#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
A2ML1	144568	genome.wustl.edu	37	12	8975286	8975286	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:8975286A>C	ENST00000299698.7	+	1	219	c.39A>C	c.(37-39)tcA>tcC	p.S13S	A2ML1-AS1_ENST00000537288.1_RNA|A2ML1-AS2_ENST00000394240.3_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TGGCCCTATCACCAGCCATTG	0.483																																						dbGAP											0													109.0	106.0	107.0					12																	8975286		1914	4132	6046	-	-	-	SO:0001819	synonymous_variant	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.39A>C	12.37:g.8975286A>C				Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S13	ENST00000299698.7	37	c.39	CCDS8596.2	12																																																																																			A2ML1	-	NULL	ENSG00000166535		0.483	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	128	0.78	1	A	NM_144670		8975286	8975286	+1	no_errors	ENST00000299698	ensembl	human	known	69_37n	silent	138	16.77	28	SNP	0.000	C
AAK1	22848	genome.wustl.edu	37	2	69723196	69723196	+	Silent	SNP	A	A	C	rs373791405		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:69723196A>C	ENST00000409085.4	-	17	2662	c.2286T>G	c.(2284-2286)ggT>ggG	p.G762G	AAK1_ENST00000406297.3_Silent_p.G762G|AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	762					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						CAGTCTGCCCACCCTTCCTTT	0.463																																						dbGAP											0													56.0	62.0	60.0					2																	69723196		1892	4068	5960	-	-	-	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.2286T>G	2.37:g.69723196A>C			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.G762	ENST00000409085.4	37	c.2286	CCDS1893.2	2																																																																																			AAK1	-	NULL	ENSG00000115977		0.463	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	219	0.90	2	A	NM_014911		69723196	69723196	-1	no_errors	ENST00000409085	ensembl	human	known	69_37n	silent	130	11.56	17	SNP	1.000	C
AAK1	22848	genome.wustl.edu	37	2	69747979	69747979	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:69747979T>G	ENST00000409085.4	-	11	1573	c.1197A>C	c.(1195-1197)ccA>ccC	p.P399P	AAK1_ENST00000406297.3_Silent_p.P399P|AAK1_ENST00000409068.1_Silent_p.P399P|SNORA36C_ENST00000384289.1_RNA	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	399	Gln-rich.				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						CAGCCTGAGGTGGGGGCTGAA	0.537																																						dbGAP											0													135.0	147.0	143.0					2																	69747979		1932	4149	6081	-	-	-	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.1197A>C	2.37:g.69747979T>G			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.P399	ENST00000409085.4	37	c.1197	CCDS1893.2	2																																																																																			AAK1	-	NULL	ENSG00000115977		0.537	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	265	0.74	2	T	NM_014911		69747979	69747979	-1	no_errors	ENST00000409085	ensembl	human	known	69_37n	silent	185	13.89	30	SNP	0.993	G
AASS	10157	genome.wustl.edu	37	7	121717922	121717922	+	Missense_Mutation	SNP	T	T	G	rs149105850		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:121717922T>G	ENST00000393376.1	-	22	2727	c.2632A>C	c.(2632-2634)Acc>Ccc	p.T878P	AASS_ENST00000417368.2_Missense_Mutation_p.T878P|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	878	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						GCCATGGCGGTGGGTAACCCC	0.463																																						dbGAP											0													157.0	162.0	160.0					7																	121717922		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.2632A>C	7.37:g.121717922T>G	ENSP00000377040:p.Thr878Pro		O95462	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.T878P	ENST00000393376.1	37	c.2632	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849245	0.71603	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	T;T	0.46063	0.88;0.88	5.56	4.43	0.53597	.	0.142736	0.64402	D	0.000005	T	0.35068	0.0919	L	0.42686	1.345	0.47819	D	0.999529	B	0.13594	0.008	B	0.19946	0.027	T	0.26189	-1.0110	10	0.62326	D	0.03	-24.3203	9.8491	0.41046	0.0:0.112:0.0:0.888	.	878	Q9UDR5	AASS_HUMAN	P	878	ENSP00000377040:T878P;ENSP00000403768:T878P	ENSP00000377040:T878P	T	-	1	0	AASS	121505158	0.914000	0.31030	0.168000	0.22838	0.884000	0.51177	1.443000	0.35057	2.113000	0.64589	0.477000	0.44152	ACC	AASS	-	pfam_Saccharopine_DH/HSpermid_syn	ENSG00000008311		0.463	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1	132	0.00	0	T	NM_005763		121717922	121717922	-1	no_errors	ENST00000393376	ensembl	human	known	69_37n	missense	80	27.03	30	SNP	0.859	G
AATF	26574	genome.wustl.edu	37	17	35413936	35413936	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:35413936A>C	ENST00000225402.5	+	12	1906	c.1655A>C	c.(1654-1656)cAc>cCc	p.H552P	AATF_ENST00000590321.1_3'UTR	NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	552					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GGCCAGCTCCACCCTCCCGAC	0.552																																					NSCLC(49;901 1159 19183 41572 46244)	dbGAP											0													163.0	141.0	149.0					17																	35413936		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1655A>C	17.37:g.35413936A>C	ENSP00000225402:p.His552Pro		A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	pfam_AATF_C	p.H552P	ENST00000225402.5	37	c.1655	CCDS32632.1	17	.	.	.	.	.	.	.	.	.	.	A	3.925	-0.017425	0.07681	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.63	0.585	0.17428	.	0.859692	0.10806	N	0.632167	T	0.12135	0.0295	N	0.01576	-0.805	0.09310	N	1	B	0.14012	0.009	B	0.17433	0.018	T	0.29488	-1.0010	9	0.26408	T	0.33	-2.7244	4.9861	0.14190	0.5766:0.1534:0.27:0.0	.	552	Q9NY61	AATF_HUMAN	P	552	.	ENSP00000225402:H552P	H	+	2	0	AATF	32488049	0.000000	0.05858	0.261000	0.24466	0.220000	0.24768	-0.163000	0.09997	0.429000	0.26202	0.482000	0.46254	CAC	AATF	-	NULL	ENSG00000108270		0.552	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATF	HGNC	protein_coding	OTTHUMT00000451543.1	191	0.52	1	A	NM_012138		35413936	35413936	+1	no_errors	ENST00000225402	ensembl	human	known	69_37n	missense	279	15.62	52	SNP	0.001	C
AATF	26574	genome.wustl.edu	37	17	35414128	35414128	+	3'UTR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:35414128A>C	ENST00000225402.5	+	0	2098				AATF_ENST00000590321.1_3'UTR	NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor						apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GTCCCGCCCAACCCCGCCTTT	0.522																																					NSCLC(49;901 1159 19183 41572 46244)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.*164A>C	17.37:g.35414128A>C			A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	RNA	SNP	-	NULL	ENST00000225402.5	37	NULL	CCDS32632.1	17																																																																																			AATF	-	-	ENSG00000108270		0.522	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATF	HGNC	protein_coding	OTTHUMT00000451543.1	37	0.00	0	A	NM_012138		35414128	35414128	+1	no_errors	ENST00000587618	ensembl	human	putative	69_37n	rna	17	32.00	8	SNP	0.000	C
ABCA1	19	genome.wustl.edu	37	9	107593278	107593278	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:107593278A>C	ENST00000374736.3	-	14	2214	c.1820T>G	c.(1819-1821)gTg>gGg	p.V607G	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	607					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCCCGTCAGCACCCTGATGAT	0.537																																						dbGAP											0													194.0	165.0	175.0					9																	107593278		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1820T>G	9.37:g.107593278A>C	ENSP00000363868:p.Val607Gly		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V607G	ENST00000374736.3	37	c.1820	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	A	14.11	2.436145	0.43224	.	.	ENSG00000165029	ENST00000374736	D	0.95272	-3.66	5.93	4.81	0.61882	.	0.285663	0.38837	N	0.001549	D	0.94686	0.8286	M	0.79926	2.475	0.80722	D	1	B	0.26318	0.146	B	0.39339	0.297	D	0.93073	0.6484	10	0.49607	T	0.09	.	8.8541	0.35217	0.8529:0.0:0.1471:0.0	.	607	O95477	ABCA1_HUMAN	G	607	ENSP00000363868:V607G	ENSP00000363868:V607G	V	-	2	0	ABCA1	106633099	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	5.231000	0.65327	2.271000	0.75665	0.459000	0.35465	GTG	ABCA1	-	NULL	ENSG00000165029		0.537	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	112	0.00	0	A	NM_005502		107593278	107593278	-1	no_errors	ENST00000374736	ensembl	human	known	69_37n	missense	96	16.52	19	SNP	0.999	C
ABCA7	10347	genome.wustl.edu	37	19	1057019	1057019	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:1057019A>C	ENST00000263094.6	+	34	4931	c.4700A>C	c.(4699-4701)cAc>cCc	p.H1567P	ABCA7_ENST00000433129.1_Missense_Mutation_p.H1567P|ABCA7_ENST00000435683.2_Missense_Mutation_p.H1429P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1567					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		CGAGCCAAGCACCTGCAGCTC	0.627																																						dbGAP											0													90.0	76.0	80.0					19																	1057019		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.4700A>C	19.37:g.1057019A>C	ENSP00000263094:p.His1567Pro		Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H1567P	ENST00000263094.6	37	c.4700	CCDS12055.1	19	.	.	.	.	.	.	.	.	.	.	A	18.30	3.592756	0.66219	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.88586	-2.4;-2.4	3.85	2.82	0.32997	.	.	.	.	.	D	0.95033	0.8392	M	0.93594	3.435	0.35307	D	0.783535	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95648	0.8704	9	0.87932	D	0	.	9.3035	0.37861	0.8182:0.1818:0.0:0.0	.	692;1567	D6W5Y0;Q8IZY2	.;ABCA7_HUMAN	P	1567	ENSP00000263094:H1567P;ENSP00000414062:H1567P	ENSP00000263094:H1567P	H	+	2	0	ABCA7	1008019	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	8.894000	0.92506	0.529000	0.28599	0.459000	0.35465	CAC	ABCA7	-	NULL	ENSG00000064687		0.627	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	120	0.82	1	A	NM_019112		1057019	1057019	+1	no_errors	ENST00000263094	ensembl	human	known	69_37n	missense	84	18.45	19	SNP	1.000	C
