense_Mutation_p.E595K|SOGA3_ENST00000465909.2_Missense_Mutation_p.E595K			Q5TF21	SOGA3_HUMAN	SOGA family member 3	595					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GCTTCTTCCTCCACCAGCCTT	0.572																																						dbGAP											0													122.0	130.0	127.0					6																	127797388		2131	4242	6373	-	-	-	SO:0001583	missense	0			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1783G>A	6.37:g.127797388C>T	ENSP00000434570:p.Glu595Lys			Missense_Mutation	SNP	pfam_DUF3166	p.E595K	ENST00000525778.1	37	c.1783	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599980	0.87055	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.75260	-0.91;-0.91;-0.91;-0.92	5.52	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.80711	0.4675	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83221	-0.0068	10	0.59425	D	0.04	-25.0306	14.6275	0.68632	0.0:0.9292:0.0:0.0708	.	595	Q5TF21	CF174_HUMAN	K	595	ENSP00000451768:E595K;ENSP00000357251:E595K;ENSP00000434570:E595K;ENSP00000435559:E595K	ENSP00000435559:E595K	E	-	1	0	C6orf174	127839081	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.029000	0.70895	1.322000	0.45245	0.561000	0.74099	GAG	SOGA3	-	pfam_DUF3166	ENSG00000214338		0.572	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	115	0.00	0	C	NM_001012279		127797388	127797388	-1	no_errors	ENST00000368268	ensembl	human	known	69_37n	missense	182	10.78	22	SNP	1.000	T
SOX5	6660	genome.wustl.edu	37	12	24048809	24048810	+	Missense_Mutation	DNP	TG	TG	AA			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:24048809_24048810TG>AA	ENST00000451604.2	-	2	288_289	c.187_188CA>TT	c.(187-189)CAc>TTc	p.H63F	SOX5_ENST00000537393.1_Intron|SOX5_ENST00000309359.1_Missense_Mutation_p.H50F|SOX5_ENST00000381381.2_Missense_Mutation_p.H50F|SOX5_ENST00000541847.1_Missense_Mutation_p.H53F|SOX5_ENST00000441133.2_Intron|SOX5_ENST00000545921.1_Missense_Mutation_p.H53F|SOX5_ENST00000546136.1_Missense_Mutation_p.H50F|SOX5_ENST00000541536.1_Missense_Mutation_p.H50F			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	63					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						TTCCTCAGAGTGAGGCTTGTTG	0.5																																						dbGAP											0																																										-	-	-	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.187_188delinsAA	12.37:g.24048809_24048810delinsAA	ENSP00000398273:p.His63Phe		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.H63L|p.H63Y	ENST00000451604.2	37	c.188|c.187	CCDS8699.1	12																																																																																			SOX5	-	NULL	ENSG00000134532		0.500	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	361	0.00	0	T|G	NM_006940		24048809|24048810	24048809|24048810	-1	no_errors	ENST00000451604	ensembl	human	known	69_37n	missense	326|323	48.01|55.40	301|405	SNP	1.000	A
SP3	6670	genome.wustl.edu	37	2	174820216	174820217	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:174820216_174820217insAA	ENST00000310015.6	-	4	1553_1554	c.1023_1024insTT	c.(1021-1026)gttacgfs	p.T342fs	SP3_ENST00000455789.2_Frame_Shift_Ins_p.T289fs|SP3_ENST00000483084.1_5'Flank|SP3_ENST00000418194.2_Frame_Shift_Ins_p.T274fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	342					B cell differentiation (GO:0030183)|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)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTATCTATCGTAACAGGCAACT	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1022_1023dupTT	2.37:g.174820217_174820218dupAA	ENSP00000310301:p.Thr342fs		A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Frame_Shift_Ins	INS	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T341fs	ENST00000310015.6	37	c.1024_1023	CCDS2254.1	2																																																																																			SP3	-	NULL	ENSG00000172845		0.376	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	183	0.00	0	-	NM_003111		174820216	174820217	-1	no_errors	ENST00000310015	ensembl	human	known	69_37n	frame_shift_ins	164	20.00	41	INS	1.000:1.000	AA
SPAG5	10615	genome.wustl.edu	37	17	26919303	26919303	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:26919303G>A	ENST00000321765.5	-	3	1291	c.959C>T	c.(958-960)gCt>gTt	p.A320V		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	320					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGGGCCTGGAGCTTCTTGGGA	0.468																																						dbGAP											0													108.0	101.0	103.0					17																	26919303		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.959C>T	17.37:g.26919303G>A	ENSP00000323300:p.Ala320Val		O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	NULL	p.A320V	ENST00000321765.5	37	c.959	CCDS32594.1	17	.	.	.	.	.	.	.	.	.	.	G	6.281	0.419943	0.11928	.	.	ENSG00000076382	ENST00000321765	T	0.21361	2.01	4.81	0.581	0.17407	.	0.537264	0.17238	N	0.181650	T	0.11965	0.0291	N	0.19112	0.55	0.09310	N	1	B	0.24043	0.096	B	0.22152	0.038	T	0.20840	-1.0263	10	0.49607	T	0.09	0.0235	7.6938	0.28583	0.3477:0.0:0.6523:0.0	.	320	Q96R06	SPAG5_HUMAN	V	320	ENSP00000323300:A320V	ENSP00000323300:A320V	A	-	2	0	SPAG5	23943430	0.037000	0.19845	0.002000	0.10522	0.095000	0.18619	0.519000	0.22862	0.072000	0.16694	0.655000	0.94253	GCT	SPAG5	-	NULL	ENSG00000076382		0.468	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG5	HGNC	protein_coding	OTTHUMT00000390564.2	71	0.00	0	G	NM_006461		26919303	26919303	-1	no_errors	ENST00000321765	ensembl	human	known	69_37n	missense	121	15.38	22	SNP	0.002	A
SPEN	23013	genome.wustl.edu	37	1	16256400	16256400	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:16256400C>T	ENST00000375759.3	+	11	3869	c.3665C>T	c.(3664-3666)tCt>tTt	p.S1222F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1222					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)		ACTGATGACTCTCCTCCTAGC	0.433																																						dbGAP											0													97.0	88.0	91.0					1																	16256400		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.3665C>T	1.37:g.16256400C>T	ENSP00000364912:p.Ser1222Phe		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.S1222F	ENST00000375759.3	37	c.3665	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712493	0.30322	.	.	ENSG00000065526	ENST00000375759	T	0.12255	2.7	4.71	4.71	0.59529	.	.	.	.	.	T	0.11537	0.0281	N	0.20986	0.625	0.52501	D	0.999959	B	0.29188	0.236	B	0.24848	0.056	T	0.12708	-1.0537	9	0.46703	T	0.11	-19.836	17.8542	0.88758	0.0:1.0:0.0:0.0	.	1222	Q96T58	MINT_HUMAN	F	1222	ENSP00000364912:S1222F	ENSP00000364912:S1222F	S	+	2	0	SPEN	16128987	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	5.411000	0.66386	2.448000	0.82819	0.557000	0.71058	TCT	SPEN	-	NULL	ENSG00000065526		0.433	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	212	0.00	0	C	NM_015001		16256400	16256400	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	164	14.58	28	SNP	1.000	T
SPEN	23013	genome.wustl.edu	37	1	16259295	16259295	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:16259295C>T	ENST00000375759.3	+	11	6764	c.6560C>T	c.(6559-6561)tCt>tTt	p.S2187F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2187	Interaction with MSX2. {ECO:0000250}.				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)		GCCTCTGCCTCTGCTGCCTAT	0.622																																						dbGAP											0													53.0	53.0	53.0					1																	16259295		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.6560C>T	1.37:g.16259295C>T	ENSP00000364912:p.Ser2187Phe		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.S2187F	ENST00000375759.3	37	c.6560	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	c	0.139	-1.103908	0.01828	.	.	ENSG00000065526	ENST00000375759	T	0.09445	2.98	5.15	0.265	0.15612	.	.	.	.	.	T	0.05181	0.0138	N	0.14661	0.345	0.09310	N	1	B	0.17465	0.022	B	0.19946	0.027	T	0.40942	-0.9536	9	0.46703	T	0.11	4.6851	0.4264	0.00464	0.4089:0.1931:0.2055:0.1925	.	2187	Q96T58	MINT_HUMAN	F	2187	ENSP00000364912:S2187F	ENSP00000364912:S2187F	S	+	2	0	SPEN	16131882	0.001000	0.12720	0.000000	0.03702	0.038000	0.13279	1.428000	0.34892	0.155000	0.19261	-0.535000	0.04281	TCT	SPEN	-	NULL	ENSG00000065526		0.622	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	151	0.00	0	C	NM_015001		16259295	16259295	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	189	16.74	38	SNP	0.000	T
SPP2	6694	genome.wustl.edu	37	2	234959515	234959515	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:234959515G>A	ENST00000168148.3	+	1	173	c.85G>A	c.(85-87)Ggt>Agt	p.G29S	SPP2_ENST00000373368.1_Splice_Site_p.G29S|SPP2_ENST00000492481.1_3'UTR	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	29					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GTCTTGCTCAGGTAAGGTATT	0.478																																						dbGAP											0													251.0	227.0	235.0					2																	234959515		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.85+1G>A	2.37:g.234959515G>A			A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	pfam_Spp-24,pfam_Prot_inh_cystat	p.G29S	ENST00000168148.3	37	c.85	CCDS2511.1	2	.	.	.	.	.	.	.	.	.	.	G	24.7	4.562136	0.86335	.	.	ENSG00000072080	ENST00000373368;ENST00000168148	T;T	0.61510	0.1;0.1	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.74635	0.3742	M	0.69823	2.125	0.51012	D	0.999909	D	0.89917	1.0	D	0.91635	0.999	T	0.77310	-0.2635	10	0.87932	D	0	-19.683	14.6509	0.68797	0.0:0.0:1.0:0.0	.	29	Q13103	SPP24_HUMAN	S	29	ENSP00000362466:G29S;ENSP00000168148:G29S	ENSP00000168148:G29S	G	+	1	0	SPP2	234624254	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	4.652000	0.61454	2.528000	0.85240	0.650000	0.86243	GGT	SPP2	-	NULL	ENSG00000072080		0.478	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP2	HGNC	protein_coding	OTTHUMT00000131313.3	265	0.00	0	G	NM_006944	Missense_Mutation	234959515	234959515	+1	no_errors	ENST00000168148	ensembl	human	known	69_37n	missense	149	10.78	18	SNP	1.000	A
SPTAN1	6709	genome.wustl.edu	37	9	131360679	131360679	+	Splice_Site	SNP	G	G	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:131360679G>C	ENST00000372731.4	+	25	3525	c.3415G>C	c.(3415-3417)Gac>Cac	p.D1139H	SPTAN1_ENST00000475367.1_3'UTR|SPTAN1_ENST00000358161.5_Splice_Site_p.D1139H|SPTAN1_ENST00000372739.3_Splice_Site_p.D1139H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1139					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGCTTTAAAGGACCTGAAGGC	0.433																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											0													78.0	64.0	68.0					9																	131360679		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3415-1G>C	9.37:g.131360679G>C			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain	p.D1139H	ENST00000372731.4	37	c.3415	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.115849	0.94339	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.39406	1.08;1.08;1.08	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	M	0.88241	2.94	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	0.998;0.998;0.994;0.997;0.998	T	0.74393	-0.3680	9	.	.	.	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1139;1119;1119;1139;1139	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	H	1139;1139;1139;1119	ENSP00000350882:D1139H;ENSP00000361816:D1139H;ENSP00000361824:D1139H	.	D	+	1	0	SPTAN1	130400500	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.448000	0.97600	2.894000	0.99253	0.591000	0.81541	GAC	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.433	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	35	0.00	0	G	NM_003127	Missense_Mutation	131360679	131360679	+1	no_errors	ENST00000358161	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	1.000	C
SPTBN4	57731	genome.wustl.edu	37	19	41063118	41063118	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:41063118G>A	ENST00000352632.3	+	26	5565	c.5479G>A	c.(5479-5481)Gcc>Acc	p.A1827T	SPTBN4_ENST00000392023.1_Missense_Mutation_p.A503T|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1827T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1827T|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1827T|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A570T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1827					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGCACACGGGCCCAGCTGCT	0.647																																						dbGAP											0													25.0	28.0	27.0					19																	41063118		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5479G>A	19.37:g.41063118G>A	ENSP00000263373:p.Ala1827Thr		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,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.A1827T	ENST00000352632.3	37	c.5479	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	5.398	0.258611	0.10239	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	3.63	3.63	0.41609	.	0.090141	0.42172	D	0.000757	T	0.35537	0.0935	N	0.10916	0.065	0.33152	D	0.545849	B;B;D;B	0.58970	0.276;0.034;0.984;0.418	B;B;P;B	0.56127	0.159;0.028;0.792;0.145	T	0.24905	-1.0147	10	0.08599	T	0.76	.	10.0682	0.42317	0.0:0.0:0.7987:0.2013	.	570;503;1827;1827	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	T	1827;1827;1827;570;503	ENSP00000263373:A1827T;ENSP00000340345:A1827T;ENSP00000375879:A570T;ENSP00000375877:A503T	ENSP00000340345:A1827T	A	+	1	0	SPTBN4	45754958	0.004000	0.15560	0.992000	0.48379	0.986000	0.74619	1.185000	0.32065	2.036000	0.60181	0.455000	0.32223	GCC	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.647	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	30	0.00	0	G			41063118	41063118	+1	no_errors	ENST00000352632	ensembl	human	known	69_37n	missense	47	59.32	70	SNP	1.000	A
SPTLC3	55304	genome.wustl.edu	37	20	13029833	13029833	+	Intron	SNP	T	T	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:13029833T>G	ENST00000399002.2	+	2	577				SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3						small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						CTCTAAAGTGTTCTCAGAAGT	0.448																																						dbGAP											0													152.0	129.0	136.0					20																	13029833		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.303+55T>G	20.37:g.13029833T>G			A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	RNA	SNP	-	NULL	ENST00000399002.2	37	NULL	CCDS13115.2	20																																																																																			SPTLC3	-	-	ENSG00000172296		0.448	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	93	0.00	0	T	NM_018327		13029833	13029833	+1	no_errors	ENST00000476791	ensembl	human	known	69_37n	rna	99	11.61	13	SNP	0.003	G
SREBF2	6721	genome.wustl.edu	37	22	42273258	42273258	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:42273258C>T	ENST00000361204.4	+	8	1578	c.1412C>T	c.(1411-1413)cCt>cTt	p.P471L		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	471	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						GACTCTCCTCCTGTGGCGCTG	0.478																																						dbGAP											0													116.0	112.0	114.0					22																	42273258		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.1412C>T	22.37:g.42273258C>T	ENSP00000354476:p.Pro471Leu		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.P471L	ENST00000361204.4	37	c.1412	CCDS14023.1	22	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040767	0.75732	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.55413	0.52	6.06	6.06	0.98353	.	0.167921	0.56097	D	0.000039	T	0.49695	0.1572	L	0.53249	1.67	0.80722	D	1	P	0.40431	0.717	B	0.32864	0.154	T	0.51537	-0.8693	10	0.45353	T	0.12	-20.2816	20.6227	0.99507	0.0:1.0:0.0:0.0	.	471	Q12772	SRBP2_HUMAN	L	471	ENSP00000354476:P471L	ENSP00000354476:P471L	P	+	2	0	SREBF2	40603204	0.996000	0.38824	0.891000	0.34965	0.953000	0.61014	6.359000	0.73060	2.885000	0.99019	0.643000	0.83706	CCT	SREBF2	-	NULL	ENSG00000198911		0.478	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1	116	0.00	0	C	NM_004599		42273258	42273258	+1	no_errors	ENST00000361204	ensembl	human	known	69_37n	missense	108	10.00	12	SNP	0.788	T
SSH1	54434	genome.wustl.edu	37	12	109186593	109186593	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:109186593G>A	ENST00000326495.5	-	14	1455	c.1362C>T	c.(1360-1362)caC>caT	p.H454H	SSH1_ENST00000326470.5_Silent_p.H465H|SSH1_ENST00000551165.1_Silent_p.H454H|SSH1_ENST00000360239.3_Silent_p.H142H	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	454					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAGCTTGTTGTGCCGCTGTT	0.637																																						dbGAP											0													30.0	32.0	31.0					12																	109186593		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.1362C>T	12.37:g.109186593G>A			Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Silent	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.H454	ENST00000326495.5	37	c.1362	CCDS9121.1	12																																																																																			SSH1	-	NULL	ENSG00000084112		0.637	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	53	0.00	0	G	NM_018984		109186593	109186593	-1	no_errors	ENST00000326495	ensembl	human	known	69_37n	silent	50	21.88	14	SNP	1.000	A
STAB2	55576	genome.wustl.edu	37	12	104031898	104031898	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:104031898G>A	ENST00000388887.2	+	8	1018	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		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						CCGTGGGGATGGCCAAGTGTG	0.498																																						dbGAP											0													166.0	142.0	150.0					12																	104031898		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.814G>A	12.37:g.104031898G>A	ENSP00000373539:p.Gly272Ser			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.G272S	ENST00000388887.2	37	c.814	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	22.3	4.266411	0.80358	.	.	ENSG00000136011	ENST00000388887	D	0.99909	-7.85	5.34	5.34	0.76211	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99933	0.9970	H	0.96489	3.83	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	D	0.96332	0.9244	10	0.54805	T	0.06	.	18.6371	0.91383	0.0:0.0:1.0:0.0	.	272	Q8WWQ8	STAB2_HUMAN	S	272	ENSP00000373539:G272S	ENSP00000373539:G272S	G	+	1	0	STAB2	102556028	1.000000	0.71417	0.999000	0.59377	0.424000	0.31475	7.907000	0.87430	2.498000	0.84270	0.561000	0.74099	GGC	STAB2	-	smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000136011		0.498	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	148	0.00	0	G			104031898	104031898	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	missense	106	21.48	29	SNP	1.000	A
SSH1	54434	genome.wustl.edu	37	12	109200108	109200108	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:109200108C>T	ENST00000326495.5	-	9	887	c.794G>A	c.(793-795)aGc>aAc	p.S265N	SSH1_ENST00000326470.5_Missense_Mutation_p.S276N|SSH1_ENST00000551165.1_Missense_Mutation_p.S265N|SSH1_ENST00000360239.3_5'UTR	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	265					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAGATCCTGGCTCATCATGAT	0.512																																						dbGAP											0													278.0	236.0	250.0					12																	109200108		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.794G>A	12.37:g.109200108C>T	ENSP00000315713:p.Ser265Asn		Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S265N	ENST00000326495.5	37	c.794	CCDS9121.1	12	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342624	0.61073	.	.	ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470	T;T;T	0.38560	1.13;1.13;1.13	5.84	5.84	0.93424	DEK, C-terminal (1);	0.123131	0.85682	D	0.000000	T	0.45975	0.1369	L	0.27053	0.805	0.80722	D	1	D;P;P	0.54047	0.964;0.93;0.888	P;P;P	0.55391	0.775;0.572;0.588	T	0.40534	-0.9558	10	0.62326	D	0.03	-34.4837	14.7003	0.69152	0.0:0.8554:0.1446:0.0	.	276;265;265	Q8WYL5-5;Q8WYL5-2;Q8WYL5	.;.;SSH1_HUMAN	N	265;265;276	ENSP00000315713:S265N;ENSP00000448824:S265N;ENSP00000326107:S276N	ENSP00000326107:S276N	S	-	2	0	SSH1	107724237	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.133000	0.31430	2.768000	0.95171	0.643000	0.83706	AGC	SSH1	-	pfam_DEK_C	ENSG00000084112		0.512	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	135	0.00	0	C	NM_018984		109200108	109200108	-1	no_errors	ENST00000326495	ensembl	human	known	69_37n	missense	104	11.86	14	SNP	1.000	T
STK36	27148	genome.wustl.edu	37	2	219557367	219557367	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:219557367C>T	ENST00000295709.3	+	16	2256	c.1977C>T	c.(1975-1977)tcC>tcT	p.S659S	STK36_ENST00000392106.2_Silent_p.S659S|STK36_ENST00000392105.3_Silent_p.S659S|STK36_ENST00000440309.1_Silent_p.S659S	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GAGCCATTTCCTCTGCCCTGG	0.567																																						dbGAP											0													58.0	56.0	57.0					2																	219557367		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.1977C>T	2.37:g.219557367C>T				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S659	ENST00000295709.3	37	c.1977	CCDS2421.1	2																																																																																			STK36	-	superfamily_ARM-type_fold	ENSG00000163482		0.567	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK36	HGNC	protein_coding	OTTHUMT00000256723.2	38	0.00	0	C			219557367	219557367	+1	no_errors	ENST00000295709	ensembl	human	known	69_37n	silent	39	35.00	21	SNP	0.017	T
STOML1	9399	genome.wustl.edu	37	15	74276416	74276416	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:74276416C>T	ENST00000316900.5	-	7	1183	c.1059G>A	c.(1057-1059)gaG>gaA	p.E353E	STOML1_ENST00000564777.1_Silent_p.E302E|STOML1_ENST00000561656.1_Silent_p.E265E|STOML1_ENST00000359750.4_Silent_p.E282E|STOML1_ENST00000541638.1_Silent_p.E310E|STOML1_ENST00000316911.6_Silent_p.E303E	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	353	SCP2.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CCTCGGCCATCTCCACCACCA	0.622																																						dbGAP											0													40.0	39.0	39.0					15																	74276416		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.1059G>A	15.37:g.74276416C>T			B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Silent	SNP	pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin	p.E353	ENST00000316900.5	37	c.1059	CCDS10254.1	15																																																																																			STOML1	-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	ENSG00000067221		0.622	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML1	HGNC	protein_coding	OTTHUMT00000269022.1	22	0.00	0	C	NM_004809		74276416	74276416	-1	no_errors	ENST00000316900	ensembl	human	known	69_37n	silent	13	74.55	41	SNP	0.960	T
STOML1	9399	genome.wustl.edu	37	15	74277124	74277124	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:74277124C>T	ENST00000316900.5	-	6	1003	c.879G>A	c.(877-879)ggG>ggA	p.G293G	STOML1_ENST00000564777.1_Silent_p.G242G|STOML1_ENST00000561656.1_Silent_p.G205G|STOML1_ENST00000359750.4_Intron|STOML1_ENST00000541638.1_Silent_p.G250G|STOML1_ENST00000316911.6_Silent_p.G243G	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	293	SCP2.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CAGTCAGTAGCCCCTCCGCCA	0.637																																						dbGAP											0													60.0	50.0	54.0					15																	74277124		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.879G>A	15.37:g.74277124C>T			B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Silent	SNP	pfam_Band_7,pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom,smart_Band_7,prints_Stomatin	p.G293	ENST00000316900.5	37	c.879	CCDS10254.1	15																																																																																			STOML1	-	superfamily_SCP2_sterol-bd_dom	ENSG00000067221		0.637	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOML1	HGNC	protein_coding	OTTHUMT00000269022.1	19	0.00	0	C	NM_004809		74277124	74277124	-1	no_errors	ENST00000316900	ensembl	human	known	69_37n	silent	22	76.34	71	SNP	1.000	T
STRBP	55342	genome.wustl.edu	37	9	125920691	125920691	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:125920691C>T	ENST00000348403.5	-	10	1282	c.853G>A	c.(853-855)Gat>Aat	p.D285N	STRBP_ENST00000360998.3_Missense_Mutation_p.D271N|STRBP_ENST00000447404.2_Missense_Mutation_p.D285N	NM_018387.4	NP_060857.2	Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein	285	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TCACAAGGATCATGAAGACCA	0.433																																						dbGAP											0													123.0	112.0	116.0					9																	125920691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000348403.5:c.853G>A	9.37:g.125920691C>T	ENSP00000321347:p.Asp285Asn		Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	Missense_Mutation	SNP	pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd	p.D285N	ENST00000348403.5	37	c.853	CCDS6851.1	9	.	.	.	.	.	.	.	.	.	.	C	32	5.132663	0.94517	.	.	ENSG00000165209	ENST00000447404;ENST00000348403;ENST00000360998	T;T;T	0.64085	-0.08;-0.08;-0.08	5.36	5.36	0.76844	DZF (2);	0.049844	0.85682	D	0.000000	D	0.84584	0.5504	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88363	0.2989	10	0.87932	D	0	-14.6747	18.7109	0.91656	0.0:1.0:0.0:0.0	.	285	Q96SI9	STRBP_HUMAN	N	285;285;271	ENSP00000415968:D285N;ENSP00000321347:D285N;ENSP00000354271:D271N	ENSP00000321347:D285N	D	-	1	0	STRBP	124960512	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.492000	0.84095	0.557000	0.71058	GAT	STRBP	-	pfam_DZF,smart_DZF	ENSG00000165209		0.433	STRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRBP	HGNC	protein_coding	OTTHUMT00000053982.1	303	0.00	0	C			125920691	125920691	-1	no_errors	ENST00000348403	ensembl	human	known	69_37n	missense	204	16.05	39	SNP	1.000	T
SURF1	6834	genome.wustl.edu	37	9	136220650	136220650	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:136220650G>A	ENST00000371974.3	-	5	500	c.469C>T	c.(469-471)Cag>Tag	p.Q157*	SNORD36C_ENST00000516733.1_RNA|SURF2_ENST00000371964.4_5'Flank|SURF1_ENST00000495952.1_5'UTR	NM_001280787.1|NM_003172.2	NP_001267716.1|NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	157					aerobic respiration (GO:0009060)|ATP biosynthetic process (GO:0006754)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory chain complex IV assembly (GO:0008535)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		GCCCCACTCTGAGTTGAGGAG	0.617																																						dbGAP											0													119.0	128.0	125.0					9																	136220650		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS6966.1, CCDS75928.1	9q33-q34	2012-10-12			ENSG00000148290	ENSG00000148290		"""Mitochondrial respiratory chain complex assembly factors"""	11474	protein-coding gene	gene with protein product	"""surfeit locus protein 1"""	185620				8499913, 9843204	Standard	NM_003172		Approved		uc004cdh.1	Q15526	OTTHUMG00000020866	ENST00000371974.3:c.469C>T	9.37:g.136220650G>A	ENSP00000361042:p.Gln157*		Q5T8T3|Q5T8T4	Nonsense_Mutation	SNP	pfam_Surf1,pfscan_Surf1	p.Q157*	ENST00000371974.3	37	c.469	CCDS6966.1	9	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306876	0.81247	.	.	ENSG00000148290	ENST00000371974;ENST00000437995	.	.	.	4.64	2.75	0.32379	.	0.113618	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-17.6977	12.5191	0.56048	0.0:0.6312:0.3688:0.0	.	.	.	.	X	157;139	.	ENSP00000361042:Q157X	Q	-	1	0	SURF1	135210471	0.976000	0.34144	0.188000	0.23233	0.644000	0.38419	2.427000	0.44740	0.376000	0.24707	-0.270000	0.10280	CAG	SURF1	-	pfam_Surf1,pfscan_Surf1	ENSG00000148290		0.617	SURF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SURF1	HGNC	protein_coding	OTTHUMT00000054879.1	50	0.00	0	G	NM_003172		136220650	136220650	-1	no_errors	ENST00000371974	ensembl	human	known	69_37n	nonsense	108	39.33	70	SNP	0.971	A
SUV39H1	6839	genome.wustl.edu	37	X	48565946	48565946	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:48565946C>T	ENST00000376687.3	+	6	1414	c.1224C>T	c.(1222-1224)cgC>cgT	p.R408R	SUV39H1_ENST00000337852.6_Silent_p.R419R|AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000482260.1_3'UTR|SUV39H1_ENST00000453214.2_3'UTR	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	408	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|chromatin silencing at rDNA (GO:0000183)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin silencing complex (GO:0005677)|chromosome, centromeric region (GO:0000775)|condensed nuclear chromosome (GO:0000794)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|rDNA heterochromatin (GO:0033553)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|protein N-terminus binding (GO:0047485)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AGTCCTGCCGCAAATACCTCT	0.587																																						dbGAP											0													99.0	80.0	86.0					X																	48565946		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF019968	CCDS14304.1, CCDS65252.1	Xp11.23	2011-07-01	2001-11-28		ENSG00000101945	ENSG00000101945		"""Chromatin-modifying enzymes / K-methyltransferases"""	11479	protein-coding gene	gene with protein product		300254	"""suppressor of variegation 3-9 (Drosophila) homolog 1"""	SUV39H		10202156	Standard	NM_001282166		Approved	KMT1A	uc004dkn.3	O43463	OTTHUMG00000022701	ENST00000376687.3:c.1224C>T	X.37:g.48565946C>T			B2R6E8|B4DST0|Q53G60|Q6FHK6	Silent	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow	p.R419	ENST00000376687.3	37	c.1257	CCDS14304.1	X	.	.	.	.	.	.	.	.	.	.	C	9.075	0.997766	0.19043	.	.	ENSG00000101945	ENST00000448548	.	.	.	4.29	2.11	0.27256	.	.	.	.	.	T	0.47525	0.1450	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46176	-0.9210	5	0.48119	T	0.1	.	1.3649	0.02199	0.2629:0.4062:0.2016:0.1293	.	.	.	.	V	403	.	ENSP00000410043:A403V	A	+	2	0	SUV39H1	48450890	0.998000	0.40836	1.000000	0.80357	0.921000	0.55340	0.402000	0.20965	0.667000	0.31107	0.287000	0.19450	GCA	SUV39H1	-	smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_Post-SET_dom	ENSG00000101945		0.587	SUV39H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV39H1	HGNC	protein_coding	OTTHUMT00000058909.1	184	0.00	0	C	NM_003173		48565946	48565946	+1	no_errors	ENST00000337852	ensembl	human	known	69_37n	silent	61	14.08	10	SNP	1.000	T
SYCP1	6847	genome.wustl.edu	37	1	115398095	115398095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:115398095C>T	ENST00000369522.3	+	2	250	c.10C>T	c.(10-12)Caa>Taa	p.Q4*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.Q4*	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	4					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGGAAAAGCAAAAGCCCTT	0.493																																						dbGAP											0													85.0	83.0	84.0					1																	115398095		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.10C>T	1.37:g.115398095C>T	ENSP00000358535:p.Gln4*		O14963|Q5VXJ6	Nonsense_Mutation	SNP	pfam_SCP-1	p.Q4*	ENST00000369522.3	37	c.10	CCDS879.1	1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565139	0.86439	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	.	.	.	4.96	4.03	0.46877	.	0.339289	0.27143	N	0.020737	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-10.6752	11.748	0.51832	0.0:0.5588:0.4412:0.0	.	.	.	.	X	4	.	ENSP00000358531:Q4X	Q	+	1	0	SYCP1	115199618	1.000000	0.71417	0.713000	0.30519	0.197000	0.23852	3.298000	0.51818	2.293000	0.77203	0.561000	0.74099	CAA	SYCP1	-	NULL	ENSG00000198765		0.493	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP1	HGNC	protein_coding	OTTHUMT00000033386.1	73	0.00	0	C	NM_003176		115398095	115398095	+1	no_errors	ENST00000369518	ensembl	human	known	69_37n	nonsense	62	20.00	16	SNP	0.998	T
SYNJ2	8871	genome.wustl.edu	37	6	158505058	158505058	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:158505058C>T	ENST00000355585.4	+	22	3135	c.3060C>T	c.(3058-3060)gaC>gaT	p.D1020D	SYNJ2_ENST00000367112.1_Silent_p.D105D|SYNJ2_ENST00000367122.2_Silent_p.D1020D|SYNJ2_ENST00000367121.3_Silent_p.D1020D	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1020					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)		ACGATGAAGACTACTTGGTGG	0.527																																						dbGAP											0													235.0	253.0	247.0					6																	158505058		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.3060C>T	6.37:g.158505058C>T			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.D1020	ENST00000355585.4	37	c.3060	CCDS5254.1	6																																																																																			SYNJ2	-	NULL	ENSG00000078269		0.527	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	340	0.00	0	C			158505058	158505058	+1	no_errors	ENST00000355585	ensembl	human	known	69_37n	silent	283	15.73	53	SNP	0.967	T
SYNM	23336	genome.wustl.edu	37	15	99670382	99670382	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:99670382G>A	ENST00000560674.1	+	4	1428	c.959G>A	c.(958-960)gGg>gAg	p.G320E	SYNM_ENST00000336292.6_Missense_Mutation_p.G605E|SYNM_ENST00000328642.7_Missense_Mutation_p.G605E|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	606	Interaction with DMD and UTRN.|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						GCTGGTGGTGGGACCGGTAGA	0.552																																					Pancreas(125;1071 1762 21750 40003 40381)	dbGAP											0													59.0	60.0	60.0					15																	99670382		2020	4183	6203	-	-	-	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		ENST00000560674.1:c.959G>A	15.37:g.99670382G>A	ENSP00000453040:p.Gly320Glu		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	pfam_F	p.G605E	ENST00000560674.1	37	c.1814		15	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821178	0.16678	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.29917	1.55;1.55	5.74	3.84	0.44239	.	.	.	.	.	T	0.33265	0.0857	.	.	.	0.09310	N	1	D;P	0.59767	0.986;0.799	P;B	0.47206	0.541;0.162	T	0.12889	-1.0530	8	0.66056	D	0.02	.	9.3079	0.37887	0.078:0.2781:0.644:0.0	.	606;605	O15061;C9JIE4	SYNEM_HUMAN;.	E	605	ENSP00000336775:G605E;ENSP00000330469:G605E	ENSP00000330469:G605E	G	+	2	0	SYNM	97487905	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	0.613000	0.24299	0.759000	0.33084	-0.300000	0.09419	GGG	SYNM	-	NULL	ENSG00000182253		0.552	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	56	0.00	0	G	NM_145728		99670382	99670382	+1	no_errors	ENST00000336292	ensembl	human	known	69_37n	missense	53	17.19	11	SNP	0.006	A