ABCA8	10351	genome.wustl.edu	37	17	66871835	66871835	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:66871835A>C	ENST00000269080.2	-	34	4427	c.4290T>G	c.(4288-4290)ggT>ggG	p.G1430G	ABCA8_ENST00000430352.2_Silent_p.G1470G|ABCA8_ENST00000586539.1_Silent_p.G1470G	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1430	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.		G -> S (in dbSNP:rs35403175).		transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTAGGAGGGCACCCCTTTCCG	0.507																																						dbGAP											0													86.0	67.0	73.0					17																	66871835		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4290T>G	17.37:g.66871835A>C			A1L3U3|C9JQE6|Q86WW0	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G1470	ENST00000269080.2	37	c.4410	CCDS11680.1	17																																																																																			ABCA8	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000141338		0.507	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	119	0.00	0	A	NM_007168		66871835	66871835	-1	no_errors	ENST00000430352	ensembl	human	known	69_37n	silent	87	17.14	18	SNP	0.131	C
ABCA8	10351	genome.wustl.edu	37	17	66872767	66872767	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:66872767A>C	ENST00000269080.2	-	32	4293		c.e32+1		ABCA8_ENST00000430352.2_Splice_Site|ABCA8_ENST00000586539.1_Splice_Site	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CCCTGCCCGTACCTTTCTCTT	0.537																																						dbGAP											0													147.0	123.0	131.0					17																	66872767		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.4155+1T>G	17.37:g.66872767A>C			A1L3U3|C9JQE6|Q86WW0	Splice_Site	SNP	-	e32+2	ENST00000269080.2	37	c.4275+2	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	A	10.76	1.442333	0.25987	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6637	0.28417	0.8111:0.0:0.0:0.1888	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA8	64384362	1.000000	0.71417	0.949000	0.38748	0.254000	0.26022	4.180000	0.58296	1.751000	0.51876	0.533000	0.62120	.	ABCA8	-	-	ENSG00000141338		0.537	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	173	0.00	0	A	NM_007168	Intron	66872767	66872767	-1	no_errors	ENST00000430352	ensembl	human	known	69_37n	splice_site	178	10.40	21	SNP	0.993	C
ABCC1	4363	genome.wustl.edu	37	16	16138369	16138369	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:16138369T>G	ENST00000399410.3	+	8	1047	c.872T>G	c.(871-873)gTg>gGg	p.V291G	ABCC1_ENST00000351154.5_Missense_Mutation_p.V291G|ABCC1_ENST00000346370.5_Missense_Mutation_p.V291G|ABCC1_ENST00000349029.5_Missense_Mutation_p.V291G|ABCC1_ENST00000399408.2_Missense_Mutation_p.V291G|ABCC1_ENST00000345148.5_Missense_Mutation_p.V291G	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	291					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	AGTTCCAAGGTGGATGCGAAT	0.552																																						dbGAP											0													106.0	106.0	106.0					16																	16138369		2026	4188	6214	-	-	-	SO:0001583	missense	0			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.872T>G	16.37:g.16138369T>G	ENSP00000382342:p.Val291Gly		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.V291G	ENST00000399410.3	37	c.872	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	t	2.879	-0.232193	0.05983	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	D;T;D;D;D;D	0.90133	-2.62;0.91;-2.27;-2.42;-2.57;-2.48	5.0	2.44	0.29823	.	1.294260	0.05359	N	0.533273	T	0.81654	0.4868	L	0.28274	0.84	0.30793	N	0.740721	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.0;0.001;0.001	T	0.69899	-0.5020	10	0.16420	T	0.52	-4.8422	1.4912	0.02457	0.1391:0.1166:0.2875:0.4568	.	291;291;291;291;291;291;291	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	G	291	ENSP00000382342:V291G;ENSP00000382340:V291G;ENSP00000263019:V291G;ENSP00000263017:V291G;ENSP00000263014:V291G;ENSP00000263016:V291G	ENSP00000263014:V291G	V	+	2	0	ABCC1	16045870	0.471000	0.25862	0.911000	0.35937	0.074000	0.17049	0.061000	0.14366	0.847000	0.35167	0.444000	0.29173	GTG	ABCC1	-	tigrfam_Multidrug-R_assoc	ENSG00000103222		0.552	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	192	0.52	1	T	NM_004996		16138369	16138369	+1	no_errors	ENST00000399408	ensembl	human	known	69_37n	missense	240	11.36	31	SNP	0.811	G
ABCC11	85320	genome.wustl.edu	37	16	48210907	48210907	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:48210907T>G	ENST00000394747.1	-	24	3815	c.3466A>C	c.(3466-3468)Acc>Ccc	p.T1156P	ABCC11_ENST00000394748.1_Missense_Mutation_p.T1156P|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1156P|ABCC11_ENST00000353782.5_Missense_Mutation_p.T1156P	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1156	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TGAAGCACGGTGGGTGTGTTG	0.562																																						dbGAP											0													188.0	150.0	163.0					16																	48210907		2201	4300	6501	-	-	-	SO:0001583	missense	0			AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.3466A>C	16.37:g.48210907T>G	ENSP00000378230:p.Thr1156Pro		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.T1156P	ENST00000394747.1	37	c.3466	CCDS10732.1	16	.	.	.	.	.	.	.	.	.	.	T	7.614	0.675319	0.14841	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	5.34	-3.07	0.05363	ABC transporter-like (1);	0.280826	0.30879	N	0.008698	T	0.53400	0.1794	N	0.00493	-1.44	0.20403	N	0.999904	P;B	0.37864	0.61;0.0	B;B	0.30943	0.122;0.0	T	0.66814	-0.5828	10	0.34782	T	0.22	-3.4665	0.6786	0.00871	0.24:0.2047:0.3336:0.2217	.	1156;1156	Q96J66-2;Q96J66	.;ABCCB_HUMAN	P	1156	ENSP00000311326:T1156P;ENSP00000349017:T1156P;ENSP00000378231:T1156P;ENSP00000378230:T1156P	ENSP00000311326:T1156P	T	-	1	0	ABCC11	46768408	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-0.608000	0.05641	-0.930000	0.03752	-0.366000	0.07423	ACC	ABCC11	-	pfscan_ABC_transporter-like	ENSG00000121270		0.562	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABCC11	HGNC	protein_coding	OTTHUMT00000429984.1	156	0.63	1	T	NM_032583		48210907	48210907	-1	no_errors	ENST00000356608	ensembl	human	known	69_37n	missense	79	20.20	20	SNP	0.000	G
ABCC4	10257	genome.wustl.edu	37	13	95735507	95735507	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:95735507A>C	ENST00000376887.4	-	21	2687	c.2573T>G	c.(2572-2574)gTg>gGg	p.V858G	ABCC4_ENST00000412704.1_Missense_Mutation_p.V811G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	858	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AATCACGGCCACAGCCACAGA	0.418																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.2573T>G	13.37:g.95735507A>C	ENSP00000366084:p.Val858Gly		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	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,prints_CysFib_conduc_TM	p.V858G	ENST00000376887.4	37	c.2573	CCDS9474.1	13	.	.	.	.	.	.	.	.	.	.	A	7.613	0.675141	0.14841	.	.	ENSG00000125257	ENST00000412704;ENST00000376887	D;D	0.90133	-2.62;-2.62	5.42	3.01	0.34805	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.468940	0.23902	N	0.043432	D	0.82563	0.5064	L	0.28776	0.89	0.27007	N	0.964775	B;B	0.06786	0.001;0.001	B;B	0.15052	0.007;0.012	T	0.68311	-0.5442	10	0.27082	T	0.32	.	8.3361	0.32215	0.828:0.0:0.172:0.0	.	811;858	O15439-2;O15439	.;MRP4_HUMAN	G	811;858	ENSP00000388657:V811G;ENSP00000366084:V858G	ENSP00000366084:V858G	V	-	2	0	ABCC4	94533508	0.879000	0.30193	0.010000	0.14722	0.842000	0.47809	3.811000	0.55620	0.443000	0.26582	0.533000	0.62120	GTG	ABCC4	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1	ENSG00000125257		0.418	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	217	0.46	1	A	NM_005845		95735507	95735507	-1	no_errors	ENST00000376887	ensembl	human	known	69_37n	missense	129	14.00	21	SNP	0.123	C
ABCC5	10057	genome.wustl.edu	37	3	183705620	183705620	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:183705620T>G	ENST00000334444.6	-	5	769	c.529A>C	c.(529-531)Acc>Ccc	p.T177P	ABCC5_ENST00000382494.2_Missense_Mutation_p.T177P|ABCC5_ENST00000265586.6_Missense_Mutation_p.T177P|ABCC5_ENST00000427120.2_Missense_Mutation_p.T177P|ABCC5_ENST00000392579.2_Missense_Mutation_p.T177P	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	177					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)	ATGAGCCTGGTGCGGCAGAAG	0.552																																						dbGAP											0													211.0	157.0	175.0					3																	183705620		2203	4300	6503	-	-	-	SO:0001583	missense	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.529A>C	3.37:g.183705620T>G	ENSP00000333926:p.Thr177Pro		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	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.T177P	ENST00000334444.6	37	c.529	CCDS43176.1	3	.	.	.	.	.	.	.	.	.	.	T	29.5	5.009840	0.93346	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586;ENST00000427120;ENST00000392579;ENST00000382494	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.99	5.99	0.97316	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.72036	0.3411	M	0.85630	2.765	0.80722	D	1	D;D;D;D;B	0.89917	1.0;1.0;1.0;1.0;0.37	D;D;D;D;B	0.91635	0.999;0.999;0.993;0.999;0.214	T	0.73052	-0.4104	10	0.36615	T	0.2	-30.0835	16.4869	0.84187	0.0:0.0:0.0:1.0	.	177;177;177;177;177	A5PKY6;Q29ZA9;Q86UX3;Q86W30;O15440	.;.;.;.;MRP5_HUMAN	P	177;113;177;177;177;177	ENSP00000333926:T177P;ENSP00000265586:T177P;ENSP00000404809:T177P;ENSP00000376358:T177P;ENSP00000371934:T177P	ENSP00000265586:T177P	T	-	1	0	ABCC5	185188314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.255000	0.72466	2.291000	0.77112	0.523000	0.50628	ACC	ABCC5	-	superfamily_ABC_transptrTM_dom_typ1	ENSG00000114770		0.552	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC5	HGNC	protein_coding	OTTHUMT00000346350.1	166	0.00	0	T	NM_005688		183705620	183705620	-1	no_errors	ENST00000334444	ensembl	human	known	69_37n	missense	149	14.20	25	SNP	1.000	G
ABCG4	64137	genome.wustl.edu	37	11	119027364	119027364	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:119027364A>C	ENST00000449422.2	+	8	1089	c.901A>C	c.(901-903)Acc>Ccc	p.T301P	ABCG4_ENST00000307417.3_Missense_Mutation_p.T301P|ABCG4_ENST00000531739.1_Missense_Mutation_p.T301P	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	301	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCATTGCCCCACCTACCACAA	0.587																																						dbGAP											0													91.0	86.0	88.0					11																	119027364		2200	4295	6495	-	-	-	SO:0001583	missense	0			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.901A>C	11.37:g.119027364A>C	ENSP00000406874:p.Thr301Pro		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T301P	ENST00000449422.2	37	c.901	CCDS8415.1	11	.	.	.	.	.	.	.	.	.	.	A	25.8	4.674439	0.88445	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.42900	0.96;0.96;0.96	5.74	5.74	0.90152	ABC transporter-like (1);	0.043509	0.85682	D	0.000000	T	0.25195	0.0612	N	0.02539	-0.55	0.80722	D	1	D	0.56035	0.974	P	0.45913	0.497	T	0.27468	-1.0073	10	0.30854	T	0.27	-33.9224	16.0441	0.80707	1.0:0.0:0.0:0.0	.	301	Q9H172	ABCG4_HUMAN	P	301	ENSP00000304111:T301P;ENSP00000406874:T301P;ENSP00000434318:T301P	ENSP00000304111:T301P	T	+	1	0	ABCG4	118532574	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.954000	0.93051	2.177000	0.69029	0.533000	0.62120	ACC	ABCG4	-	pfscan_ABC_transporter-like	ENSG00000172350		0.587	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ABCG4	HGNC	protein_coding	OTTHUMT00000388215.1	98	1.00	1	A	NM_022169		119027364	119027364	+1	no_errors	ENST00000307417	ensembl	human	known	69_37n	missense	74	23.71	23	SNP	1.000	C