SZT2	23334	genome.wustl.edu	37	1	43892771	43892771	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:43892771G>A	ENST00000562955.1	+	23	3183	c.3183G>A	c.(3181-3183)caG>caA	p.Q1061Q	SZT2_ENST00000372442.1_Silent_p.Q219Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1118					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCTCTGCCCAGCCCCCTCAGT	0.507																																						dbGAP											0													112.0	118.0	116.0					1																	43892771		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.3183G>A	1.37:g.43892771G>A			A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	NULL	p.Q1061	ENST00000562955.1	37	c.3183	CCDS30694.2	1																																																																																			SZT2	-	NULL	ENSG00000198198		0.507	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	227	0.00	0	G	NM_015284		43892771	43892771	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	silent	115	12.21	16	SNP	1.000	A
TAAR2	9287	genome.wustl.edu	37	6	132938601	132938601	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:132938601T>A	ENST00000367931.1	-	2	743	c.744A>T	c.(742-744)gaA>gaT	p.E248D	TAAR2_ENST00000275191.2_Missense_Mutation_p.E203D|TAAR2_ENST00000537809.1_Missense_Mutation_p.E203D			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	248					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		TATTTTGATTTTCTCGCAAGT	0.363																																						dbGAP											0													54.0	48.0	50.0					6																	132938601		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.744A>T	6.37:g.132938601T>A	ENSP00000356908:p.Glu248Asp		Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt	p.E248D	ENST00000367931.1	37	c.744	CCDS34541.1	6	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488758	0.44249	.	.	ENSG00000146378	ENST00000275191;ENST00000367931;ENST00000537809	T;T;T	0.72725	-0.68;-0.68;-0.68	6.0	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.216140	0.40144	N	0.001162	T	0.60248	0.2254	L	0.48877	1.53	0.26957	N	0.965908	D	0.63880	0.993	P	0.60473	0.875	T	0.55231	-0.8173	10	0.44086	T	0.13	-19.2417	6.3789	0.21523	0.0:0.1351:0.1326:0.7324	.	248	Q9P1P5	TAAR2_HUMAN	D	203;248;203	ENSP00000275191:E203D;ENSP00000356908:E248D;ENSP00000441263:E203D	ENSP00000275191:E203D	E	-	3	2	TAAR2	132980294	0.867000	0.29959	1.000000	0.80357	0.537000	0.34900	1.127000	0.31357	0.517000	0.28361	0.528000	0.53228	GAA	TAAR2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000146378		0.363	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	HGNC	protein_coding	OTTHUMT00000390735.1	297	0.00	0	T	NM_014626		132938601	132938601	-1	no_errors	ENST00000367931	ensembl	human	known	69_37n	missense	183	13.27	28	SNP	1.000	A
TACC1	6867	genome.wustl.edu	37	8	38677846	38677846	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:38677846G>A	ENST00000317827.4	+	3	1463	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	TACC1_ENST00000520611.1_5'Flank|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.A167T|TACC1_ENST00000518415.1_Missense_Mutation_p.A317T|TACC1_ENST00000519416.1_Missense_Mutation_p.A167T|TACC1_ENST00000520973.1_Missense_Mutation_p.A167T|TACC1_ENST00000379931.3_Missense_Mutation_p.A362T|TACC1_ENST00000520340.1_Missense_Mutation_p.A326T|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.A378T|TACC1_ENST00000348567.4_Intron	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	362	Interaction with YEATS4.|SPAZ 2.				cell cycle (GO:0007049)|cell division (GO:0051301)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAGTAAGTCAGCAGGTTTAGA	0.517																																						dbGAP											0													131.0	135.0	133.0					8																	38677846		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF049910	CCDS6109.1, CCDS47845.1, CCDS55224.1	8p11	2012-12-20			ENSG00000147526	ENSG00000147526			11522	protein-coding gene	gene with protein product		605301					Standard	NM_006283		Approved		uc010lwp.3	O75410	OTTHUMG00000164018	ENST00000317827.4:c.1084G>A	8.37:g.38677846G>A	ENSP00000321703:p.Ala362Thr		B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Missense_Mutation	SNP	pfam_TACC	p.A362T	ENST00000317827.4	37	c.1084	CCDS6109.1	8	.	.	.	.	.	.	.	.	.	.	G	8.538	0.872506	0.17322	.	.	ENSG00000147526	ENST00000519416;ENST00000520615;ENST00000443388;ENST00000443286;ENST00000518415;ENST00000522904;ENST00000317827;ENST00000379931;ENST00000520973	T;T;T;T;T;T;T;T	0.10005	2.94;2.94;3.11;3.11;2.92;3.11;3.11;2.95	4.58	2.55	0.30701	.	0.621363	0.13767	N	0.364136	T	0.07234	0.0183	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B	0.26845	0.161;0.022;0.01;0.004;0.118;0.094;0.001;0.012	B;B;B;B;B;B;B;B	0.25759	0.063;0.006;0.006;0.007;0.05;0.016;0.001;0.008	T	0.36696	-0.9737	10	0.12766	T	0.61	-0.6974	11.7186	0.51668	0.0:0.3425:0.6575:0.0	.	167;167;167;378;362;362;167;317	B7Z3G3;E7EVI4;B4DH49;B4E302;O75410-2;O75410;E7ET87;O75410-7	.;.;.;.;.;TACC1_HUMAN;.;.	T	167;167;167;378;317;334;362;362;167	ENSP00000428687:A167T;ENSP00000428450:A167T;ENSP00000393647:A378T;ENSP00000428706:A317T;ENSP00000430355:A334T;ENSP00000321703:A362T;ENSP00000369263:A362T;ENSP00000430959:A167T	ENSP00000321703:A362T	A	+	1	0	TACC1	38797003	0.003000	0.15002	0.019000	0.16419	0.909000	0.53808	1.299000	0.33424	0.984000	0.38629	0.563000	0.77884	GCA	TACC1	-	NULL	ENSG00000147526		0.517	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1	239	0.00	0	G	NM_006283		38677846	38677846	+1	no_errors	ENST00000379931	ensembl	human	known	69_37n	missense	186	46.86	164	SNP	0.005	A
TACC2	10579	genome.wustl.edu	37	10	123846638	123846638	+	Silent	SNP	G	G	A	rs139774351	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:123846638G>A	ENST00000369005.1	+	4	4963	c.4623G>A	c.(4621-4623)ctG>ctA	p.L1541L	TACC2_ENST00000515603.1_Silent_p.L1541L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000334433.3_Silent_p.L1541L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.L1541L|TACC2_ENST00000453444.2_Silent_p.L1541L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1541					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)				GGCCAGGCCTGGAAGGCCAGG	0.627																																						dbGAP											0													27.0	28.0	28.0					10																	123846638		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.4623G>A	10.37:g.123846638G>A			Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	pfam_TACC	p.L1541	ENST00000369005.1	37	c.4623	CCDS7626.1	10																																																																																			TACC2	-	NULL	ENSG00000138162		0.627	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	27	0.00	0	G			123846638	123846638	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	silent	18	18.18	4	SNP	0.000	A
TAF2	6873	genome.wustl.edu	37	8	120805649	120805649	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:120805649C>T	ENST00000378164.2	-	10	1532	c.1234G>A	c.(1234-1236)Gtt>Att	p.V412I		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	412					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTAGTAAAACCCCACCAGTT	0.279																																						dbGAP											0													77.0	81.0	80.0					8																	120805649		2203	4285	6488	-	-	-	SO:0001583	missense	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1234G>A	8.37:g.120805649C>T	ENSP00000367406:p.Val412Ile		B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,superfamily_ARM-type_fold	p.V412I	ENST00000378164.2	37	c.1234	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	C	8.640	0.895640	0.17686	.	.	ENSG00000064313	ENST00000378164	T	0.41758	0.99	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	N	0.10874	0.06	0.58432	D	0.999999	B	0.23377	0.084	B	0.19666	0.026	T	0.15435	-1.0437	10	0.02654	T	1	-19.0158	19.7498	0.96263	0.0:1.0:0.0:0.0	.	412	Q6P1X5	TAF2_HUMAN	I	412	ENSP00000367406:V412I	ENSP00000367406:V412I	V	-	1	0	TAF2	120874830	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.781000	0.68964	2.674000	0.91012	0.591000	0.81541	GTT	TAF2	-	NULL	ENSG00000064313		0.279	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	143	0.00	0	C	NM_003184		120805649	120805649	-1	no_errors	ENST00000378164	ensembl	human	known	69_37n	missense	95	18.80	22	SNP	1.000	T
TAF2	6873	genome.wustl.edu	37	8	120810087	120810087	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:120810087C>T	ENST00000378164.2	-	7	1091		c.e7-1			NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa						G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGAGTAACCTGAAAAGAAG	0.303																																						dbGAP											0													62.0	62.0	62.0					8																	120810087		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.793-1G>A	8.37:g.120810087C>T			B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Splice_Site	SNP	-	e7-1	ENST00000378164.2	37	c.793-1	CCDS34937.1	8	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189741	0.78789	.	.	ENSG00000064313	ENST00000378164	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TAF2	120879268	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.776000	0.85560	2.798000	0.96311	0.655000	0.94253	.	TAF2	-	-	ENSG00000064313		0.303	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF2	HGNC	protein_coding	OTTHUMT00000381436.1	127	0.00	0	C	NM_003184	Intron	120810087	120810087	-1	no_errors	ENST00000378164	ensembl	human	known	69_37n	splice_site	125	19.35	30	SNP	1.000	T
TAF4B	6875	genome.wustl.edu	37	18	23854787	23854787	+	Splice_Site	SNP	C	C	T	rs202073070		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr18:23854787C>T	ENST00000269142.5	+	4	1756	c.758C>T	c.(757-759)cCg>cTg	p.P253L	TAF4B_ENST00000578121.1_Splice_Site_p.P253L|TAF4B_ENST00000400466.2_Splice_Site_p.P253L	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	253					gene expression (GO:0010467)|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)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P253L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			AATCTTTCTCCGGTAAGCTCT	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18088	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	large_intestine(1)											163.0	151.0	155.0					18																	23854787		1868	4105	5973	-	-	-	SO:0001630	splice_region_variant	0			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.759+1C>T	18.37:g.23854787C>T			Q29YA4|Q29YA5	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.P253L	ENST00000269142.5	37	c.758	CCDS42421.1	18	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.870	1.198661	0.22121	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.40225	1.04;1.04;1.04	5.66	4.6	0.57074	.	0.541958	0.20720	N	0.086926	T	0.30947	0.0781	L	0.36672	1.1	0.43390	D	0.995506	B;B	0.30709	0.023;0.291	B;B	0.18871	0.008;0.023	T	0.07673	-1.0760	10	0.32370	T	0.25	-10.3177	13.7632	0.62979	0.0:0.9162:0.0:0.0838	.	253;253	Q92750;A4PBF7	TAF4B_HUMAN;.	L	253	ENSP00000389365:P253L;ENSP00000269142:P253L;ENSP00000383314:P253L	ENSP00000269142:P253L	P	+	2	0	TAF4B	22108785	1.000000	0.71417	0.999000	0.59377	0.338000	0.28826	2.976000	0.49289	2.680000	0.91292	0.655000	0.94253	CCG	TAF4B	-	NULL	ENSG00000141384		0.388	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3	336	0.00	0	C	NM_005640	Missense_Mutation	23854787	23854787	+1	no_errors	ENST00000269142	ensembl	human	known	69_37n	missense	314	22.47	91	SNP	0.995	T
TARS2	80222	genome.wustl.edu	37	1	150463906	150463906	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:150463906G>A	ENST00000369064.3	+	5	583	c.549G>A	c.(547-549)cgG>cgA	p.R183R	TARS2_ENST00000606933.1_Silent_p.R183R|TARS2_ENST00000369054.2_Silent_p.R183R|TARS2_ENST00000438568.2_Missense_Mutation_p.D142N	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	183					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	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;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTTTGGAGCGGATTTGCCAGG	0.562																																						dbGAP											0													103.0	97.0	99.0					1																	150463906		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.549G>A	1.37:g.150463906G>A			Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_TGS,superfamily_TGS-like	p.D142N	ENST00000369064.3	37	c.424	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184653	0.38609	.	.	ENSG00000143374	ENST00000438568	.	.	.	5.22	-2.65	0.06095	.	.	.	.	.	T	0.12518	0.0304	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37174	-0.9717	5	0.87932	D	0	-2.3368	1.6203	0.02712	0.3972:0.1318:0.336:0.1351	.	.	.	.	N	142	.	ENSP00000415002:D142N	D	+	1	0	TARS2	148730530	0.000000	0.05858	0.000000	0.03702	0.637000	0.38172	-0.788000	0.04614	-0.593000	0.05844	0.563000	0.77884	GAT	TARS2	-	NULL	ENSG00000143374		0.562	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	68	0.00	0	G	NM_025150		150463906	150463906	+1	no_errors	ENST00000438568	ensembl	human	known	69_37n	missense	85	24.78	28	SNP	0.000	A
TARS2	80222	genome.wustl.edu	37	1	150464915	150464915	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:150464915G>A	ENST00000369064.3	+	7	758	c.724G>A	c.(724-726)Ggc>Agc	p.G242S	TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000606933.1_Missense_Mutation_p.G242S|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	242					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	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;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCTTTGCCAGGGCCCCCACCT	0.493																																						dbGAP											0													148.0	149.0	149.0					1																	150464915		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.724G>A	1.37:g.150464915G>A	ENSP00000358060:p.Gly242Ser		Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	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,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-synth_IIa,tigrfam_Thr-tRNA-synth_IIa	p.G242S	ENST00000369064.3	37	c.724	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.318641	0.95682	.	.	ENSG00000143374	ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.28	5.28	0.74379	Threonyl/alanyl tRNA synthetase, SAD (2);Threonyl/alanyl tRNA synthetase, class II-like, putative editing domain (1);	0.128901	0.52532	D	0.000078	D	0.85173	0.5636	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.97110	1.0;0.917	D	0.88329	0.2967	9	0.87932	D	0	-28.8149	17.892	0.88875	0.0:0.0:1.0:0.0	.	49;242	E7EVR9;Q9BW92	.;SYTM_HUMAN	S	242;49;49	.	ENSP00000358047:G49S	G	+	1	0	TARS2	148731539	1.000000	0.71417	0.969000	0.41365	0.975000	0.68041	7.907000	0.87430	2.763000	0.94921	0.644000	0.83932	GGC	TARS2	-	pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,tigrfam_Thr-tRNA-synth_IIa	ENSG00000143374		0.493	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	75	0.00	0	G	NM_025150		150464915	150464915	+1	no_errors	ENST00000369064	ensembl	human	known	69_37n	missense	92	32.35	44	SNP	0.999	A
TBC1D1	23216	genome.wustl.edu	37	4	38134822	38134822	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:38134822G>A	ENST00000261439.4	+	19	3605	c.3250G>A	c.(3250-3252)Gag>Aag	p.E1084K	TBC1D1_ENST00000508802.1_Missense_Mutation_p.E1075K|TBC1D1_ENST00000407365.1_3'UTR	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	1084					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						GGATAAATTAGAGAAAACCAA	0.398																																						dbGAP											0													110.0	103.0	105.0					4																	38134822		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.3250G>A	4.37:g.38134822G>A	ENSP00000261439:p.Glu1084Lys		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.E1084K	ENST00000261439.4	37	c.3250	CCDS33972.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.235816|5.235816	0.95240|0.95240	.|.	.|.	ENSG00000065882|ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732|ENST00000510573	T;T|.	0.05717|.	3.4;3.92|.	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	T|T	0.76793|0.76793	0.4037|0.4037	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;0.997;1.0|.	D;D;D|.	0.91635|.	0.994;0.985;0.999|.	T|T	0.76440|0.76440	-0.2958|-0.2958	10|5	0.39692|.	T|.	0.17|.	-31.2217|-31.2217	18.7978|18.7978	0.92003|0.92003	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1075;816;1084|.	E9PGH8;Q6PJJ8;Q86TI0|.	.;.;TBCD1_HUMAN|.	K|K	1075;1084;348|771	ENSP00000423651:E1075K;ENSP00000261439:E1084K|.	ENSP00000261439:E1084K|.	E|R	+|+	1|2	0|0	TBC1D1|TBC1D1	37811217|37811217	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.938000|0.938000	0.57974|0.57974	9.208000|9.208000	0.95075|0.95075	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	GAG|AGA	TBC1D1	-	NULL	ENSG00000065882		0.398	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	130	0.00	0	G	NM_015173		38134822	38134822	+1	no_errors	ENST00000261439	ensembl	human	known	69_37n	missense	81	10.00	9	SNP	1.000	A
TBC1D1	23216	genome.wustl.edu	37	4	38138769	38138769	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:38138769G>A	ENST00000261439.4	+	20	3675	c.3320G>A	c.(3319-3321)aGg>aAg	p.R1107K	TBC1D1_ENST00000508802.1_Missense_Mutation_p.R1098K|TBC1D1_ENST00000407365.1_3'UTR	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	1107					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						GCAAATGGTAGGATCCAAAGC	0.532																																						dbGAP											0													77.0	77.0	77.0					4																	38138769		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.3320G>A	4.37:g.38138769G>A	ENSP00000261439:p.Arg1107Lys		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.R1107K	ENST00000261439.4	37	c.3320	CCDS33972.1	4	.	.	.	.	.	.	.	.	.	.	G	2.531	-0.308594	0.05458	.	.	ENSG00000065882	ENST00000508802;ENST00000261439;ENST00000454732	T;T	0.03860	3.78;4.18	5.16	1.07	0.20283	.	0.359585	0.27572	N	0.018779	T	0.01870	0.0059	N	0.04787	-0.16	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	0.47394	-0.9121	10	0.02654	T	1	-15.6412	7.7345	0.28806	0.5123:0.0:0.4877:0.0	.	1098;839;1107	E9PGH8;Q6PJJ8;Q86TI0	.;.;TBCD1_HUMAN	K	1098;1107;371	ENSP00000423651:R1098K;ENSP00000261439:R1107K	ENSP00000261439:R1107K	R	+	2	0	TBC1D1	37815164	1.000000	0.71417	0.940000	0.37924	0.756000	0.42949	1.767000	0.38501	0.296000	0.22592	-0.355000	0.07637	AGG	TBC1D1	-	NULL	ENSG00000065882		0.532	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D1	HGNC	protein_coding	OTTHUMT00000317443.2	115	0.00	0	G	NM_015173		38138769	38138769	+1	no_errors	ENST00000261439	ensembl	human	known	69_37n	missense	66	14.29	11	SNP	0.983	A
TBC1D2	55357	genome.wustl.edu	37	9	100995809	100995809	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:100995809C>T	ENST00000375064.1	-	4	708	c.670G>A	c.(670-672)Ggc>Agc	p.G224S	TBC1D2_ENST00000375066.5_Missense_Mutation_p.G224S|TBC1D2_ENST00000342112.5_Missense_Mutation_p.G6S	NM_001267571.1	NP_001254500.1	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	224					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)		TGCTTGTTGCCACGGATGTTG	0.587																																						dbGAP											0													208.0	190.0	196.0					9																	100995809		2203	4300	6503	-	-	-	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.670G>A	9.37:g.100995809C>T	ENSP00000364205:p.Gly224Ser		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.G224S	ENST00000375064.1	37	c.670		9	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142587	0.37825	.	.	ENSG00000095383	ENST00000375064;ENST00000375066;ENST00000342112	T;T;T	0.09630	3.26;2.96;3.48	4.68	1.58	0.23477	.	0.307195	0.32819	N	0.005608	T	0.07279	0.0184	L	0.34521	1.04	0.80722	D	1	B;B	0.18310	0.016;0.027	B;B	0.17722	0.008;0.019	T	0.25222	-1.0138	10	0.37606	T	0.19	.	5.7246	0.18006	0.0:0.6459:0.0:0.3541	.	224;224	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	S	224;224;6	ENSP00000364205:G224S;ENSP00000364207:G224S;ENSP00000341567:G6S	ENSP00000341567:G6S	G	-	1	0	TBC1D2	100035630	0.779000	0.28652	0.971000	0.41717	0.882000	0.50991	0.144000	0.16135	0.586000	0.29626	-0.150000	0.13652	GGC	TBC1D2	-	NULL	ENSG00000095383		0.587	TBC1D2-001	KNOWN	basic|appris_principal	protein_coding	TBC1D2	HGNC	protein_coding	OTTHUMT00000053366.1	104	0.00	0	C	NM_018421		100995809	100995809	-1	no_errors	ENST00000375066	ensembl	human	known	69_37n	missense	99	51.94	107	SNP	0.958	T
TBC1D23	55773	genome.wustl.edu	37	3	100037971	100037971	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:100037971G>A	ENST00000394144.4	+	17	1753	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	TBC1D23_ENST00000344949.5_Silent_p.Q567Q|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Silent_p.Q445Q	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	582					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TAAACATTCAGACTTGGATAA	0.294																																						dbGAP											0													70.0	76.0	74.0					3																	100037971		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1746G>A	3.37:g.100037971G>A			B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom	p.Q582	ENST00000394144.4	37	c.1746	CCDS56265.1	3																																																																																			TBC1D23	-	NULL	ENSG00000036054		0.294	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1	173	0.00	0	G	NM_018309		100037971	100037971	+1	no_errors	ENST00000394144	ensembl	human	known	69_37n	silent	138	18.82	32	SNP	1.000	A
TBC1D23	55773	genome.wustl.edu	37	3	99979974	99979974	+	Intron	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:99979974G>A	ENST00000394144.4	+	1	60				TBC1D23_ENST00000344949.5_Intron|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23						positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCACCATCTTGCCGGTCCCCG	0.647																																						dbGAP											0													23.0	28.0	27.0					3																	99979974		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.53+59G>A	3.37:g.99979974G>A			B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	RNA	SNP	-	NULL	ENST00000394144.4	37	NULL	CCDS56265.1	3																																																																																			TBC1D23	-	-	ENSG00000036054		0.647	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1	18	0.00	0	G	NM_018309		99979974	99979974	+1	no_errors	ENST00000486274	ensembl	human	known	69_37n	rna	21	46.15	18	SNP	0.000	A
TBC1D23	55773	genome.wustl.edu	37	3	100038017	100038017	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:100038017G>A	ENST00000394144.4	+	17	1799	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	TBC1D23_ENST00000344949.5_Missense_Mutation_p.E583K|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.E461K	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	598					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCCTTGTAAAGAAGTAAAAGA	0.308																																						dbGAP											0													77.0	85.0	82.0					3																	100038017		2202	4295	6497	-	-	-	SO:0001583	missense	0			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1792G>A	3.37:g.100038017G>A	ENSP00000377700:p.Glu598Lys		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom	p.E598K	ENST00000394144.4	37	c.1792	CCDS56265.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.562497	0.96527	.	.	ENSG00000036054	ENST00000344949;ENST00000394144;ENST00000475134	T;T;T	0.41400	1.0;1.0;1.02	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.65821	0.2728	M	0.69358	2.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.60786	-0.7194	9	.	.	.	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	598;583	Q9NUY8;Q9NUY8-2	TBC23_HUMAN;.	K	583;598;461	ENSP00000340693:E583K;ENSP00000377700:E598K;ENSP00000418059:E461K	.	E	+	1	0	TBC1D23	101520707	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.296000	0.96104	2.879000	0.98667	0.650000	0.86243	GAA	TBC1D23	-	NULL	ENSG00000036054		0.308	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1	194	0.00	0	G	NM_018309		100038017	100038017	+1	no_errors	ENST00000394144	ensembl	human	known	69_37n	missense	154	19.69	38	SNP	1.000	A
TBXAS1	6916	genome.wustl.edu	37	7	139655293	139655293	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:139655293G>A	ENST00000336425.5	+	11	964	c.575G>A	c.(574-576)aGc>aAc	p.S192N	TBXAS1_ENST00000263552.6_Missense_Mutation_p.S193N|TBXAS1_ENST00000416849.2_Missense_Mutation_p.S239N|TBXAS1_ENST00000425687.1_Missense_Mutation_p.S125N|TBXAS1_ENST00000458722.1_Missense_Mutation_p.S238N|TBXAS1_ENST00000448866.1_Missense_Mutation_p.S192N|TBXAS1_ENST00000414508.2_Missense_Mutation_p.S193N|TBXAS1_ENST00000411653.1_Missense_Mutation_p.S192N|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.S193N			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	192					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	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 (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	GTGGTTGCCAGCGTCGCCTTT	0.572																																						dbGAP											0													103.0	104.0	104.0					7																	139655293		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.575G>A	7.37:g.139655293G>A	ENSP00000338087:p.Ser192Asn		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	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_B	p.S239N	ENST00000336425.5	37	c.716		7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359343	0.82353	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000458722;ENST00000411653	T;T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.79	5.79	0.91817	.	0.075271	0.85682	D	0.000000	D	0.87152	0.6106	M	0.87900	2.915	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.997;1.0;1.0;0.997;0.997	D;D;D;D;D;D;D	0.97110	0.992;1.0;0.978;1.0;0.995;0.968;0.968	D	0.88120	0.2831	10	0.66056	D	0.02	.	20.04	0.97581	0.0:0.0:1.0:0.0	.	173;239;144;125;193;193;192	B4DVP1;E7EP08;B4E0M5;E7ESB5;E7EMU9;Q53F23;P24557	.;.;.;.;.;.;THAS_HUMAN	N	125;193;192;239;193;193;192;238;192	ENSP00000388736:S125N;ENSP00000263552:S193N;ENSP00000338087:S192N;ENSP00000389414:S239N;ENSP00000392361:S193N;ENSP00000392702:S193N;ENSP00000402536:S192N;ENSP00000411274:S238N;ENSP00000411326:S192N	ENSP00000263552:S193N	S	+	2	0	TBXAS1	139301762	1.000000	0.71417	0.963000	0.40424	0.374000	0.29953	8.723000	0.91458	2.733000	0.93635	0.655000	0.94253	AGC	TBXAS1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000059377		0.572	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	TBXAS1	HGNC	protein_coding	OTTHUMT00000348373.1	184	0.00	0	G			139655293	139655293	+1	no_errors	ENST00000416849	ensembl	human	known	69_37n	missense	232	15.64	43	SNP	1.000	A
TCEB3	6924	genome.wustl.edu	37	1	24082787	24082787	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:24082787G>A	ENST00000418390.2	+	9	2345	c.2074G>A	c.(2074-2076)Gtc>Atc	p.V692I	TCEB3_ENST00000609199.1_Missense_Mutation_p.V666I	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	692	Activation domain. {ECO:0000250}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GATGGCCTTTGTCAACTCTGT	0.483																																						dbGAP											0													47.0	44.0	45.0					1																	24082787		2202	4299	6501	-	-	-	SO:0001583	missense	0			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.2074G>A	1.37:g.24082787G>A	ENSP00000395574:p.Val692Ile		B2R7Q8|Q8IXH1	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.V692I	ENST00000418390.2	37	c.2074	CCDS239.2	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135482	0.77662	.	.	ENSG00000011007	ENST00000418390	T	0.38077	1.16	5.61	5.61	0.85477	.	0.221514	0.31323	N	0.007860	T	0.49677	0.1571	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.38001	-0.9681	10	0.36615	T	0.2	-16.6594	19.9979	0.97390	0.0:0.0:1.0:0.0	.	692	Q14241	ELOA1_HUMAN	I	692	ENSP00000395574:V692I	ENSP00000395574:V692I	V	+	1	0	TCEB3	23955374	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.150000	0.71801	2.804000	0.96469	0.462000	0.41574	GTC	TCEB3	-	pfam_RNA_pol_II_trans_fac_SIII_A	ENSG00000011007		0.483	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	13	0.00	0	G	NM_003198		24082787	24082787	+1	no_errors	ENST00000418390	ensembl	human	known	69_37n	missense	18	62.50	30	SNP	1.000	A
TCEB3	6924	genome.wustl.edu	37	1	24086039	24086039	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:24086039C>T	ENST00000418390.2	+	11	2644	c.2373C>T	c.(2371-2373)ttC>ttT	p.F791F	TCEB3_ENST00000609199.1_Silent_p.F765F|RP5-886K2.3_ENST00000427796.1_RNA	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	791					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTAAAGCTTTCAAGAACAGAT	0.483																																						dbGAP											0													69.0	66.0	67.0					1																	24086039		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.2373C>T	1.37:g.24086039C>T			B2R7Q8|Q8IXH1	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like	p.F791	ENST00000418390.2	37	c.2373	CCDS239.2	1																																																																																			TCEB3	-	NULL	ENSG00000011007		0.483	TCEB3-001	KNOWN	basic|CCDS	protein_coding	TCEB3	HGNC	protein_coding	OTTHUMT00000008230.2	88	0.00	0	C	NM_003198		24086039	24086039	+1	no_errors	ENST00000418390	ensembl	human	known	69_37n	silent	76	33.04	38	SNP	1.000	T
TCEB3B	51224	genome.wustl.edu	37	18	44560096	44560096	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr18:44560096C>T	ENST00000332567.4	-	1	1892	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	514	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCGAGTACACCGGCATCTTA	0.607																																						dbGAP											0													72.0	82.0	79.0					18																	44560096		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1540G>A	18.37:g.44560096C>T	ENSP00000331302:p.Val514Met		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.V514M	ENST00000332567.4	37	c.1540	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268025	0.40095	.	.	ENSG00000206181	ENST00000332567	T	0.22945	1.93	2.1	1.21	0.21127	.	0.000000	0.45606	D	0.000344	T	0.42988	0.1227	M	0.76727	2.345	0.20489	N	0.999898	D	0.89917	1.0	D	0.87578	0.998	T	0.13980	-1.0489	10	0.87932	D	0	-39.1981	4.7727	0.13164	0.0:0.8144:0.0:0.1856	.	514	Q8IYF1	ELOA2_HUMAN	M	514	ENSP00000331302:V514M	ENSP00000331302:V514M	V	-	1	0	TCEB3B	42814094	0.530000	0.26330	0.002000	0.10522	0.125000	0.20455	1.597000	0.36729	0.456000	0.26937	0.609000	0.83330	GTG	TCEB3B	-	NULL	ENSG00000206181		0.607	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	117	0.00	0	C	NM_016427		44560096	44560096	-1	no_errors	ENST00000332567	ensembl	human	known	69_37n	missense	107	10.08	12	SNP	0.025	T
TCEB3B	51224	genome.wustl.edu	37	18	44560634	44560634	+	Silent	SNP	G	G	A	rs540412608		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr18:44560634G>A	ENST00000332567.4	-	1	1354	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	334					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTTTCTCCTCGGGCGACAGGC	0.592																																						dbGAP											0													75.0	71.0	72.0					18																	44560634		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1002C>T	18.37:g.44560634G>A			Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.P334	ENST00000332567.4	37	c.1002	CCDS11932.1	18																																																																																			TCEB3B	-	NULL	ENSG00000206181		0.592	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	79	0.00	0	G	NM_016427		44560634	44560634	-1	no_errors	ENST00000332567	ensembl	human	known	69_37n	silent	69	42.98	52	SNP	0.000	A
TCP11L1	55346	genome.wustl.edu	37	11	33065467	33065467	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:33065467G>A	ENST00000334274.4	+	2	548	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	TCP11L1_ENST00000432887.1_Missense_Mutation_p.V50M|TCP11L1_ENST00000531632.2_Missense_Mutation_p.V50M|TCP11L1_ENST00000530171.1_3'UTR	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	50						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						CCCCCAAAGAGTGCAGAGACC	0.453																																						dbGAP											0													145.0	148.0	147.0					11																	33065467		2202	4298	6500	-	-	-	SO:0001583	missense	0			BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.148G>A	11.37:g.33065467G>A	ENSP00000335595:p.Val50Met		D3DR01|Q8IVX4	Missense_Mutation	SNP	pfam_Tcp11	p.V50M	ENST00000334274.4	37	c.148	CCDS7882.1	11	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621150	0.28889	.	.	ENSG00000176148	ENST00000530419;ENST00000334274;ENST00000531632;ENST00000432887;ENST00000528898	T;T;T;T	0.23950	1.88;2.89;2.89;2.89	5.5	-0.623	0.11556	.	0.787356	0.12041	N	0.505049	T	0.20292	0.0488	L	0.51422	1.61	0.09310	N	0.999998	B	0.31790	0.34	B	0.30105	0.111	T	0.17561	-1.0365	10	0.32370	T	0.25	-2.7848	8.5829	0.33640	0.1532:0.3693:0.4776:0.0	.	50	Q9NUJ3	T11L1_HUMAN	M	50	ENSP00000436428:V50M;ENSP00000335595:V50M;ENSP00000433067:V50M;ENSP00000395070:V50M	ENSP00000335595:V50M	V	+	1	0	TCP11L1	33022043	0.004000	0.15560	0.086000	0.20670	0.918000	0.54935	-0.173000	0.09854	-0.005000	0.14395	0.491000	0.48974	GTG	TCP11L1	-	NULL	ENSG00000176148		0.453	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCP11L1	HGNC	protein_coding	OTTHUMT00000383377.4	187	0.00	0	G	NM_018393		33065467	33065467	+1	no_errors	ENST00000527661	ensembl	human	known	69_37n	missense	169	28.69	68	SNP	0.002	A
TET2	54790	genome.wustl.edu	37	4	106157065	106157065	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:106157065C>T	ENST00000540549.1	+	3	2826	c.1966C>T	c.(1966-1968)Ccc>Tcc	p.P656S	TET2_ENST00000545826.1_Missense_Mutation_p.P656S|TET2_ENST00000394764.1_Missense_Mutation_p.P656S|TET2_ENST00000413648.2_Missense_Mutation_p.P656S|TET2_ENST00000305737.2_Missense_Mutation_p.P656S|TET2_ENST00000513237.1_Missense_Mutation_p.P677S|TET2_ENST00000380013.4_Missense_Mutation_p.P656S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	656	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GTTCCAAAAACCCTCACACCA	0.443			"""Mis N, F"""		MDS																																	dbGAP		Rec	yes		4	4q24	54790	tet oncogene family member 2		L	0													101.0	100.0	101.0					4																	106157065		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.1966C>T	4.37:g.106157065C>T	ENSP00000442788:p.Pro656Ser		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	NULL	p.P656S	ENST00000540549.1	37	c.1966	CCDS47120.1	4	.	.	.	.	.	.	.	.	.	.	C	9.386	1.074235	0.20227	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49;2.49	5.07	0.128	0.14733	.	4.209150	0.01197	U	0.007497	T	0.09905	0.0243	N	0.24115	0.695	0.09310	N	1	B;B;B	0.22146	0.017;0.017;0.065	B;B;B	0.18561	0.004;0.004;0.022	T	0.24190	-1.0167	10	0.33940	T	0.23	.	4.3237	0.11029	0.2459:0.4344:0.2483:0.0713	.	677;656;656	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	S	656;656;656;677;656;656;656	ENSP00000306705:P656S;ENSP00000442788:P656S;ENSP00000442867:P656S;ENSP00000425443:P677S;ENSP00000369351:P656S;ENSP00000378245:P656S;ENSP00000391448:P656S	ENSP00000265149:P656S	P	+	1	0	TET2	106376514	0.000000	0.05858	0.035000	0.18076	0.839000	0.47603	0.325000	0.19628	-0.202000	0.10268	0.655000	0.94253	CCC	TET2	-	NULL	ENSG00000168769		0.443	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	TET2	HGNC	protein_coding	OTTHUMT00000253952.2	234	0.00	0	C	NM_017628		106157065	106157065	+1	no_errors	ENST00000380013	ensembl	human	known	69_37n	missense	180	13.46	28	SNP	0.016	T
TEX261	113419	genome.wustl.edu	37	2	71216946	71216946	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:71216946C>T	ENST00000272438.4	-	4	492	c.305G>A	c.(304-306)gGa>gAa	p.G102E	TEX261_ENST00000466731.1_5'UTR|AC007040.11_ENST00000606025.1_Splice_Site_p.G102E	NM_144582.2	NP_653183.2	Q6UWH6	TX261_HUMAN	testis expressed 261	102						integral component of membrane (GO:0016021)				NS(1)|breast(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CACCACTAGTCCTGTTGAGGG	0.423																																						dbGAP											0													103.0	95.0	98.0					2																	71216946		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL832385	CCDS1914.1	2p13.3	2013-09-24	2007-03-13		ENSG00000144043	ENSG00000144043			30712	protein-coding gene	gene with protein product			"""testis expressed sequence 261"""			9464256	Standard	NM_144582		Approved	MGC32043, TEG-261	uc002shn.3	Q6UWH6	OTTHUMG00000129708	ENST00000272438.4:c.305-1G>A	2.37:g.71216946C>T			A1A587|D6W5G9|Q8WUJ5	Missense_Mutation	SNP	pfam_Transmembrane_adaptor_Erv26	p.G102E	ENST00000272438.4	37	c.305	CCDS1914.1	2	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414565	0.42817	.	.	ENSG00000144043	ENST00000272438	.	.	.	5.06	3.07	0.35406	.	0.060583	0.64402	D	0.000005	T	0.46386	0.1390	L	0.39245	1.2	0.44570	D	0.997534	B	0.26195	0.144	B	0.29716	0.106	T	0.49679	-0.8914	9	0.66056	D	0.02	.	7.4276	0.27109	0.2955:0.5468:0.1577:0.0	.	102	Q6UWH6	TX261_HUMAN	E	102	.	ENSP00000272438:G102E	G	-	2	0	TEX261	71070454	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	4.763000	0.62257	1.419000	0.47118	0.655000	0.94253	GGA	TEX261	-	pfam_Transmembrane_adaptor_Erv26	ENSG00000144043		0.423	TEX261-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX261	HGNC	protein_coding	OTTHUMT00000251916.1	70	0.00	0	C	NM_144582	Missense_Mutation	71216946	71216946	-1	no_errors	ENST00000272438	ensembl	human	known	69_37n	missense	41	14.58	7	SNP	0.998	T
TET3	200424	genome.wustl.edu	37	2	74328503	74328503	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:74328503C>T	ENST00000409262.3	+	9	4183	c.4183C>T	c.(4183-4185)Ctg>Ttg	p.L1395L		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1395					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGGCCCAGCCTGACTGAGAA	0.632																																						dbGAP											0													25.0	32.0	30.0					2																	74328503		1881	4108	5989	-	-	-	SO:0001819	synonymous_variant	0				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4183C>T	2.37:g.74328503C>T			A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	NULL	p.L1395	ENST00000409262.3	37	c.4183	CCDS46339.1	2																																																																																			TET3	-	NULL	ENSG00000187605		0.632	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	45	0.00	0	C			74328503	74328503	+1	no_errors	ENST00000409262	ensembl	human	known	69_37n	silent	47	20.34	12	SNP	1.000	T
TF	7018	genome.wustl.edu	37	3	133467373	133467373	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:133467373C>T	ENST00000402696.3	+	2	646	c.161C>T	c.(160-162)cCc>cTc	p.P54L	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	54	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TCCGATGGTCCCAGTGTTGCT	0.498																																						dbGAP											0													191.0	152.0	165.0					3																	133467373		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.161C>T	3.37:g.133467373C>T	ENSP00000385834:p.Pro54Leu		O43890|Q1HBA5|Q9NQB8|Q9UHV0	Missense_Mutation	SNP	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	p.P54L	ENST00000402696.3	37	c.161	CCDS3080.1	3	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822901	0.50739	.	.	ENSG00000091513	ENST00000402696;ENST00000466911	T;T	0.35048	1.33;1.33	4.56	1.82	0.25136	.	0.394624	0.28635	N	0.014643	T	0.47507	0.1449	M	0.75085	2.285	0.19945	N	0.999942	P	0.42620	0.785	P	0.55260	0.772	T	0.38156	-0.9674	10	0.66056	D	0.02	-7.9784	4.1928	0.10430	0.0:0.5443:0.1704:0.2853	.	54	P02787	TRFE_HUMAN	L	54;10	ENSP00000385834:P54L;ENSP00000417468:P10L	ENSP00000385834:P54L	P	+	2	0	TF	134950063	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.085000	0.11250	0.201000	0.20466	-0.251000	0.11542	CCC	TF	-	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin	ENSG00000091513		0.498	TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TF	HGNC	protein_coding	OTTHUMT00000317775.1	45	0.00	0	C	NM_001063		133467373	133467373	+1	no_errors	ENST00000402696	ensembl	human	known	69_37n	missense	42	10.64	5	SNP	0.004	T
TFAP2B	7021	genome.wustl.edu	37	6	50807997	50807997	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:50807997C>T	ENST00000393655.3	+	6	1238	c.1069C>T	c.(1069-1071)Ctg>Ttg	p.L357L	TFAP2B_ENST00000263046.4_Silent_p.L366L	NM_003221.3	NP_003212.2	Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	357					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)					AAAGAATATGCTGTTGGCCAC	0.557																																					Pancreas(116;1373 2332 5475 10752)	dbGAP											0													88.0	89.0	89.0					6																	50807997		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.1069C>T	6.37:g.50807997C>T			Q5JYX6|Q9NQ63|Q9NU99|Q9UJI7|Q9Y214|Q9Y3K3	Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C	p.L366	ENST00000393655.3	37	c.1096	CCDS4934.2	6																																																																																			TFAP2B	-	pfam_TF_AP2_C	ENSG00000008196		0.557	TFAP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2B	HGNC	protein_coding	OTTHUMT00000040886.3	180	0.00	0	C	NM_003221		50807997	50807997	+1	no_errors	ENST00000263046	ensembl	human	known	69_37n	silent	135	24.86	45	SNP	1.000	T
TFCP2	7024	genome.wustl.edu	37	12	51493562	51493562	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:51493562C>T	ENST00000257915.5	-	12	1610	c.1152G>A	c.(1150-1152)cgG>cgA	p.R384R	TFCP2_ENST00000549867.1_Splice_Site_p.G306G|TFCP2_ENST00000307660.4_Splice_Site_p.R333R|TFCP2_ENST00000548115.1_Splice_Site_p.R333R	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	384	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GACGCACCATCCTAAGGGGAG	0.418																																						dbGAP											0													150.0	116.0	127.0					12																	51493562		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.1152-1G>A	12.37:g.51493562C>T			A8K5E9|Q12801|Q9UD75|Q9UD77	Silent	SNP	pfam_CP2,superfamily_SAM/pointed	p.R384	ENST00000257915.5	37	c.1152	CCDS8808.1	12																																																																																			TFCP2	-	superfamily_SAM/pointed	ENSG00000135457		0.418	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1	163	0.00	0	C	NM_005653	Silent	51493562	51493562	-1	no_errors	ENST00000257915	ensembl	human	known	69_37n	silent	225	21.11	61	SNP	1.000	T
TFDP2	7029	genome.wustl.edu	37	3	141693019	141693019	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:141693019C>T	ENST00000489671.1	-	8	964	c.534G>A	c.(532-534)aaG>aaA	p.K178K	TFDP2_ENST00000479040.1_Silent_p.K117K|TFDP2_ENST00000310282.6_Silent_p.K118K|TFDP2_ENST00000397991.4_Silent_p.K150K|TFDP2_ENST00000467072.1_Silent_p.K118K|TFDP2_ENST00000499676.2_Silent_p.K118K|TFDP2_ENST00000495310.1_Silent_p.K81K|TFDP2_ENST00000486111.1_Silent_p.K118K|TFDP2_ENST00000477292.1_Silent_p.K42K|TFDP2_ENST00000317104.7_Silent_p.K102K			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	178					gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						GCCTAATGTTCTTCTGATCAT	0.308																																						dbGAP											0													86.0	80.0	82.0					3																	141693019		1824	4089	5913	-	-	-	SO:0001819	synonymous_variant	0			U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.534G>A	3.37:g.141693019C>T			B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Silent	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	p.K178	ENST00000489671.1	37	c.534	CCDS54650.1	3																																																																																			TFDP2	-	pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	ENSG00000114126		0.308	TFDP2-001	KNOWN	basic|CCDS	protein_coding	TFDP2	HGNC	protein_coding	OTTHUMT00000353294.4	149	0.00	0	C	NM_006286		141693019	141693019	-1	no_errors	ENST00000489671	ensembl	human	known	69_37n	silent	86	14.85	15	SNP	1.000	T
TGFB3	7043	genome.wustl.edu	37	14	76446979	76446979	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:76446979C>T	ENST00000238682.3	-	1	555	c.258G>A	c.(256-258)gaG>gaA	p.E86E	TGFB3_ENST00000556674.1_5'Flank|TGFB3_ENST00000556285.1_Silent_p.E86E	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	86					activation of MAPK activity (GO:0000187)|aging (GO:0007568)|blood coagulation (GO:0007596)|cell growth (GO:0016049)|cell-cell junction organization (GO:0045216)|detection of hypoxia (GO:0070483)|digestive tract development (GO:0048565)|embryonic neurocranium morphogenesis (GO:0048702)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|female pregnancy (GO:0007565)|frontal suture morphogenesis (GO:0060364)|in utero embryonic development (GO:0001701)|inner ear development (GO:0048839)|lung alveolus development (GO:0048286)|mammary gland development (GO:0030879)|menstrual cycle phase (GO:0022601)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of macrophage cytokine production (GO:0010936)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|odontogenesis (GO:0042476)|ossification involved in bone remodeling (GO:0043932)|palate development (GO:0060021)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell division (GO:0051781)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|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, DNA-templated (GO:0045893)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to laminar fluid shear stress (GO:0034616)|response to progesterone (GO:0032570)|salivary gland morphogenesis (GO:0007435)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|T-tubule (GO:0030315)	identical protein binding (GO:0042802)|transforming growth factor beta binding (GO:0050431)|type I transforming growth factor beta receptor binding (GO:0034713)|type II transforming growth factor beta receptor binding (GO:0005114)			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CTTCCTCCCTCTCCCCATGCA	0.572																																						dbGAP											0													147.0	141.0	143.0					14																	76446979		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9846.1	14q24	2014-09-17				ENSG00000119699		"""Endogenous ligands"""	11769	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-3"""	190230	"""arrhythmogenic right ventricular dysplasia 1"""	ARVD1, ARVD		16549496, 15639475	Standard	XM_005268028		Approved		uc001xsc.2	P10600		ENST00000238682.3:c.258G>A	14.37:g.76446979C>T			Q8WV88	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_TGF-beta,prints_Transform_grow_fac_b3,prints_TGF-beta	p.E86	ENST00000238682.3	37	c.258	CCDS9846.1	14																																																																																			TGFB3	-	pfam_TGF-b_N,pirsf_TGF-beta,prints_Transform_grow_fac_b3	ENSG00000119699		0.572	TGFB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFB3	HGNC	protein_coding	OTTHUMT00000413685.1	140	0.00	0	C	NM_003239		76446979	76446979	-1	no_errors	ENST00000238682	ensembl	human	known	69_37n	silent	78	16.13	15	SNP	1.000	T
TGS1	96764	genome.wustl.edu	37	8	56723574	56723574	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:56723574G>A	ENST00000260129.5	+	11	2755	c.2278G>A	c.(2278-2280)Gtg>Atg	p.V760M		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	760	Sufficient for catalytic activity.				7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GGCTGATGTTGTGTTCCTCAG	0.448																																					Esophageal Squamous(34;275 823 4842 34837 48447)	dbGAP											0													175.0	173.0	174.0					8																	56723574		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.2278G>A	8.37:g.56723574G>A	ENSP00000260129:p.Val760Met		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.V760M	ENST00000260129.5	37	c.2278	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518306	0.85495	.	.	ENSG00000137574	ENST00000260129	T	0.62105	0.05	5.47	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.84727	0.0743	10	0.87932	D	0	-14.4745	14.0868	0.64962	0.0724:0.0:0.9276:0.0	.	760	Q96RS0	TGS1_HUMAN	M	760	ENSP00000260129:V760M	ENSP00000260129:V760M	V	+	1	0	TGS1	56886128	1.000000	0.71417	0.637000	0.29366	0.989000	0.77384	9.823000	0.99369	1.302000	0.44855	0.655000	0.94253	GTG	TGS1	-	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom	ENSG00000137574		0.448	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1	167	0.00	0	G	NM_024831		56723574	56723574	+1	no_errors	ENST00000260129	ensembl	human	known	69_37n	missense	276	13.75	44	SNP	1.000	A
THRAP3	9967	genome.wustl.edu	37	1	36752700	36752700	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:36752700G>A	ENST00000354618.5	+	4	1093	c.869G>A	c.(868-870)gGt>gAt	p.G290D	THRAP3_ENST00000469141.2_Missense_Mutation_p.G290D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	290	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|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(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCGAGTGGTGCCGGGTAT	0.592			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	dbGAP		Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													74.0	75.0	74.0					1																	36752700		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.869G>A	1.37:g.36752700G>A	ENSP00000346634:p.Gly290Asp		D3DPS5|Q5VTK6	Missense_Mutation	SNP	NULL	p.G290D	ENST00000354618.5	37	c.869	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969916	0.53614	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.14640	2.49;2.49	5.85	5.85	0.93711	.	0.156351	0.46145	D	0.000320	T	0.20861	0.0502	N	0.22421	0.69	0.40354	D	0.979167	P	0.50156	0.932	P	0.53450	0.726	T	0.00733	-1.1589	10	0.72032	D	0.01	-6.439	19.1531	0.93496	0.0:0.0:1.0:0.0	.	290	Q9Y2W1	TR150_HUMAN	D	290	ENSP00000346634:G290D;ENSP00000433825:G290D	ENSP00000346634:G290D	G	+	2	0	THRAP3	36525287	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	4.738000	0.62073	2.753000	0.94483	0.655000	0.94253	GGT	THRAP3	-	NULL	ENSG00000054118		0.592	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	139	0.00	0	G	NM_005119		36752700	36752700	+1	no_errors	ENST00000354618	ensembl	human	known	69_37n	missense	131	25.99	46	SNP	1.000	A
THSD7B	80731	genome.wustl.edu	37	2	137988705	137988705	+	Silent	SNP	C	C	T	rs143921844	byFrequency	TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:137988705C>T	ENST00000409968.1	+	8	1993	c.1815C>T	c.(1813-1815)agC>agT	p.S605S	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.S574S|THSD7B_ENST00000272643.3_Silent_p.S605S			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	605	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGTGCTGAGCGAGTGGACGG	0.512													C|||	2	0.000399361	0.0	0.0	5008	,	,		18151	0.0		0.001	False		,,,				2504	0.001					dbGAP											0													88.0	88.0	88.0					2																	137988705		1998	4160	6158	-	-	-	SO:0001819	synonymous_variant	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1815C>T	2.37:g.137988705C>T				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S605	ENST00000409968.1	37	c.1815		2																																																																																			THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.512	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	62	0.00	0	C	XM_046570.9		137988705	137988705	+1	no_errors	ENST00000272643	ensembl	human	known	69_37n	silent	73	19.78	18	SNP	0.013	T
TINAG	27283	genome.wustl.edu	37	6	54186106	54186106	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:54186106G>A	ENST00000259782.4	+	3	527	c.431G>A	c.(430-432)gGa>gAa	p.G144E	TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Missense_Mutation_p.G126E|TINAG_ENST00000370869.3_Missense_Mutation_p.G140E	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	144					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ACATGCTCAGGACAGCAATGG	0.353																																						dbGAP											0													139.0	127.0	131.0					6																	54186106		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.431G>A	6.37:g.54186106G>A	ENSP00000259782:p.Gly144Glu		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.G144E	ENST00000259782.4	37	c.431	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	G	4.493	0.091331	0.08632	.	.	ENSG00000137251	ENST00000370869;ENST00000259782;ENST00000370864	T;T;T	0.51325	0.71;0.71;0.71	5.75	1.88	0.25563	.	0.562572	0.17680	N	0.165649	T	0.08268	0.0206	N	0.20986	0.625	0.26586	N	0.973287	B	0.09022	0.002	B	0.10450	0.005	T	0.36601	-0.9741	10	0.02654	T	1	.	5.0034	0.14275	0.2367:0.1637:0.5997:0.0	.	144	Q9UJW2	TINAG_HUMAN	E	140;144;126	ENSP00000359906:G140E;ENSP00000259782:G144E;ENSP00000359901:G126E	ENSP00000259782:G144E	G	+	2	0	TINAG	54294065	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	2.018000	0.40991	0.754000	0.32968	0.558000	0.71614	GGA	TINAG	-	NULL	ENSG00000137251		0.353	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	141	0.70	1	G	NM_014464		54186106	54186106	+1	no_errors	ENST00000259782	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	0.994	A
TMC3	342125	genome.wustl.edu	37	15	81644152	81644152	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:81644152G>A	ENST00000359440.5	-	10	1101	c.966C>T	c.(964-966)gcC>gcT	p.A322A	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Silent_p.A322A	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CCAGGATGTTGGCAATAATCC	0.537																																						dbGAP											0													62.0	61.0	62.0					15																	81644152		2055	4209	6264	-	-	-	SO:0001819	synonymous_variant	0			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.966C>T	15.37:g.81644152G>A				Silent	SNP	pfam_TMC	p.A322	ENST00000359440.5	37	c.966	CCDS45324.1	15																																																																																			TMC3	-	NULL	ENSG00000188869		0.537	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	32	0.00	0	G	NM_181841		81644152	81644152	-1	no_errors	ENST00000359440	ensembl	human	known	69_37n	silent	14	36.36	8	SNP	1.000	A
TMC5	79838	genome.wustl.edu	37	16	19483509	19483509	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:19483509G>A	ENST00000396229.2	+	11	2631	c.1882G>A	c.(1882-1884)Gga>Aga	p.G628R	TMC5_ENST00000381414.4_Missense_Mutation_p.G628R|TMC5_ENST00000561503.1_Missense_Mutation_p.G269R|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000219821.5_Missense_Mutation_p.G382R|TMC5_ENST00000564959.1_Missense_Mutation_p.G311R|TMC5_ENST00000542583.2_Missense_Mutation_p.G628R	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	628					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGTCTCTACAGGAGTGGCCAT	0.542																																						dbGAP											0													105.0	86.0	92.0					16																	19483509		2197	4300	6497	-	-	-	SO:0001583	missense	0			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1882G>A	16.37:g.19483509G>A	ENSP00000379531:p.Gly628Arg		Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	pfam_TMC	p.G628R	ENST00000396229.2	37	c.1882	CCDS45431.1	16	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413824	0.42817	.	.	ENSG00000103534	ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.78	4.83	0.62350	.	0.486689	0.22077	N	0.064944	T	0.68063	0.2960	M	0.80183	2.485	0.26875	N	0.967668	D;D;D;D;D	0.89917	0.983;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.923;0.996;0.99;0.996;0.998	T	0.62969	-0.6741	10	0.25106	T	0.35	-9.6834	13.9224	0.63940	0.0743:0.0:0.9257:0.0	.	311;382;382;628;628	E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;TMC5_HUMAN;.	R	628;628;628;382;311	ENSP00000370822:G628R;ENSP00000379531:G628R;ENSP00000446274:G628R;ENSP00000219821:G382R	ENSP00000219821:G382R	G	+	1	0	TMC5	19391010	0.996000	0.38824	0.019000	0.16419	0.029000	0.11900	3.253000	0.51469	1.455000	0.47813	0.650000	0.86243	GGA	TMC5	-	NULL	ENSG00000103534		0.542	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	85	0.00	0	G	NM_024780		19483509	19483509	+1	no_errors	ENST00000396229	ensembl	human	known	69_37n	missense	71	17.44	15	SNP	0.448	A
TMEM106A	113277	genome.wustl.edu	37	17	41369111	41369111	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:41369111C>T	ENST00000331615.3	+	8	851				TMEM106A_ENST00000588659.1_Intron|LINC00854_ENST00000593624.1_RNA|TMEM106A_ENST00000536052.1_Intron|LINC00854_ENST00000595400.1_RNA|LINC00854_ENST00000427995.1_RNA|TMEM106A_ENST00000541594.1_Intron	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A							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)		AGCCATGCTGCTACACTCACC	0.547																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	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.615-167C>T	17.37:g.41369111C>T			A8K2X2|B7Z698	RNA	SNP	-	NULL	ENST00000331615.3	37	NULL	CCDS11462.1	17																																																																																			TMEM106A-AS1	-	-	ENSG00000236383		0.547	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106A-AS1	HGNC	protein_coding	OTTHUMT00000453470.2	58	0.00	0	C	NM_145041		41369111	41369111	-1	no_errors	ENST00000427995	ensembl	human	known	69_37n	rna	35	37.93	22	SNP	0.000	T
TMEM120B	144404	genome.wustl.edu	37	12	122218975	122218975	+	3'UTR	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:122218975G>A	ENST00000449592.2	+	0	6468				RHOF_ENST00000537171.1_Intron|TMEM120B_ENST00000538055.1_3'UTR|RHOF_ENST00000267205.2_Intron|RHOF_ENST00000537265.1_Intron	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B							integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CACCACCCAGGAGGCCGGCCT	0.647																																						dbGAP											0													79.0	74.0	76.0					12																	122218975		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.*5347G>A	12.37:g.122218975G>A			A0PK01|B3KX33	RNA	SNP	-	NULL	ENST00000449592.2	37	NULL	CCDS41852.1	12																																																																																			TMEM120B	-	-	ENSG00000188735		0.647	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM120B	HGNC	protein_coding	OTTHUMT00000402158.1	26	0.00	0	G	NM_001080825		122218975	122218975	+1	no_errors	ENST00000538055	ensembl	human	known	69_37n	rna	62	21.52	17	SNP	0.004	A
TMEM35	59353	genome.wustl.edu	37	X	100349768	100349769	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:100349768_100349769insA	ENST00000372930.4	+	2	610_611	c.327_328insA	c.(328-330)gatfs	p.D110fs	TMEM35_ENST00000478351.1_3'UTR|TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	110						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						AGCTGGTCGGTGATCCTCTCAA	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	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	Exception_encountered	X.37:g.100349768_100349769insA	ENSP00000362021:p.Asp110fs		Q9H7Y3	Frame_Shift_Ins	INS	NULL	p.D109fs	ENST00000372930.4	37	c.327_328	CCDS14478.1	X																																																																																			TMEM35	-	NULL	ENSG00000126950		0.559	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM35	HGNC	protein_coding	OTTHUMT00000057508.1	172	0.00	0	-	NM_021637		100349768	100349769	+1	no_errors	ENST00000372930	ensembl	human	known	69_37n	frame_shift_ins	210	10.26	24	INS	0.693:1.000	A
TMEM81	388730	genome.wustl.edu	37	1	205052741	205052741	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:205052741C>T	ENST00000367167.3	-	1	904	c.708G>A	c.(706-708)gtG>gtA	p.V236V		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	236						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)			CGCCACCAACCACTCCAATGG	0.527																																						dbGAP											0													132.0	118.0	123.0					1																	205052741		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.708G>A	1.37:g.205052741C>T			Q6UVZ4	Silent	SNP	pfscan_Ig-like	p.V236	ENST00000367167.3	37	c.708	CCDS1450.1	1																																																																																			TMEM81	-	NULL	ENSG00000174529		0.527	TMEM81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM81	HGNC	protein_coding	OTTHUMT00000090076.1	181	0.00	0	C	NM_203376		205052741	205052741	-1	no_errors	ENST00000367167	ensembl	human	known	69_37n	silent	135	40.53	92	SNP	0.220	T
TMEM63A	9725	genome.wustl.edu	37	1	226047030	226047031	+	Missense_Mutation	DNP	CC	CC	TA			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:226047030_226047031CC>TA	ENST00000366835.3	-	15	1512_1513	c.1242_1243GG>TA	c.(1240-1245)caGGgc>caTAgc	p.414_415QG>HS	TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	414					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)					CAGCGGAGGCCCTGGATAGAGA	0.569																																						dbGAP											0																																										-	-	-	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.1242_1243delinsTA	1.37:g.226047030_226047031delinsTA	ENSP00000355800:p.Q414_G415delinsHS		Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	pfam_DUF221	p.G415S|p.Q414H	ENST00000366835.3	37	c.1243|c.1242	CCDS31042.1	1																																																																																			TMEM63A	-	pfam_DUF221	ENSG00000196187		0.569	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	59	0.00	0	C	NM_014698		226047030|226047031	226047030|226047031	-1	no_errors	ENST00000366835	ensembl	human	known	69_37n	missense	44	34.33|29.03	23|18	SNP	1.000	T|A
TMEM87B	84910	genome.wustl.edu	37	2	112838991	112838991	+	Missense_Mutation	SNP	T	T	C	rs143505295		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:112838991T>C	ENST00000283206.4	+	8	1103	c.734T>C	c.(733-735)aTa>aCa	p.I245T		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	245						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TGGAAAGATATATTAAGAATC	0.353																																						dbGAP											0													151.0	159.0	156.0					2																	112838991		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC092645	CCDS33275.1	2q13	2008-02-05			ENSG00000153214	ENSG00000153214			25913	protein-coding gene	gene with protein product							Standard	NM_032824		Approved	FLJ14681	uc002thm.2	Q96K49	OTTHUMG00000153266	ENST00000283206.4:c.734T>C	2.37:g.112838991T>C	ENSP00000283206:p.Ile245Thr		A8K2M9|Q1RLN2|Q53R54	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.I245T	ENST00000283206.4	37	c.734	CCDS33275.1	2	.	.	.	.	.	.	.	.	.	.	T	19.93	3.918177	0.73098	.	.	ENSG00000153214	ENST00000283206	.	.	.	5.64	3.24	0.37175	.	0.109140	0.64402	N	0.000006	T	0.52256	0.1723	L	0.50333	1.59	0.43230	D	0.995124	P;P	0.47302	0.893;0.853	B;P	0.50617	0.438;0.646	T	0.50808	-0.8784	9	0.87932	D	0	-21.616	5.9961	0.19495	0.1459:0.0803:0.0:0.7737	.	244;245	Q96K49-2;Q96K49	.;TM87B_HUMAN	T	245	.	ENSP00000283206:I245T	I	+	2	0	TMEM87B	112555462	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	6.293000	0.72731	0.407000	0.25591	0.477000	0.44152	ATA	TMEM87B	-	pfam_TM_rcpt_euk	ENSG00000153214		0.353	TMEM87B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM87B	HGNC	protein_coding	OTTHUMT00000330500.1	348	0.00	0	T	NM_032824		112838991	112838991	+1	no_errors	ENST00000283206	ensembl	human	known	69_37n	missense	237	24.20	76	SNP	1.000	C
TNFRSF1B	7133	genome.wustl.edu	37	1	12253011	12253011	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:12253011C>T	ENST00000376259.3	+	6	732	c.643C>T	c.(643-645)Cac>Tac	p.H215Y	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	215					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	AGGGGCAGTACACTTACCCCA	0.622																																						dbGAP											0													168.0	122.0	138.0					1																	12253011		2203	4300	6503	-	-	-	SO:0001583	missense	0			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.643C>T	1.37:g.12253011C>T	ENSP00000365435:p.His215Tyr		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.H215Y	ENST00000376259.3	37	c.643	CCDS145.1	1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.447193	0.01089	.	.	ENSG00000028137	ENST00000376259;ENST00000400863	D	0.85861	-2.04	3.93	-7.87	0.01183	.	3.166720	0.00986	N	0.003457	T	0.53514	0.1801	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62511	-0.6839	10	0.02654	T	1	0.0838	5.3434	0.15996	0.3365:0.1526:0.0:0.5109	.	215	P20333	TNR1B_HUMAN	Y	215	ENSP00000365435:H215Y	ENSP00000365435:H215Y	H	+	1	0	TNFRSF1B	12175598	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.866000	0.01647	-2.019000	0.00942	-0.137000	0.14449	CAC	TNFRSF1B	-	NULL	ENSG00000028137		0.622	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	HGNC	protein_coding	OTTHUMT00000005133.1	47	0.00	0	C	NM_001066		12253011	12253011	+1	no_errors	ENST00000376259	ensembl	human	known	69_37n	missense	28	20.00	7	SNP	0.000	T
TNIP1	10318	genome.wustl.edu	37	5	150425443	150425443	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:150425443C>T	ENST00000389378.2	-	9	1503	c.915G>A	c.(913-915)atG>atA	p.M305I	TNIP1_ENST00000521591.1_Missense_Mutation_p.M305I|TNIP1_ENST00000523200.1_Missense_Mutation_p.M305I|TNIP1_ENST00000315050.7_Missense_Mutation_p.M305I|TNIP1_ENST00000520931.1_Missense_Mutation_p.M252I|TNIP1_ENST00000518977.1_Missense_Mutation_p.M305I|TNIP1_ENST00000522226.1_Missense_Mutation_p.M305I|TNIP1_ENST00000524280.1_Missense_Mutation_p.M305I|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000523338.1_Missense_Mutation_p.M305I	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	305	Interacts with Nef.				defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTGCTCCAGCATCTTCACCT	0.622																																						dbGAP											0													130.0	111.0	118.0					5																	150425443		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.915G>A	5.37:g.150425443C>T	ENSP00000374029:p.Met305Ile		A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.M305I	ENST00000389378.2	37	c.915	CCDS34280.1	5	.	.	.	.	.	.	.	.	.	.	C	2.810	-0.247203	0.05867	.	.	ENSG00000145901	ENST00000520931;ENST00000389378;ENST00000315050;ENST00000523338;ENST00000544828;ENST00000417127;ENST00000539213;ENST00000522226;ENST00000521591;ENST00000518977;ENST00000524280;ENST00000523200;ENST00000545840;ENST00000522100	T;T;T;T;T;T;T;T;T;T	0.11063	2.9;2.9;2.9;2.9;2.9;2.9;2.9;2.89;2.88;2.81	4.72	3.82	0.43975	.	0.159992	0.56097	D	0.000037	T	0.04318	0.0119	N	0.04820	-0.15	0.26573	N	0.973519	B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.06405	0.002;0.002;0.001;0.002;0.001;0.001;0.001	T	0.36163	-0.9759	10	0.21540	T	0.41	-10.4381	5.6846	0.17794	0.0:0.6162:0.2673:0.1165	.	305;259;259;305;305;305;305	B7Z8K2;A4F1X9;A4F1X7;E7EPY1;E7ET96;A4F1W9;Q15025	.;.;.;.;.;.;TNIP1_HUMAN	I	252;305;305;305;262;262;267;305;305;305;305;305;262;252	ENSP00000429891:M252I;ENSP00000374029:M305I;ENSP00000317891:M305I;ENSP00000428243:M305I;ENSP00000428187:M305I;ENSP00000430760:M305I;ENSP00000430971:M305I;ENSP00000429912:M305I;ENSP00000431105:M305I;ENSP00000428487:M252I	ENSP00000317891:M305I	M	-	3	0	TNIP1	150405636	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.663000	0.25053	2.167000	0.68274	0.491000	0.48974	ATG	TNIP1	-	NULL	ENSG00000145901		0.622	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP1	HGNC	protein_coding	OTTHUMT00000374914.1	87	0.00	0	C	NM_006058		150425443	150425443	-1	no_errors	ENST00000315050	ensembl	human	known	69_37n	missense	143	19.21	34	SNP	1.000	T
TNKS1BP1	85456	genome.wustl.edu	37	11	57070110	57070110	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:57070110G>A	ENST00000532437.1	-	6	4817	c.4506C>T	c.(4504-4506)gaC>gaT	p.D1502D	TNKS1BP1_ENST00000358252.3_Silent_p.D1502D			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1502	Acidic.|Tankyrase-binding.				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)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGGGTGGAGAGTCCCTGCCAG	0.682																																						dbGAP											0													25.0	25.0	25.0					11																	57070110		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4506C>T	11.37:g.57070110G>A			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.D1502	ENST00000532437.1	37	c.4506	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL	ENSG00000149115		0.682	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	42	0.00	0	G	NM_033396		57070110	57070110	-1	no_errors	ENST00000358252	ensembl	human	known	69_37n	silent	50	12.28	7	SNP	0.000	A