ABHD1	84696	genome.wustl.edu	37	2	27351322	27351322	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:27351322T>G	ENST00000316470.4	+	2	242	c.128T>G	c.(127-129)gTg>gGg	p.V43G		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	43						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCGGCTGGTGGCTGGGCCG	0.597																																						dbGAP											0													95.0	100.0	98.0					2																	27351322		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.128T>G	2.37:g.27351322T>G	ENSP00000326491:p.Val43Gly		B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.V43G	ENST00000316470.4	37	c.128	CCDS1736.1	2	.	.	.	.	.	.	.	.	.	.	T	14.95	2.688934	0.48097	.	.	ENSG00000143994	ENST00000316470	T	0.16196	2.36	4.91	3.76	0.43208	.	0.163051	0.39407	N	0.001374	T	0.38453	0.1041	M	0.79926	2.475	0.48762	D	0.999703	D	0.69078	0.997	D	0.71414	0.973	T	0.17048	-1.0382	10	0.87932	D	0	-24.7453	7.2331	0.26053	0.0:0.0987:0.0:0.9013	.	43	Q96SE0	ABHD1_HUMAN	G	43	ENSP00000326491:V43G	ENSP00000326491:V43G	V	+	2	0	ABHD1	27204826	1.000000	0.71417	0.993000	0.49108	0.408000	0.30992	4.124000	0.57924	0.899000	0.36444	-0.379000	0.06801	GTG	ABHD1	-	pirsf_AB-Hydro_YheT	ENSG00000143994		0.597	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD1	HGNC	protein_coding	OTTHUMT00000214188.1	206	0.48	1	T	NM_032604		27351322	27351322	+1	no_errors	ENST00000316470	ensembl	human	known	69_37n	missense	162	12.83	24	SNP	1.000	G
ABHD11	83451	genome.wustl.edu	37	7	73152301	73152301	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:73152301T>G	ENST00000222800.3	-	3	358				ABHD11_ENST00000395147.4_Intron|LINC00035_ENST00000427153.1_RNA|ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000468998.1_5'UTR|ABHD11_ENST00000437775.2_Intron	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11							mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGGCTGGGTGGCAATCTCG	0.587																																						dbGAP											0													53.0	58.0	56.0					7																	73152301		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.289-236A>C	7.37:g.73152301T>G			H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	RNA	SNP	-	NULL	ENST00000222800.3	37	NULL	CCDS5558.1	7																																																																																			ABHD11	-	-	ENSG00000106077		0.587	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD11	HGNC	protein_coding	OTTHUMT00000252306.1	104	0.93	1	T			73152301	73152301	-1	no_errors	ENST00000468998	ensembl	human	known	69_37n	rna	49	28.99	20	SNP	0.000	G
ABR	29	genome.wustl.edu	37	17	953811	953811	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:953811A>C	ENST00000302538.5	-	15	1771	c.1625T>G	c.(1624-1626)gTg>gGg	p.V542G	ABR_ENST00000544583.2_Missense_Mutation_p.V496G|ABR_ENST00000574437.1_Missense_Mutation_p.V496G|ABR_ENST00000536794.2_Missense_Mutation_p.V324G|ABR_ENST00000291107.2_Missense_Mutation_p.V505G	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	542	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GTCCCGGAACACCCTGGTTTT	0.597																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	dbGAP											0													119.0	104.0	109.0					17																	953811		2203	4300	6503	-	-	-	SO:0001583	missense	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.1625T>G	17.37:g.953811A>C	ENSP00000303909:p.Val542Gly		B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain	p.V542G	ENST00000302538.5	37	c.1625	CCDS10999.1	17	.	.	.	.	.	.	.	.	.	.	A	16.14	3.038651	0.55003	.	.	ENSG00000159842	ENST00000302538;ENST00000544583;ENST00000291107;ENST00000536794	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	4.73	4.73	0.59995	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.068155	0.64402	D	0.000020	D	0.84142	0.5407	M	0.73962	2.25	0.80722	D	1	P;P;P	0.50819	0.928;0.939;0.635	P;B;P	0.55260	0.772;0.391;0.597	D	0.86553	0.1836	10	0.87932	D	0	.	13.5616	0.61793	1.0:0.0:0.0:0.0	.	324;505;542	B7Z683;Q12979-2;Q12979	.;.;ABR_HUMAN	G	542;496;505;324	ENSP00000303909:V542G;ENSP00000442048:V496G;ENSP00000291107:V505G;ENSP00000437429:V324G	ENSP00000291107:V505G	V	-	2	0	ABR	900561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.058000	0.64300	1.983000	0.57843	0.459000	0.35465	GTG	ABR	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000159842		0.597	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	166	0.00	0	A			953811	953811	-1	no_errors	ENST00000302538	ensembl	human	known	69_37n	missense	103	15.57	19	SNP	1.000	C
ACACA	31	genome.wustl.edu	37	17	35604997	35604997	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:35604997A>C	ENST00000394406.2	-	18	2326	c.2136T>G	c.(2134-2136)ggT>ggG	p.G712G	ACACA_ENST00000360679.3_Silent_p.G654G|ACACA_ENST00000353139.5_Silent_p.G749G|ACACA_ENST00000335166.5_Silent_p.G634G	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	712					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)	AGAGCAGTCCACCGTCACTCA	0.473																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	dbGAP											0													177.0	138.0	151.0					17																	35604997		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.2136T>G	17.37:g.35604997A>C			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.G749	ENST00000394406.2	37	c.2247	CCDS11317.1	17																																																																																			ACACA	-	NULL	ENSG00000132142		0.473	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACA	HGNC	protein_coding	OTTHUMT00000256696.1	151	0.00	0	A	NM_198836		35604997	35604997	-1	no_errors	ENST00000353139	ensembl	human	known	69_37n	silent	170	11.92	23	SNP	1.000	C
ACACB	32	genome.wustl.edu	37	12	109690861	109690861	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:109690861T>G	ENST00000338432.7	+	43	6062	c.5943T>G	c.(5941-5943)ggT>ggG	p.G1981G	ACACB_ENST00000377854.5_Silent_p.G1911G|ACACB_ENST00000377848.3_Silent_p.G1981G|ACACB_ENST00000543201.1_Silent_p.G647G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1981	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ACCAGCTGGGTGGCGTTCAGA	0.517																																						dbGAP											0													325.0	258.0	281.0					12																	109690861		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5943T>G	12.37:g.109690861T>G			A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	pfam_Carboxyl_trans,pfam_AcCoA_COase_cen,pfscan_COA_CT_N,pfscan_COA_CT_C	p.W648G	ENST00000338432.7	37	c.1942	CCDS31898.1	12																																																																																			ACACB	-	pfam_Carboxyl_trans,pfscan_COA_CT_N	ENSG00000076555		0.517	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	HGNC	protein_coding	OTTHUMT00000403077.1	149	0.00	0	T	NM_001093		109690861	109690861	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000538526	ensembl	human	known	69_37n	missense	136	15.43	25	SNP	0.486	G
ACADS	35	genome.wustl.edu	37	12	121175726	121175726	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:121175726A>C	ENST00000242592.4	+	5	710	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	ACADS_ENST00000411593.2_Intron|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	187					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	AGCCTGGATCACCAATGCCTG	0.637																																						dbGAP											0													65.0	65.0	65.0					12																	121175726		2203	4300	6503	-	-	-	SO:0001583	missense	0			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.559A>C	12.37:g.121175726A>C	ENSP00000242592:p.Thr187Pro		P78331	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.T187P	ENST00000242592.4	37	c.559	CCDS9207.1	12	.	.	.	.	.	.	.	.	.	.	A	28.5	4.924847	0.92319	.	.	ENSG00000122971	ENST00000242592	D	0.99353	-5.77	4.95	4.95	0.65309	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99423	0.9796	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.98648	1.0678	10	0.66056	D	0.02	.	14.6059	0.68478	1.0:0.0:0.0:0.0	.	187;187	E5KSD5;P16219	.;ACADS_HUMAN	P	187	ENSP00000242592:T187P	ENSP00000242592:T187P	T	+	1	0	ACADS	119660109	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	8.900000	0.92551	1.855000	0.53841	0.379000	0.24179	ACC	ACADS	-	pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase	ENSG00000122971		0.637	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	HGNC	protein_coding	OTTHUMT00000402861.1	56	0.00	0	A	NM_000017		121175726	121175726	+1	no_errors	ENST00000242592	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	1.000	C
ACAN	176	genome.wustl.edu	37	15	89388737	89388737	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:89388737T>G	ENST00000561243.1	+	6	1053	c.1053T>G	c.(1051-1053)ggT>ggG	p.G351G	ACAN_ENST00000559004.1_Splice_Site_p.G351G|ACAN_ENST00000439576.2_Splice_Site_p.G351G|ACAN_ENST00000558207.1_Splice_Site_p.G351G|ACAN_ENST00000352105.7_Splice_Site_p.G351G			P16112	PGCA_HUMAN	aggrecan	351					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTCCCCTAGGTGAAGACTTTG	0.592																																						dbGAP											0													35.0	39.0	38.0					15																	89388737		1993	4189	6182	-	-	-	SO:0001630	splice_region_variant	0			M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1052-1T>G	15.37:g.89388737T>G			Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.G351	ENST00000561243.1	37	c.1053	CCDS53970.1	15																																																																																			ACAN	-	superfamily_C-type_lectin_fold	ENSG00000157766		0.592	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	HGNC	protein_coding	OTTHUMT00000416267.2	46	0.00	0	T	NM_001135	Silent	89388737	89388737	+1	no_errors	ENST00000439576	ensembl	human	known	69_37n	silent	18	20.83	5	SNP	1.000	G
ACCSL	390110	genome.wustl.edu	37	11	44072135	44072135	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:44072135A>C	ENST00000378832.1	+	3	654	c.598A>C	c.(598-600)Acc>Ccc	p.T200P		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	200					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CATTGAGGACACCTTGCTTCA	0.478																																						dbGAP											0													202.0	202.0	202.0					11																	44072135		1985	4175	6160	-	-	-	SO:0001583	missense	0				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.598A>C	11.37:g.44072135A>C	ENSP00000368109:p.Thr200Pro			Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase	p.T200P	ENST00000378832.1	37	c.598	CCDS41636.1	11	.	.	.	.	.	.	.	.	.	.	A	5.907	0.351371	0.11182	.	.	ENSG00000205126	ENST00000378832	D	0.90900	-2.75	5.08	-5.12	0.02893	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	1.500940	0.03479	N	0.214842	T	0.71358	0.3330	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61724	-0.7004	10	0.30854	T	0.27	0.5467	0.5217	0.00613	0.2253:0.2832:0.1712:0.3202	.	200	Q4AC99	1A1L2_HUMAN	P	200	ENSP00000368109:T200P	ENSP00000368109:T200P	T	+	1	0	ACCSL	44028711	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.298000	0.02756	-0.511000	0.06514	-0.859000	0.03014	ACC	ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000205126		0.478	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	191	0.52	1	A	NM_001031854		44072135	44072135	+1	no_errors	ENST00000378832	ensembl	human	known	69_37n	missense	134	16.15	26	SNP	0.000	C
ACCS	84680	genome.wustl.edu	37	11	44098953	44098953	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:44098953A>C	ENST00000263776.8	+	7	1088				ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)						biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						CCTAGGTGGAACCTGGGCCTG	0.542																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	dbGAP											0													69.0	64.0	65.0					11																	44098953		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.654+27A>C	11.37:g.44098953A>C			B4E219|Q8WUL4|Q96LX5	RNA	SNP	-	NULL	ENST00000263776.8	37	NULL	CCDS7907.1	11																																																																																			ACCS	-	-	ENSG00000110455		0.542	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCS	HGNC	protein_coding	OTTHUMT00000389721.1	50	0.00	0	A	NM_032592		44098953	44098953	+1	no_errors	ENST00000533208	ensembl	human	known	69_37n	rna	50	24.24	16	SNP	0.000	C
ACE2	59272	genome.wustl.edu	37	X	15591571	15591571	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:15591571A>C	ENST00000252519.3	-	11	1562	c.1460T>G	c.(1459-1461)gTg>gGg	p.V487G	ACE2_ENST00000427411.1_Missense_Mutation_p.V487G			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	487					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	AGGTTCCACCACCCCAACTAT	0.443																																						dbGAP											0													146.0	124.0	131.0					X																	15591571		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.1460T>G	X.37:g.15591571A>C	ENSP00000252519:p.Val487Gly		C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.V487G	ENST00000252519.3	37	c.1460	CCDS14169.1	X	.	.	.	.	.	.	.	.	.	.	A	23.5	4.423201	0.83559	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.36878	1.23;1.23	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.72277	0.3440	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82157	-0.0596	10	0.87932	D	0	-23.1882	15.0142	0.71570	1.0:0.0:0.0:0.0	.	487	Q9BYF1	ACE2_HUMAN	G	487	ENSP00000252519:V487G;ENSP00000389326:V487G	ENSP00000252519:V487G	V	-	2	0	ACE2	15501492	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.659000	0.91116	1.928000	0.55862	0.486000	0.48141	GTG	ACE2	-	pfam_Peptidase_M2,prints_Peptidase_M2	ENSG00000130234		0.443	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE2	HGNC	protein_coding	OTTHUMT00000055867.1	143	0.69	1	A			15591571	15591571	-1	no_errors	ENST00000252519	ensembl	human	known	69_37n	missense	134	10.53	16	SNP	1.000	C
ACIN1	22985	genome.wustl.edu	37	14	23532180	23532180	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:23532180T>G	ENST00000262710.1	-	14	3342	c.3015A>C	c.(3013-3015)ccA>ccC	p.P1005P	ACIN1_ENST00000605057.1_Silent_p.P947P|ACIN1_ENST00000555053.1_Silent_p.P992P|ACIN1_ENST00000357481.2_Silent_p.P247P|ACIN1_ENST00000557515.1_Silent_p.P246P|ACIN1_ENST00000338631.6_Silent_p.P278P|ACIN1_ENST00000457657.1_Silent_p.P965P|ACIN1_ENST00000397341.3_Silent_p.P247P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1005					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGCCCCGGGGTGGGGAGGGCA	0.488																																						dbGAP											0													131.0	124.0	126.0					14																	23532180		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3015A>C	14.37:g.23532180T>G			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.P1005	ENST00000262710.1	37	c.3015	CCDS9587.1	14																																																																																			ACIN1	-	NULL	ENSG00000100813		0.488	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	152	0.00	0	T	NM_014977		23532180	23532180	-1	no_errors	ENST00000262710	ensembl	human	known	69_37n	silent	140	14.02	23	SNP	0.614	G
ACLY	47	genome.wustl.edu	37	17	40042517	40042517	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:40042517A>C	ENST00000352035.2	-	18	2050	c.1920T>G	c.(1918-1920)ggT>ggG	p.G640G	ACLY_ENST00000393896.2_Silent_p.G630G|ACLY_ENST00000590151.1_Silent_p.G640G|ACLY_ENST00000537919.1_Silent_p.G369G|ACLY_ENST00000353196.1_Silent_p.G630G	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	640					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CCAGCATCCCACCTGTGTTGC	0.542																																					Colon(64;807 1396 15971 30971)	dbGAP											0													117.0	85.0	96.0					17																	40042517		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.1920T>G	17.37:g.40042517A>C			B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase	p.G640	ENST00000352035.2	37	c.1920	CCDS11412.1	17																																																																																			ACLY	-	superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase	ENSG00000131473		0.542	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACLY	HGNC	protein_coding	OTTHUMT00000257465.1	120	0.00	0	A	NM_001096		40042517	40042517	-1	no_errors	ENST00000352035	ensembl	human	known	69_37n	silent	76	18.28	17	SNP	0.145	C
ACOT1	641371	genome.wustl.edu	37	14	74008280	74008280	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:74008280A>G	ENST00000311148.4	+	2	849	c.541A>G	c.(541-543)Aag>Gag	p.K181E	HEATR4_ENST00000553558.1_Intron|ACOT1_ENST00000557556.1_Missense_Mutation_p.K181E|HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	181					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GCTGGCTGGGAAGGGTTTTGC	0.512																																						dbGAP											0													200.0	154.0	170.0					14																	74008280		1980	3587	5567	-	-	-	SO:0001583	missense	0			DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"""Acyl CoA thioesterases"""	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.541A>G	14.37:g.74008280A>G	ENSP00000311224:p.Lys181Glu		A1L173|Q3I5F9	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain	p.K181E	ENST00000311148.4	37	c.541	CCDS32117.1	14	.	.	.	.	.	.	.	.	.	.	-	6.264	0.416779	0.11870	.	.	ENSG00000184227	ENST00000311148;ENST00000557556	T;T	0.41758	0.99;0.99	3.61	-0.755	0.11061	.	0.525502	0.22150	N	0.063937	T	0.27098	0.0664	L	0.39020	1.185	0.09310	N	1	B;B	0.34372	0.451;0.451	B;B	0.30716	0.119;0.119	T	0.17289	-1.0374	10	0.62326	D	0.03	-21.8411	8.373	0.32425	0.3761:0.5112:0.0:0.1127	.	181;181	E9KL42;Q86TX2	.;ACOT1_HUMAN	E	181	ENSP00000311224:K181E;ENSP00000451764:K181E	ENSP00000311224:K181E	K	+	1	0	ACOT1	73078033	0.000000	0.05858	0.960000	0.40013	0.035000	0.12851	-0.205000	0.09411	0.098000	0.17522	-0.836000	0.03065	AAG	ACOT1	-	pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000184227		0.512	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT1	HGNC	protein_coding	OTTHUMT00000414432.1	238	0.83	2	A	NM_001037161		74008280	74008280	+1	no_errors	ENST00000311148	ensembl	human	known	69_37n	missense	223	13.18	34	SNP	0.001	G
ACOT2	10965	genome.wustl.edu	37	14	74040175	74040175	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:74040175A>G	ENST00000238651.5	+	2	909	c.727A>G	c.(727-729)Aag>Gag	p.K243E	ACOT2_ENST00000538782.1_Missense_Mutation_p.K46E	NM_006821.5	NP_006812.3	P49753	ACOT2_HUMAN	acyl-CoA thioesterase 2	243					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		GCTGGCTGGGAAGGGTTTTGC	0.507																																						dbGAP											0													258.0	199.0	219.0					14																	74040175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY005822, AK001939	CCDS9816.1	14q24.3	2013-09-20			ENSG00000119673	ENSG00000119673		"""Acyl CoA thioesterases"""	18431	protein-coding gene	gene with protein product	"""mitochondrial acyl-CoA thioesterase 1"""	609972				16103133, 16940157	Standard	NM_006821		Approved	Mte1, ZAP128	uc001xon.5	P49753	OTTHUMG00000171608	ENST00000238651.5:c.727A>G	14.37:g.74040175A>G	ENSP00000238651:p.Lys243Glu		Q3I5F8|Q53EK4|Q9NUX4	Missense_Mutation	SNP	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.K243E	ENST00000238651.5	37	c.727	CCDS9816.1	14	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057926	0.36277	.	.	ENSG00000119673	ENST00000538782;ENST00000238651	T;T	0.41758	1.0;0.99	4.27	1.86	0.25419	.	0.525502	0.22150	N	0.063937	T	0.24812	0.0602	L	0.39020	1.185	0.18873	N	0.999989	P;P	0.49783	0.928;0.818	B;B	0.34873	0.191;0.119	T	0.16482	-1.0401	10	0.56958	D	0.05	-21.8411	7.0428	0.25029	0.4441:0.4443:0.0:0.1116	.	243;46	P49753;B3KSA0	ACOT2_HUMAN;.	E	46;243	ENSP00000440961:K46E;ENSP00000238651:K243E	ENSP00000238651:K243E	K	+	1	0	ACOT2	73109928	0.000000	0.05858	1.000000	0.80357	0.958000	0.62258	-0.832000	0.04400	0.463000	0.27118	0.338000	0.21704	AAG	ACOT2	-	pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000119673		0.507	ACOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT2	HGNC	protein_coding	OTTHUMT00000414435.1	466	0.21	1	A	NM_006821		74040175	74040175	+1	no_errors	ENST00000238651	ensembl	human	known	69_37n	missense	413	13.24	63	SNP	0.223	G