TNNT1	7138	genome.wustl.edu	37	19	55649353	55649353	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:55649353G>A	ENST00000588981.1	-	10	681	c.477C>T	c.(475-477)gcC>gcT	p.A159A	TNNT1_ENST00000592920.1_5'Flank|TNNT1_ENST00000587758.1_Silent_p.A148A|TNNT1_ENST00000291901.8_Silent_p.A159A|TNNT1_ENST00000588426.1_Silent_p.A56A|TNNT1_ENST00000356783.5_Silent_p.A148A|TNNT1_ENST00000585321.2_Silent_p.A89A|TNNT1_ENST00000587465.2_Silent_p.A89A|TNNT1_ENST00000536926.1_Silent_p.A148A	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	159					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CGCCAAAATGGGCCCCCATGT	0.582																																						dbGAP											0													175.0	157.0	163.0					19																	55649353		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.477C>T	19.37:g.55649353G>A			O95472|Q16061|Q5U0E1	Silent	SNP	pfam_Troponin	p.A159	ENST00000588981.1	37	c.477	CCDS12917.1	19																																																																																			TNNT1	-	pfam_Troponin	ENSG00000105048		0.582	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNNT1	HGNC	protein_coding	OTTHUMT00000451825.2	67	0.00	0	G	NM_003283		55649353	55649353	-1	no_errors	ENST00000588981	ensembl	human	known	69_37n	silent	45	42.31	33	SNP	0.974	A
TNNT1	7138	genome.wustl.edu	37	19	55649424	55649424	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:55649424C>T	ENST00000588981.1	-	10	610	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587758.1_Missense_Mutation_p.E125K|TNNT1_ENST00000291901.8_Missense_Mutation_p.E136K|TNNT1_ENST00000588426.1_Missense_Mutation_p.E33K|TNNT1_ENST00000356783.5_Missense_Mutation_p.E125K|TNNT1_ENST00000585321.2_Missense_Mutation_p.E66K|TNNT1_ENST00000587465.2_Missense_Mutation_p.E66K|TNNT1_ENST00000536926.1_Missense_Mutation_p.E125K	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	136					muscle filament sliding (GO:0030049)|negative regulation of muscle contraction (GO:0045932)|skeletal muscle contraction (GO:0003009)|slow-twitch skeletal muscle fiber contraction (GO:0031444)	cytosol (GO:0005829)|troponin complex (GO:0005861)	tropomyosin binding (GO:0005523)			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		TCTTCCTCTTCCTTCCTCATC	0.567																																						dbGAP											0													178.0	151.0	160.0					19																	55649424		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12917.1, CCDS46185.1, CCDS59421.1	19q13.4	2014-09-17	2005-09-12			ENSG00000105048			11948	protein-coding gene	gene with protein product	"""slow skeletal muscle troponin T"", ""troponin T1, skeletal, slow"", ""nemaline myopathy type 5"""	191041	"""troponin T1, skeletal, slow"""			1505979	Standard	XM_006723343		Approved	ANM, STNT, TNT, TNTS, FLJ98147, MGC104241, NEM5	uc002qjb.4	P13805		ENST00000588981.1:c.406G>A	19.37:g.55649424C>T	ENSP00000467176:p.Glu136Lys		O95472|Q16061|Q5U0E1	Missense_Mutation	SNP	pfam_Troponin	p.E136K	ENST00000588981.1	37	c.406	CCDS12917.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.186658	0.94885	.	.	ENSG00000105048	ENST00000291901;ENST00000356783;ENST00000536926;ENST00000537693;ENST00000429737	D;D;D	0.95821	-3.82;-3.82;-3.82	4.37	4.37	0.52481	.	0.126247	0.52532	D	0.000076	D	0.97414	0.9154	M	0.79693	2.465	0.80722	D	1	D;P;D;D;P	0.69078	0.997;0.952;0.976;0.967;0.952	D;P;P;P;P	0.79108	0.992;0.652;0.652;0.798;0.652	D	0.97610	1.0129	10	0.52906	T	0.07	-22.2057	14.7823	0.69776	0.0:1.0:0.0:0.0	.	136;125;136;136;125	Q56R94;P13805-2;P13805-3;P13805;F5H1H4	.;.;.;TNNT1_HUMAN;.	K	136;125;125;66;151	ENSP00000291901:E136K;ENSP00000349233:E125K;ENSP00000439640:E125K	ENSP00000291901:E136K	E	-	1	0	TNNT1	60341236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.094000	0.76944	2.167000	0.68274	0.484000	0.47621	GAA	TNNT1	-	pfam_Troponin	ENSG00000105048		0.567	TNNT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNNT1	HGNC	protein_coding	OTTHUMT00000451825.2	48	0.00	0	C	NM_003283		55649424	55649424	-1	no_errors	ENST00000588981	ensembl	human	known	69_37n	missense	52	48.51	49	SNP	1.000	T
TNPO3	23534	genome.wustl.edu	37	7	128610208	128610208	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:128610208G>A	ENST00000265388.5	-	20	2735	c.2592C>T	c.(2590-2592)gaC>gaT	p.D864D	TNPO3_ENST00000393245.1_Silent_p.D898D|TNPO3_ENST00000471166.1_Silent_p.D898D|RN7SL306P_ENST00000492941.2_RNA|TNPO3_ENST00000482320.1_Silent_p.D798D|TNPO3_ENST00000471234.1_Silent_p.D800D			Q9Y5L0	TNPO3_HUMAN	transportin 3	864					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTACCGGTCTGTCAACCTGCA	0.483																																					Pancreas(147;583 2585 39696 52331)	dbGAP											0													101.0	100.0	100.0					7																	128610208		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.2592C>T	7.37:g.128610208G>A			A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	p.D898	ENST00000265388.5	37	c.2694	CCDS5809.1	7																																																																																			TNPO3	-	NULL	ENSG00000064419		0.483	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNPO3	HGNC	protein_coding	OTTHUMT00000350929.1	130	0.00	0	G	NM_012470		128610208	128610208	-1	no_errors	ENST00000393245	ensembl	human	known	69_37n	silent	157	20.30	40	SNP	0.996	A
TNRC6B	23112	genome.wustl.edu	37	22	40661003	40661003	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:40661003G>A	ENST00000454349.2	+	5	980	c.769G>A	c.(769-771)Ggg>Agg	p.G257R	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.G257R|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	257	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						ATGTAATCTTGGGGTCTGGAA	0.473																																						dbGAP											0													105.0	103.0	103.0					22																	40661003		1900	4117	6017	-	-	-	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.769G>A	22.37:g.40661003G>A	ENSP00000401946:p.Gly257Arg		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.G257R	ENST00000454349.2	37	c.769	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814600	0.50527	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.59906	0.23;0.23	4.93	4.93	0.64822	.	0.108806	0.64402	D	0.000009	T	0.66036	0.2749	N	0.25485	0.75	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.70502	-0.4854	10	0.66056	D	0.02	-3.9628	17.1571	0.86794	0.0:0.0:1.0:0.0	.	257;257;257	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	R	257	ENSP00000401946:G257R;ENSP00000338371:G257R	ENSP00000338371:G257R	G	+	1	0	TNRC6B	38990949	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.670000	0.74467	2.281000	0.76405	0.650000	0.86243	GGG	TNRC6B	-	NULL	ENSG00000100354		0.473	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		247	0.00	0	G			40661003	40661003	+1	no_errors	ENST00000454349	ensembl	human	known	69_37n	missense	194	17.45	41	SNP	1.000	A
TNS1	7145	genome.wustl.edu	37	2	218713705	218713705	+	Missense_Mutation	SNP	G	G	T	rs77549986		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:218713705G>T	ENST00000171887.4	-	17	1612	c.1160C>A	c.(1159-1161)cCt>cAt	p.P387H	TNS1_ENST00000419504.1_Missense_Mutation_p.P387H|TNS1_ENST00000430930.1_Missense_Mutation_p.P387H|TNS1_ENST00000480665.1_5'UTR	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	387					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CGACAGTGTAGGACGTGTGGC	0.602																																						dbGAP											0													162.0	154.0	156.0					2																	218713705		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1160C>A	2.37:g.218713705G>T	ENSP00000171887:p.Pro387His		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.P387H	ENST00000171887.4	37	c.1160	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	G	3.120	-0.180826	0.06380	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554	D;D;D;D;D	0.95690	-2.97;-2.96;-2.97;-3.44;-3.78	5.06	5.06	0.68205	.	1.011310	0.07904	N	0.973192	D	0.94716	0.8295	L	0.58101	1.795	0.49483	D	0.999793	D;B;B;D;P	0.63880	0.985;0.131;0.083;0.993;0.947	P;B;B;P;P	0.49999	0.628;0.022;0.013;0.628;0.628	D	0.90136	0.4210	10	0.33141	T	0.24	.	6.0452	0.19755	0.2212:0.0:0.7788:0.0	.	387;441;387;387;387	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	H	387;387;387;512;455	ENSP00000171887:P387H;ENSP00000408724:P387H;ENSP00000406016:P387H;ENSP00000405460:P512H;ENSP00000400383:P455H	ENSP00000171887:P387H	P	-	2	0	TNS1	218421950	0.056000	0.20664	0.044000	0.18714	0.077000	0.17291	2.340000	0.43974	2.628000	0.89032	0.655000	0.94253	CCT	TNS1	-	NULL	ENSG00000079308		0.602	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	101	0.00	0	G	NM_022648		218713705	218713705	-1	no_errors	ENST00000171887	ensembl	human	known	69_37n	missense	122	44.39	99	SNP	0.077	T
TNS4	84951	genome.wustl.edu	37	17	38645098	38645098	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:38645098C>T	ENST00000254051.6	-	3	721	c.563G>A	c.(562-564)aGa>aAa	p.R188K		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	188	Ser-rich.				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)			GGGGACGTCTCTGGAAAGGAG	0.667																																						dbGAP											0													47.0	57.0	54.0					17																	38645098		2200	4300	6500	-	-	-	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.563G>A	17.37:g.38645098C>T	ENSP00000254051:p.Arg188Lys		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2	p.R188K	ENST00000254051.6	37	c.563	CCDS11368.1	17	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466321	0.84425	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.20598	2.06	5.24	5.24	0.73138	.	0.000000	0.40640	N	0.001059	T	0.23492	0.0568	L	0.34521	1.04	0.28319	N	0.922341	D	0.56521	0.976	P	0.51615	0.675	T	0.07028	-1.0794	10	0.10111	T	0.7	-20.2281	15.8638	0.79047	0.0:1.0:0.0:0.0	.	188	Q8IZW8	TENS4_HUMAN	K	188	ENSP00000254051:R188K	ENSP00000254051:R188K	R	-	2	0	TNS4	35898624	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.629000	0.37071	2.729000	0.93468	0.563000	0.77884	AGA	TNS4	-	NULL	ENSG00000131746		0.667	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	35	0.00	0	C	NM_032865		38645098	38645098	-1	no_errors	ENST00000254051	ensembl	human	known	69_37n	missense	37	27.45	14	SNP	1.000	T
TP53BP1	7158	genome.wustl.edu	37	15	43712710	43712710	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:43712710C>T	ENST00000263801.3	-	21	4711	c.4459G>A	c.(4459-4461)Gta>Ata	p.V1487I	TP53BP1_ENST00000450115.2_Missense_Mutation_p.V1492I|TP53BP1_ENST00000382039.3_Missense_Mutation_p.V1442I|TP53BP1_ENST00000382044.4_Missense_Mutation_p.V1492I	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1487	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)		CGGAGCCCTACAAAGCTATTT	0.493								Other conserved DNA damage response genes																														dbGAP											0													123.0	123.0	123.0					15																	43712710		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.4459G>A	15.37:g.43712710C>T	ENSP00000263801:p.Val1487Ile		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.V1492I	ENST00000263801.3	37	c.4474	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560250	0.86335	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.55	5.55	0.83447	Tumour suppressor p53-binding protein-1 Tudor (1);	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	N	0.19112	0.55	0.80722	D	1	P;D;D;D	0.54397	0.852;0.966;0.958;0.958	D;D;D;D	0.73708	0.958;0.981;0.968;0.968	T	0.52132	-0.8616	10	0.31617	T	0.26	-10.7572	19.8696	0.96845	0.0:1.0:0.0:0.0	.	1492;1487;1492;1492	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	I	1487;1492;1442;1492	ENSP00000263801:V1487I;ENSP00000371475:V1492I;ENSP00000371470:V1442I;ENSP00000393497:V1492I	ENSP00000263801:V1487I	V	-	1	0	TP53BP1	41500002	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.683000	0.68189	2.773000	0.95371	0.585000	0.79938	GTA	TP53BP1	-	pfam_53-BP1_Tudor	ENSG00000067369		0.493	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	341	0.00	0	C			43712710	43712710	-1	no_errors	ENST00000382044	ensembl	human	known	69_37n	missense	393	11.06	49	SNP	1.000	T
TPCN1	53373	genome.wustl.edu	37	12	113731076	113731076	+	Silent	SNP	A	A	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:113731076A>G	ENST00000335509.6	+	27	2570	c.2256A>G	c.(2254-2256)caA>caG	p.Q752Q	TPCN1_ENST00000392569.4_Silent_p.Q684Q|TPCN1_ENST00000541517.1_Silent_p.Q824Q|TPCN1_ENST00000550785.1_Silent_p.Q824Q|TPCN1_ENST00000546787.1_3'UTR	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	752					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TTCCTTAGCAACATTCCATGG	0.582																																						dbGAP											0													209.0	212.0	211.0					12																	113731076		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.2256A>G	12.37:g.113731076A>G			A7E258|Q86XS9|Q8NC20	Silent	SNP	pfam_Ion_trans_dom	p.Q824	ENST00000335509.6	37	c.2472	CCDS31908.1	12																																																																																			TPCN1	-	NULL	ENSG00000186815		0.582	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	HGNC	protein_coding	OTTHUMT00000405156.3	103	0.00	0	A	NM_017901		113731076	113731076	+1	no_errors	ENST00000541517	ensembl	human	known	69_37n	silent	56	12.31	8	SNP	0.987	G
TPCN1	53373	genome.wustl.edu	37	12	113731078	113731079	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:113731078_113731079insG	ENST00000335509.6	+	27	2572_2573	c.2258_2259insG	c.(2257-2262)cattccfs	p.HS753fs	TPCN1_ENST00000392569.4_Frame_Shift_Ins_p.HS685fs|TPCN1_ENST00000541517.1_Frame_Shift_Ins_p.HS825fs|TPCN1_ENST00000550785.1_Frame_Shift_Ins_p.HS825fs|TPCN1_ENST00000546787.1_3'UTR	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	753					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCTTAGCAACATTCCATGGTGT	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	Exception_encountered	12.37:g.113731078_113731079insG	ENSP00000335300:p.His753fs		A7E258|Q86XS9|Q8NC20	Frame_Shift_Ins	INS	pfam_Ion_trans_dom	p.H825fs	ENST00000335509.6	37	c.2474_2475	CCDS31908.1	12																																																																																			TPCN1	-	NULL	ENSG00000186815		0.584	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	HGNC	protein_coding	OTTHUMT00000405156.3	103	0.00	0	-	NM_017901		113731078	113731079	+1	no_errors	ENST00000541517	ensembl	human	known	69_37n	frame_shift_ins	58	10.77	7	INS	0.001:0.000	G
TRABD2A	129293	genome.wustl.edu	37	2	85051094	85051094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:85051094C>T	ENST00000409520.2	-	6	1359	c.1317G>A	c.(1315-1317)tgG>tgA	p.W439*	TRABD2A_ENST00000335459.5_Nonsense_Mutation_p.W390*|TRABD2A_ENST00000479944.1_5'UTR	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	439					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CCAGGCGGACCCACAGATCGC	0.637																																						dbGAP											0													36.0	42.0	40.0					2																	85051094		2201	4299	6500	-	-	-	SO:0001587	stop_gained	0			BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.1317G>A	2.37:g.85051094C>T	ENSP00000387075:p.Trp439*		B4DKK8|I6UMB9	Nonsense_Mutation	SNP	NULL	p.W439*	ENST00000409520.2	37	c.1317		2	.	.	.	.	.	.	.	.	.	.	c	21.6	4.179044	0.78564	.	.	ENSG00000186854	ENST00000335459;ENST00000409520	.	.	.	3.74	1.8	0.24995	.	0.105458	0.42548	D	0.000683	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.2776	0.10816	0.2256:0.6515:0.0:0.1229	.	.	.	.	X	390;439	.	ENSP00000335004:W390X	W	-	3	0	C2orf89	84904605	1.000000	0.71417	0.987000	0.45799	0.280000	0.26924	1.077000	0.30741	0.344000	0.23847	0.437000	0.28790	TGG	TRABD2A	-	NULL	ENSG00000186854		0.637	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	TRABD2A	HGNC	protein_coding		39	0.00	0	C	NM_001080824		85051094	85051094	-1	no_errors	ENST00000409520	ensembl	human	known	69_37n	nonsense	26	16.13	5	SNP	0.997	T
TRAF1	7185	genome.wustl.edu	37	9	123675773	123675773	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:123675773G>A	ENST00000373887.3	-	5	2983	c.538C>T	c.(538-540)Cac>Tac	p.H180Y	TRAF1_ENST00000546084.1_Missense_Mutation_p.H58Y|TRAF1_ENST00000540010.1_Missense_Mutation_p.H180Y	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	180					apoptotic process (GO:0006915)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein complex assembly (GO:0006461)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TTCATGAAGTGCTGCAGGGCC	0.617																																						dbGAP											0													44.0	40.0	42.0					9																	123675773		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK090468	CCDS6825.1, CCDS55335.1	9q33-q34	2008-02-05			ENSG00000056558	ENSG00000056558			12031	protein-coding gene	gene with protein product		601711				8069916	Standard	NM_001190945		Approved	EBI6	uc010mvl.2	Q13077	OTTHUMG00000020578	ENST00000373887.3:c.538C>T	9.37:g.123675773G>A	ENSP00000362994:p.His180Tyr		B4DJ77|Q658U1|Q8NF13	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH	p.H180Y	ENST00000373887.3	37	c.538	CCDS6825.1	9	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254309	0.39896	.	.	ENSG00000056558	ENST00000373887;ENST00000540010;ENST00000546084	T;T;T	0.44482	1.53;1.53;0.92	5.11	3.01	0.34805	.	0.977188	0.08422	N	0.948211	T	0.33962	0.0881	L	0.44542	1.39	0.32439	N	0.546954	B	0.20550	0.046	B	0.12837	0.008	T	0.35574	-0.9783	10	0.11794	T	0.64	-9.3067	11.0655	0.47972	0.0:0.118:0.7114:0.1706	.	180	Q13077	TRAF1_HUMAN	Y	180;180;58	ENSP00000362994:H180Y;ENSP00000443183:H180Y;ENSP00000438583:H58Y	ENSP00000362994:H180Y	H	-	1	0	TRAF1	122715594	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.722000	0.47269	1.107000	0.41642	0.455000	0.32223	CAC	TRAF1	-	pirsf_TNF_rcpt--assoc_TRAF	ENSG00000056558		0.617	TRAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF1	HGNC	protein_coding	OTTHUMT00000053843.1	33	0.00	0	G	NM_005658		123675773	123675773	-1	no_errors	ENST00000373887	ensembl	human	known	69_37n	missense	67	21.84	19	SNP	1.000	A
TRAM1L1	133022	genome.wustl.edu	37	4	118005598	118005598	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:118005598G>A	ENST00000310754.4	-	1	1138	c.952C>T	c.(952-954)Ctc>Ttc	p.L318F		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	318	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						TGAAGCCAGAGAGTAATTAAG	0.418																																						dbGAP											0													143.0	141.0	142.0					4																	118005598		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.952C>T	4.37:g.118005598G>A	ENSP00000309402:p.Leu318Phe		Q8N2L7	Missense_Mutation	SNP	pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	p.L318F	ENST00000310754.4	37	c.952	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.008127	0.00043	.	.	ENSG00000174599	ENST00000310754	T	0.39592	1.07	3.59	0.901	0.19284	TRAM/LAG1/CLN8 homology domain (2);	0.401401	0.29814	N	0.011131	T	0.08935	0.0221	N	0.00801	-1.175	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29305	-1.0016	10	0.02654	T	1	-26.6683	1.8746	0.03216	0.1801:0.4509:0.2426:0.1263	.	318	Q8N609	TR1L1_HUMAN	F	318	ENSP00000309402:L318F	ENSP00000309402:L318F	L	-	1	0	TRAM1L1	118225046	0.005000	0.15991	0.000000	0.03702	0.007000	0.05969	0.459000	0.21908	0.150000	0.19136	0.650000	0.86243	CTC	TRAM1L1	-	smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom	ENSG00000174599		0.418	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	HGNC	protein_coding	OTTHUMT00000256513.1	233	0.00	0	G	NM_152402		118005598	118005598	-1	no_errors	ENST00000310754	ensembl	human	known	69_37n	missense	202	23.11	61	SNP	0.000	A
TRAPPC10	7109	genome.wustl.edu	37	21	45509781	45509781	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr21:45509781G>A	ENST00000291574.4	+	18	3012	c.2837G>A	c.(2836-2838)aGg>aAg	p.R946K	TRAPPC10_ENST00000483973.1_3'UTR	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	946					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTACCCTTCAGGACCACACAC	0.562																																						dbGAP											0													136.0	91.0	107.0					21																	45509781		2203	4300	6503	-	-	-	SO:0001583	missense	0			U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2837G>A	21.37:g.45509781G>A	ENSP00000291574:p.Arg946Lys		Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Missense_Mutation	SNP	NULL	p.R946K	ENST00000291574.4	37	c.2837	CCDS13704.1	21	.	.	.	.	.	.	.	.	.	.	G	0.201	-1.044428	0.01997	.	.	ENSG00000160218	ENST00000291574;ENST00000542855	T	0.20200	2.09	4.88	1.48	0.22813	.	0.174296	0.51477	D	0.000097	T	0.07188	0.0182	N	0.08118	0	0.33872	D	0.635011	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.39683	-0.9602	10	0.02654	T	1	.	6.6235	0.22816	0.5577:0.0:0.4423:0.0	.	51;205;946	B4DV34;B4DI17;P48553	.;.;TPC10_HUMAN	K	946;77	ENSP00000291574:R946K	ENSP00000291574:R946K	R	+	2	0	TRAPPC10	44334209	1.000000	0.71417	0.994000	0.49952	0.048000	0.14542	2.777000	0.47717	0.401000	0.25424	-0.251000	0.11542	AGG	TRAPPC10	-	NULL	ENSG00000160218		0.562	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRAPPC10	HGNC	protein_coding	OTTHUMT00000195737.1	38	0.00	0	G	NM_003274		45509781	45509781	+1	no_errors	ENST00000291574	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	A
TRAV9-1	28678	genome.wustl.edu	37	14	22279895	22279895	+	RNA	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:22279895C>T	ENST00000390431.3	+	0	84									T cell receptor alpha variable 9-1																		AGACAGAAGGCCAAGTGCTCC	0.438																																						dbGAP											0													55.0	50.0	51.0					14																	22279895		1886	4112	5998	-	-	-			0			AE000659		14q11.2	2012-02-07			ENSG00000211783	ENSG00000211783		"""T cell receptors / TRA locus"""	12153	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000168987		14.37:g.22279895C>T				Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.G28	ENST00000390431.3	37	c.84		14																																																																																			TRAV9-1	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211783		0.438	TRAV9-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRAV9-1	HGNC	TR_V_gene	OTTHUMT00000401885.1	94	0.00	0	C	NG_001332		22279895	22279895	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390431	ensembl	human	known	69_37n	silent	106	11.57	14	SNP	0.945	T
TRIB2	28951	genome.wustl.edu	37	2	12880838	12880838	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:12880838C>T	ENST00000155926.4	+	3	2369	c.950C>T	c.(949-951)tCa>tTa	p.S317L	TRIB2_ENST00000381465.2_Missense_Mutation_p.S181L	NM_021643.3	NP_067675.1			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)					GTCTCGAATTCAGCATATGGT	0.522																																						dbGAP											0													77.0	73.0	74.0					2																	12880838		2203	4300	6503	-	-	-	SO:0001583	missense	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	ENST00000155926.4:c.950C>T	2.37:g.12880838C>T	ENSP00000155926:p.Ser317Leu			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.S317L	ENST00000155926.4	37	c.950	CCDS1683.1	2	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537978	0.45176	.	.	ENSG00000071575	ENST00000155926;ENST00000381465	T;T	0.48522	0.84;0.81	5.94	5.94	0.96194	Protein kinase-like domain (1);	0.057062	0.64402	D	0.000001	T	0.38401	0.1039	N	0.24115	0.695	0.80722	D	1	B	0.16396	0.017	B	0.12156	0.007	T	0.07966	-1.0745	10	0.32370	T	0.25	-7.8437	19.354	0.94404	0.0:1.0:0.0:0.0	.	317	Q92519	TRIB2_HUMAN	L	317;181	ENSP00000155926:S317L;ENSP00000370874:S181L	ENSP00000155926:S317L	S	+	2	0	TRIB2	12798289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.926000	0.56491	2.820000	0.97059	0.650000	0.86243	TCA	TRIB2	-	superfamily_Kinase-like_dom	ENSG00000071575		0.522	TRIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIB2	HGNC	protein_coding	OTTHUMT00000207114.2	100	0.00	0	C	NM_021643		12880838	12880838	+1	no_errors	ENST00000155926	ensembl	human	known	69_37n	missense	98	10.91	12	SNP	1.000	T
TRIM17	51127	genome.wustl.edu	37	1	228601546	228601546	+	Silent	SNP	C	C	T	rs200403051		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:228601546C>T	ENST00000366697.2	-	2	1433	c.477G>A	c.(475-477)agG>agA	p.R159R	TRIM17_ENST00000295033.3_Silent_p.R159R|TRIM17_ENST00000456946.2_Silent_p.R159R|TRIM17_ENST00000366698.2_Silent_p.R159R			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	159					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GATTCCCTGTCCTGGTGATCT	0.602																																						dbGAP											0													147.0	113.0	124.0					1																	228601546		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.477G>A	1.37:g.228601546C>T			B4DVJ2|Q5VST8	Silent	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.R159	ENST00000366697.2	37	c.477	CCDS1571.1	1																																																																																			TRIM17	-	NULL	ENSG00000162931		0.602	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	HGNC	protein_coding	OTTHUMT00000096439.2	34	0.00	0	C	NM_016102		228601546	228601546	-1	no_errors	ENST00000295033	ensembl	human	known	69_37n	silent	29	17.14	6	SNP	0.065	T
TRIM29	23650	genome.wustl.edu	37	11	120008340	120008340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:120008340delC	ENST00000341846.5	-	1	821	c.400delG	c.(400-402)gagfs	p.E134fs		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	134					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TTCCGGGACTCCGAGAAAATG	0.652																																						dbGAP											0													88.0	102.0	98.0					11																	120008340		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.400delG	11.37:g.120008340delC	ENSP00000343129:p.Glu134fs		Q96AA9|Q9BZY7	Frame_Shift_Del	DEL	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	p.E134fs	ENST00000341846.5	37	c.400	CCDS8428.1	11																																																																																			TRIM29	-	NULL	ENSG00000137699		0.652	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM29	HGNC	protein_coding	OTTHUMT00000277108.2	83	0.00	0	C	NM_012101		120008340	120008340	-1	no_errors	ENST00000341846	ensembl	human	known	69_37n	frame_shift_del	54	10.00	6	DEL	0.976	-
TRIM29	23650	genome.wustl.edu	37	11	120008616	120008616	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:120008616T>C	ENST00000341846.5	-	1	545	c.124A>G	c.(124-126)Acc>Gcc	p.T42A		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	42					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCGTTGGTGGTCTTGGCATCC	0.687																																						dbGAP											0													54.0	55.0	55.0					11																	120008616		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.124A>G	11.37:g.120008616T>C	ENSP00000343129:p.Thr42Ala		Q96AA9|Q9BZY7	Missense_Mutation	SNP	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	p.T42A	ENST00000341846.5	37	c.124	CCDS8428.1	11	.	.	.	.	.	.	.	.	.	.	T	9.481	1.098125	0.20552	.	.	ENSG00000137699	ENST00000341846;ENST00000529011;ENST00000529495;ENST00000532833	T	0.37411	1.2	5.37	0.186	0.15105	.	0.673775	0.14430	N	0.320081	T	0.17492	0.0420	N	0.17082	0.46	0.51482	D	0.999924	B	0.02656	0.0	B	0.04013	0.001	T	0.10451	-1.0629	9	.	.	.	.	5.4073	0.16328	0.0:0.2861:0.1436:0.5702	.	42	Q14134	TRI29_HUMAN	A	42	ENSP00000343129:T42A	.	T	-	1	0	TRIM29	119513826	0.647000	0.27304	0.895000	0.35142	0.950000	0.60333	0.968000	0.29357	0.032000	0.15435	0.533000	0.62120	ACC	TRIM29	-	NULL	ENSG00000137699		0.687	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM29	HGNC	protein_coding	OTTHUMT00000277108.2	46	0.00	0	T	NM_012101		120008616	120008616	-1	no_errors	ENST00000341846	ensembl	human	known	69_37n	missense	39	20.41	10	SNP	0.372	C
TRIM39	56658	genome.wustl.edu	37	6	30309911	30309911	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:30309911delT	ENST00000396547.1	+	8	1592	c.1432delT	c.(1432-1434)tctfs	p.S478fs	TRIM39_ENST00000376659.5_Frame_Shift_Del_p.S448fs|TRIM39_ENST00000376656.4_Frame_Shift_Del_p.S478fs|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000540416.1_Frame_Shift_Del_p.S448fs|RPP21_ENST00000433076.2_5'Flank|TRIM39_ENST00000396548.1_Frame_Shift_Del_p.S448fs|TRIM39_ENST00000396551.3_Frame_Shift_Del_p.S448fs			Q9HCM9	TRI39_HUMAN	tripartite motif containing 39	478	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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						CACAGACCGCTCTCATATCTA	0.493																																						dbGAP											0													92.0	88.0	89.0					6																	30309911		1511	2709	4220	-	-	-	SO:0001589	frameshift_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.1432delT	6.37:g.30309911delT	ENSP00000379796:p.Ser478fs		Q5STG3|Q5STG4|Q76BL3|Q8IYT9|Q96IB6	Frame_Shift_Del	DEL	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,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.S478fs	ENST00000396547.1	37	c.1432	CCDS34377.1	6																																																																																			TRIM39	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000204599		0.493	TRIM39-002	KNOWN	basic|CCDS	protein_coding	TRIM39	HGNC	protein_coding	OTTHUMT00000076086.2	121	0.00	0	T	NM_172016		30309911	30309911	+1	no_errors	ENST00000376656	ensembl	human	known	69_37n	frame_shift_del	92	28.68	37	DEL	0.999	-
TRIO	7204	genome.wustl.edu	37	5	14507247	14507247	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:14507247C>T	ENST00000344204.4	+	56	8653	c.8629C>T	c.(8629-8631)Ctc>Ttc	p.L2877F	TRIO_ENST00000344135.5_Missense_Mutation_p.L376F|TRIO_ENST00000537187.1_Missense_Mutation_p.L2701F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2877	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)					CCAGGGTCGCCTCCTGGACTG	0.567																																						dbGAP											0													55.0	53.0	54.0					5																	14507247		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.8629C>T	5.37:g.14507247C>T	ENSP00000339299:p.Leu2877Phe		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.L2877F	ENST00000344204.4	37	c.8629	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695217	0.68386	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	T;T;T	0.73258	-0.73;-0.73;-0.73	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.064981	0.64402	D	0.000004	D	0.84374	0.5458	M	0.86097	2.795	0.27219	N	0.959704	D	0.55605	0.972	D	0.69142	0.962	T	0.79748	-0.1673	10	0.87932	D	0	.	12.9657	0.58483	0.0:0.9261:0.0:0.0739	.	2877	O75962	TRIO_HUMAN	F	2877;2701;376	ENSP00000339299:L2877F;ENSP00000446348:L2701F;ENSP00000339291:L376F	ENSP00000339291:L376F	L	+	1	0	TRIO	14560247	0.998000	0.40836	0.995000	0.50966	0.947000	0.59692	2.558000	0.45879	2.643000	0.89663	0.655000	0.94253	CTC	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		0.567	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	30	0.00	0	C	NM_007118		14507247	14507247	+1	no_errors	ENST00000344204	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	0.985	T
TRPC5	7224	genome.wustl.edu	37	X	111155772	111155772	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:111155772G>A	ENST00000262839.2	-	3	1565	c.647C>T	c.(646-648)cCc>cTc	p.P216L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	216					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						AGTTAGGATGGGGTCCTCACT	0.552																																						dbGAP											0													154.0	143.0	147.0					X																	111155772		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.647C>T	X.37:g.111155772G>A	ENSP00000262839:p.Pro216Leu		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.P216L	ENST00000262839.2	37	c.647	CCDS14561.1	X	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942606	0.92526	.	.	ENSG00000072315	ENST00000262839	D	0.85258	-1.96	5.79	5.79	0.91817	Transient receptor potential II (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96533	0.9394	10	0.87932	D	0	-13.9314	19.0181	0.92902	0.0:0.0:1.0:0.0	.	217;216	Q59G51;Q9UL62	.;TRPC5_HUMAN	L	216	ENSP00000262839:P216L	ENSP00000262839:P216L	P	-	2	0	TRPC5	111042428	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.866000	0.99616	2.440000	0.82611	0.529000	0.55759	CCC	TRPC5	-	pfam_TRP_dom,tigrfam_TRP_channel	ENSG00000072315		0.552	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC5	HGNC	protein_coding	OTTHUMT00000057945.1	245	0.00	0	G	NM_012471		111155772	111155772	-1	no_errors	ENST00000262839	ensembl	human	known	69_37n	missense	252	44.12	199	SNP	1.000	A
TRPM4	54795	genome.wustl.edu	37	19	49674905	49674905	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:49674905G>A	ENST00000252826.5	+	8	1055	c.929G>A	c.(928-930)tGc>tAc	p.C310Y	TRPM4_ENST00000427978.2_Missense_Mutation_p.C310Y|TRPM4_ENST00000601347.1_3'UTR|TRPM4_ENST00000355712.5_Missense_Mutation_p.C27Y	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	310					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCTGCGGACTGCCTGGCGGAG	0.597																																						dbGAP											0													32.0	37.0	35.0					19																	49674905		2202	4299	6501	-	-	-	SO:0001583	missense	0			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.929G>A	19.37:g.49674905G>A	ENSP00000252826:p.Cys310Tyr		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.C310Y	ENST00000252826.5	37	c.929	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410192	0.42715	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	T;T;T	0.60672	1.3;1.3;0.17	5.2	5.2	0.72013	.	0.063338	0.64402	D	0.000004	T	0.70254	0.3203	M	0.62723	1.935	0.27968	N	0.936501	D;D;D;P	0.60575	0.988;0.985;0.985;0.893	P;P;P;B	0.57679	0.795;0.825;0.825;0.243	T	0.67162	-0.5740	10	0.72032	D	0.01	-36.9824	17.8669	0.88797	0.0:0.0:1.0:0.0	.	27;136;310;310	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	Y	310;310;27	ENSP00000252826:C310Y;ENSP00000407492:C310Y;ENSP00000347944:C27Y	ENSP00000252826:C310Y	C	+	2	0	TRPM4	54366717	1.000000	0.71417	1.000000	0.80357	0.385000	0.30292	4.493000	0.60341	2.609000	0.88269	0.591000	0.81541	TGC	TRPM4	-	NULL	ENSG00000130529		0.597	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	47	0.00	0	G	NM_017636		49674905	49674905	+1	no_errors	ENST00000252826	ensembl	human	known	69_37n	missense	57	43.00	43	SNP	1.000	A