ACSF2	80221	genome.wustl.edu	37	17	48551154	48551154	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:48551154T>G	ENST00000300441.4	+	13	1708	c.1604T>G	c.(1603-1605)gTg>gGg	p.V535G	ACSF2_ENST00000504392.1_Missense_Mutation_p.V492G|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000502667.1_Missense_Mutation_p.V522G|ACSF2_ENST00000541920.1_Missense_Mutation_p.V375G|ACSF2_ENST00000427954.2_Missense_Mutation_p.V560G	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	535					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CACCCGAAGGTGCAGGAAGTG	0.527																																						dbGAP											0													112.0	108.0	109.0					17																	48551154		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.1604T>G	17.37:g.48551154T>G	ENSP00000300441:p.Val535Gly		B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.V535G	ENST00000300441.4	37	c.1604	CCDS11567.1	17	.	.	.	.	.	.	.	.	.	.	T	23.8	4.457542	0.84317	.	.	ENSG00000167107	ENST00000300441;ENST00000541920;ENST00000504392;ENST00000427954;ENST00000502667	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.1	5.1	0.69264	AMP-dependent synthetase/ligase (1);	0.186982	0.46145	D	0.000313	D	0.89880	0.6843	H	0.97918	4.105	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.997;0.994;0.994	D	0.93559	0.6893	10	0.87932	D	0	-22.8603	14.8748	0.70485	0.0:0.0:0.0:1.0	.	522;560;492;535	B4DHT5;B4DFQ6;E9PF16;Q96CM8	.;.;.;ACSF2_HUMAN	G	535;375;492;560;522	ENSP00000300441:V535G;ENSP00000437987:V375G;ENSP00000425964:V492G;ENSP00000401831:V560G;ENSP00000421884:V522G	ENSP00000300441:V535G	V	+	2	0	ACSF2	45906153	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.834000	0.62774	1.918000	0.55548	0.402000	0.26972	GTG	ACSF2	-	pfam_AMP-dep_Synth/Lig	ENSG00000167107		0.527	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	133	0.00	0	T	NM_025149		48551154	48551154	+1	no_errors	ENST00000300441	ensembl	human	known	69_37n	missense	120	12.86	18	SNP	1.000	G
ACSM1	116285	genome.wustl.edu	37	16	20693617	20693617	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:20693617T>G	ENST00000307493.4	-	3	639	c.572A>C	c.(571-573)cAc>cCc	p.H191P	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.H191P	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	191					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTCACGGCTGTGATCAGACAC	0.493																																						dbGAP											0													75.0	69.0	71.0					16																	20693617		2201	4300	6501	-	-	-	SO:0001583	missense	0			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.572A>C	16.37:g.20693617T>G	ENSP00000301956:p.His191Pro		Q08AH2|Q96A20	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.H191P	ENST00000307493.4	37	c.572	CCDS10587.1	16	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070654	0.36566	.	.	ENSG00000166743	ENST00000307493;ENST00000520010	T;T	0.39997	1.05;1.05	4.91	3.81	0.43845	AMP-dependent synthetase/ligase (1);	0.229163	0.31210	N	0.008056	T	0.33235	0.0856	N	0.16790	0.44	0.21933	N	0.999469	D	0.54397	0.966	P	0.52109	0.69	T	0.07195	-1.0785	10	0.34782	T	0.22	.	7.4352	0.27152	0.0:0.2161:0.0:0.7839	.	191	Q08AH1	ACSM1_HUMAN	P	191	ENSP00000301956:H191P;ENSP00000428047:H191P	ENSP00000301956:H191P	H	-	2	0	ACSM1	20601118	0.014000	0.17966	0.026000	0.17262	0.474000	0.32979	2.156000	0.42310	0.996000	0.38943	0.491000	0.48974	CAC	ACSM1	-	pfam_AMP-dep_Synth/Lig	ENSG00000166743		0.493	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM1	HGNC	protein_coding	OTTHUMT00000254412.1	69	0.00	0	T	NM_052956		20693617	20693617	-1	no_errors	ENST00000307493	ensembl	human	known	69_37n	missense	110	10.57	13	SNP	0.003	G
ACTN1	87	genome.wustl.edu	37	14	69378871	69378871	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:69378871A>C	ENST00000193403.6	-	4	811		c.e4+1		ACTN1_ENST00000376839.3_Splice_Site|ACTN1_ENST00000554508.1_Splice_Site|ACTN1_ENST00000394419.4_Splice_Site|ACTN1_ENST00000438964.2_Splice_Site|ACTN1_ENST00000538545.2_Splice_Site	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1						actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GCAGAAACCCACCTTCCACGG	0.552											OREG0022758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													261.0	181.0	208.0					14																	69378871		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.427+1T>G	14.37:g.69378871A>C		1114	B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Splice_Site	SNP	-	e4+2	ENST00000193403.6	37	c.427+2	CCDS9792.1	14	.	.	.	.	.	.	.	.	.	.	A	24.1	4.488469	0.84854	.	.	ENSG00000072110	ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545;ENST00000555616;ENST00000556433;ENST00000553370;ENST00000553779;ENST00000556571	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0702	0.72030	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ACTN1	68448624	1.000000	0.71417	0.993000	0.49108	0.937000	0.57800	8.974000	0.93433	2.200000	0.70718	0.459000	0.35465	.	ACTN1	-	-	ENSG00000072110		0.552	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACTN1	HGNC	protein_coding	OTTHUMT00000413233.3	180	0.00	0	A	NM_001102	Intron	69378871	69378871	-1	no_errors	ENST00000394419	ensembl	human	known	69_37n	splice_site	122	15.17	22	SNP	1.000	C
ACVR1B	91	genome.wustl.edu	37	12	52370153	52370153	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:52370153T>G	ENST00000257963.4	+	3	451	c.374T>G	c.(373-375)gTg>gGg	p.V125G	ACVR1B_ENST00000541224.1_Missense_Mutation_p.V125G|ACVR1B_ENST00000426655.2_Missense_Mutation_p.V125G|ACVR1B_ENST00000542485.1_Missense_Mutation_p.V73G|ACVR1B_ENST00000415850.2_Missense_Mutation_p.V125G	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	125					activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TGGGGCCCGGTGGAGCTGGTA	0.507																																						dbGAP											0													103.0	104.0	104.0					12																	52370153		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.374T>G	12.37:g.52370153T>G	ENSP00000257963:p.Val125Gly		B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V125G	ENST00000257963.4	37	c.374	CCDS8816.1	12	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680699	0.88542	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	L	0.58810	1.83	0.80722	D	1	P;P;P;D	0.54772	0.758;0.803;0.936;0.968	P;B;P;P	0.56216	0.511;0.389;0.674;0.794	T	0.82057	-0.0646	10	0.37606	T	0.19	.	15.7697	0.78157	0.0:0.0:0.0:1.0	.	125;125;125;125	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	G	125;125;125;125;73	ENSP00000257963:V125G;ENSP00000442656:V125G;ENSP00000390477:V125G;ENSP00000397550:V125G;ENSP00000442885:V73G	ENSP00000257963:V125G	V	+	2	0	ACVR1B	50656420	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	6.187000	0.72039	2.198000	0.70561	0.379000	0.24179	GTG	ACVR1B	-	NULL	ENSG00000135503		0.507	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1B	HGNC	protein_coding	OTTHUMT00000397000.1	160	0.00	0	T	NM_020328		52370153	52370153	+1	no_errors	ENST00000257963	ensembl	human	known	69_37n	missense	238	10.82	29	SNP	1.000	G
ADAD1	132612	genome.wustl.edu	37	4	123333833	123333833	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:123333833C>T	ENST00000296513.2	+	10	1303	c.1118C>T	c.(1117-1119)cCt>cTt	p.P373L	ADAD1_ENST00000388725.2_Missense_Mutation_p.P355L|ADAD1_ENST00000388724.2_Missense_Mutation_p.P362L	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	373	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTTTACTGTCCTAAAGATGGT	0.398																																						dbGAP											0													210.0	196.0	201.0					4																	123333833		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1118C>T	4.37:g.123333833C>T	ENSP00000296513:p.Pro373Leu		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	pfam_A_deamin,pfam_Ds-RNA-bd,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_A_deamin	p.P373L	ENST00000296513.2	37	c.1118	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843229	0.71488	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.92911	-3.13;-3.13;-3.13	5.37	4.52	0.55395	Adenosine deaminase/editase (3);	0.377764	0.29009	N	0.013432	D	0.91962	0.7454	M	0.79475	2.455	0.43896	D	0.996527	B;B	0.16603	0.008;0.018	B;B	0.16722	0.009;0.016	D	0.89403	0.3697	10	0.56958	D	0.05	-6.0661	16.1168	0.81309	0.0:0.866:0.134:0.0	.	362;373	Q96M93-2;Q96M93	.;ADAD1_HUMAN	L	373;362;355	ENSP00000296513:P373L;ENSP00000373376:P362L;ENSP00000373377:P355L	ENSP00000296513:P373L	P	+	2	0	ADAD1	123553283	0.978000	0.34361	1.000000	0.80357	0.968000	0.65278	3.946000	0.56644	1.238000	0.43771	0.563000	0.77884	CCT	ADAD1	-	pfam_A_deamin,smart_A_deamin,pfscan_A_deamin	ENSG00000164113		0.398	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	HGNC	protein_coding	OTTHUMT00000316452.1	156	0.00	0	C	NM_139243		123333833	123333833	+1	no_errors	ENST00000296513	ensembl	human	known	69_37n	missense	133	30.00	57	SNP	1.000	T
ADAM11	4185	genome.wustl.edu	37	17	42854935	42854935	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:42854935A>C	ENST00000200557.6	+	22	2036	c.1867A>C	c.(1867-1869)Acc>Ccc	p.T623P	ADAM11_ENST00000535346.1_Missense_Mutation_p.T423P	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	623	Cys-rich.				integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CAGTAGTGTCACCTTCTACCA	0.602																																						dbGAP											0													95.0	93.0	93.0					17																	42854935		2203	4300	6503	-	-	-	SO:0001583	missense	0			D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1867A>C	17.37:g.42854935A>C	ENSP00000200557:p.Thr623Pro		Q14808|Q14809|Q14810	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.T623P	ENST00000200557.6	37	c.1867	CCDS11486.1	17	.	.	.	.	.	.	.	.	.	.	A	17.81	3.480538	0.63849	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.23754	1.89;1.89	4.8	4.8	0.61643	ADAM, cysteine-rich (2);	0.060258	0.64402	D	0.000005	T	0.44932	0.1317	M	0.62723	1.935	0.80722	D	1	P;D	0.63046	0.907;0.992	P;D	0.63703	0.808;0.917	T	0.37220	-0.9715	10	0.48119	T	0.1	.	13.6388	0.62237	1.0:0.0:0.0:0.0	.	423;623	B4DKD2;O75078	.;ADA11_HUMAN	P	623;423	ENSP00000200557:T623P;ENSP00000443773:T423P	ENSP00000200557:T623P	T	+	1	0	ADAM11	40210461	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.885000	0.63142	1.923000	0.55706	0.459000	0.35465	ACC	ADAM11	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000073670		0.602	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	HGNC	protein_coding	OTTHUMT00000444531.1	86	0.00	0	A	NM_002390		42854935	42854935	+1	no_errors	ENST00000200557	ensembl	human	known	69_37n	missense	68	22.73	20	SNP	1.000	C
ADAM15	8751	genome.wustl.edu	37	1	155026888	155026888	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:155026888A>C	ENST00000356955.2	+	6	619	c.518A>C	c.(517-519)cAc>cCc	p.H173P	ADAM15_ENST00000355956.2_Missense_Mutation_p.H173P|ADAM15_ENST00000360674.4_Missense_Mutation_p.H173P|ADAM15_ENST00000368412.3_Missense_Mutation_p.H173P|ADAM15_ENST00000447332.3_Missense_Mutation_p.H157P|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.H173P|ADAM15_ENST00000531455.1_Missense_Mutation_p.H183P|ADAM15_ENST00000359280.4_Missense_Mutation_p.H173P|ADAM15_ENST00000271836.6_Missense_Mutation_p.H173P	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	173					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)			CAAGATCTCCACCTGCCAGGC	0.617																																						dbGAP											0													55.0	60.0	58.0					1																	155026888		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.518A>C	1.37:g.155026888A>C	ENSP00000349436:p.His173Pro		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.H173P	ENST00000356955.2	37	c.518	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	A	3.296	-0.143930	0.06627	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.00912	5.72;5.71;5.71;5.64;5.55;5.71;5.68;5.72	4.91	-0.633	0.11519	.	1.034590	0.07719	N	0.943325	T	0.00210	0.0006	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B;B;B	0.10450	0.003;0.002;0.003;0.002;0.002;0.005;0.005;0.005;0.003;0.001	T	0.38929	-0.9638	10	0.30078	T	0.28	.	0.9732	0.01420	0.3655:0.0978:0.1546:0.3821	.	183;190;157;173;173;173;173;173;173;173	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444	.;.;.;.;.;.;.;.;.;ADA15_HUMAN	P	173;173;173;173;173;173;173;183	ENSP00000349436:H173P;ENSP00000403843:H173P;ENSP00000352226:H173P;ENSP00000353892:H173P;ENSP00000357397:H173P;ENSP00000348227:H173P;ENSP00000271836:H173P;ENSP00000432927:H183P	ENSP00000271836:H173P	H	+	2	0	ADAM15	153293512	0.019000	0.18553	0.001000	0.08648	0.572000	0.35998	0.465000	0.22004	0.038000	0.15604	-0.527000	0.04329	CAC	ADAM15	-	NULL	ENSG00000143537		0.617	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	33	0.00	0	A	NM_003815		155026888	155026888	+1	no_errors	ENST00000356955	ensembl	human	known	69_37n	missense	54	25.68	19	SNP	0.000	C
ADAM15	8751	genome.wustl.edu	37	1	155028502	155028502	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:155028502A>C	ENST00000356955.2	+	8	845				ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000447332.3_Intron|ADAM15_ENST00000472434.1_Intron|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000449910.2_Intron|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000359280.4_Intron|ADAM15_ENST00000271836.6_Intron	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15						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)			GGCAACCCCCACCCCAGGCCC	0.612																																						dbGAP											0													48.0	49.0	49.0					1																	155028502		2203	4300	6503	-	-	-	SO:0001627	intron_variant	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.744+26A>C	1.37:g.155028502A>C			B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	RNA	SNP	-	NULL	ENST00000356955.2	37	NULL	CCDS1087.1	1																																																																																			ADAM15	-	-	ENSG00000143537		0.612	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	HGNC	protein_coding	OTTHUMT00000387168.1	123	0.00	0	A	NM_003815		155028502	155028502	+1	no_errors	ENST00000470779	ensembl	human	known	69_37n	rna	128	16.13	25	SNP	0.005	C
ADAM33	80332	genome.wustl.edu	37	20	3655672	3655672	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:3655672A>C	ENST00000356518.2	-	4	575		c.e4+1		ADAM33_ENST00000466620.1_5'Flank|ADAM33_ENST00000350009.2_Splice_Site|ADAM33_ENST00000379861.4_Splice_Site	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33						proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						GAAGCATCTCACCGTGTGGTT	0.627																																						dbGAP											0													50.0	52.0	51.0					20																	3655672		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL117415, AB055891	CCDS13058.1, CCDS63219.1	20p13	2010-04-06	2005-08-18		ENSG00000149451	ENSG00000149451		"""ADAM metallopeptidase domain containing"""	15478	protein-coding gene	gene with protein product		607114	"""a disintegrin and metalloproteinase domain 33"", ""chromosome 20 open reading frame 153"""	C20orf153		11814695	Standard	XM_005260843		Approved	DKFZp434K0521, dJ964F7.1	uc002wit.3	Q9BZ11	OTTHUMG00000031758	ENST00000356518.2:c.333+1T>G	20.37:g.3655672A>C			A0A1K6|Q5JT75|Q5JT76|Q8N0W6	Splice_Site	SNP	-	e4+2	ENST00000356518.2	37	c.333+2	CCDS13058.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.17|15.17	2.754522|2.754522	0.49362|0.49362	.|.	.|.	ENSG00000149451|ENSG00000149451	ENST00000356518;ENST00000379861;ENST00000350009;ENST00000439201|ENST00000360630;ENST00000444535;ENST00000358035;ENST00000322570	.|.	.|.	.|.	4.75|4.75	4.75|4.75	0.60458|0.60458	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77322	.|0.4113	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.999	.|T	.|0.78620	.|-0.2133	.|7	.|0.48119	.|T	.|0.1	.|.	13.2326|13.2326	0.59951|0.59951	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|111;111	.|B4E1Y6;Q7Z7E1	.|.;.	.|G	-1|111;112;112;111	.|.	.|ENSP00000318839:V111G	.|V	-|-	.|2	.|0	ADAM33|ADAM33	3603672|3603672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.382000|0.382000	0.30200|0.30200	2.127000|2.127000	0.42035|0.42035	2.015000|2.015000	0.59207|0.59207	0.459000|0.459000	0.35465|0.35465	.|GTG	ADAM33	-	-	ENSG00000149451		0.627	ADAM33-001	KNOWN	basic|CCDS	protein_coding	ADAM33	HGNC	protein_coding	OTTHUMT00000077763.2	66	0.00	0	A	NM_025220	Intron	3655672	3655672	-1	no_errors	ENST00000356518	ensembl	human	known	69_37n	splice_site	35	20.00	9	SNP	1.000	C
ADAMTS16	170690	genome.wustl.edu	37	5	5306780	5306780	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:5306780A>C	ENST00000274181.7	+	21	3488	c.3350A>C	c.(3349-3351)cAc>cCc	p.H1117P		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1117					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCCCCAGGCACCCCCCATTT	0.642																																						dbGAP											0													29.0	31.0	30.0					5																	5306780		1911	4123	6034	-	-	-	SO:0001583	missense	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3350A>C	5.37:g.5306780A>C	ENSP00000274181:p.His1117Pro		C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.H1117P	ENST00000274181.7	37	c.3350	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	A	5.351	0.250041	0.10130	.	.	ENSG00000145536	ENST00000274181	T	0.60920	0.15	5.51	-2.67	0.06059	.	0.678279	0.14156	N	0.337719	T	0.28896	0.0717	N	0.08118	0	0.09310	N	1	B	0.31730	0.337	B	0.31614	0.133	T	0.17868	-1.0355	10	0.28530	T	0.3	.	6.2553	0.20870	0.4345:0.1492:0.4163:0.0	.	1117	Q8TE57	ATS16_HUMAN	P	1117	ENSP00000274181:H1117P	ENSP00000274181:H1117P	H	+	2	0	ADAMTS16	5359780	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	0.024000	0.13555	-0.749000	0.04747	0.459000	0.35465	CAC	ADAMTS16	-	NULL	ENSG00000145536		0.642	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	48	0.00	0	A	NM_139056		5306780	5306780	+1	no_errors	ENST00000274181	ensembl	human	known	69_37n	missense	24	30.56	11	SNP	0.000	C
ADAMTS12	81792	genome.wustl.edu	37	5	33561244	33561244	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:33561244A>C	ENST00000504830.1	-	20	4348	c.4013T>G	c.(4012-4014)gTg>gGg	p.V1338G	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.V1253G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1338	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCTGCACTCCACCCTTCTCCA	0.587										HNSCC(64;0.19)																												dbGAP											0													97.0	83.0	88.0					5																	33561244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4013T>G	5.37:g.33561244A>C	ENSP00000422554:p.Val1338Gly		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V1338G	ENST00000504830.1	37	c.4013	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195507	0.78902	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.54279	0.58;0.58	5.3	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.78065	0.4225	H	0.99347	4.525	0.80722	D	1	P;P	0.47106	0.867;0.89	P;P	0.52159	0.564;0.691	D	0.83816	0.0244	10	0.87932	D	0	.	10.9454	0.47297	0.9252:0.0:0.0748:0.0	.	1253;1338	P58397-3;P58397	.;ATS12_HUMAN	G	1338;1253	ENSP00000422554:V1338G;ENSP00000344847:V1253G	ENSP00000344847:V1253G	V	-	2	0	ADAMTS12	33597001	1.000000	0.71417	0.859000	0.33776	0.998000	0.95712	6.887000	0.75616	0.843000	0.35070	0.528000	0.53228	GTG	ADAMTS12	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000151388		0.587	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	105	0.00	0	A	NM_030955		33561244	33561244	-1	no_errors	ENST00000504830	ensembl	human	known	69_37n	missense	81	14.58	14	SNP	0.996	C
ADAMTSL4	54507	genome.wustl.edu	37	1	150532616	150532616	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:150532616A>C	ENST00000369038.2	+	17	3370	c.3169A>C	c.(3169-3171)Acc>Ccc	p.T1057P	ADAMTSL4_ENST00000271643.4_Missense_Mutation_p.T1057P|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.T1080P			Q6UY14	ATL4_HUMAN	ADAMTS-like 4	1057	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				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)			CTACACAGCCACCTGTTGCCG	0.617											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													125.0	108.0	114.0					1																	150532616		2203	4300	6503	-	-	-	SO:0001583	missense	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.3169A>C	1.37:g.150532616A>C	ENSP00000358034:p.Thr1057Pro	1733	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.T1080P	ENST00000369038.2	37	c.3238	CCDS955.1	1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.116562	0.77323	.	.	ENSG00000143382	ENST00000271643;ENST00000369039;ENST00000369038	T;T;T	0.43294	0.95;0.95;0.95	5.26	4.06	0.47325	PLAC (2);	.	.	.	.	T	0.28200	0.0696	N	0.14661	0.345	0.40214	D	0.977665	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.71184	0.972;0.947;0.958	T	0.30327	-0.9982	9	0.66056	D	0.02	.	4.0933	0.09980	0.7247:0.0:0.0944:0.1809	.	1018;1080;1057	B7ZMJ3;F8WAD0;Q6UY14	.;.;ATL4_HUMAN	P	1057;1080;1057	ENSP00000271643:T1057P;ENSP00000358035:T1080P;ENSP00000358034:T1057P	ENSP00000271643:T1057P	T	+	1	0	ADAMTSL4	148799240	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.922000	0.56462	1.988000	0.58038	0.459000	0.35465	ACC	ADAMTSL4	-	pfam_PLAC,pfscan_PLAC	ENSG00000143382		0.617	ADAMTSL4-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding	OTTHUMT00000084395.4	134	0.00	0	A	NM_019032		150532616	150532616	+1	no_errors	ENST00000369039	ensembl	human	known	69_37n	missense	140	14.55	24	SNP	1.000	C