TRRAP	8295	genome.wustl.edu	37	7	98495372	98495372	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:98495372C>T	ENST00000359863.4	+	8	725	c.516C>T	c.(514-516)taC>taT	p.Y172Y	TRRAP_ENST00000446306.3_Silent_p.Y172Y|TRRAP_ENST00000355540.3_Silent_p.Y172Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	172					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)			AGAACCGCTACTTTGAGAACC	0.388																																						dbGAP											0													76.0	73.0	74.0					7																	98495372		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.516C>T	7.37:g.98495372C>T			A4D265|O75218|Q9Y631|Q9Y6H4	Silent	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.Y172	ENST00000359863.4	37	c.516	CCDS59066.1	7																																																																																			TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.388	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	174	0.00	0	C	NM_003496		98495372	98495372	+1	no_errors	ENST00000359863	ensembl	human	known	69_37n	silent	200	11.11	25	SNP	1.000	T
TRRAP	8295	genome.wustl.edu	37	7	98540602	98540602	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:98540602G>A	ENST00000359863.4	+	31	4644	c.4435G>A	c.(4435-4437)Gtg>Atg	p.V1479M	TRRAP_ENST00000446306.3_Missense_Mutation_p.V1478M|TRRAP_ENST00000355540.3_Missense_Mutation_p.V1479M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1479					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)			GGAAGTGGTGGTGATCACCCA	0.522																																						dbGAP											0													138.0	113.0	121.0					7																	98540602		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.4435G>A	7.37:g.98540602G>A	ENSP00000352925:p.Val1479Met		A4D265|O75218|Q9Y631|Q9Y6H4	Nonsense_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.W1193*	ENST00000359863.4	37	c.3579	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.9|29.9	5.043139|5.043139	0.93685|0.93685	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.67171|.	-0.25;3.99|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.56934|.	0.2019|.	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D;D;D|.	0.59357|.	0.985;0.96;0.978|.	P;P;P|.	0.57468|.	0.821;0.599;0.753|.	T|.	0.49986|.	-0.8880|.	10|.	0.44086|.	T|.	0.13|.	.|.	19.9392|19.9392	0.97153|0.97153	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1479;1193;1479|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	M|X	1479;1479;1477|1193	ENSP00000352925:V1479M;ENSP00000347733:V1479M|.	ENSP00000347733:V1479M|.	V|W	+|+	1|3	0|0	TRRAP|TRRAP	98378538|98378538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.476000|9.476000	0.97823|0.97823	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	GTG|TGG	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.522	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	47	0.00	0	G	NM_003496		98540602	98540602	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456197	ensembl	human	novel	69_37n	nonsense	28	30.00	12	SNP	1.000	A
TRRAP	8295	genome.wustl.edu	37	7	98555624	98555624	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:98555624G>A	ENST00000359863.4	+	43	6440	c.6231G>A	c.(6229-6231)tcG>tcA	p.S2077S	TRRAP_ENST00000446306.3_Silent_p.S2058S|TRRAP_ENST00000355540.3_Silent_p.S2059S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2077	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)			GGAGCCAGTCGCTACCTGGAG	0.537																																						dbGAP											0													98.0	75.0	83.0					7																	98555624		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.6231G>A	7.37:g.98555624G>A			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.R1799H	ENST00000359863.4	37	c.5396	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	G	5.361	0.251874	0.10185	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.39	-10.8	0.00216	.	.	.	.	.	T	0.41396	0.1157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53301	-0.8458	4	.	.	.	.	5.4655	0.16639	0.1964:0.2769:0.4493:0.0774	.	.	.	.	H	1799	.	.	R	+	2	0	TRRAP	98393560	0.000000	0.05858	0.114000	0.21550	0.736000	0.42039	-2.875000	0.00718	-3.419000	0.00167	-1.916000	0.00518	CGC	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.537	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	25	0.00	0	G	NM_003496		98555624	98555624	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456197	ensembl	human	novel	69_37n	missense	25	79.03	98	SNP	0.044	A
TSKS	60385	genome.wustl.edu	37	19	50251366	50251366	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:50251366C>A	ENST00000246801.3	-	4	637	c.555G>T	c.(553-555)ttG>ttT	p.L185F	TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	185					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGTACCCCTCCAACTCTTCTG	0.567																																						dbGAP											0													198.0	166.0	177.0					19																	50251366		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.555G>T	19.37:g.50251366C>A	ENSP00000246801:p.Leu185Phe		Q8WXJ0	Missense_Mutation	SNP	NULL	p.L185F	ENST00000246801.3	37	c.555	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	20.0	3.929900	0.73327	.	.	ENSG00000126467	ENST00000246801	T	0.50277	0.75	5.6	-2.08	0.07254	.	0.000000	0.42294	D	0.000723	T	0.44644	0.1303	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.48547	-0.9026	10	0.62326	D	0.03	-13.8074	1.8329	0.03134	0.1287:0.4537:0.125:0.2925	.	185	Q9UJT2	TSKS_HUMAN	F	185	ENSP00000246801:L185F	ENSP00000246801:L185F	L	-	3	2	TSKS	54943178	0.990000	0.36364	0.988000	0.46212	0.964000	0.63967	-0.037000	0.12164	-0.146000	0.11274	0.462000	0.41574	TTG	TSKS	-	NULL	ENSG00000126467		0.567	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	92	0.00	0	C	NM_021733		50251366	50251366	-1	no_errors	ENST00000246801	ensembl	human	known	69_37n	missense	46	28.12	18	SNP	0.996	A
TSSK4	283629	genome.wustl.edu	37	14	24675844	24675844	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:24675844G>A	ENST00000287913.6	+	2	523	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000428351.2_Intron|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000339917.5_Missense_Mutation_p.A119T|TSSK4_ENST00000556621.1_Missense_Mutation_p.A43T			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	119	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		GCGCTACGGGGCCTGCTCTGA	0.577																																						dbGAP											0													99.0	88.0	92.0					14																	24675844		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"""chromosome 14 open reading frame 20"""	610711	"""serine/threonine kinase 22E"""	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.355G>A	14.37:g.24675844G>A	ENSP00000287913:p.Ala119Thr		Q2TA60|Q6ZNM2	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.A119T	ENST00000287913.6	37	c.355	CCDS9618.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.31|16.31	3.086454|3.086454	0.55861|0.55861	.|.	.|.	ENSG00000139908|ENSG00000139908	ENST00000339917;ENST00000556621;ENST00000287913|ENST00000555092	T;T;T|T	0.23950|0.09630	1.88;1.88;1.88|2.96	5.07|5.07	5.07|5.07	0.68467|0.68467	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|.	0.50627|.	D|.	0.000114|.	T|T	0.09818|0.09818	0.0241|0.0241	N|N	0.11698|0.11698	0.16|0.16	0.80722|0.80722	D|D	1|1	P;P|.	0.37423|.	0.539;0.594|.	B;P|.	0.45167|.	0.341;0.472|.	T|T	0.43798|0.43798	-0.9369|-0.9369	10|6	0.72032|.	D|.	0.01|.	.|.	15.467|15.467	0.75409|0.75409	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	119;119|.	Q6SA08-2;Q6SA08|.	.;TSSK4_HUMAN|.	T|D	119;43;119|113	ENSP00000339179:A119T;ENSP00000452054:A43T;ENSP00000287913:A119T|ENSP00000451121:G113D	ENSP00000287913:A119T|.	A|G	+|+	1|2	0|0	TSSK4|TSSK4	23745684|23745684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	1.555000|1.555000	0.36277|0.36277	2.639000|2.639000	0.89480|0.89480	0.462000|0.462000	0.41574|0.41574	GCC|GGC	TSSK4	-	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	ENSG00000139908		0.577	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TSSK4	HGNC	protein_coding	OTTHUMT00000073139.3	111	0.00	0	G	NM_174944		24675844	24675844	+1	no_errors	ENST00000339917	ensembl	human	known	69_37n	missense	145	12.65	21	SNP	1.000	A
TTC3	7267	genome.wustl.edu	37	21	38572589	38572589	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr21:38572589G>A	ENST00000399017.2	+	45	8654	c.5907G>A	c.(5905-5907)gtG>gtA	p.V1969V	TTC3_ENST00000354749.2_Silent_p.V1969V|TTC3_ENST00000355666.1_Silent_p.V1969V|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1969					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAAAAAACGTGCGTGTGCTCA	0.413																																					Ovarian(38;194 1649 35661)	dbGAP											0													88.0	77.0	81.0					21																	38572589		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5907G>A	21.37:g.38572589G>A			A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A261T	ENST00000399017.2	37	c.781	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	9.401	1.078042	0.20227	.	.	ENSG00000182670	ENST00000428693	.	.	.	5.58	-0.201	0.13212	.	.	.	.	.	T	0.21267	0.0512	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24404	-1.0161	4	.	.	.	-1.4936	2.4759	0.04575	0.1621:0.2654:0.4365:0.1359	.	.	.	.	T	261	.	.	A	+	1	0	TTC3	37494459	0.002000	0.14202	0.019000	0.16419	0.969000	0.65631	-0.412000	0.07132	0.280000	0.22209	0.655000	0.94253	GCG	TTC3	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000182670		0.413	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	HGNC	protein_coding	OTTHUMT00000194776.1	83	0.00	0	G			38572589	38572589	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000428693	ensembl	human	putative	69_37n	missense	32	36.00	18	SNP	0.002	A
TTC30B	150737	genome.wustl.edu	37	2	178416909	178416909	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:178416909C>T	ENST00000408939.3	-	1	833	c.583G>A	c.(583-585)Gct>Act	p.A195T		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	195					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TAGGCCAAAGCCAGGTTGTAG	0.542																																						dbGAP											0													70.0	77.0	74.0					2																	178416909		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055552	CCDS42784.1	2q31.2	2014-02-21			ENSG00000196659	ENSG00000196659		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	26425	protein-coding gene	gene with protein product						12477932	Standard	NM_152517		Approved	FLJ30990, fleer, IFT70	uc002uln.3	Q8N4P2	OTTHUMG00000154166	ENST00000408939.3:c.583G>A	2.37:g.178416909C>T	ENSP00000386181:p.Ala195Thr		Q63HQ1|Q96NE6	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.A195T	ENST00000408939.3	37	c.583	CCDS42784.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306175	0.81247	.	.	ENSG00000196659	ENST00000500357;ENST00000408939	T	0.78595	-1.19	4.51	4.51	0.55191	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.87474	0.6186	M	0.81614	2.55	0.80722	D	1	D	0.64830	0.994	D	0.63033	0.91	D	0.89420	0.3709	10	0.72032	D	0.01	.	17.3546	0.87332	0.0:1.0:0.0:0.0	.	195	Q8N4P2	TT30B_HUMAN	T	148;195	ENSP00000386181:A195T	ENSP00000386181:A195T	A	-	1	0	TTC30B	178125155	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.549000	0.82163	2.487000	0.83934	0.655000	0.94253	GCT	TTC30B	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000196659		0.542	TTC30B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30B	HGNC	protein_coding	OTTHUMT00000334193.2	122	0.00	0	C	NM_152517		178416909	178416909	-1	no_errors	ENST00000408939	ensembl	human	known	69_37n	missense	138	17.26	29	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179418386	179418387	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:179418386_179418387delAG	ENST00000591111.1	-	284	84646_84647	c.84422_84423delCT	c.(84421-84423)actfs	p.T28142fs	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.T20843fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.T20718fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.T29783fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.T27215fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.T20910fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28142	Fibronectin type-III 105. {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)			TAGAGACAGTAGTCCATTCCTC	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_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.84422_84423delCT	2.37:g.179418386_179418387delAG	ENSP00000465570:p.Thr28142fs		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	Frame_Shift_Del	DEL	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.T27214fs	ENST00000591111.1	37	c.81642_81641		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.470	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	228	0.00	0	AG	NM_133378		179418386	179418387	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	frame_shift_del	118	15.60	22	DEL	0.241:0.976	-
TTN	7273	genome.wustl.edu	37	2	179418394	179418394	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:179418394delC	ENST00000591111.1	-	284	84639	c.84415delG	c.(84415-84417)gaafs	p.E28139fs	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.E20840fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.E20715fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.E29780fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.E27212fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.E20907fs|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28139	Fibronectin type-III 105. {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)			GTAGTCCATTCCTCTTCCTCT	0.473																																						dbGAP											0													106.0	102.0	103.0					2																	179418394		1990	4170	6160	-	-	-	SO:0001589	frameshift_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.84415delG	2.37:g.179418394delC	ENSP00000465570:p.Glu28139fs		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	Frame_Shift_Del	DEL	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.E27212fs	ENST00000591111.1	37	c.81634		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	219	0.00	0	C	NM_133378		179418394	179418394	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	frame_shift_del	113	15.04	20	DEL	1.000	-
TTN	7273	genome.wustl.edu	37	2	179418395	179418395	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:179418395C>A	ENST00000591111.1	-	284	84638	c.84414G>T	c.(84412-84414)gaG>gaT	p.E28138D	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20839D|TTN_ENST00000460472.2_Missense_Mutation_p.E20714D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E29779D|TTN_ENST00000342992.6_Missense_Mutation_p.E27211D|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20906D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28138	Fibronectin type-III 105. {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)			TAGTCCATTCCTCTTCCTCTC	0.478																																						dbGAP											0													105.0	101.0	102.0					2																	179418395		1991	4168	6159	-	-	-	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.84414G>T	2.37:g.179418395C>A	ENSP00000465570:p.Glu28138Asp		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.E27211D	ENST00000591111.1	37	c.81633		2	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880201	0.51801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.6	2.3	0.28687	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38295	0.1035	N	0.21583	0.68	0.34599	D	0.716337	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.003;0.003;0.003;0.003	T	0.35943	-0.9768	9	0.87932	D	0	.	3.8763	0.09058	0.1602:0.4104:0.0:0.4295	.	20714;20839;20906;28138	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	27211;20714;20906;20839;20711	ENSP00000343764:E27211D;ENSP00000434586:E20714D;ENSP00000340554:E20906D;ENSP00000352154:E20839D	ENSP00000340554:E20906D	E	-	3	2	TTN	179126641	0.991000	0.36638	1.000000	0.80357	0.839000	0.47603	0.248000	0.18198	0.217000	0.20800	0.650000	0.86243	GAG	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	224	0.00	0	C	NM_133378		179418395	179418395	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	121	14.18	20	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179441423	179441423	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:179441423C>T	ENST00000591111.1	-	275	64849	c.64625G>A	c.(64624-64626)aGc>aAc	p.S21542N	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S14243N|TTN_ENST00000460472.2_Missense_Mutation_p.S14118N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S23183N|TTN_ENST00000342992.6_Missense_Mutation_p.S20615N|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S14310N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21542	Fibronectin type-III 56. {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)			CCATCGCAGGCTTTTCTTTTC	0.463																																						dbGAP											0													225.0	215.0	218.0					2																	179441423		1917	4135	6052	-	-	-	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.64625G>A	2.37:g.179441423C>T	ENSP00000465570:p.Ser21542Asn		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.S20615N	ENST00000591111.1	37	c.61844		2	.	.	.	.	.	.	.	.	.	.	C	13.54	2.267840	0.40095	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.72	4.84	0.62591	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49847	0.1581	L	0.39147	1.195	0.24052	N	0.996049	B;B;B;B	0.25048	0.117;0.117;0.117;0.117	B;B;B;B	0.27076	0.041;0.041;0.076;0.076	T	0.50816	-0.8783	9	0.87932	D	0	.	17.2875	0.87146	0.0:0.8748:0.1252:0.0	.	14118;14243;14310;21542	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	20615;14118;14310;14243;14116	ENSP00000343764:S20615N;ENSP00000434586:S14118N;ENSP00000340554:S14310N;ENSP00000352154:S14243N	ENSP00000340554:S14310N	S	-	2	0	TTN	179149669	1.000000	0.71417	0.156000	0.22583	0.978000	0.69477	7.776000	0.85560	1.536000	0.49237	0.655000	0.94253	AGC	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	378	0.00	0	C	NM_133378		179441423	179441423	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	243	32.87	119	SNP	0.984	T
TTN	7273	genome.wustl.edu	37	2	179478803	179478803	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:179478803G>A	ENST00000591111.1	-	212	44622	c.44398C>T	c.(44398-44400)Cca>Tca	p.P14800S	TTN_ENST00000359218.5_Missense_Mutation_p.P7501S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7376S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P16441S|TTN_ENST00000342992.6_Missense_Mutation_p.P13873S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7568S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	14800	Fibronectin type-III 6. {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)			GCTGTTATTGGAGAGGCCTGA	0.363																																						dbGAP											0													125.0	115.0	118.0					2																	179478803		1861	4110	5971	-	-	-	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.44398C>T	2.37:g.179478803G>A	ENSP00000465570:p.Pro14800Ser		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.P13873S	ENST00000591111.1	37	c.41617		2	.	.	.	.	.	.	.	.	.	.	G	12.57	1.977225	0.34848	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	6.07	6.07	0.98685	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39655	0.1086	N	0.20881	0.62	0.44579	D	0.997547	B;B;B;B	0.28350	0.208;0.208;0.208;0.208	B;B;B;B	0.20384	0.029;0.029;0.029;0.029	T	0.31503	-0.9941	9	0.87932	D	0	.	13.8057	0.63230	0.0695:0.0:0.9305:0.0	.	7376;7501;7568;14800	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	13873;7376;7568;7501;7376	ENSP00000343764:P13873S;ENSP00000434586:P7376S;ENSP00000340554:P7568S;ENSP00000352154:P7501S	ENSP00000340554:P7568S	P	-	1	0	TTN	179187048	1.000000	0.71417	0.988000	0.46212	0.934000	0.57294	3.469000	0.53093	2.885000	0.99019	0.655000	0.94253	CCA	TTN	-	superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3	ENSG00000155657		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	175	0.00	0	G	NM_133378		179478803	179478803	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	114	21.38	31	SNP	0.990	A
TTN	7273	genome.wustl.edu	37	2	179654086	179654086	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:179654086C>T	ENST00000591111.1	-	13	2301		c.e13+1		TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN_ENST00000360870.5_Splice_Site|TTN_ENST00000589042.1_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Splice_Site			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)			ACAATAGTCACCTTTCCATGG	0.343																																						dbGAP											0													194.0	190.0	191.0					2																	179654086		2203	4300	6503	-	-	-	SO:0001630	splice_region_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.2076+1G>A	2.37:g.179654086C>T			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	Splice_Site	SNP	-	e12+1	ENST00000591111.1	37	c.2076+1		2	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405757	0.62288	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	.	.	.	5.9	5.9	0.94986	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2269	0.48888	0.0:0.8755:0.0:0.1245	.	.	.	.	.	-1	.	.	.	-	.	.	TTN	179362331	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.007000	0.49536	2.808000	0.96608	0.650000	0.86243	.	TTN	-	-	ENSG00000155657		0.343	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	181	0.00	0	C	NM_133378	Intron	179654086	179654086	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	splice_site	112	11.11	14	SNP	1.000	T
TTLL4	9654	genome.wustl.edu	37	2	219611889	219611889	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:219611889G>A	ENST00000392102.1	+	9	2478	c.2138G>A	c.(2137-2139)aGc>aAc	p.S713N	TTLL4_ENST00000457313.1_Missense_Mutation_p.S548N|TTLL4_ENST00000258398.4_Missense_Mutation_p.S713N|TTLL4_ENST00000442769.1_Intron	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	713	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				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)		TGGGAGAGCAGCAGCCGCCAA	0.547																																					GBM(172;1818 2053 15407 20943 49753)	dbGAP											0													56.0	61.0	59.0					2																	219611889		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.2138G>A	2.37:g.219611889G>A	ENSP00000375951:p.Ser713Asn		A8K6V5|Q8WW29	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S713N	ENST00000392102.1	37	c.2138	CCDS2422.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.58|14.58	2.577566|2.577566	0.45902|0.45902	.|.	.|.	ENSG00000135912|ENSG00000135912	ENST00000448224|ENST00000457313;ENST00000392102;ENST00000258398	.|T;T;T	.|0.07688	.|3.17;3.17;3.17	5.91|5.91	4.13|4.13	0.48395|0.48395	.|.	.|0.803958	.|0.12239	.|N	.|0.486703	T|T	0.04227|0.04227	0.0117|0.0117	N|N	0.03253|0.03253	-0.375|-0.375	0.31167|0.31167	N|N	0.703625|0.703625	.|B;B	.|0.12630	.|0.003;0.006	.|B;B	.|0.17098	.|0.017;0.014	T|T	0.31613|0.31613	-0.9937|-0.9937	5|10	.|0.15499	.|T	.|0.54	.|.	11.7968|11.7968	0.52104|0.52104	0.1403:0.0:0.8597:0.0|0.1403:0.0:0.8597:0.0	.|.	.|548;713	.|E9PH58;Q14679	.|.;TTLL4_HUMAN	T|N	45|548;713;713	.|ENSP00000393332:S548N;ENSP00000375951:S713N;ENSP00000258398:S713N	.|ENSP00000258398:S713N	A|S	+|+	1|2	0|0	TTLL4|TTLL4	219320133|219320133	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.974000|0.974000	0.67602|0.67602	4.444000|4.444000	0.60001|0.60001	0.846000|0.846000	0.35142|0.35142	0.655000|0.655000	0.94253|0.94253	GCA|AGC	TTLL4	-	pfam_Tub_tyr_ligase	ENSG00000135912		0.547	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL4	HGNC	protein_coding	OTTHUMT00000256726.1	114	0.00	0	G	NM_014640		219611889	219611889	+1	no_errors	ENST00000258398	ensembl	human	known	69_37n	missense	107	20.00	27	SNP	1.000	A
TYRO3	7301	genome.wustl.edu	37	15	41863285	41863285	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:41863285C>T	ENST00000263798.3	+	13	1853	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S	TYRO3_ENST00000559066.1_Silent_p.S498S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	543	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGATGGCTCCTTTGTGAAAG	0.557																																						dbGAP											0													175.0	167.0	170.0					15																	41863285		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1629C>T	15.37:g.41863285C>T			O14953|Q86VR3	Missense_Mutation	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.L25F	ENST00000263798.3	37	c.73	CCDS10080.1	15																																																																																			TYRO3	-	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	ENSG00000092445		0.557	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	HGNC	protein_coding	OTTHUMT00000252693.2	120	0.00	0	C			41863285	41863285	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000568343	ensembl	human	novel	69_37n	missense	120	26.83	44	SNP	1.000	T
UBASH3B	84959	genome.wustl.edu	37	11	122659956	122659956	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:122659956G>A	ENST00000284273.5	+	6	1295	c.920G>A	c.(919-921)gGa>gAa	p.G307E		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	307	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				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)		GGCTGCTCTGGACTCCTGCCT	0.507																																						dbGAP											0													147.0	142.0	144.0					11																	122659956		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.920G>A	11.37:g.122659956G>A	ENSP00000284273:p.Gly307Glu		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.G307E	ENST00000284273.5	37	c.920	CCDS31694.1	11	.	.	.	.	.	.	.	.	.	.	G	30	5.050948	0.93740	.	.	ENSG00000154127	ENST00000284273	T	0.78364	-1.17	5.86	5.86	0.93980	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95379	0.8471	10	0.87932	D	0	-5.1287	20.1931	0.98233	0.0:0.0:1.0:0.0	.	307	Q8TF42	UBS3B_HUMAN	E	307	ENSP00000284273:G307E	ENSP00000284273:G307E	G	+	2	0	UBASH3B	122165166	1.000000	0.71417	0.186000	0.23195	0.945000	0.59286	7.529000	0.81952	2.771000	0.95319	0.563000	0.77884	GGA	UBASH3B	-	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000154127		0.507	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBASH3B	HGNC	protein_coding	OTTHUMT00000387499.1	185	0.00	0	G	NM_032873		122659956	122659956	+1	no_errors	ENST00000284273	ensembl	human	known	69_37n	missense	284	20.67	74	SNP	1.000	A
UBR4	23352	genome.wustl.edu	37	1	19443822	19443822	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:19443822G>A	ENST00000375254.3	-	73	10743	c.10716C>T	c.(10714-10716)agC>agT	p.S3572S	UBR4_ENST00000375218.3_5'UTR|UBR4_ENST00000375267.2_Silent_p.S3572S|UBR4_ENST00000375226.2_Silent_p.S3548S|UBR4_ENST00000375217.2_Silent_p.S3565S	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3572					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)		CTGTCACTTTGCTGATGGTGT	0.483																																						dbGAP											0													200.0	166.0	177.0					1																	19443822		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.10716C>T	1.37:g.19443822G>A			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.S3572	ENST00000375254.3	37	c.10716	CCDS189.1	1																																																																																			UBR4	-	NULL	ENSG00000127481		0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	155	0.00	0	G	NM_020765		19443822	19443822	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	silent	77	16.30	15	SNP	1.000	A
UBR4	23352	genome.wustl.edu	37	1	19483404	19483404	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:19483404G>A	ENST00000375254.3	-	41	5803	c.5776C>T	c.(5776-5778)Ctc>Ttc	p.L1926F	UBR4_ENST00000375267.2_Missense_Mutation_p.L1926F|UBR4_ENST00000375226.2_Missense_Mutation_p.L1926F|UBR4_ENST00000375217.2_Missense_Mutation_p.L1926F	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1926					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)		AGTGCAGAGAGCTGCAGAACG	0.463																																						dbGAP											0													57.0	50.0	52.0					1																	19483404		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.5776C>T	1.37:g.19483404G>A	ENSP00000364403:p.Leu1926Phe		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.L1926F	ENST00000375254.3	37	c.5776	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584120	0.86748	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;3.02	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	T	0.46190	0.1380	L	0.59436	1.845	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.19778	-1.0295	10	0.59425	D	0.04	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	1926	Q5T4S7	UBR4_HUMAN	F	1926;1926;1926;1926;636;1142	ENSP00000364403:L1926F;ENSP00000364416:L1926F;ENSP00000364365:L1926F;ENSP00000364374:L1926F;ENSP00000404897:L636F	ENSP00000364365:L1926F	L	-	1	0	UBR4	19355991	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.213000	0.65230	2.777000	0.95525	0.591000	0.81541	CTC	UBR4	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold	ENSG00000127481		0.463	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	141	0.00	0	G	NM_020765		19483404	19483404	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	107	18.32	24	SNP	1.000	A
UBR4	23352	genome.wustl.edu	37	1	19499380	19499380	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:19499380C>T	ENST00000375254.3	-	25	3526	c.3499G>A	c.(3499-3501)Gac>Aac	p.D1167N	UBR4_ENST00000375267.2_Missense_Mutation_p.D1167N|UBR4_ENST00000375226.2_Missense_Mutation_p.D1167N|UBR4_ENST00000375217.2_Missense_Mutation_p.D1167N	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1167					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)		GCATAGGTGTCAATGAGTTGC	0.493																																						dbGAP											0													89.0	81.0	84.0					1																	19499380		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.3499G>A	1.37:g.19499380C>T	ENSP00000364403:p.Asp1167Asn		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.D1167N	ENST00000375254.3	37	c.3499	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168724	0.78339	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000419533	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.62029	-0.6940	10	0.49607	T	0.09	.	19.9882	0.97356	0.0:1.0:0.0:0.0	.	1167	Q5T4S7	UBR4_HUMAN	N	1167;1167;1167;1167;383	ENSP00000364403:D1167N;ENSP00000364416:D1167N;ENSP00000364365:D1167N;ENSP00000364374:D1167N	ENSP00000364365:D1167N	D	-	1	0	UBR4	19371967	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	GAC	UBR4	-	NULL	ENSG00000127481		0.493	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	156	0.00	0	C	NM_020765		19499380	19499380	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	105	18.46	24	SNP	1.000	T
UBR4	23352	genome.wustl.edu	37	1	19524307	19524308	+	Splice_Site	DEL	TA	TA	-			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	TA	TA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:19524307_19524308delTA	ENST00000375254.3	-	7	779		c.e7-2		UBR4_ENST00000375267.2_Splice_Site|UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375217.2_Splice_Site	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						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)		CCGAGCCACCTAAATGAATGAA	0.406																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_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.752-2TA>-	1.37:g.19524307_19524308delTA			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Splice_Site	DEL	-	e7-2	ENST00000375254.3	37	c.752-3_752-2	CCDS189.1	1																																																																																			UBR4	-	-	ENSG00000127481		0.406	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	203	0.00	0	TA	NM_020765	Intron	19524307	19524308	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	splice_site_del	192	10.60	23	DEL	1.000:0.633	-
UBR5	51366	genome.wustl.edu	37	8	103324594	103324594	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:103324594C>T	ENST00000520539.1	-	17	2733	c.2127G>A	c.(2125-2127)agG>agA	p.R709R	UBR5_ENST00000220959.4_Silent_p.R709R|UBR5_ENST00000521922.1_Silent_p.R703R	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	709					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)			TTCTAAGTAACCTACAATCCT	0.398																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													79.0	73.0	75.0					8																	103324594		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2127G>A	8.37:g.103324594C>T			B2RP24|J3KMW7|O94970|Q9NPL3	Silent	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.R709	ENST00000520539.1	37	c.2127	CCDS34933.1	8																																																																																			UBR5	-	NULL	ENSG00000104517		0.398	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	127	0.78	1	C	NM_015902		103324594	103324594	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	silent	75	17.58	16	SNP	0.995	T
UBR5	51366	genome.wustl.edu	37	8	103324645	103324645	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:103324645C>T	ENST00000520539.1	-	17	2682	c.2076G>A	c.(2074-2076)caG>caA	p.Q692Q	UBR5_ENST00000220959.4_Silent_p.Q692Q|UBR5_ENST00000521922.1_Silent_p.Q686Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	692					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)			CAGAGCTGTTCTGACAGTTAG	0.403																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											0													108.0	102.0	104.0					8																	103324645		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2076G>A	8.37:g.103324645C>T			B2RP24|J3KMW7|O94970|Q9NPL3	Silent	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.Q692	ENST00000520539.1	37	c.2076	CCDS34933.1	8																																																																																			UBR5	-	NULL	ENSG00000104517		0.403	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	130	0.00	0	C	NM_015902		103324645	103324645	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	silent	76	15.56	14	SNP	1.000	T