ADCK2	90956	genome.wustl.edu	37	7	140374485	140374485	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:140374485A>G	ENST00000072869.4	+	2	1186	c.1008A>G	c.(1006-1008)ggA>ggG	p.G336G	ADCK2_ENST00000476491.1_Silent_p.G336G	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	336	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GAGTCCTGGGAGTTTTGCCAG	0.532																																						dbGAP											0													116.0	98.0	104.0					7																	140374485		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.1008A>G	7.37:g.140374485A>G			Q96CN6|Q9Y6T5	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.S174G	ENST00000072869.4	37	c.520	CCDS5861.1	7	.	.	.	.	.	.	.	.	.	.	A	9.828	1.187730	0.21954	.	.	ENSG00000133597	ENST00000483369	.	.	.	5.61	-9.8	0.00490	.	.	.	.	.	T	0.36608	0.0973	.	.	.	0.19575	N	0.999965	.	.	.	.	.	.	T	0.41395	-0.9511	4	.	.	.	-16.0259	14.8313	0.70151	0.1287:0.3971:0.4741:0.0	.	.	.	.	G	174	.	.	S	+	1	0	ADCK2	140020954	0.001000	0.12720	0.000000	0.03702	0.879000	0.50718	-1.445000	0.02401	-1.819000	0.01216	0.533000	0.62120	AGT	ADCK2	-	pfam_UbiB_dom,superfamily_Kinase-like_dom	ENSG00000133597		0.532	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK2	HGNC	protein_coding	OTTHUMT00000348734.1	170	0.00	0	A	NM_052853		140374485	140374485	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000483369	ensembl	human	putative	69_37n	missense	133	16.35	26	SNP	0.001	G
ADCY4	196883	genome.wustl.edu	37	14	24787704	24787704	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:24787704A>C	ENST00000310677.4	-	26	3265	c.3152T>G	c.(3151-3153)gTg>gGg	p.V1051G	ADCY4_ENST00000554068.2_Missense_Mutation_p.V1051G|ADCY4_ENST00000418030.2_Missense_Mutation_p.V1051G	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1051					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TTTGCCTTTCACCTTGATGAC	0.562																																						dbGAP											0													134.0	119.0	124.0					14																	24787704		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.3152T>G	14.37:g.24787704A>C	ENSP00000312126:p.Val1051Gly		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V1051G	ENST00000310677.4	37	c.3152	CCDS9627.1	14	.	.	.	.	.	.	.	.	.	.	A	22.2	4.263818	0.80358	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	D;D;D	0.85013	-1.93;-1.93;-1.93	5.52	5.52	0.82312	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.42294	D	0.000722	D	0.94640	0.8272	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95985	0.8981	10	0.87932	D	0	.	13.5937	0.61975	1.0:0.0:0.0:0.0	.	1051	Q8NFM4	ADCY4_HUMAN	G	1051	ENSP00000312126:V1051G;ENSP00000452250:V1051G;ENSP00000393177:V1051G	ENSP00000312126:V1051G	V	-	2	0	ADCY4	23857544	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.283000	0.95860	2.075000	0.62263	0.533000	0.62120	GTG	ADCY4	-	pfam_A/G_cyclase,superfamily_A/G_cyclase	ENSG00000129467		0.562	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	187	0.53	1	A			24787704	24787704	-1	no_errors	ENST00000310677	ensembl	human	known	69_37n	missense	202	11.01	25	SNP	1.000	C
ADRA1A	148	genome.wustl.edu	37	8	26614180	26614180	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:26614180T>G	ENST00000380581.2	-	2	1435	c.1000A>C	c.(1000-1002)Acc>Ccc	p.T334P	ADRA1A_ENST00000380582.3_3'UTR|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_3'UTR|ADRA1A_ENST00000380586.1_Intron			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GCTCCTGGGGTGGATTCCAAA	0.512																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000380581.2:c.1000A>C	8.37:g.26614180T>G	ENSP00000369955:p.Thr334Pro		Q9NPY0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Adrene_rcpt_A1Cs,prints_Adrnrgc_rcpt	p.T334P	ENST00000380581.2	37	c.1000		8	.	.	.	.	.	.	.	.	.	.	T	10.21	1.286544	0.23478	.	.	ENSG00000120907	ENST00000380581	T	0.57595	0.39	4.01	-1.6	0.08426	.	.	.	.	.	T	0.31327	0.0793	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18555	-1.0333	8	0.41790	T	0.15	.	1.655	0.02779	0.1658:0.0983:0.3425:0.3933	.	334	P35348-9	.	P	334	ENSP00000369955:T334P	ENSP00000369955:T334P	T	-	1	0	ADRA1A	26670097	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.317000	0.19487	-0.254000	0.09500	-1.838000	0.00587	ACC	ADRA1A	-	NULL	ENSG00000120907		0.512	ADRA1A-202	KNOWN	basic	protein_coding	ADRA1A	HGNC	protein_coding		97	0.00	0	T	NM_033303		26614180	26614180	-1	no_errors	ENST00000380581	ensembl	human	known	69_37n	missense	82	22.64	24	SNP	0.000	G
ADRA2C	152	genome.wustl.edu	37	4	3769448	3769448	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:3769448T>G	ENST00000330055.5	+	1	1324	c.1115T>G	c.(1114-1116)gTg>gGg	p.V372G	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	372					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGCCGCAAGGTGGCCCAGGCG	0.701																																					Esophageal Squamous(12;454 628 4517 14479)	dbGAP											0													29.0	33.0	31.0					4																	3769448		2181	4285	6466	-	-	-	SO:0001583	missense	0			AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1115T>G	4.37:g.3769448T>G	ENSP00000386069:p.Val372Gly		P35369|Q9HB49	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adren_rcpt_A2C,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.V372G	ENST00000330055.5	37	c.1115	CCDS47004.1	4	.	.	.	.	.	.	.	.	.	.	T	8.287	0.816903	0.16607	.	.	ENSG00000184160	ENST00000330055	T	0.71817	-0.6	3.53	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.59582	0.2204	L	0.41824	1.3	0.46131	D	0.998882	B	0.12013	0.005	B	0.18871	0.023	T	0.54282	-0.8317	9	0.23891	T	0.37	.	11.4553	0.50179	0.0:0.0:0.0:1.0	.	372	P18825	ADA2C_HUMAN	G	372	ENSP00000386069:V372G	ENSP00000386069:V372G	V	+	2	0	ADRA2C	3739246	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.572000	0.36461	1.474000	0.48178	0.414000	0.27820	GTG	ADRA2C	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Adren_rcpt_A2C	ENSG00000184160		0.701	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2C	HGNC	protein_coding	OTTHUMT00000357607.1	44	0.00	0	T	NM_000683		3769448	3769448	+1	no_errors	ENST00000330055	ensembl	human	known	69_37n	missense	36	29.41	15	SNP	1.000	G
AEBP1	165	genome.wustl.edu	37	7	44146306	44146306	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:44146306A>C	ENST00000223357.3	+	2	720	c.415A>C	c.(415-417)Acc>Ccc	p.T139P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	139	Pro-rich.				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						ACCTAAGGCCACCAAGAAGCC	0.632																																						dbGAP											0													103.0	107.0	105.0					7																	44146306		2194	4293	6487	-	-	-	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.415A>C	7.37:g.44146306A>C	ENSP00000223357:p.Thr139Pro		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.T139P	ENST00000223357.3	37	c.415	CCDS5476.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.19|12.19	1.862584|1.862584	0.32884|0.32884	.|.	.|.	ENSG00000106624|ENSG00000106624	ENST00000455443|ENST00000223357;ENST00000449162	.|D	.|0.96300	.|-3.97	4.69|4.69	4.69|4.69	0.59074|0.59074	.|.	.|0.831259	.|0.10347	.|N	.|0.685532	D|D	0.96309|0.96309	0.8796|0.8796	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|P	.|0.60886	.|0.88	D|D	0.94222|0.94222	0.7468|0.7468	5|10	.|0.72032	.|D	.|0.01	-37.3304|-37.3304	13.3284|13.3284	0.60473|0.60473	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|139	.|Q8IUX7	.|AEBP1_HUMAN	P|P	96|139;55	.|ENSP00000223357:T139P	.|ENSP00000223357:T139P	H|T	+|+	2|1	0|0	AEBP1|AEBP1	44112831|44112831	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	2.194000|2.194000	0.42668|0.42668	1.898000|1.898000	0.54952|0.54952	0.379000|0.379000	0.24179|0.24179	CAC|ACC	AEBP1	-	NULL	ENSG00000106624		0.632	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	440	0.22	1	A	NM_001129		44146306	44146306	+1	no_errors	ENST00000223357	ensembl	human	known	69_37n	missense	171	13.13	26	SNP	1.000	C
AEBP1	165	genome.wustl.edu	37	7	44146362	44146362	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:44146362A>C	ENST00000223357.3	+	2	776	c.471A>C	c.(469-471)ccA>ccC	p.P157P		NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	157	Pro-rich.				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						AAGAGAAGCCACCCAAGGCCA	0.642																																						dbGAP											0													80.0	83.0	82.0					7																	44146362		2194	4295	6489	-	-	-	SO:0001819	synonymous_variant	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.471A>C	7.37:g.44146362A>C			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	NULL	p.T115P	ENST00000223357.3	37	c.343	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	A	10.15	1.271145	0.23221	.	.	ENSG00000106624	ENST00000455443	.	.	.	4.87	0.496	0.16896	.	.	.	.	.	T	0.43299	0.1241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.31024	-0.9958	4	.	.	.	-9.6314	2.599	0.04861	0.4955:0.2846:0.0821:0.1378	.	.	.	.	P	115	.	.	T	+	1	0	AEBP1	44112887	0.010000	0.17322	1.000000	0.80357	0.986000	0.74619	-1.404000	0.02494	0.699000	0.31761	0.379000	0.24179	ACC	AEBP1	-	NULL	ENSG00000106624		0.642	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	371	0.80	3	A	NM_001129		44146362	44146362	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000455443	ensembl	human	novel	69_37n	missense	136	10.53	16	SNP	0.998	C
AEBP1	165	genome.wustl.edu	37	7	44151651	44151651	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:44151651T>G	ENST00000223357.3	+	16	2342		c.e16+2		AEBP1_ENST00000450684.2_Splice_Site|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1						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						GCGCAGATGGTGGGTTGAAGG	0.657																																						dbGAP											0													47.0	41.0	43.0					7																	44151651		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	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.2037+2T>G	7.37:g.44151651T>G			Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Splice_Site	SNP	-	e16+2	ENST00000223357.3	37	c.2037+2	CCDS5476.1	7	.	.	.	.	.	.	.	.	.	.	T	18.14	3.557318	0.65425	.	.	ENSG00000106624	ENST00000223357;ENST00000450684	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1358	0.72566	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	AEBP1	44118176	1.000000	0.71417	0.984000	0.44739	0.795000	0.44927	6.621000	0.74228	2.053000	0.61076	0.379000	0.24179	.	AEBP1	-	-	ENSG00000106624		0.657	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AEBP1	HGNC	protein_coding	OTTHUMT00000250993.2	86	0.00	0	T	NM_001129	Intron	44151651	44151651	+1	no_errors	ENST00000223357	ensembl	human	known	69_37n	splice_site	36	19.57	9	SNP	1.000	G