ULBP2	80328	genome.wustl.edu	37	6	150267618	150267618	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:150267618G>A	ENST00000367351.3	+	3	533	c.460G>A	c.(460-462)Gag>Aag	p.E154K		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	154	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)	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)		CTTTGACTCAGAGAAGAGAAT	0.478																																						dbGAP											0													236.0	213.0	221.0					6																	150267618		2203	4300	6503	-	-	-	SO:0001583	missense	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.460G>A	6.37:g.150267618G>A	ENSP00000356320:p.Glu154Lys		Q5VUN4	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.E154K	ENST00000367351.3	37	c.460	CCDS5222.1	6	.	.	.	.	.	.	.	.	.	.	-	10.99	1.507449	0.27036	.	.	ENSG00000131015	ENST00000367351	T	0.59083	0.29	2.26	-0.0566	0.13805	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	0.23492	0.0568	N	0.25957	0.775	0.09310	N	1	B;P	0.37370	0.418;0.592	B;B	0.40329	0.206;0.326	T	0.17684	-1.0361	9	0.87932	D	0	.	4.5116	0.11914	0.4399:0.0:0.5601:0.0	.	154;154	B4DSS7;Q9BZM5	.;N2DL2_HUMAN	K	154	ENSP00000356320:E154K	ENSP00000356320:E154K	E	+	1	0	ULBP2	150309311	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	0.042000	0.13949	-0.162000	0.10964	0.184000	0.17185	GAG	ULBP2	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000131015		0.478	ULBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULBP2	HGNC	protein_coding	OTTHUMT00000042669.1	227	0.00	0	G			150267618	150267618	+1	no_errors	ENST00000367351	ensembl	human	known	69_37n	missense	94	24.19	30	SNP	0.002	A
UQCRC2	7385	genome.wustl.edu	37	16	21983441	21983441	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:21983441G>A	ENST00000268379.4	+	10	1728	c.964G>A	c.(964-966)Gat>Aat	p.D322N	UQCRC2_ENST00000561553.1_Missense_Mutation_p.D322N	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	322					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)		GCAGCCATTTGATGTGAGTCT	0.448																																					Colon(123;450 1645 12841 25393 45623)	dbGAP											0													45.0	34.0	38.0					16																	21983441		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.964G>A	16.37:g.21983441G>A	ENSP00000268379:p.Asp322Asn		B3KSN4|Q9BQ05	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.D322N	ENST00000268379.4	37	c.964	CCDS10601.1	16	.	.	.	.	.	.	.	.	.	.	G	23.3	4.393763	0.83011	.	.	ENSG00000140740	ENST00000268379	T	0.09538	2.97	4.67	4.67	0.58626	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.68728	2.09	0.80722	D	1	D	0.64830	0.994	D	0.68039	0.955	T	0.01397	-1.1365	10	0.41790	T	0.15	-25.3363	16.548	0.84454	0.0:0.0:1.0:0.0	.	322	P22695	QCR2_HUMAN	N	322	ENSP00000268379:D322N	ENSP00000268379:D322N	D	+	1	0	UQCRC2	21890942	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	9.230000	0.95299	2.309000	0.77851	0.655000	0.94253	GAT	UQCRC2	-	pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	ENSG00000140740		0.448	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	62	0.00	0	G	NM_003366		21983441	21983441	+1	no_errors	ENST00000268379	ensembl	human	known	69_37n	missense	59	20.27	15	SNP	1.000	A
URB2	9816	genome.wustl.edu	37	1	229771271	229771271	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:229771271T>C	ENST00000258243.2	+	4	1047	c.911T>C	c.(910-912)gTg>gCg	p.V304A		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	304						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCCAACTCAGTGGCCTTGCTG	0.493																																						dbGAP											0													71.0	71.0	71.0					1																	229771271		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.911T>C	1.37:g.229771271T>C	ENSP00000258243:p.Val304Ala		Q5VYC9	Missense_Mutation	SNP	pfam_Urb2/Npa2_C	p.V304A	ENST00000258243.2	37	c.911	CCDS31052.1	1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.145244	0.57044	.	.	ENSG00000135763	ENST00000258243	T	0.37584	1.19	5.43	5.43	0.79202	.	0.222663	0.40469	N	0.001093	T	0.48519	0.1504	M	0.62723	1.935	0.47584	D	0.999464	D	0.60575	0.988	P	0.52343	0.696	T	0.46148	-0.9212	9	.	.	.	-19.0123	15.7845	0.78291	0.0:0.0:0.0:1.0	.	304	Q14146	URB2_HUMAN	A	304	ENSP00000258243:V304A	.	V	+	2	0	URB2	227837894	0.999000	0.42202	0.611000	0.29010	0.341000	0.28922	3.877000	0.56123	2.192000	0.70111	0.528000	0.53228	GTG	URB2	-	NULL	ENSG00000135763		0.493	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB2	HGNC	protein_coding	OTTHUMT00000095232.1	60	0.00	0	T	NM_014777		229771271	229771271	+1	no_errors	ENST00000258243	ensembl	human	known	69_37n	missense	41	30.51	18	SNP	0.973	C
USH1C	10083	genome.wustl.edu	37	11	17530962	17530962	+	Intron	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:17530962G>A	ENST00000318024.4	-	16	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000005226.7_Missense_Mutation_p.H652Y|USH1C_ENST00000527720.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TTCCCACTGTGGTTCTTTGCC	0.582																																						dbGAP											0													89.0	78.0	82.0					11																	17530962		2200	4293	6493	-	-	-	SO:0001627	intron_variant	0			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7435C>T	11.37:g.17530962G>A			A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H652Y	ENST00000318024.4	37	c.1954	CCDS31438.1	11	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886262	0.33348	.	.	ENSG00000006611	ENST00000005226	T	0.38401	1.14	5.9	4.89	0.63831	.	0.891618	0.09977	N	0.731536	T	0.15262	0.0368	.	.	.	0.23192	N	0.998146	B	0.02656	0.0	B	0.01281	0.0	T	0.37056	-0.9722	9	0.06494	T	0.89	.	5.7477	0.18130	0.1877:0.0:0.8123:0.0	.	652	Q7RTU8	.	Y	652	ENSP00000005226:H652Y	ENSP00000005226:H652Y	H	-	1	0	USH1C	17487538	1.000000	0.71417	0.994000	0.49952	0.860000	0.49131	3.883000	0.56168	2.810000	0.96702	0.585000	0.79938	CAC	USH1C	-	NULL	ENSG00000006611		0.582	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	33	0.00	0	G	NM_005709		17530962	17530962	-1	no_errors	ENST00000005226	ensembl	human	known	69_37n	missense	19	44.12	15	SNP	0.967	A
USP22	23326	genome.wustl.edu	37	17	20921316	20921316	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:20921316C>T	ENST00000261497.4	-	5	832	c.629G>A	c.(628-630)cGc>cAc	p.R210H	USP22_ENST00000537526.2_Missense_Mutation_p.R198H|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	210	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CATCTCACAGCGGTGCCTGTC	0.557																																						dbGAP											0													100.0	108.0	105.0					17																	20921316		2060	4209	6269	-	-	-	SO:0001583	missense	0			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.629G>A	17.37:g.20921316C>T	ENSP00000261497:p.Arg210His		A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R210H	ENST00000261497.4	37	c.629	CCDS42285.1	17	.	.	.	.	.	.	.	.	.	.	c	13.05	2.121613	0.37436	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.30714	1.52;1.52	4.22	1.98	0.26296	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.235055	0.35495	N	0.003166	T	0.17662	0.0424	L	0.31664	0.95	0.34270	D	0.680907	B;B	0.15141	0.012;0.003	B;B	0.10450	0.003;0.005	T	0.17410	-1.0370	10	0.21540	T	0.41	.	5.7091	0.17925	0.0:0.2889:0.0:0.7111	.	198;210	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	H	278;198;210	ENSP00000440950:R198H;ENSP00000261497:R210H	ENSP00000261497:R210H	R	-	2	0	USP22	20861908	1.000000	0.71417	0.822000	0.32727	0.993000	0.82548	3.447000	0.52936	0.202000	0.20498	0.563000	0.77884	CGC	USP22	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000124422		0.557	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	USP22	HGNC	protein_coding	OTTHUMT00000444169.1	74	0.00	0	C			20921316	20921316	-1	no_errors	ENST00000261497	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	0.997	T
USP22	23326	genome.wustl.edu	37	17	20921322	20921322	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:20921322C>T	ENST00000261497.4	-	5	826	c.623G>A	c.(622-624)aGg>aAg	p.R208K	USP22_ENST00000537526.2_Missense_Mutation_p.R196K|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	208	USP.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ACAGCGGTGCCTGTCAGACAG	0.567																																						dbGAP											0													107.0	115.0	112.0					17																	20921322		2077	4224	6301	-	-	-	SO:0001583	missense	0			AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.623G>A	17.37:g.20921322C>T	ENSP00000261497:p.Arg208Lys		A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.R208K	ENST00000261497.4	37	c.623	CCDS42285.1	17	.	.	.	.	.	.	.	.	.	.	c	17.58	3.424209	0.62733	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	T;T	0.28255	1.62;1.62	4.22	4.22	0.49857	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	N	0.04669	-0.19	0.58432	D	0.999997	B;B	0.22909	0.077;0.008	B;B	0.24006	0.03;0.05	T	0.08006	-1.0743	10	0.11182	T	0.66	.	16.9222	0.86166	0.0:1.0:0.0:0.0	.	196;208	Q9UPT9-2;Q9UPT9	.;UBP22_HUMAN	K	276;196;208	ENSP00000440950:R196K;ENSP00000261497:R208K	ENSP00000261497:R208K	R	-	2	0	USP22	20861914	1.000000	0.71417	0.962000	0.40283	0.993000	0.82548	6.976000	0.76135	2.054000	0.61138	0.563000	0.77884	AGG	USP22	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000124422		0.567	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	USP22	HGNC	protein_coding	OTTHUMT00000444169.1	78	0.00	0	C			20921322	20921322	-1	no_errors	ENST00000261497	ensembl	human	known	69_37n	missense	46	17.54	10	SNP	1.000	T
UTP11L	51118	genome.wustl.edu	37	1	38484813	38484813	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:38484813C>T	ENST00000373014.4	+	5	486	c.425C>T	c.(424-426)aCc>aTc	p.T142I	UTP11L_ENST00000537711.1_Missense_Mutation_p.T142I|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein (yeast)	142					nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleolus (GO:0005730)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTTTTTGACACCAAAAAGGAA	0.418																																						dbGAP											0													108.0	108.0	108.0					1																	38484813		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151852	CCDS429.1	1p34.3	2014-03-06	2014-03-06		ENSG00000183520	ENSG00000183520			24329	protein-coding gene	gene with protein product		609440				11860508, 10810093	Standard	NM_016037		Approved	CGI-94	uc001ccn.4	Q9Y3A2	OTTHUMG00000004435	ENST00000373014.4:c.425C>T	1.37:g.38484813C>T	ENSP00000362105:p.Thr142Ile		A8K785|B4DJC6|D3DPT7|Q5VT93|Q9BS98|Q9NS31	Missense_Mutation	SNP	pfam_SSU_processome_Utp11,pirsf_SSU_processome_Utp11	p.T142I	ENST00000373014.4	37	c.425	CCDS429.1	1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680805	0.68042	.	.	ENSG00000183520	ENST00000373014;ENST00000537711	.	.	.	5.64	4.72	0.59763	.	0.150076	0.64402	D	0.000016	T	0.74390	0.3710	M	0.75777	2.31	0.53005	D	0.999965	D	0.58970	0.984	P	0.57679	0.825	T	0.76658	-0.2878	8	.	.	.	-12.2361	15.0047	0.71501	0.0:0.73:0.2699:0.0	.	142	Q9Y3A2	UTP11_HUMAN	I	142	.	.	T	+	2	0	UTP11L	38257400	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.576000	0.53878	1.507000	0.48752	0.650000	0.86243	ACC	UTP11L	-	pfam_SSU_processome_Utp11,pirsf_SSU_processome_Utp11	ENSG00000183520		0.418	UTP11L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP11L	HGNC	protein_coding	OTTHUMT00000012962.1	105	0.00	0	C	NM_016037		38484813	38484813	+1	no_errors	ENST00000373014	ensembl	human	known	69_37n	missense	181	15.02	32	SNP	1.000	T
VAV1	7409	genome.wustl.edu	37	19	6833624	6833624	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:6833624C>T	ENST00000602142.1	+	17	1778	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	VAV1_ENST00000596764.1_Nonsense_Mutation_p.R534*|VAV1_ENST00000539284.1_Nonsense_Mutation_p.R469*|VAV1_ENST00000304076.2_Nonsense_Mutation_p.R566*|VAV1_ENST00000599806.1_Nonsense_Mutation_p.R511*	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	566					apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TCCATGTGGCCGACATGGGCA	0.577																																						dbGAP											0													143.0	126.0	132.0					19																	6833624		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1696C>T	19.37:g.6833624C>T	ENSP00000472929:p.Arg566*		B4DVK9|M0QXX6|Q15860	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.R566*	ENST00000602142.1	37	c.1696	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941449	0.92526	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	.	.	.	4.73	3.62	0.41486	.	0.221523	0.33772	N	0.004578	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.339	0.38067	0.2137:0.7863:0.0:0.0	.	.	.	.	X	566;469	.	ENSP00000302269:R566X	R	+	1	2	VAV1	6784624	1.000000	0.71417	0.787000	0.31911	0.287000	0.27160	3.001000	0.49488	2.199000	0.70637	0.491000	0.48974	CGA	VAV1	-	NULL	ENSG00000141968		0.577	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	127	0.00	0	C			6833624	6833624	+1	no_errors	ENST00000304076	ensembl	human	known	69_37n	nonsense	91	14.95	16	SNP	0.677	T
VCAM1	7412	genome.wustl.edu	37	1	101198114	101198114	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:101198114C>T	ENST00000294728.2	+	7	1767	c.1666C>T	c.(1666-1668)Cag>Tag	p.Q556*	VCAM1_ENST00000370119.4_Nonsense_Mutation_p.Q494*|VCAM1_ENST00000370115.1_Nonsense_Mutation_p.Q357*|VCAM1_ENST00000347652.2_Nonsense_Mutation_p.Q464*	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	556	Ig-like C2-type 6.				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)	CGGGGAGCTACAGCCTCTTTC	0.473																																						dbGAP											0													43.0	47.0	46.0					1																	101198114		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.1666C>T	1.37:g.101198114C>T	ENSP00000294728:p.Gln556*		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Nonsense_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.Q556*	ENST00000294728.2	37	c.1666	CCDS773.1	1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839504	0.71488	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	.	.	.	5.57	2.49	0.30216	.	0.539932	0.20968	N	0.082447	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	-5.5939	9.0441	0.36336	0.0:0.6388:0.283:0.0782	.	.	.	.	X	494;464;556;357	.	ENSP00000294728:Q556X	Q	+	1	0	VCAM1	100970702	0.001000	0.12720	0.796000	0.32109	0.134000	0.20937	0.078000	0.14761	1.478000	0.48253	0.655000	0.94253	CAG	VCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000162692		0.473	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCAM1	HGNC	protein_coding	OTTHUMT00000030213.1	151	0.00	0	C	NM_001078		101198114	101198114	+1	no_errors	ENST00000294728	ensembl	human	known	69_37n	nonsense	106	13.82	17	SNP	0.247	T
VIT	5212	genome.wustl.edu	37	2	37035731	37035731	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:37035731C>A	ENST00000389975.3	+	14	1763	c.1461C>A	c.(1459-1461)agC>agA	p.S487R	VIT_ENST00000379242.3_Missense_Mutation_p.S502R|VIT_ENST00000379241.3_Missense_Mutation_p.S465R|VIT_ENST00000401530.1_Missense_Mutation_p.S466R|VIT_ENST00000497382.1_Missense_Mutation_p.S156R|VIT_ENST00000404084.1_Missense_Mutation_p.S439R	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	487					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGGCCTGCAGCAAGACCTGCT	0.617																																						dbGAP											0													65.0	61.0	62.0					2																	37035731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1461C>A	2.37:g.37035731C>A	ENSP00000374625:p.Ser487Arg		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.S502R	ENST00000389975.3	37	c.1506	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667277	0.47677	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.26	4.39	0.52855	.	0.076518	0.85682	N	0.000000	D	0.84151	0.5409	L	0.52206	1.635	0.54753	D	0.999981	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.79108	0.968;0.992;0.945;0.986	D	0.84809	0.0789	10	0.54805	T	0.06	-25.3212	14.1467	0.65355	0.0:0.9278:0.0:0.0722	.	466;465;487;502	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	R	502;487;156;439;465;466	ENSP00000368544:S502R;ENSP00000374625:S487R;ENSP00000417874:S156R;ENSP00000384154:S439R;ENSP00000368543:S465R;ENSP00000385658:S466R	ENSP00000368543:S465R	S	+	3	2	VIT	36889235	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	4.079000	0.57613	1.236000	0.43740	-0.226000	0.12346	AGC	VIT	-	NULL	ENSG00000205221		0.617	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		56	0.00	0	C			37035731	37035731	+1	no_errors	ENST00000379242	ensembl	human	known	69_37n	missense	76	17.39	16	SNP	1.000	A
VIL1	7429	genome.wustl.edu	37	2	219313999	219313999	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:219313999C>T	ENST00000248444.5	+	20	2512	c.2424C>T	c.(2422-2424)gcC>gcT	p.A808A	VIL1_ENST00000392114.2_Silent_p.A497A	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	808	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.|Headpiece.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCAGCTGCCTTCTCTGCTC	0.468																																						dbGAP											0													221.0	222.0	222.0					2																	219313999		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.2424C>T	2.37:g.219313999C>T			B2R9A7|Q53S11|Q96AC8	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.A808	ENST00000248444.5	37	c.2424	CCDS2417.1	2																																																																																			VIL1	-	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	ENSG00000127831		0.468	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIL1	HGNC	protein_coding	OTTHUMT00000256778.3	405	0.00	0	C	NM_007127		219313999	219313999	+1	no_errors	ENST00000248444	ensembl	human	known	69_37n	silent	336	10.88	41	SNP	0.985	T
VPS13B	157680	genome.wustl.edu	37	8	100791056	100791056	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:100791056C>T	ENST00000358544.2	+	42	7762	c.7651C>T	c.(7651-7653)Caa>Taa	p.Q2551*	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.Q2526*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2551					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)			GTTCTTAGCTCAAGCAGACTG	0.433																																					Colon(161;2205 2542 7338 31318)	dbGAP											0													121.0	113.0	115.0					8																	100791056		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.7651C>T	8.37:g.100791056C>T	ENSP00000351346:p.Gln2551*		C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.Q2551*	ENST00000358544.2	37	c.7651	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	47	13.445147	0.99742	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	.	.	.	5.55	4.67	0.58626	.	0.346769	0.29838	N	0.011066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	10.7758	0.46348	0.1376:0.5963:0.266:0.0	.	.	.	.	X	2526;2551	.	ENSP00000349685:Q2526X	Q	+	1	0	VPS13B	100860232	0.854000	0.29725	0.961000	0.40146	0.993000	0.82548	0.992000	0.29667	1.334000	0.45468	0.655000	0.94253	CAA	VPS13B	-	NULL	ENSG00000132549		0.433	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	188	0.00	0	C	NM_184042		100791056	100791056	+1	no_errors	ENST00000358544	ensembl	human	known	69_37n	nonsense	129	11.64	17	SNP	0.968	T
VPS13D	55187	genome.wustl.edu	37	1	12428566	12428566	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:12428566C>T	ENST00000358136.3	+	53	10622	c.10492C>T	c.(10492-10494)Ctc>Ttc	p.L3498F	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.L3473F	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)		GGAAATTACTCTCCGAGGAGC	0.438																																						dbGAP											0													163.0	151.0	155.0					1																	12428566		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.10492C>T	1.37:g.12428566C>T	ENSP00000350854:p.Leu3498Phe			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.L3498F	ENST00000358136.3	37	c.10492	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875232	0.91664	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.35973	1.28;1.28	6.04	6.04	0.98038	Vacuolar protein sorting-associated protein (1);	0.060190	0.64402	D	0.000002	T	0.60077	0.2241	M	0.64170	1.965	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.987	T	0.52155	-0.8613	10	0.40728	T	0.16	.	20.25	0.98402	0.0:1.0:0.0:0.0	.	3473;3497	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	F	3473;3498	ENSP00000348666:L3473F;ENSP00000350854:L3498F	ENSP00000348666:L3473F	L	+	1	0	VPS13D	12351153	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.726000	0.68515	2.881000	0.98747	0.650000	0.86243	CTC	VPS13D	-	pfam_VPSAP	ENSG00000048707		0.438	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	208	0.00	0	C	NM_015378		12428566	12428566	+1	no_errors	ENST00000358136	ensembl	human	known	69_37n	missense	145	22.04	41	SNP	1.000	T
VPS37A	137492	genome.wustl.edu	37	8	17142113	17142113	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:17142113G>A	ENST00000324849.4	+	10	1775	c.1101G>A	c.(1099-1101)atG>atA	p.M367I	VPS37A_ENST00000521829.1_Missense_Mutation_p.M342I	NM_001145152.1|NM_152415.2	NP_001138624.1|NP_689628.2	Q8NEZ2	VP37A_HUMAN	vacuolar protein sorting 37 homolog A (S. cerevisiae)	367	VPS37 C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00646}.				cell death (GO:0008219)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		GTAGCTTCATGGAAAAGAGAA	0.378																																						dbGAP											0													98.0	98.0	98.0					8																	17142113		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6001.1, CCDS47811.1	8p22	2012-06-29	2006-04-04		ENSG00000155975	ENSG00000155975			24928	protein-coding gene	gene with protein product	"""hepatocellular carcinoma related protein 1"""	609927	"""vacuolar protein sorting 37A (yeast)"", ""polyglutamine binding protein 2"""	PQBP2		15240819, 15218037, 22717650	Standard	NM_152415		Approved	FLJ32642, HCRP1, SPG53	uc003wxj.3	Q8NEZ2	OTTHUMG00000130785	ENST00000324849.4:c.1101G>A	8.37:g.17142113G>A	ENSP00000318629:p.Met367Ile		Q336D5|Q6NW27|Q8N3D7|Q8TBL7|Q96DL9	Missense_Mutation	SNP	pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD	p.M367I	ENST00000324849.4	37	c.1101	CCDS6001.1	8	.	.	.	.	.	.	.	.	.	.	G	14.81	2.648023	0.47258	.	.	ENSG00000155975	ENST00000324849;ENST00000521829;ENST00000521976	T;T;T	0.76186	-1.0;-1.0;-1.0	5.31	5.31	0.75309	Modifier of rudimentary, Modr (2);	0.037366	0.85682	D	0.000000	T	0.70587	0.3241	L	0.36672	1.1	0.80722	D	1	B;B;P	0.36438	0.005;0.019;0.553	B;B;B	0.42188	0.023;0.031;0.379	T	0.63945	-0.6522	10	0.13470	T	0.59	-6.5131	19.8617	0.96787	0.0:0.0:1.0:0.0	.	138;342;367	B3KW95;Q8NEZ2-2;Q8NEZ2	.;.;VP37A_HUMAN	I	367;342;140	ENSP00000318629:M367I;ENSP00000429680:M342I;ENSP00000429858:M140I	ENSP00000318629:M367I	M	+	3	0	VPS37A	17186484	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.854000	0.98071	0.655000	0.94253	ATG	VPS37A	-	pfam_Mod_r	ENSG00000155975		0.378	VPS37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37A	HGNC	protein_coding	OTTHUMT00000253301.2	204	0.00	0	G	NM_152415		17142113	17142113	+1	no_errors	ENST00000324849	ensembl	human	known	69_37n	missense	123	28.90	50	SNP	1.000	A
VTN	7448	genome.wustl.edu	37	17	26696627	26696627	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:26696627G>A	ENST00000226218.4	-	3	1048	c.430C>T	c.(430-432)Cca>Tca	p.P144S	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000457710.3_5'Flank|SARM1_ENST00000379061.4_Intron|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000438614.1_5'Flank|TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	144					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	GGTCTCCCTGGATGAAGGGTC	0.612																																						dbGAP											0													38.0	39.0	39.0					17																	26696627		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.430C>T	17.37:g.26696627G>A	ENSP00000226218:p.Pro144Ser		B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.P144S	ENST00000226218.4	37	c.430	CCDS11229.1	17	.	.	.	.	.	.	.	.	.	.	G	6.211	0.407094	0.11754	.	.	ENSG00000255604	ENST00000226218	T	0.05081	3.5	5.19	-2.25	0.06888	.	1.614640	0.03091	N	0.159740	T	0.03095	0.0091	N	0.24115	0.695	0.09310	N	1	P	0.38922	0.651	B	0.25140	0.058	T	0.34950	-0.9808	10	0.30854	T	0.27	4.0505	0.8939	0.01260	0.2053:0.2015:0.3299:0.2634	.	144	P04004	VTNC_HUMAN	S	144	ENSP00000226218:P144S	ENSP00000226218:P144S	P	-	1	0	AC002094.1	23720754	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.287000	0.02785	-0.098000	0.12285	-0.136000	0.14681	CCA	VTN	-	NULL	ENSG00000255604		0.612	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTN	HGNC	protein_coding	OTTHUMT00000255680.2	29	0.00	0	G	NM_000638		26696627	26696627	-1	no_errors	ENST00000226218	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	0.000	A
VWA8	23078	genome.wustl.edu	37	13	42442577	42442577	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr13:42442577G>A	ENST00000379310.3	-	10	1185	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S	VWA8_ENST00000281496.6_Missense_Mutation_p.P373S	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	373						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										ATCTCTTTAGGAAGTAGAGAG	0.363																																						dbGAP											0													102.0	93.0	96.0					13																	42442577		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.1117C>T	13.37:g.42442577G>A	ENSP00000368612:p.Pro373Ser		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.P373S	ENST00000379310.3	37	c.1117	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756702	0.31137	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496;ENST00000398857	T;T	0.11930	2.97;2.73	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000001	T	0.12987	0.0315	L	0.48877	1.53	0.58432	D	0.999994	B	0.21606	0.058	B	0.24269	0.052	T	0.07252	-1.0782	10	0.12766	T	0.61	.	13.0948	0.59187	0.078:0.0:0.922:0.0	.	373	A3KMH1	K0564_HUMAN	S	277;373;373;373	ENSP00000368612:P373S;ENSP00000281496:P373S	ENSP00000251030:P277S	P	-	1	0	KIAA0564	41340577	1.000000	0.71417	0.999000	0.59377	0.551000	0.35334	5.331000	0.65905	2.475000	0.83589	0.557000	0.71058	CCT	VWA8	-	NULL	ENSG00000102763		0.363	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	235	0.00	0	G	NM_015058		42442577	42442577	-1	no_errors	ENST00000379310	ensembl	human	known	69_37n	missense	134	14.10	22	SNP	0.981	A
VWCE	220001	genome.wustl.edu	37	11	61026322	61026322	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:61026322G>A	ENST00000335613.5	-	20	3079	c.2693C>T	c.(2692-2694)gCt>gTt	p.A898V	VWCE_ENST00000535710.1_Missense_Mutation_p.A363V	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	898						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AAGTGCTGAAGCTTCCGTCAG	0.637																																						dbGAP											0													49.0	54.0	52.0					11																	61026322		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.2693C>T	11.37:g.61026322G>A	ENSP00000334186:p.Ala898Val		A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	pfam_VWF_C,pfam_EGF-like_Ca-bd,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C	p.A898V	ENST00000335613.5	37	c.2693	CCDS8002.1	11	.	.	.	.	.	.	.	.	.	.	G	15.83	2.950203	0.53186	.	.	ENSG00000167992	ENST00000335613;ENST00000535710	T;T	0.71698	-0.59;3.23	4.72	3.8	0.43715	.	0.382752	0.19184	N	0.120603	T	0.61085	0.2319	L	0.43923	1.385	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.56878	-0.7906	10	0.72032	D	0.01	.	9.1056	0.36696	0.1029:0.0:0.8971:0.0	.	898	Q96DN2	VWCE_HUMAN	V	898;363	ENSP00000334186:A898V;ENSP00000442570:A363V	ENSP00000334186:A898V	A	-	2	0	VWCE	60782898	0.031000	0.19500	0.002000	0.10522	0.119000	0.20118	2.706000	0.47135	1.091000	0.41335	0.655000	0.94253	GCT	VWCE	-	NULL	ENSG00000167992		0.637	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWCE	HGNC	protein_coding	OTTHUMT00000398811.1	17	0.00	0	G	NM_152718		61026322	61026322	-1	no_errors	ENST00000335613	ensembl	human	known	69_37n	missense	36	47.06	32	SNP	0.003	A
WDFY1	57590	genome.wustl.edu	37	2	224746709	224746709	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:224746709C>T	ENST00000233055.4	-	10	1116	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	338						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GGACTTGGAACTCGAAGCCCA	0.493																																						dbGAP											0													212.0	218.0	216.0					2																	224746709		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.1014G>A	2.37:g.224746709C>T			Q53S17|Q9H9D5|Q9P2B3	Silent	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E338	ENST00000233055.4	37	c.1014	CCDS33387.1	2																																																																																			WDFY1	-	pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	ENSG00000085449		0.493	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY1	HGNC	protein_coding	OTTHUMT00000330908.1	365	0.00	0	C	NM_020830		224746709	224746709	-1	no_errors	ENST00000233055	ensembl	human	known	69_37n	silent	390	18.03	86	SNP	1.000	T
WDHD1	11169	genome.wustl.edu	37	14	55429869	55429869	+	Missense_Mutation	SNP	C	C	T	rs144673163		TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:55429869C>T	ENST00000360586.3	-	19	2397	c.2332G>A	c.(2332-2334)Gaa>Aaa	p.E778K	WDHD1_ENST00000421192.1_Missense_Mutation_p.E655K|WDHD1_ENST00000359167.4_Missense_Mutation_p.E296K|WDHD1_ENST00000420358.2_Missense_Mutation_p.E655K	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	778					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CAACGGAATTCTCGCTCCAGT	0.383																																						dbGAP											0													45.0	46.0	46.0					14																	55429869		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.2332G>A	14.37:g.55429869C>T	ENSP00000353793:p.Glu778Lys		C9JW18|F6W0U7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF3639,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_superfamily,smart_WD40_repeat,smart_HMG_superfamily,pfscan_HMG_superfamily,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E778K	ENST00000360586.3	37	c.2332	CCDS9721.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.108892	0.94292	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.64260	0.27;0.74;-0.09	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.79221	0.4409	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.982	T	0.75701	-0.3226	10	0.10377	T	0.69	.	18.8498	0.92224	0.0:1.0:0.0:0.0	.	296;778	F8W7P7;O75717	.;WDHD1_HUMAN	K	778;296;655	ENSP00000353793:E778K;ENSP00000352085:E296K;ENSP00000391049:E655K	ENSP00000352085:E296K	E	-	1	0	WDHD1	54499619	1.000000	0.71417	0.998000	0.56505	0.896000	0.52359	7.202000	0.77856	2.466000	0.83321	0.462000	0.41574	GAA	WDHD1	-	NULL	ENSG00000198554		0.383	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDHD1	HGNC	protein_coding	OTTHUMT00000276897.2	64	0.00	0	C	NM_007086		55429869	55429869	-1	no_errors	ENST00000360586	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	1.000	T
WDR25	79446	genome.wustl.edu	37	14	100847475	100847475	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr14:100847475G>A	ENST00000335290.6	+	2	440	c.214G>A	c.(214-216)Gac>Aac	p.D72N	WDR25_ENST00000554998.1_Missense_Mutation_p.D72N|WDR25_ENST00000554175.1_Missense_Mutation_p.D72N|WDR25_ENST00000402312.3_Missense_Mutation_p.D72N|WDR25_ENST00000542471.2_5'Flank	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	72								p.D72N(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTCCTGTGAAGACCCAGGGGG	0.597																																						dbGAP											1	Substitution - Missense(1)	lung(1)											47.0	46.0	47.0					14																	100847475		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.214G>A	14.37:g.100847475G>A	ENSP00000334148:p.Asp72Asn		A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D72N	ENST00000335290.6	37	c.214	CCDS32157.1	14	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730384	0.48939	.	.	ENSG00000176473	ENST00000554998;ENST00000402312;ENST00000335290;ENST00000554175	T;T;T;T	0.63580	-0.05;-0.05;-0.05;2.03	5.53	2.41	0.29592	.	1.136460	0.06513	N	0.738326	T	0.53318	0.1789	M	0.61703	1.905	0.09310	N	1	B	0.33694	0.421	B	0.25140	0.058	T	0.40079	-0.9582	10	0.29301	T	0.29	-8.152	4.9467	0.13993	0.087:0.1383:0.6152:0.1595	.	72	Q64LD2	WDR25_HUMAN	N	72	ENSP00000450661:D72N;ENSP00000385540:D72N;ENSP00000334148:D72N;ENSP00000450727:D72N	ENSP00000334148:D72N	D	+	1	0	WDR25	99917228	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.378000	0.20569	0.720000	0.32209	-0.121000	0.15023	GAC	WDR25	-	NULL	ENSG00000176473		0.597	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WDR25	HGNC	protein_coding	OTTHUMT00000414312.1	52	0.00	0	G	NM_024515		100847475	100847475	+1	no_errors	ENST00000335290	ensembl	human	known	69_37n	missense	93	54.41	111	SNP	0.000	A
WDR6	11180	genome.wustl.edu	37	3	49049058	49049058	+	Intron	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:49049058C>T	ENST00000608424.1	+	2	139				WDR6_ENST00000489684.1_Intron|WDR6_ENST00000395474.3_Intron|WDR6_ENST00000448293.1_Intron|WDR6_ENST00000415265.2_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6						cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGCTCTTTGCCTCTATCTAGG	0.517																																						dbGAP											0													204.0	202.0	203.0					3																	49049058		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.101-10C>T	3.37:g.49049058C>T			B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	NULL	p.L5F	ENST00000608424.1	37	c.13		3	.	.	.	.	.	.	.	.	.	.	c	14.44	2.536312	0.45176	.	.	ENSG00000178252	ENST00000419837	.	.	.	5.28	-0.613	0.11594	.	.	.	.	.	T	0.58652	0.2137	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59182	-0.7502	5	0.72032	D	0.01	.	5.549	0.17079	0.0:0.471:0.1409:0.3882	.	.	.	.	F	5	.	ENSP00000390740:L5F	L	+	1	0	WDR6	49024062	0.904000	0.30761	0.998000	0.56505	0.153000	0.21895	0.237000	0.17985	0.182000	0.20032	-0.376000	0.06991	CTC	WDR6	-	NULL	ENSG00000178252		0.517	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	104	0.00	0	C			49049058	49049058	+1	no_stop_codon	ENST00000419837	ensembl	human	putative	69_37n	missense	79	33.61	40	SNP	0.958	T
WDR62	284403	genome.wustl.edu	37	19	36577707	36577707	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:36577707G>A	ENST00000270301.7	+	13	1761	c.1761G>A	c.(1759-1761)aaG>aaA	p.K587K	WDR62_ENST00000401500.2_Silent_p.K587K			O43379	WDR62_HUMAN	WD repeat domain 62	587					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGCCATCAAGTTCGCTGGTG	0.522																																						dbGAP											0													91.0	50.0	64.0					19																	36577707		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.1761G>A	19.37:g.36577707G>A			Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K587	ENST00000270301.7	37	c.1761	CCDS33001.1	19																																																																																			WDR62	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000075702		0.522	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	26	0.00	0	G	NM_015671		36577707	36577707	+1	no_errors	ENST00000401500	ensembl	human	known	69_37n	silent	35	27.08	13	SNP	1.000	A
WDR62	284403	genome.wustl.edu	37	19	36590458	36590458	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:36590458G>A	ENST00000270301.7	+	22	2678	c.2678G>A	c.(2677-2679)aGt>aAt	p.S893N	WDR62_ENST00000401500.2_Missense_Mutation_p.S893N			O43379	WDR62_HUMAN	WD repeat domain 62	893					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGCCCGAGAGTCTGGAGAAC	0.637																																						dbGAP											0													76.0	74.0	75.0					19																	36590458		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2678G>A	19.37:g.36590458G>A	ENSP00000270301:p.Ser893Asn		Q63HP9|Q659D7|Q8NBF7|Q96AD9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S893N	ENST00000270301.7	37	c.2678	CCDS33001.1	19	.	.	.	.	.	.	.	.	.	.	G	3.786	-0.044653	0.07452	.	.	ENSG00000075702	ENST00000401500;ENST00000270301	T;T	0.30448	1.53;1.53	5.41	-1.84	0.07809	.	0.445903	0.19711	N	0.107815	T	0.15565	0.0375	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.10042	-1.0647	10	0.29301	T	0.29	-3.9966	0.8719	0.01216	0.3913:0.1461:0.2963:0.1663	.	893;893	O43379-4;O43379	.;WDR62_HUMAN	N	893	ENSP00000384792:S893N;ENSP00000270301:S893N	ENSP00000270301:S893N	S	+	2	0	WDR62	41282298	0.000000	0.05858	0.050000	0.19076	0.173000	0.22820	0.051000	0.14141	0.072000	0.16694	-0.794000	0.03295	AGT	WDR62	-	NULL	ENSG00000075702		0.637	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR62	HGNC	protein_coding	OTTHUMT00000457436.1	78	0.00	0	G	NM_015671		36590458	36590458	+1	no_errors	ENST00000401500	ensembl	human	known	69_37n	missense	72	13.25	11	SNP	0.003	A
WNT8B	7479	genome.wustl.edu	37	10	102239669	102239669	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr10:102239669C>T	ENST00000343737.5	+	3	269	c.141C>T	c.(139-141)gcC>gcT	p.A47A		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	47					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CAGCTGGTGCCCAGAGTGGTA	0.527																																						dbGAP											0													107.0	106.0	106.0					10																	102239669		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.141C>T	10.37:g.102239669C>T			O00771|Q5VX55|Q8WYK9	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.A47	ENST00000343737.5	37	c.141	CCDS7494.1	10																																																																																			WNT8B	-	pfam_Wnt,smart_Wnt	ENSG00000075290		0.527	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8B	HGNC	protein_coding	OTTHUMT00000049867.1	134	0.00	0	C	NM_003393		102239669	102239669	+1	no_errors	ENST00000343737	ensembl	human	known	69_37n	silent	141	10.76	17	SNP	0.997	T
WRAP53	55135	genome.wustl.edu	37	17	7606399	7606399	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:7606399C>T	ENST00000316024.5	+	9	3705	c.1357C>T	c.(1357-1359)Ccc>Tcc	p.P453S	EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000396463.2_Missense_Mutation_p.P453S|WRAP53_ENST00000431639.2_Missense_Mutation_p.P453S|WRAP53_ENST00000457584.2_Missense_Mutation_p.P453S|WRAP53_ENST00000534050.1_Missense_Mutation_p.P420S			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	453					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)	p.P453S(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GAAGCCGGAGCCCGTGTTGAG	0.602																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											52.0	52.0	52.0					17																	7606399		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1357C>T	17.37:g.7606399C>T	ENSP00000324203:p.Pro453Ser		B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P453S	ENST00000316024.5	37	c.1357	CCDS11119.1	17	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650328	0.29336	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.78	2.76	0.32466	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.197034	0.43747	N	0.000527	T	0.63885	0.2549	M	0.69185	2.1	0.38953	D	0.958387	P;D	0.53312	0.826;0.959	B;P	0.47744	0.241;0.556	T	0.61749	-0.6999	10	0.22109	T	0.4	-0.8131	7.3935	0.26923	0.0:0.7416:0.0:0.2584	.	420;453	E9PMG4;Q9BUR4	.;WAP53_HUMAN	S	453;453;453;453;420	ENSP00000397219:P453S;ENSP00000324203:P453S;ENSP00000411061:P453S;ENSP00000379727:P453S;ENSP00000434999:P420S	ENSP00000324203:P453S	P	+	1	0	WRAP53	7547124	0.963000	0.33076	0.325000	0.25375	0.013000	0.08279	2.092000	0.41700	0.824000	0.34613	-1.058000	0.02302	CCC	WRAP53	-	superfamily_WD40_repeat_dom	ENSG00000141499		0.602	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	HGNC	protein_coding	OTTHUMT00000259385.2	34	0.00	0	C	NM_018081		7606399	7606399	+1	no_errors	ENST00000316024	ensembl	human	known	69_37n	missense	23	28.12	9	SNP	0.864	T
WSCD2	9671	genome.wustl.edu	37	12	108634215	108634215	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr12:108634215C>T	ENST00000332082.4	+	9	2057	c.1239C>T	c.(1237-1239)gcC>gcT	p.A413A	WSCD2_ENST00000547525.1_Silent_p.A413A|WSCD2_ENST00000549903.1_Silent_p.A413A|WSCD2_ENST00000261400.3_Silent_p.A413A			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	413						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CCTTCGACGCCGCCATCCTGC	0.607																																						dbGAP											0													108.0	118.0	114.0					12																	108634215		2045	4198	6243	-	-	-	SO:0001819	synonymous_variant	0				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1239C>T	12.37:g.108634215C>T			B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.A413	ENST00000332082.4	37	c.1239	CCDS41828.1	12																																																																																			WSCD2	-	NULL	ENSG00000075035		0.607	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	96	0.00	0	C	NM_014653		108634215	108634215	+1	no_errors	ENST00000261400	ensembl	human	known	69_37n	silent	149	11.83	20	SNP	0.005	T
WWC3	55841	genome.wustl.edu	37	X	10085170	10085170	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:10085170T>G	ENST00000380861.4	+	11	1462	c.1071T>G	c.(1069-1071)tgT>tgG	p.C357W	WWC3_ENST00000454666.1_Missense_Mutation_p.C357W	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	357	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCAGCCTGTGTGCCAGCACCC	0.667																																						dbGAP											0													29.0	34.0	32.0					X																	10085170		2198	4282	6480	-	-	-	SO:0001583	missense	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1071T>G	X.37:g.10085170T>G	ENSP00000370242:p.Cys357Trp		A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.C357W	ENST00000380861.4	37	c.1071	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307754	0.60305	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543293;ENST00000398613	T;T	0.44482	0.92;0.92	5.53	-1.98	0.07480	.	0.268167	0.44285	D	0.000479	T	0.26412	0.0645	N	0.08118	0	0.41857	D	0.990203	P	0.46277	0.875	P	0.51945	0.685	T	0.15665	-1.0429	10	0.87932	D	0	-6.3062	4.8016	0.13299	0.2162:0.3024:0.0:0.4814	.	357	Q9ULE0	WWC3_HUMAN	W	357;357;21;357	ENSP00000370242:C357W;ENSP00000399584:C357W	ENSP00000370242:C357W	C	+	3	2	WWC3	10045170	0.001000	0.12720	0.998000	0.56505	0.934000	0.57294	-1.771000	0.01789	-0.080000	0.12685	0.377000	0.23210	TGT	WWC3	-	NULL	ENSG00000047644		0.667	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	30	0.00	0	T	NM_015691		10085170	10085170	+1	no_errors	ENST00000380861	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.807	G
WWC3	55841	genome.wustl.edu	37	X	10085366	10085366	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:10085366C>T	ENST00000380861.4	+	11	1658	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	WWC3_ENST00000454666.1_Nonsense_Mutation_p.R423*	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	423	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTCTCTGGGGCGAGATGCTCC	0.652																																						dbGAP											0													63.0	61.0	61.0					X																	10085366		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1267C>T	X.37:g.10085366C>T	ENSP00000370242:p.Arg423*		A8KA96|Q659C1|Q9BTQ1	Nonsense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R423*	ENST00000380861.4	37	c.1267	CCDS14136.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.310836	0.97462	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543293;ENST00000398613	.	.	.	5.43	2.22	0.28083	.	0.298905	0.36066	N	0.002817	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-1.6614	12.7839	0.57493	0.7287:0.2712:0.0:0.0	.	.	.	.	X	423;423;87;423	.	ENSP00000370242:R423X	R	+	1	2	WWC3	10045366	0.876000	0.30132	0.002000	0.10522	0.129000	0.20672	1.823000	0.39062	0.456000	0.26937	0.464000	0.42555	CGA	WWC3	-	NULL	ENSG00000047644		0.652	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	38	0.00	0	C	NM_015691		10085366	10085366	+1	no_errors	ENST00000380861	ensembl	human	known	69_37n	nonsense	30	25.00	10	SNP	0.017	T
WWP2	11060	genome.wustl.edu	37	16	69951724	69951724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:69951724C>T	ENST00000359154.2	+	10	1218	c.1117C>T	c.(1117-1119)Cag>Tag	p.Q373*	WWP2_ENST00000542271.1_Nonsense_Mutation_p.Q257*|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Nonsense_Mutation_p.Q373*|WWP2_ENST00000356003.2_Nonsense_Mutation_p.Q373*	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	373					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAGCAGTGGCAGTCGCAGCG	0.617																																						dbGAP											0													61.0	55.0	57.0					16																	69951724		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1117C>T	16.37:g.69951724C>T	ENSP00000352069:p.Gln373*		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Nonsense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.Q373*	ENST00000359154.2	37	c.1117	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	C	38	7.271076	0.98179	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	.	.	.	5.72	4.78	0.61160	.	0.233435	0.45606	D	0.000346	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6817	0.69023	0.0:0.9308:0.0:0.0692	.	.	.	.	X	373;373;373;260;257	.	.	Q	+	1	0	WWP2	68509225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	1.421000	0.47157	0.655000	0.94253	CAG	WWP2	-	NULL	ENSG00000198373		0.617	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	96	0.00	0	C	NM_007014		69951724	69951724	+1	no_errors	ENST00000356003	ensembl	human	known	69_37n	nonsense	115	13.53	18	SNP	1.000	T
XPO1	7514	genome.wustl.edu	37	2	61717856	61717856	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr2:61717856G>A	ENST00000401558.2	-	17	2670	c.1943C>T	c.(1942-1944)aCa>aTa	p.T648I	XPO1_ENST00000406957.1_Missense_Mutation_p.T648I|XPO1_ENST00000404992.2_Missense_Mutation_p.T648I	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	648	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTCTTGTACTGTTTGATCTGT	0.353			Mis		CLL																																	dbGAP	-'	Dom	yes		2	2p15	7514	"""exportin 1 (CRM1 homolog, yeast)"""		L	0													232.0	198.0	209.0					2																	61717856		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.1943C>T	2.37:g.61717856G>A	ENSP00000384863:p.Thr648Ile		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.T648I	ENST00000401558.2	37	c.1943	CCDS33205.1	2	.	.	.	.	.	.	.	.	.	.	G	16.07	3.017508	0.54576	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.64618	-0.11;-0.11;-0.11	6.16	6.16	0.99307	Armadillo-type fold (1);	0.045623	0.85682	D	0.000000	T	0.51295	0.1666	N	0.17082	0.46	0.52501	D	0.999958	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.36744	-0.9735	10	0.40728	T	0.16	-17.7202	20.8598	0.99761	0.0:0.0:1.0:0.0	.	295;648	B3KWD0;O14980	.;XPO1_HUMAN	I	648	ENSP00000384863:T648I;ENSP00000385942:T648I;ENSP00000385559:T648I	ENSP00000384863:T648I	T	-	2	0	XPO1	61571360	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.803000	0.75180	2.937000	0.99478	0.650000	0.86243	ACA	XPO1	-	superfamily_ARM-type_fold	ENSG00000082898		0.353	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO1	HGNC	protein_coding	OTTHUMT00000325872.3	133	0.00	0	G	NM_003400		61717856	61717856	-1	no_errors	ENST00000401558	ensembl	human	known	69_37n	missense	114	10.24	13	SNP	1.000	A
YEATS2	55689	genome.wustl.edu	37	3	183442290	183442290	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:183442290G>A	ENST00000305135.5	+	6	816	c.621G>A	c.(619-621)aaG>aaA	p.K207K		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	207	YEATS. {ECO:0000255|PROSITE- ProRule:PRU00376}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTTTTGTAAAGAAAACAATAG	0.333																																						dbGAP											0													94.0	88.0	90.0					3																	183442290		1848	4089	5937	-	-	-	SO:0001819	synonymous_variant	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.621G>A	3.37:g.183442290G>A			A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	pfam_YEATS,pfscan_YEATS	p.K207	ENST00000305135.5	37	c.621	CCDS43175.1	3																																																																																			YEATS2	-	pfscan_YEATS	ENSG00000163872		0.333	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	82	0.00	0	G	NM_018023		183442290	183442290	+1	no_errors	ENST00000305135	ensembl	human	known	69_37n	silent	43	12.24	6	SNP	1.000	A
YIPF1	54432	genome.wustl.edu	37	1	54344353	54344353	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:54344353C>T	ENST00000072644.1	-	5	574	c.238G>A	c.(238-240)Gaa>Aaa	p.E80K	YIPF1_ENST00000371399.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000539954.1_Missense_Mutation_p.E105K	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	80						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						TGGTAGTATTCAAATGTCCAG	0.373																																						dbGAP											0													97.0	100.0	99.0					1																	54344353		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009674	CCDS584.1	1p33-p32.1	2008-02-05			ENSG00000058799	ENSG00000058799		"""Yip1 domain family"""	25231	protein-coding gene	gene with protein product						12477932	Standard	NM_018982		Approved	DJ167A19.1, FinGER1	uc001cvu.3	Q9Y548	OTTHUMG00000008074	ENST00000072644.1:c.238G>A	1.37:g.54344353C>T	ENSP00000072644:p.Glu80Lys		B2RCM7|D3DQ40|Q9NWJ1	Missense_Mutation	SNP	pfam_Yip1,superfamily_Ribonuclease/ribotoxin	p.E105K	ENST00000072644.1	37	c.313	CCDS584.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537268	0.85812	.	.	ENSG00000058799	ENST00000072644;ENST00000539954;ENST00000412288	.	.	.	5.42	5.42	0.78866	.	0.050303	0.85682	D	0.000000	T	0.54743	0.1877	L	0.58101	1.795	0.80722	D	1	P	0.46395	0.877	B	0.40741	0.339	T	0.53634	-0.8411	9	0.13470	T	0.59	-13.4178	18.8163	0.92077	0.0:1.0:0.0:0.0	.	80	Q9Y548	YIPF1_HUMAN	K	80;105;80	.	ENSP00000072644:E80K	E	-	1	0	YIPF1	54116941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.249000	0.78278	2.525000	0.85131	0.655000	0.94253	GAA	YIPF1	-	superfamily_Ribonuclease/ribotoxin	ENSG00000058799		0.373	YIPF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF1	HGNC	protein_coding	OTTHUMT00000022103.5	126	0.00	0	C	NM_018982		54344353	54344353	-1	no_errors	ENST00000539954	ensembl	human	known	69_37n	missense	235	17.77	51	SNP	1.000	T
ZAR1	326340	genome.wustl.edu	37	4	48494868	48494868	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr4:48494868C>T	ENST00000327939.4	+	2	1089	c.1049C>T	c.(1048-1050)aCt>aTt	p.T350I		NM_175619.1	NP_783318.1	Q86SH2	ZAR1_HUMAN	zygote arrest 1	350					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)				endometrium(1)|large_intestine(4)	5						GTACAGGGAACTAACAAGGTA	0.418																																						dbGAP											0													193.0	194.0	193.0					4																	48494868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY193890	CCDS3483.1	4p11	2014-02-20			ENSG00000182223	ENSG00000182223			20436	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 6"""	607520				12539046	Standard	NM_175619		Approved	Z3CXXC6	uc003gyd.3	Q86SH2	OTTHUMG00000102093	ENST00000327939.4:c.1049C>T	4.37:g.48494868C>T	ENSP00000329803:p.Thr350Ile			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.T350I	ENST00000327939.4	37	c.1049	CCDS3483.1	4	.	.	.	.	.	.	.	.	.	.	C	19.86	3.904731	0.72868	.	.	ENSG00000182223	ENST00000327939	T	0.22336	1.96	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	M	0.79123	2.44	0.58432	D	0.999998	D	0.89917	1.0	D	0.80764	0.994	T	0.53809	-0.8386	10	0.87932	D	0	-4.9001	19.3331	0.94299	0.0:1.0:0.0:0.0	.	350	Q86SH2	ZAR1_HUMAN	I	350	ENSP00000329803:T350I	ENSP00000329803:T350I	T	+	2	0	ZAR1	48189625	1.000000	0.71417	0.948000	0.38648	0.343000	0.28985	4.553000	0.60753	2.585000	0.87301	0.462000	0.41574	ACT	ZAR1	-	superfamily_Znf_FYVE_PHD	ENSG00000182223		0.418	ZAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAR1	HGNC	protein_coding	OTTHUMT00000219927.3	138	0.00	0	C			48494868	48494868	+1	no_errors	ENST00000327939	ensembl	human	known	69_37n	missense	115	43.63	89	SNP	1.000	T
ZBED1	9189	genome.wustl.edu	37	X	2407717	2407717	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chrX:2407717G>A	ENST00000381223.4	-	2	1247	c.1044C>T	c.(1042-1044)agC>agT	p.S348S	ZBED1_ENST00000381218.3_Silent_p.S348S|ZBED1_ENST00000515319.1_5'Flank|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.S348S	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	348					metabolic process (GO:0008152)	nuclear chromosome (GO:0000228)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transposase activity (GO:0004803)			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				AGACGCGGTTGCTCACCAGCA	0.612																																						dbGAP											0													65.0	50.0	55.0					X																	2407717		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AB018328	CCDS14118.1	Xp22.33 and Yp11	2013-05-03	2004-01-14	2004-01-16	ENSG00000214717	ENSG00000214717		"""Pseudoautosomal regions / PAR1"", ""Zinc fingers, BED-type"""	447	protein-coding gene	gene with protein product		300178	"""Ac-like transposable element"""	ALTE		9872452, 9887332, 23533661	Standard	NM_001171135		Approved	TRAMP, KIAA0785, DREF, hDREF	uc004cqh.2	O96006	OTTHUMG00000021069	ENST00000381223.4:c.1044C>T	X.37:g.2407717G>A			Q96BY4	Silent	SNP	pfam_HATC,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S348	ENST00000381223.4	37	c.1044	CCDS14118.1	X																																																																																			ZBED1	-	superfamily_RNaseH-like_dom	ENSG00000214717		0.612	ZBED1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED1	HGNC	protein_coding	OTTHUMT00000144310.3	46	0.00	0	G	NM_004729		2407717	2407717	-1	no_errors	ENST00000381218	ensembl	human	known	69_37n	silent	18	20.83	5	SNP	0.978	A
ZBED4	9889	genome.wustl.edu	37	22	50280505	50280505	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:50280505G>A	ENST00000216268.5	+	2	3672	c.3195G>A	c.(3193-3195)tgG>tgA	p.W1065*		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1065						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGAACCTGTGGTCACTTGTGG	0.547																																						dbGAP											0													86.0	68.0	74.0					22																	50280505		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3195G>A	22.37:g.50280505G>A	ENSP00000216268:p.Trp1065*		B2RZH1|Q1ECU0|Q9UGG8	Nonsense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.W1065*	ENST00000216268.5	37	c.3195	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	G	41	8.961973	0.99018	.	.	ENSG00000100426	ENST00000216268	.	.	.	5.18	5.18	0.71444	.	0.067407	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.7932	18.8805	0.92354	0.0:0.0:1.0:0.0	.	.	.	.	X	1065	.	ENSP00000216268:W1065X	W	+	3	0	ZBED4	48666509	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	5.248000	0.65421	2.707000	0.92482	0.655000	0.94253	TGG	ZBED4	-	superfamily_RNaseH-like_dom	ENSG00000100426		0.547	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	52	0.00	0	G	NM_014838		50280505	50280505	+1	no_errors	ENST00000216268	ensembl	human	known	69_37n	nonsense	39	40.00	26	SNP	1.000	A
ZC3H12D	340152	genome.wustl.edu	37	6	149795446	149795446	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:149795446C>T	ENST00000409806.3	-	2	552	c.234G>A	c.(232-234)ctG>ctA	p.L78L	ZC3H12D_ENST00000416573.2_Silent_p.L78L|ZC3H12D_ENST00000389942.5_Silent_p.L78L|ZC3H12D_ENST00000542614.1_Silent_p.L78L|ZC3H12D_ENST00000409948.1_Silent_p.L78L			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	78					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		AGTCCTCTTCCAGGGCTGTCC	0.667																																						dbGAP											0													35.0	38.0	37.0					6																	149795446		2009	4175	6184	-	-	-	SO:0001819	synonymous_variant	0					6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"""Zinc fingers, CCCH-type domain containing"""	21175	protein-coding gene	gene with protein product	"""MCP induced protein 4"""	611106	"""chromosome 6 open reading frame 95"""	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.234G>A	6.37:g.149795446C>T			A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Silent	SNP	pfam_RNase_Zc3h12	p.L78	ENST00000409806.3	37	c.234		6																																																																																			ZC3H12D	-	NULL	ENSG00000178199		0.667	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	ZC3H12D	HGNC	protein_coding	OTTHUMT00000286400.2	31	0.00	0	C	NM_207360		149795446	149795446	-1	no_errors	ENST00000389942	ensembl	human	known	69_37n	silent	20	16.67	4	SNP	0.000	T
ZCCHC14	23174	genome.wustl.edu	37	16	87445970	87445970	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:87445970G>A	ENST00000268616.4	-	12	2163	c.1946C>T	c.(1945-1947)tCt>tTt	p.S649F		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	649							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGAAATGGCAGAATCAGCAGG	0.567																																						dbGAP											0													97.0	111.0	106.0					16																	87445970		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1946C>T	16.37:g.87445970G>A	ENSP00000268616:p.Ser649Phe		D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_CCHC,superfamily_Phox,superfamily_SAM/pointed,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.S649F	ENST00000268616.4	37	c.1946	CCDS10961.1	16	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913162	0.33815	.	.	ENSG00000140948	ENST00000268616	T	0.20738	2.05	5.83	5.83	0.93111	.	0.520899	0.20288	N	0.095304	T	0.30727	0.0774	N	0.24115	0.695	0.09310	N	1	D;D	0.65815	0.995;0.991	P;P	0.58172	0.834;0.687	T	0.11966	-1.0566	10	0.66056	D	0.02	-1.9442	18.3041	0.90175	0.0:0.0:1.0:0.0	.	649;649	Q8WYQ9-2;Q8WYQ9	.;ZCH14_HUMAN	F	649	ENSP00000268616:S649F	ENSP00000268616:S649F	S	-	2	0	ZCCHC14	86003471	0.616000	0.27035	0.007000	0.13788	0.072000	0.16883	4.335000	0.59298	2.746000	0.94184	0.563000	0.77884	TCT	ZCCHC14	-	NULL	ENSG00000140948		0.567	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC14	HGNC	protein_coding	OTTHUMT00000269107.1	105	0.00	0	G	NM_015144		87445970	87445970	-1	no_errors	ENST00000268616	ensembl	human	known	69_37n	missense	93	30.60	41	SNP	0.034	A
ZC3H18	124245	genome.wustl.edu	37	16	88696911	88696911	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr16:88696911C>T	ENST00000301011.5	+	17	2785	c.2585C>T	c.(2584-2586)tCa>tTa	p.S862L	ZC3H18_ENST00000452588.2_Missense_Mutation_p.S886L	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	862						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S862L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GACCGGAAGTCAGGTGGGAGA	0.632																																					Ovarian(121;375 2276 20373 38669)	dbGAP											1	Substitution - Missense(1)	kidney(1)											53.0	49.0	50.0					16																	88696911		2197	4300	6497	-	-	-	SO:0001583	missense	0			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2585C>T	16.37:g.88696911C>T	ENSP00000301011:p.Ser862Leu		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.S862L	ENST00000301011.5	37	c.2585	CCDS10967.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.458495|4.458495	0.84317|0.84317	.|.	.|.	ENSG00000158545|ENSG00000158545	ENST00000289509|ENST00000301011;ENST00000452588	.|T;T	.|0.32272	.|1.46;1.47	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.369277	.|0.30492	.|N	.|0.009507	.|T	.|0.38268	.|0.1034	L|L	0.36672|0.36672	1.1|1.1	0.31694|0.31694	N|N	0.641501|0.641501	.|P;P	.|0.52692	.|0.955;0.955	.|P;P	.|0.53401	.|0.725;0.725	.|T	.|0.40961	.|-0.9535	.|10	0.87932|0.51188	D|T	0|0.08	-14.9406|-14.9406	15.8382|15.8382	0.78814|0.78814	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|886;862	.|E7ERS3;Q86VM9	.|.;ZCH18_HUMAN	X|L	688|862;886	.|ENSP00000301011:S862L;ENSP00000416951:S886L	ENSP00000289509:Q688X|ENSP00000301011:S862L	Q|S	+|+	1|2	0|0	ZC3H18|ZC3H18	87224412|87224412	0.998000|0.998000	0.40836|0.40836	0.965000|0.965000	0.40720|0.40720	0.966000|0.966000	0.64601|0.64601	3.238000|3.238000	0.51352|0.51352	2.517000|2.517000	0.84864|0.84864	0.462000|0.462000	0.41574|0.41574	CAG|TCA	ZC3H18	-	NULL	ENSG00000158545		0.632	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	11	0.00	0	C	NM_144604		88696911	88696911	+1	no_errors	ENST00000301011	ensembl	human	known	69_37n	missense	7	46.15	6	SNP	0.984	T
ZFAND2A	90637	genome.wustl.edu	37	7	1192701	1192701	+	3'UTR	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:1192701C>T	ENST00000316495.3	-	0	701				ZFAND2A_ENST00000401903.1_Intron	NM_182491.2	NP_872297.2	Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A						cellular response to arsenic-containing substance (GO:0071243)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	zinc ion binding (GO:0008270)			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		AGCGGAGTCTCTTCTCACCCA	0.582																																						dbGAP											0													102.0	79.0	87.0					7																	1192701		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC029558	CCDS5323.1	7p22.3	2010-04-23			ENSG00000178381	ENSG00000178381		"""Zinc fingers, AN1-type domain containing"""	28073	protein-coding gene	gene with protein product	"""arsenite inducible RNA associated protein"""	610699				20185824	Standard	NM_182491		Approved	AIRAP	uc003skc.3	Q8N6M9	OTTHUMG00000119019	ENST00000316495.3:c.*4G>A	7.37:g.1192701C>T			A4D220	Silent	SNP	pfam_Znf_AN1,smart_Znf_AN1	p.K153	ENST00000316495.3	37	c.459	CCDS5323.1	7																																																																																			ZFAND2A	-	NULL	ENSG00000178381		0.582	ZFAND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND2A	HGNC	protein_coding	OTTHUMT00000239220.2	18	0.00	0	C	NM_182491		1192701	1192701	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000397083	ensembl	human	putative	69_37n	silent	15	31.82	7	SNP	0.000	T
ZFAT	57623	genome.wustl.edu	37	8	135621014	135621014	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr8:135621014G>A	ENST00000377838.3	-	5	917	c.743C>T	c.(742-744)gCc>gTc	p.A248V	ZFAT_ENST00000520356.1_Missense_Mutation_p.A236V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A186V|ZFAT_ENST00000520727.1_Missense_Mutation_p.A236V|ZFAT_ENST00000429442.2_Missense_Mutation_p.A236V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A236V	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	248					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|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 positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGCTGAATGGCGTATTCCTG	0.502																																						dbGAP											0													127.0	122.0	124.0					8																	135621014		1955	4155	6110	-	-	-	SO:0001583	missense	0			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.743C>T	8.37:g.135621014G>A	ENSP00000367069:p.Ala248Val		B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A248V	ENST00000377838.3	37	c.743	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.372008	0.95923	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399;ENST00000398946;ENST00000522257	T;T;T;T;T;T;T	0.56776	2.87;2.8;2.81;2.79;2.8;2.83;0.44	5.94	5.94	0.96194	.	0.064498	0.64402	D	0.000006	T	0.64000	0.2559	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.89917	0.996;0.999;1.0;0.999	P;D;D;D	0.87578	0.905;0.994;0.998;0.994	T	0.60969	-0.7157	10	0.41790	T	0.15	-29.1992	19.3514	0.94389	0.0:0.0:1.0:0.0	.	186;236;236;248	E9PER3;E9PBN4;Q9P243-3;Q9P243	.;.;.;ZFAT_HUMAN	V	236;236;236;248;236;236;186;236;186	ENSP00000427879:A236V;ENSP00000427831:A236V;ENSP00000394501:A236V;ENSP00000367069:A248V;ENSP00000428483:A236V;ENSP00000429091:A186V;ENSP00000429983:A186V	ENSP00000326997:A236V	A	-	2	0	ZFAT	135690196	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	7.395000	0.79876	2.826000	0.97356	0.561000	0.74099	GCC	ZFAT	-	NULL	ENSG00000066827		0.502	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	HGNC	protein_coding	OTTHUMT00000378272.1	173	0.00	0	G	NM_001029939		135621014	135621014	-1	no_errors	ENST00000377838	ensembl	human	known	69_37n	missense	108	21.74	30	SNP	1.000	A
ZNF106	64397	genome.wustl.edu	37	15	42742652	42742652	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr15:42742652C>T	ENST00000263805.4	-	2	2075	c.1749G>A	c.(1747-1749)gtG>gtA	p.V583V	ZNF106_ENST00000565380.1_Intron|ZNF106_ENST00000565611.1_Intron	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	583					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTAGTGCGTGCACTTGAAACT	0.383																																						dbGAP											0													149.0	144.0	146.0					15																	42742652		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.1749G>A	15.37:g.42742652C>T			B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V583	ENST00000263805.4	37	c.1749	CCDS32208.1	15																																																																																			ZFP106	-	NULL	ENSG00000103994		0.383	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	442	0.00	0	C	NM_022473		42742652	42742652	-1	no_errors	ENST00000263805	ensembl	human	known	69_37n	silent	550	20.98	146	SNP	0.000	T
ZFP3	124961	genome.wustl.edu	37	17	4995656	4995656	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr17:4995656G>A	ENST00000318833.3	+	2	1193	c.857G>A	c.(856-858)tGt>tAt	p.C286Y		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	286					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(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TGCAATGAGTGTGGCAAAGCC	0.403																																						dbGAP											0													58.0	55.0	56.0					17																	4995656		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.857G>A	17.37:g.4995656G>A	ENSP00000320347:p.Cys286Tyr		A5PLL4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C286Y	ENST00000318833.3	37	c.857	CCDS11067.1	17	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684416	0.68157	.	.	ENSG00000180787	ENST00000318833	D	0.85861	-2.04	4.06	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39544	N	0.001330	D	0.91506	0.7318	M	0.78223	2.4	0.46874	D	0.99923	D	0.89917	1.0	D	0.72982	0.979	D	0.92411	0.5937	10	0.87932	D	0	-8.4984	14.545	0.68024	0.0:0.0:1.0:0.0	.	286	Q96NJ6	ZFP3_HUMAN	Y	286	ENSP00000320347:C286Y	ENSP00000320347:C286Y	C	+	2	0	ZFP3	4936380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.346000	0.97056	2.555000	0.86185	0.655000	0.94253	TGT	ZFP3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180787		0.403	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP3	HGNC	protein_coding	OTTHUMT00000438979.1	152	0.00	0	G	NM_153018		4995656	4995656	+1	no_errors	ENST00000318833	ensembl	human	known	69_37n	missense	188	26.85	69	SNP	1.000	A
ZFP64	55734	genome.wustl.edu	37	20	50776785	50776785	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr20:50776785C>T	ENST00000216923.4	-	5	989	c.640G>A	c.(640-642)Gac>Aac	p.D214N	ZFP64_ENST00000361387.2_Missense_Mutation_p.D214N|ZFP64_ENST00000346617.4_Missense_Mutation_p.D160N|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371518.2_Missense_Mutation_p.D214N|ZFP64_ENST00000371515.4_Missense_Mutation_p.D212N	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	214					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(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCTGCTGTCGGCAGCGGCG	0.592																																						dbGAP											0													136.0	131.0	133.0					20																	50776785		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.640G>A	20.37:g.50776785C>T	ENSP00000216923:p.Asp214Asn		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D214N	ENST00000216923.4	37	c.640	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.437114	0.96168	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2	5.93	5.93	0.95920	Zinc finger, C2H2-like (2);Zinc finger, C2H2 (4);Zinc finger, C2H2-type/integrase, DNA-binding (2);	0.000000	0.64402	D	0.000011	T	0.14917	0.0360	N	0.11845	0.185	0.58432	D	0.999997	D;D;D;D	0.76494	0.999;0.993;0.993;0.993	D;P;P;P	0.67231	0.95;0.719;0.719;0.632	T	0.33343	-0.9872	10	0.25751	T	0.34	-25.9262	20.3539	0.98825	0.0:1.0:0.0:0.0	.	160;212;214;214	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	N	214;214;214;160;212;56;367	ENSP00000360573:D214N;ENSP00000355179:D214N;ENSP00000216923:D214N;ENSP00000344615:D160N;ENSP00000360570:D212N	ENSP00000216923:D214N	D	-	1	0	ZFP64	50210192	1.000000	0.71417	0.972000	0.41901	0.833000	0.47200	6.003000	0.70701	2.826000	0.97356	0.655000	0.94253	GAC	ZFP64	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000020256		0.592	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	150	0.00	0	C	NM_018197		50776785	50776785	-1	no_errors	ENST00000216923	ensembl	human	known	69_37n	missense	163	12.77	24	SNP	0.998	T
ZKSCAN1	7586	genome.wustl.edu	37	7	99627539	99627539	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:99627539G>A	ENST00000324306.6	+	4	870	c.636G>A	c.(634-636)caG>caA	p.Q212Q	ZKSCAN1_ENST00000535170.1_5'UTR|ZKSCAN1_ENST00000426572.1_Silent_p.Q176Q	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	212					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(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCAGAGACCAGGCGATGGCAT	0.582																																						dbGAP											0													130.0	119.0	123.0					7																	99627539		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.636G>A	7.37:g.99627539G>A			A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Silent	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.Q212	ENST00000324306.6	37	c.636	CCDS34698.1	7																																																																																			ZKSCAN1	-	NULL	ENSG00000106261		0.582	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN1	HGNC	protein_coding	OTTHUMT00000344550.2	121	0.00	0	G	NM_003439		99627539	99627539	+1	no_errors	ENST00000324306	ensembl	human	known	69_37n	silent	179	10.50	21	SNP	0.729	A
ZMYM6	9204	genome.wustl.edu	37	1	35477543	35477543	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:35477543G>A	ENST00000357182.4	-	8	1237	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	ZMYM6_ENST00000487874.1_Missense_Mutation_p.S337L|ZMYM6_ENST00000373340.2_Missense_Mutation_p.S337L|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	337					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S337*(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGTTCCATTTGACATGGCTAG	0.398																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											156.0	136.0	143.0					1																	35477543		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1010C>T	1.37:g.35477543G>A	ENSP00000349708:p.Ser337Leu		B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH	p.S337L	ENST00000357182.4	37	c.1010	CCDS387.2	1	.	.	.	.	.	.	.	.	.	.	G	31	5.080294	0.94050	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.27402	1.67;2.75	5.13	5.13	0.70059	TRASH (1);	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	M	0.71036	2.16	0.80722	D	1	D;D;D	0.59767	0.958;0.986;0.971	P;D;P	0.64877	0.694;0.93;0.859	T	0.53528	-0.8426	10	0.51188	T	0.08	-13.9504	19.1372	0.93433	0.0:0.0:1.0:0.0	.	240;337;337	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	L	337	ENSP00000362437:S337L;ENSP00000349708:S337L	ENSP00000349708:S337L	S	-	2	0	ZMYM6	35250130	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.596000	0.67570	2.827000	0.97445	0.650000	0.86243	TCA	ZMYM6	-	smart_TRASH	ENSG00000163867		0.398	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM6	HGNC	protein_coding	OTTHUMT00000011999.1	130	0.00	0	G	NM_007167		35477543	35477543	-1	no_errors	ENST00000357182	ensembl	human	known	69_37n	missense	74	42.19	54	SNP	1.000	A
ZNF101	94039	genome.wustl.edu	37	19	19790986	19790986	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:19790986T>A	ENST00000592502.1	+	4	1298	c.1188T>A	c.(1186-1188)tgT>tgA	p.C396*	ZNF101_ENST00000415784.2_Nonsense_Mutation_p.C276*			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	396					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(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CCTTTGATTGTAAACAGTGTG	0.448																																						dbGAP											0													75.0	71.0	72.0					19																	19790986		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.1188T>A	19.37:g.19790986T>A	ENSP00000468049:p.Cys396*		C9JU83|Q0VDG9	Nonsense_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.C396*	ENST00000592502.1	37	c.1188	CCDS32971.1	19	.	.	.	.	.	.	.	.	.	.	T	14.43	2.532824	0.45073	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8392	0.13481	0.0:2.0E-4:0.0:0.9998	.	.	.	.	X	396;396;276	.	.	C	+	3	2	ZNF101	19651986	0.000000	0.05858	0.190000	0.23270	0.190000	0.23558	-0.340000	0.07821	0.263000	0.21812	0.260000	0.18958	TGT	ZNF101	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181896		0.448	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF101	HGNC	protein_coding	OTTHUMT00000460559.1	81	0.00	0	T	NM_033204		19790986	19790986	+1	no_errors	ENST00000318110	ensembl	human	known	69_37n	nonsense	125	10.71	15	SNP	0.034	A
ZNF143	7702	genome.wustl.edu	37	11	9494268	9494268	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr11:9494268G>A	ENST00000396602.2	+	3	276	c.157G>A	c.(157-159)Gta>Ata	p.V53I	ZNF143_ENST00000396604.1_Missense_Mutation_p.V53I|ZNF143_ENST00000530463.1_Missense_Mutation_p.V53I|ZNF143_ENST00000299606.2_Missense_Mutation_p.V53I|ZNF143_ENST00000396597.3_Intron	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	53					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CTTGCAAGCAGTAACACTTGC	0.358																																						dbGAP											0													159.0	150.0	153.0					11																	9494268		2201	4294	6495	-	-	-	SO:0001583	missense	0			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.157G>A	11.37:g.9494268G>A	ENSP00000379847:p.Val53Ile		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V53I	ENST00000396602.2	37	c.157	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375032	0.82682	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000532577;ENST00000438144;ENST00000526657;ENST00000299606;ENST00000534265;ENST00000412390;ENST00000414370;ENST00000417726	T;T;T;T;T;T;T;T;T;T	0.58358	0.51;2.35;2.24;2.35;0.46;0.44;0.34;2.4;0.43;0.51	5.23	5.23	0.72850	.	0.194734	0.34484	N	0.003930	T	0.48804	0.1520	L	0.41236	1.265	0.80722	D	1	B;B	0.22276	0.067;0.067	B;B	0.25884	0.064;0.064	T	0.40534	-0.9558	10	0.42905	T	0.14	.	18.9965	0.92815	0.0:0.0:1.0:0.0	.	53;53	E7ER34;P52747	.;ZN143_HUMAN	I	53	ENSP00000434638:V53I;ENSP00000379849:V53I;ENSP00000379847:V53I;ENSP00000432154:V53I;ENSP00000433221:V53I;ENSP00000409432:V53I;ENSP00000435881:V53I;ENSP00000299606:V53I;ENSP00000433743:V53I;ENSP00000388628:V53I	ENSP00000299606:V53I	V	+	1	0	ZNF143	9450844	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.098000	0.94202	2.722000	0.93159	0.650000	0.86243	GTA	ZNF143	-	NULL	ENSG00000166478		0.358	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	169	0.00	0	G	NM_003442		9494268	9494268	+1	no_errors	ENST00000396602	ensembl	human	known	69_37n	missense	148	21.69	41	SNP	1.000	A
ZNF181	339318	genome.wustl.edu	37	19	35232357	35232357	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:35232357C>T	ENST00000492450.1	+	4	1160	c.1071C>T	c.(1069-1071)gcC>gcT	p.A357A	ZNF181_ENST00000392232.3_Silent_p.A401A|ZNF181_ENST00000459757.2_Silent_p.A356A			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	357					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(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTGGAAAGGCCTTCATTCATA	0.393																																						dbGAP											0													62.0	61.0	61.0					19																	35232357		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.1071C>T	19.37:g.35232357C>T			B7ZKX3|Q49A75	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A357	ENST00000492450.1	37	c.1071	CCDS32990.2	19																																																																																			ZNF181	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197841		0.393	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	ZNF181	HGNC	protein_coding	OTTHUMT00000349005.3	104	0.00	0	C	NM_001029997		35232357	35232357	+1	no_errors	ENST00000492450	ensembl	human	known	69_37n	silent	141	12.35	20	SNP	0.835	T
ZNF146	7705	genome.wustl.edu	37	19	36727665	36727665	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:36727665C>T	ENST00000443387.2	+	4	1315	c.323C>T	c.(322-324)gCt>gTt	p.A108V	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Missense_Mutation_p.A108V	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	108					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TGCGGGAAAGCTTTCATTCAG	0.418																																						dbGAP											0													58.0	63.0	62.0					19																	36727665		2203	4299	6502	-	-	-	SO:0001583	missense	0			X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.323C>T	19.37:g.36727665C>T	ENSP00000392095:p.Ala108Val		Q2TB94	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A108V	ENST00000443387.2	37	c.323	CCDS12492.1	19	.	.	.	.	.	.	.	.	.	.	C	18.30	3.594102	0.66219	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.13778	2.56;2.56	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38217	N	0.001777	T	0.22898	0.0553	L	0.31294	0.92	0.28444	N	0.916683	D	0.69078	0.997	D	0.77004	0.989	T	0.01212	-1.1417	10	0.48119	T	0.1	-13.9067	11.2952	0.49274	0.0:0.7077:0.2923:0.0	.	108	Q15072	OZF_HUMAN	V	108	ENSP00000392095:A108V;ENSP00000400391:A108V	ENSP00000392095:A108V	A	+	2	0	ZNF146	41419505	0.630000	0.27155	1.000000	0.80357	0.991000	0.79684	0.914000	0.28624	2.713000	0.92767	0.644000	0.83932	GCT	ZNF146	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167635		0.418	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF146	HGNC	protein_coding	OTTHUMT00000451706.1	105	0.00	0	C	NM_007145		36727665	36727665	+1	no_errors	ENST00000443387	ensembl	human	known	69_37n	missense	158	10.67	19	SNP	0.998	T
ZNF292	23036	genome.wustl.edu	37	6	87968186	87968186	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr6:87968186G>A	ENST00000369577.3	+	8	4882	c.4839G>A	c.(4837-4839)caG>caA	p.Q1613Q	ZNF292_ENST00000339907.4_Silent_p.Q1608Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1613						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 positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTGGTCCTCAGAACACAAGAT	0.383																																						dbGAP											0													67.0	61.0	63.0					6																	87968186		1864	4103	5967	-	-	-	SO:0001819	synonymous_variant	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4839G>A	6.37:g.87968186G>A			Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q1613	ENST00000369577.3	37	c.4839	CCDS47457.1	6																																																																																			ZNF292	-	NULL	ENSG00000188994		0.383	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	134	0.00	0	G	NM_015021		87968186	87968186	+1	no_errors	ENST00000369577	ensembl	human	known	69_37n	silent	125	16.11	24	SNP	0.938	A
ZNF333	84449	genome.wustl.edu	37	19	14827050	14827050	+	Splice_Site	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:14827050G>A	ENST00000292530.6	+	9	818	c.727G>A	c.(727-729)Gct>Act	p.A243T	ZNF333_ENST00000536363.1_Splice_Site_p.A134T|ZNF333_ENST00000540689.2_Splice_Site_p.A243T	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	243	KRAB 2. {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)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGCCTCTGTGGGTAAGGCAGC	0.488																																					NSCLC(60;75 1281 16985 25154 29885)	dbGAP											0													104.0	97.0	100.0					19																	14827050		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.727+1G>A	19.37:g.14827050G>A			Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A243T	ENST00000292530.6	37	c.727	CCDS12316.1	19	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219835	0.79464	.	.	ENSG00000160961	ENST00000536363;ENST00000540689;ENST00000292530	T;T;T	0.00808	5.67;5.67;5.67	3.43	3.43	0.39272	Krueppel-associated box (3);	.	.	.	.	T	0.01124	0.0037	L	0.41906	1.305	0.80722	D	1	B	0.14012	0.009	B	0.15870	0.014	T	0.61327	-0.7085	9	0.22109	T	0.4	.	12.7736	0.57436	0.0:0.0:1.0:0.0	.	243	Q96JL9	ZN333_HUMAN	T	134;243;243	ENSP00000439749:A134T;ENSP00000438130:A243T;ENSP00000292530:A243T	ENSP00000292530:A243T	A	+	1	0	ZNF333	14688050	1.000000	0.71417	0.995000	0.50966	0.907000	0.53573	5.285000	0.65633	1.932000	0.55993	0.555000	0.69702	GCT	ZNF333	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000160961		0.488	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF333	HGNC	protein_coding	OTTHUMT00000466496.1	328	0.00	0	G	NM_032433	Missense_Mutation	14827050	14827050	+1	no_errors	ENST00000292530	ensembl	human	known	69_37n	missense	309	50.56	316	SNP	1.000	A
ZNF362	149076	genome.wustl.edu	37	1	33760591	33760591	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:33760591C>T	ENST00000539719.1	+	7	1132	c.962C>T	c.(961-963)gCt>gTt	p.A321V	ZNF362_ENST00000373428.5_Missense_Mutation_p.A321V	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGCGAGAAGGCTTTCACTCAG	0.612											OREG0013342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(162;1431 2676 35353 38425)	dbGAP											0													118.0	92.0	101.0					1																	33760591		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS377.1	1p35.1	2013-01-08			ENSG00000160094	ENSG00000160094		"""Zinc fingers, C2H2-type"""	18079	protein-coding gene	gene with protein product	"""rotund homolog (Drosophila)"""						Standard	NM_152493		Approved	FLJ25476, lin-29, RN	uc001bxc.1	Q5T0B9	OTTHUMG00000004124	ENST00000539719.1:c.962C>T	1.37:g.33760591C>T	ENSP00000446335:p.Ala321Val	842	Q8WYU4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A321V	ENST00000539719.1	37	c.962	CCDS377.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.112685	0.94339	.	.	ENSG00000160094	ENST00000539719;ENST00000373428	T;T	0.36340	1.26;1.26	4.27	4.27	0.50696	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.617048	0.14352	N	0.325016	T	0.47154	0.1430	N	0.26092	0.79	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.44802	-0.9304	10	0.54805	T	0.06	-7.1413	14.2159	0.65792	0.0:1.0:0.0:0.0	.	321	Q5T0B9	ZN362_HUMAN	V	321	ENSP00000446335:A321V;ENSP00000362527:A321V	ENSP00000362527:A321V	A	+	2	0	ZNF362	33533178	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.273000	0.78527	2.200000	0.70718	0.462000	0.41574	GCT	ZNF362	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160094		0.612	ZNF362-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF362	HGNC	protein_coding	OTTHUMT00000011857.2	56	0.00	0	C	NM_152493		33760591	33760591	+1	no_errors	ENST00000373428	ensembl	human	known	69_37n	missense	49	32.88	24	SNP	1.000	T
ZNF366	167465	genome.wustl.edu	37	5	71739898	71739898	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr5:71739898C>T	ENST00000318442.5	-	5	2410	c.1920G>A	c.(1918-1920)caG>caA	p.Q640Q	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	640	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGCAGAGCTGCTGGCTCTGGG	0.652																																						dbGAP											0													110.0	123.0	119.0					5																	71739898		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1920G>A	5.37:g.71739898C>T			Q5HYI9|Q7RTV4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q640	ENST00000318442.5	37	c.1920	CCDS4015.1	5																																																																																			ZNF366	-	NULL	ENSG00000178175		0.652	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	HGNC	protein_coding	OTTHUMT00000218574.3	96	0.00	0	C			71739898	71739898	-1	no_errors	ENST00000318442	ensembl	human	known	69_37n	silent	129	40.91	90	SNP	0.007	T
ZNF445	353274	genome.wustl.edu	37	3	44490164	44490164	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:44490164G>A	ENST00000396077.2	-	8	1346	c.999C>T	c.(997-999)acC>acT	p.T333T	ZNF445_ENST00000425708.2_Silent_p.T333T	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	333					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACACAGCTAAGGTTTCTGCTT	0.403																																						dbGAP											0													57.0	58.0	57.0					3																	44490164		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.999C>T	3.37:g.44490164G>A			Q3MJD1	Silent	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.T333	ENST00000396077.2	37	c.999	CCDS2713.1	3																																																																																			ZNF445	-	NULL	ENSG00000185219		0.403	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF445	HGNC	protein_coding	OTTHUMT00000256647.2	92	0.00	0	G	NM_181489		44490164	44490164	-1	no_errors	ENST00000396077	ensembl	human	known	69_37n	silent	70	39.13	45	SNP	0.000	A
ZNF551	90233	genome.wustl.edu	37	19	58198033	58198033	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:58198033G>C	ENST00000282296.5	+	3	575	c.390G>C	c.(388-390)aaG>aaC	p.K130N	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000599402.1_3'UTR|ZNF551_ENST00000356715.4_Missense_Mutation_p.K114N			Q7Z340	ZN551_HUMAN	zinc finger protein 551	130					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)		CTGTGCAAAAGTCATACTTGG	0.483																																						dbGAP											0													136.0	132.0	133.0					19																	58198033		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.390G>C	19.37:g.58198033G>C	ENSP00000282296:p.Lys130Asn		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.K130N	ENST00000282296.5	37	c.390	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	G	6.347	0.432115	0.12045	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	T	0.07327	3.2	2.08	-3.13	0.05266	.	.	.	.	.	T	0.08582	0.0213	M	0.64997	1.995	0.09310	N	1	P	0.39964	0.697	B	0.38500	0.275	T	0.10154	-1.0642	9	0.62326	D	0.03	.	4.461	0.11666	0.2981:0.217:0.4849:0.0	.	130	Q7Z340	ZN551_HUMAN	N	130;114	ENSP00000282296:K114N	ENSP00000282296:K114N	K	+	3	2	ZNF551	62889845	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.563000	0.05943	-1.010000	0.03396	-0.378000	0.06908	AAG	ZNF551	-	NULL	ENSG00000204519		0.483	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	286	0.00	0	G	NM_138347		58198033	58198033	+1	no_errors	ENST00000356715	ensembl	human	known	69_37n	missense	202	18.15	45	SNP	0.000	C
ZNF556	80032	genome.wustl.edu	37	19	2873608	2873608	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:2873608C>T	ENST00000307635.2	+	2	205	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	AC006130.1_ENST00000579582.1_RNA|ZNF556_ENST00000586426.1_Silent_p.L40L	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	40	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)	p.L40M(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCAAGCACCTGGCCTCAGT	0.458																																						dbGAP											1	Substitution - Missense(1)	lung(1)											164.0	151.0	155.0					19																	2873608		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	ENST00000307635.2:c.118C>T	19.37:g.2873608C>T			Q96GM3	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.L40	ENST00000307635.2	37	c.118	CCDS12097.1	19																																																																																			ZNF556	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000172000		0.458	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF556	HGNC	protein_coding	OTTHUMT00000451638.2	84	0.00	0	C	NM_024967		2873608	2873608	+1	no_errors	ENST00000307635	ensembl	human	known	69_37n	silent	83	47.80	76	SNP	0.034	T
ZNF551	90233	genome.wustl.edu	37	19	58198466	58198466	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:58198466G>C	ENST00000282296.5	+	3	1008	c.823G>C	c.(823-825)Gga>Cga	p.G275R	AC003006.7_ENST00000594684.1_Intron|AC003006.7_ENST00000599221.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.G259R			Q7Z340	ZN551_HUMAN	zinc finger protein 551	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)|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)		AATTCACACTGGACAAAAGAT	0.413																																						dbGAP											0													102.0	94.0	97.0					19																	58198466		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.823G>C	19.37:g.58198466G>C	ENSP00000282296:p.Gly275Arg		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.G275R	ENST00000282296.5	37	c.823	CCDS12959.2	19	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530235	0.27387	.	.	ENSG00000204519	ENST00000356715;ENST00000282296	.	.	.	2.76	0.518	0.17030	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41419	0.1158	L	0.49699	1.58	0.09310	N	1	D	0.53619	0.961	P	0.56960	0.81	T	0.21861	-1.0233	8	0.56958	D	0.05	.	4.0581	0.09826	0.2425:0.1962:0.5613:0.0	.	275	Q7Z340	ZN551_HUMAN	R	275;259	.	ENSP00000282296:G259R	G	+	1	0	ZNF551	62890278	0.019000	0.18553	0.001000	0.08648	0.010000	0.07245	0.896000	0.28377	0.070000	0.16634	0.561000	0.74099	GGA	ZNF551	-	pfscan_Znf_C2H2	ENSG00000204519		0.413	ZNF551-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF551	HGNC	protein_coding	OTTHUMT00000466803.2	255	0.00	0	G	NM_138347		58198466	58198466	+1	no_errors	ENST00000356715	ensembl	human	known	69_37n	missense	222	10.47	27	SNP	0.032	C
ZNF589	51385	genome.wustl.edu	37	3	48310219	48310219	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr3:48310219G>C	ENST00000354698.3	+	4	1110	c.1038G>C	c.(1036-1038)gaG>gaC	p.E346D	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	346					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAAAGTCAGAGCTCATTAAGC	0.483																																					Colon(9;319 328 25374 27611 50948)	dbGAP											0													86.0	94.0	91.0					3																	48310219		2143	4271	6414	-	-	-	SO:0001583	missense	0			AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.1038G>C	3.37:g.48310219G>C	ENSP00000346729:p.Glu346Asp		Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E346D	ENST00000354698.3	37	c.1038	CCDS43085.1	3	.	.	.	.	.	.	.	.	.	.	G	3.243	-0.154996	0.06544	.	.	ENSG00000164048	ENST00000354698;ENST00000296437	T	0.14766	2.48	1.07	-1.2	0.09554	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04272	0.0118	N	0.02985	-0.445	0.42641	D	0.993414	B;B	0.30406	0.278;0.024	B;B	0.33196	0.159;0.023	T	0.44997	-0.9291	9	0.12766	T	0.61	.	4.6105	0.12401	0.24:0.5198:0.2401:0.0	.	343;346	Q86UQ0-2;Q86UQ0	.;ZN589_HUMAN	D	346;343	ENSP00000346729:E346D	ENSP00000296437:E343D	E	+	3	2	ZNF589	48285223	0.000000	0.05858	0.035000	0.18076	0.018000	0.09664	-3.302000	0.00520	-0.392000	0.07751	-2.122000	0.00348	GAG	ZNF589	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164048		0.483	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF589	HGNC	protein_coding	OTTHUMT00000346124.1	156	0.00	0	G	NM_016089		48310219	48310219	+1	no_errors	ENST00000354698	ensembl	human	known	69_37n	missense	112	25.17	38	SNP	0.096	C
ZNF599	148103	genome.wustl.edu	37	19	35250487	35250487	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:35250487G>A	ENST00000329285.8	-	4	1592	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAAGTGGAGCGATGAGTAAAG	0.468																																						dbGAP											0													67.0	65.0	66.0					19																	35250487		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.1219C>T	19.37:g.35250487G>A	ENSP00000333802:p.Arg407Cys		Q569K0|Q5PRG1	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.R407C	ENST00000329285.8	37	c.1219	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	G	7.422	0.636884	0.14386	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.08634	3.07	2.53	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09818	0.0241	M	0.70275	2.135	0.09310	N	1	B	0.26318	0.146	B	0.15052	0.012	T	0.20075	-1.0286	9	0.44086	T	0.13	.	6.5286	0.22314	0.0:0.0:0.7127:0.2873	.	407	Q96NL3	ZN599_HUMAN	C	406;407;181	ENSP00000333802:R407C	ENSP00000333802:R407C	R	-	1	0	ZNF599	39942327	0.000000	0.05858	0.014000	0.15608	0.950000	0.60333	-0.220000	0.09215	0.615000	0.30124	0.491000	0.48974	CGC	ZNF599	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000153896		0.468	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	119	0.00	0	G	XM_086046		35250487	35250487	-1	no_errors	ENST00000329285	ensembl	human	known	69_37n	missense	143	15.38	26	SNP	0.000	A
ZNF669	79862	genome.wustl.edu	37	1	247265305	247265305	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:247265305C>T	ENST00000343381.6	-	2	544	c.372G>A	c.(370-372)agG>agA	p.R124R	ZNF669_ENST00000366501.1_Silent_p.R38R|ZNF669_ENST00000358785.4_Silent_p.R124R|ZNF669_ENST00000448299.2_Silent_p.R38R|ZNF669_ENST00000366500.1_Silent_p.R38R	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	124	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(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AAGCCAGGTTCCTGCAGGTTT	0.423																																						dbGAP											0													97.0	94.0	95.0					1																	247265305		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.372G>A	1.37:g.247265305C>T			B3KP94|Q5VT39|Q9H9Q6	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.R124	ENST00000343381.6	37	c.372	CCDS31088.1	1																																																																																			ZNF669	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000188295		0.423	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF669	HGNC	protein_coding	OTTHUMT00000098394.4	80	0.00	0	C	NM_024804		247265305	247265305	-1	no_errors	ENST00000343381	ensembl	human	known	69_37n	silent	115	40.10	77	SNP	0.990	T
ZNF69	7620	genome.wustl.edu	37	19	12015501	12015501	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr19:12015501G>A	ENST00000429654.2	+	4	429	c.289G>A	c.(289-291)Gac>Aac	p.D97N	ZNF69_ENST00000340180.5_Missense_Mutation_p.D83N			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	97	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(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AATTAAAGATGACAGTCATTG	0.343																																						dbGAP											0													87.0	92.0	90.0					19																	12015501		2203	4300	6503	-	-	-	SO:0001583	missense	0			X60076	CCDS32914.1	19p13.2	2013-01-08	2006-05-12		ENSG00000198429	ENSG00000198429		"""Zinc fingers, C2H2-type"", ""-"""	13138	protein-coding gene	gene with protein product		194543	"""zinc finger protein 69 (Cos5)"""			1639391	Standard	NM_021915		Approved	Cos5	uc002mst.4	Q9UC07	OTTHUMG00000156526	ENST00000429654.2:c.289G>A	19.37:g.12015501G>A	ENSP00000402985:p.Asp97Asn		Q86VA7	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.D97N	ENST00000429654.2	37	c.289		19	.	.	.	.	.	.	.	.	.	.	g	7.220	0.597185	0.13875	.	.	ENSG00000198429	ENST00000429654;ENST00000445911;ENST00000340180	T;T;T	0.08008	3.14;4.35;4.42	1.05	1.05	0.20165	.	.	.	.	.	T	0.05960	0.0155	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38972	-0.9636	9	0.26408	T	0.33	.	5.354	0.16051	0.2113:0.0:0.7887:0.0	.	83	C9JR48	.	N	97;83;83	ENSP00000402985:D97N;ENSP00000388784:D83N;ENSP00000345333:D83N	ENSP00000345333:D83N	D	+	1	0	ZNF69	11876501	0.000000	0.05858	0.007000	0.13788	0.004000	0.04260	-0.014000	0.12656	0.894000	0.36317	0.405000	0.27470	GAC	ZNF69	-	pfscan_Krueppel-associated_box	ENSG00000198429		0.343	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	ZNF69	HGNC	protein_coding	OTTHUMT00000344082.1	347	0.00	0	G	NM_021915		12015501	12015501	+1	no_errors	ENST00000429654	ensembl	human	known	69_37n	missense	844	24.98	281	SNP	0.002	A
ZNF777	27153	genome.wustl.edu	37	7	149152289	149152289	+	Silent	SNP	G	G	A			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr7:149152289G>A	ENST00000247930.4	-	2	1148	c.825C>T	c.(823-825)ggC>ggT	p.G275G		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	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)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CTCCATTGCTGCCGGGGGGCA	0.522																																						dbGAP											0													71.0	87.0	82.0					7																	149152289		2188	4293	6481	-	-	-	SO:0001819	synonymous_variant	0			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.825C>T	7.37:g.149152289G>A			Q8N2R2|Q8N659	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.G275	ENST00000247930.4	37	c.825	CCDS43675.1	7																																																																																			ZNF777	-	NULL	ENSG00000196453		0.522	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	HGNC	protein_coding	OTTHUMT00000352708.1	90	0.00	0	G	NM_015694		149152289	149152289	-1	no_errors	ENST00000247930	ensembl	human	known	69_37n	silent	100	44.79	86	SNP	1.000	A
ZNF782	158431	genome.wustl.edu	37	9	99580394	99580394	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr9:99580394C>T	ENST00000481138.1	-	6	2572	c.1911G>A	c.(1909-1911)caG>caA	p.Q637Q	ZNF782_ENST00000535338.1_Silent_p.Q505Q|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	637					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)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGTGAGTTCGCTGATGTTTTC	0.448																																						dbGAP											0													120.0	110.0	113.0					9																	99580394		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1911G>A	9.37:g.99580394C>T			B2RNR0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A626T	ENST00000481138.1	37	c.1876	CCDS35075.1	9	.	.	.	.	.	.	.	.	.	.	c	6.347	0.432047	0.12045	.	.	ENSG00000196597	ENST00000289032	.	.	.	3.06	2.16	0.27623	.	.	.	.	.	T	0.56499	0.1989	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51092	-0.8749	4	.	.	.	.	8.3877	0.32510	0.0:0.8779:0.0:0.1221	.	.	.	.	T	626	.	.	A	-	1	0	ZNF782	98620215	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	-0.061000	0.11693	0.859000	0.35456	0.655000	0.94253	GCG	ZNF782	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196597		0.448	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF782	HGNC	protein_coding	OTTHUMT00000356810.1	411	0.00	0	C	NM_001001662		99580394	99580394	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000289032	ensembl	human	putative	69_37n	missense	600	11.60	79	SNP	1.000	T
ZNRF3	84133	genome.wustl.edu	37	22	29442853	29442853	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr22:29442853G>C	ENST00000544604.2	+	6	1069	c.894G>C	c.(892-894)gaG>gaC	p.E298D	ZNRF3_ENST00000402174.1_Missense_Mutation_p.E198D|ZNRF3_ENST00000332811.4_Missense_Mutation_p.E198D|ZNRF3_ENST00000406323.3_Missense_Mutation_p.E198D	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	298					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TCTGTCTGGAGAAGTACATTG	0.597																																						dbGAP											0													88.0	100.0	96.0					22																	29442853		2047	4192	6239	-	-	-	SO:0001583	missense	0			AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.894G>C	22.37:g.29442853G>C	ENSP00000443824:p.Glu298Asp		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E298D	ENST00000544604.2	37	c.894	CCDS56225.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.037741|4.037741	0.75617|0.75617	.|.	.|.	ENSG00000183579|ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323|ENST00000462485	T;T;T;T|.	0.39406|.	1.08;1.08;1.08;1.08|.	6.0|6.0	4.98|4.98	0.66077|0.66077	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.44540|0.44540	0.1298|0.1298	N|N	0.20328|0.20328	0.56|0.56	0.52501|0.52501	D|D	0.999953|0.999953	D|.	0.56746|.	0.977|.	P|.	0.57152|.	0.814|.	T|T	0.48614|0.48614	-0.9020|-0.9020	10|6	0.49607|0.87932	T|D	0.09|0	-13.4184|-13.4184	8.6223|8.6223	0.33868|0.33868	0.1834:0.0:0.8166:0.0|0.1834:0.0:0.8166:0.0	.|.	298|.	Q9ULT6|.	ZNRF3_HUMAN|.	D|T	298;198;198;198|6	ENSP00000443824:E298D;ENSP00000328614:E198D;ENSP00000384456:E198D;ENSP00000384553:E198D|.	ENSP00000328614:E198D|ENSP00000440667:R6T	E|R	+|+	3|2	2|0	ZNRF3|ZNRF3	27772853|27772853	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.187000|5.187000	0.65087|0.65087	1.458000|1.458000	0.47871|0.47871	0.655000|0.655000	0.94253|0.94253	GAG|AGA	ZNRF3	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	ENSG00000183579		0.597	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF3	HGNC	protein_coding	OTTHUMT00000320943.2	98	0.00	0	G	XM_290972		29442853	29442853	+1	no_errors	ENST00000544604	ensembl	human	known	69_37n	missense	52	18.75	12	SNP	1.000	C
ZSCAN20	7579	genome.wustl.edu	37	1	33957180	33957181	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:33957180_33957181insG	ENST00000361328.3	+	6	1475_1476	c.1322_1323insG	c.(1321-1326)gaggaafs	p.E442fs	ZSCAN20_ENST00000373413.2_Frame_Shift_Ins_p.E388fs	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	442					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GATGAGCAGGAGGAAGGGGGCT	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.1324dupG	1.37:g.33957182_33957182dupG	ENSP00000355053:p.Glu442fs		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E442fs	ENST00000361328.3	37	c.1322_1323	CCDS41300.1	1																																																																																			ZSCAN20	-	NULL	ENSG00000121903		0.614	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	113	0.00	0	-	NM_145238		33957180	33957181	+1	no_errors	ENST00000326544	ensembl	human	known	69_37n	frame_shift_ins	106	12.40	15	INS	0.998:0.979	G
ZSCAN20	7579	genome.wustl.edu	37	1	33957186	33957187	+	In_Frame_Ins	INS	-	-	TCA			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:33957186_33957187insTCA	ENST00000361328.3	+	6	1481_1482	c.1328_1329insTCA	c.(1327-1332)gggggc>ggTCAgggc	p.443_444GG>GQG	ZSCAN20_ENST00000373413.2_In_Frame_Ins_p.389_390GG>GQG	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	443					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CAGGAGGAAGGGGGCTGGGATC	0.609																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	Exception_encountered	1.37:g.33957186_33957187insTCA	ENSP00000355053:p.Gly443_Gly444insGln		A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	In_Frame_Ins	INS	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.444in_frame_insQ	ENST00000361328.3	37	c.1328_1329	CCDS41300.1	1																																																																																			ZSCAN20	-	NULL	ENSG00000121903		0.609	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	114	0.00	0	-	NM_145238		33957186	33957187	+1	no_errors	ENST00000326544	ensembl	human	known	69_37n	in_frame_ins	94	13.76	15	INS	0.991:0.987	TCA
ZSCAN20	7579	genome.wustl.edu	37	1	33960296	33960296	+	Silent	SNP	C	C	T			TCGA-BH-A0HF-01A-11W-A071-09	TCGA-BH-A0HF-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	464a1d47-a56a-4667-b4c5-911e5d4a7363	6116e3af-4c46-4be9-98b3-ef1d6c3cdf65	g.chr1:33960296C>T	ENST00000361328.3	+	8	2505	c.2352C>T	c.(2350-2352)caC>caT	p.H784H		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	784					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCATCACTCACCAGAGAATTC	0.433																																						dbGAP											0													76.0	81.0	79.0					1																	33960296		2089	4250	6339	-	-	-	SO:0001819	synonymous_variant	0			X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.2352C>T	1.37:g.33960296C>T			A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_SANT/Myb,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H784	ENST00000361328.3	37	c.2352	CCDS41300.1	1																																																																																			ZSCAN20	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000121903		0.433	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN20	HGNC	protein_coding	OTTHUMT00000277003.2	390	0.00	0	C	NM_145238		33960296	33960296	+1	no_errors	ENST00000326544	ensembl	human	known	69_37n	silent	264	13.44	41	SNP	1.000	T