AFG3L2	10939	genome.wustl.edu	37	18	12353015	12353015	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:12353015A>C	ENST00000269143.3	-	10	1538	c.1307T>G	c.(1306-1308)gTg>gGg	p.V436G		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	436					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ATCCATCTCCACCAGCAGCTG	0.478																																						dbGAP											0													230.0	180.0	197.0					18																	12353015		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.1307T>G	18.37:g.12353015A>C	ENSP00000269143:p.Val436Gly		Q6P1L0	Missense_Mutation	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,smart_AAA+_ATPase,tigrfam_FtsH	p.V436G	ENST00000269143.3	37	c.1307	CCDS11859.1	18	.	.	.	.	.	.	.	.	.	.	A	19.19	3.778868	0.70107	.	.	ENSG00000141385	ENST00000269143;ENST00000537174	D	0.92911	-3.13	5.25	5.25	0.73442	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	D	0.95169	0.8434	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95679	0.8730	10	0.87932	D	0	0.0779	15.46	0.75346	1.0:0.0:0.0:0.0	.	436	Q9Y4W6	AFG32_HUMAN	G	436;451	ENSP00000269143:V436G	ENSP00000269143:V436G	V	-	2	0	AFG3L2	12343015	1.000000	0.71417	0.999000	0.59377	0.611000	0.37282	9.189000	0.94928	2.129000	0.65627	0.528000	0.53228	GTG	AFG3L2	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_FtsH	ENSG00000141385		0.478	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	562	0.53	3	A	NM_006796		12353015	12353015	-1	no_errors	ENST00000269143	ensembl	human	known	69_37n	missense	315	11.24	40	SNP	1.000	C
AFG3L2	10939	genome.wustl.edu	37	18	12367317	12367317	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:12367317A>C	ENST00000269143.3	-	4	588	c.357T>G	c.(355-357)ggT>ggG	p.G119G		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	119					axonogenesis (GO:0007409)|cell death (GO:0008219)|cristae formation (GO:0042407)|mitochondrial fusion (GO:0008053)|mitochondrial protein processing (GO:0034982)|muscle fiber development (GO:0048747)|myelination (GO:0042552)|nerve development (GO:0021675)|neuromuscular junction development (GO:0007528)|regulation of multicellular organism growth (GO:0040014)|righting reflex (GO:0060013)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CTTTCTTGCCACCTCGTTTTC	0.488																																						dbGAP											0													176.0	164.0	168.0					18																	12367317		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y18314	CCDS11859.1	18p11.21	2014-09-17	2013-10-17		ENSG00000141385	ENSG00000141385		"""ATPases / AAA-type"""	315	protein-coding gene	gene with protein product		604581	"""AFG3 (ATPase family gene 3, yeast)-like 2"", ""spinocerebellar ataxia 28"", ""AFG3 ATPase family gene 3-like 2 (yeast)"", ""AFG3 ATPase family gene 3-like 2 (S. cerevisiae)"", ""AFG3 ATPase family member 3-like 2 (S. cerevisiae)"""	SCA28		10395799, 18769991	Standard	NM_006796		Approved	SPAX5	uc002kqz.2	Q9Y4W6	OTTHUMG00000131695	ENST00000269143.3:c.357T>G	18.37:g.12367317A>C			Q6P1L0	Silent	SNP	pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,smart_AAA+_ATPase,tigrfam_FtsH	p.G119	ENST00000269143.3	37	c.357	CCDS11859.1	18																																																																																			AFG3L2	-	NULL	ENSG00000141385		0.488	AFG3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFG3L2	HGNC	protein_coding	OTTHUMT00000254603.2	187	0.53	1	A	NM_006796		12367317	12367317	-1	no_errors	ENST00000269143	ensembl	human	known	69_37n	silent	144	18.99	34	SNP	0.865	C
AFMID	125061	genome.wustl.edu	37	17	76201794	76201794	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:76201794A>C	ENST00000327898.5	+	9	764	c.755A>C	c.(754-756)cAc>cCc	p.H252P	AFMID_ENST00000591952.1_Intron|AFMID_ENST00000409257.5_Missense_Mutation_p.H252P|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000589664.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			CCCGAATTCCACCGACAGTCC	0.587																																						dbGAP											0													61.0	63.0	62.0					17																	76201794		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.755A>C	17.37:g.76201794A>C	ENSP00000328938:p.His252Pro			Missense_Mutation	SNP	pfam_AB_hydrolase_3	p.H252P	ENST00000327898.5	37	c.755	CCDS45801.1	17	.	.	.	.	.	.	.	.	.	.	A	14.14	2.446276	0.43429	.	.	ENSG00000183077	ENST00000409257;ENST00000327898	T	0.11604	2.76	4.78	1.02	0.19986	Alpha/beta hydrolase fold-3 (1);	0.599767	0.19302	N	0.117619	T	0.23133	0.0559	M	0.84948	2.725	0.80722	D	1	D;P	0.53462	0.96;0.95	P;P	0.57776	0.827;0.735	T	0.03887	-1.0995	10	0.44086	T	0.13	-15.2215	2.5521	0.04751	0.4194:0.0:0.344:0.2366	.	252;252	Q63HM1;Q63HM1-2	AFMID_HUMAN;.	P	252	ENSP00000386890:H252P	ENSP00000328938:H252P	H	+	2	0	AFMID	73713389	0.960000	0.32886	0.987000	0.45799	0.184000	0.23303	0.343000	0.19944	0.674000	0.31244	0.260000	0.18958	CAC	AFMID	-	NULL	ENSG00000183077		0.587	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFMID	HGNC	protein_coding	OTTHUMT00000333203.1	108	0.89	1	A	XM_058889		76201794	76201794	+1	no_errors	ENST00000327898	ensembl	human	known	69_37n	missense	69	17.86	15	SNP	1.000	C
TSPAN31	6302	genome.wustl.edu	37	12	58135793	58135793	+	5'Flank	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:58135793A>C	ENST00000257910.3	+	0	0				AGAP2_ENST00000257897.3_Missense_Mutation_p.V21G|TSPAN31_ENST00000553221.1_Intron	NM_005981.3	NP_005972.1	Q12999	TSN31_HUMAN	tetraspanin 31						positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTGCTTGGCCACCTCATGTCG	0.577																																						dbGAP											0													214.0	170.0	185.0					12																	58135793		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0				CCDS8952.1	12q13-q14	2013-02-14	2005-08-16	2005-08-16		ENSG00000135452		"""Tetraspanins"""	10539	protein-coding gene	gene with protein product		181035	"""sarcoma amplified sequence"""	SAS			Standard	NM_005981		Approved		uc001spt.3	Q12999			12.37:g.58135793A>C	Exception_encountered		O00577|Q53X76	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.V21G	ENST00000257910.3	37	c.62	CCDS8952.1	12	.	.	.	.	.	.	.	.	.	.	a	12.38	1.921373	0.33908	.	.	ENSG00000135439	ENST00000257897	T	0.31769	1.48	4.76	4.76	0.60689	.	.	.	.	.	T	0.22322	0.0538	.	.	.	0.80722	D	1	P	0.41450	0.75	B	0.33690	0.168	T	0.03750	-1.1007	8	0.42905	T	0.14	.	11.0132	0.47675	1.0:0.0:0.0:0.0	.	21	Q99490-2	.	G	21	ENSP00000257897:V21G	ENSP00000257897:V21G	V	-	2	0	AGAP2	56422060	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	3.555000	0.53727	1.924000	0.55735	0.235000	0.17854	GTG	AGAP2	-	NULL	ENSG00000135439		0.577	TSPAN31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP2	HGNC	protein_coding	OTTHUMT00000408778.1	127	0.00	0	A			58135793	58135793	-1	no_errors	ENST00000257897	ensembl	human	known	69_37n	missense	123	12.77	18	SNP	1.000	C
AGRN	375790	genome.wustl.edu	37	1	957654	957654	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:957654T>G	ENST00000379370.2	+	2	325	c.275T>G	c.(274-276)gTg>gGg	p.V92G		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	92	NtA. {ECO:0000255|PROSITE- ProRule:PRU00443}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCAACAAGGTGGTGATCAGC	0.612																																						dbGAP											0													124.0	133.0	130.0					1																	957654		2203	4300	6503	-	-	-	SO:0001583	missense	0			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.275T>G	1.37:g.957654T>G	ENSP00000368678:p.Val92Gly		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EGF-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EGF-like,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA	p.V92G	ENST00000379370.2	37	c.275	CCDS30551.1	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.121640	0.77436	.	.	ENSG00000188157	ENST00000379370	T	0.39229	1.09	3.88	3.88	0.44766	Agrin NtA (2);Tissue inhibitor of metalloproteinases-like, OB-fold (1);	0.000000	0.38164	U	0.001793	T	0.52108	0.1714	L	0.32530	0.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.56792	-0.7920	10	0.87932	D	0	-16.359	13.1646	0.59562	0.0:0.0:0.0:1.0	.	92	O00468	AGRIN_HUMAN	G	92	ENSP00000368678:V92G	ENSP00000368678:V92G	V	+	2	0	AGRN	947517	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	5.662000	0.68032	1.770000	0.52166	0.459000	0.35465	GTG	AGRN	-	pfam_Agrin_NtA,superfamily_TIMP-like_OB-fold,pfscan_Agrin_NtA	ENSG00000188157		0.612	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGRN	HGNC	protein_coding	OTTHUMT00000097990.2	132	0.00	0	T	NM_198576		957654	957654	+1	no_errors	ENST00000379370	ensembl	human	known	69_37n	missense	68	20.93	18	SNP	1.000	G
AHNAK	79026	genome.wustl.edu	37	11	62290775	62290775	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:62290775A>C	ENST00000378024.4	-	5	11388	c.11114T>G	c.(11113-11115)gTg>gGg	p.V3705G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3705					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGATGTCCACCTCAGGGCC	0.473																																						dbGAP											0													159.0	164.0	162.0					11																	62290775		2202	4299	6501	-	-	-	SO:0001583	missense	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.11114T>G	11.37:g.62290775A>C	ENSP00000367263:p.Val3705Gly		A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V3705G	ENST00000378024.4	37	c.11114	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	-	10.62	1.401753	0.25291	.	.	ENSG00000124942	ENST00000378024	T	0.03745	3.82	4.86	3.7	0.42460	.	2.483730	0.02466	N	0.087053	T	0.12987	0.0315	M	0.92970	3.365	0.21105	N	0.99978	B	0.10296	0.003	B	0.09377	0.004	T	0.47947	-0.9077	10	0.54805	T	0.06	.	8.078	0.30729	0.8368:0.0:0.1632:0.0	.	3705	Q09666	AHNK_HUMAN	G	3705	ENSP00000367263:V3705G	ENSP00000367263:V3705G	V	-	2	0	AHNAK	62047351	0.269000	0.24143	0.001000	0.08648	0.007000	0.05969	4.818000	0.62657	0.776000	0.33473	0.372000	0.22366	GTG	AHNAK	-	NULL	ENSG00000124942		0.473	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	150	0.66	1	A	NM_024060		62290775	62290775	-1	no_errors	ENST00000378024	ensembl	human	known	69_37n	missense	178	11.82	24	SNP	0.001	C
AHNAK2	113146	genome.wustl.edu	37	14	105410029	105410029	+	Missense_Mutation	SNP	A	A	C	rs185391570	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:105410029A>C	ENST00000333244.5	-	7	11878	c.11759T>G	c.(11758-11760)gTg>gGg	p.V3920G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3920						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCACTTCCACCTTGGGGTC	0.607																																						dbGAP											0													142.0	149.0	146.0					14																	105410029		1907	4108	6015	-	-	-	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11759T>G	14.37:g.105410029A>C	ENSP00000353114:p.Val3920Gly		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V3920G	ENST00000333244.5	37	c.11759	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	-	8.926	0.962252	0.18583	.	.	ENSG00000185567	ENST00000333244	T	0.01076	5.37	3.33	-6.66	0.01789	.	354.623000	0.01348	U	0.011790	T	0.01222	0.0040	L	0.32530	0.975	0.09310	N	1	B	0.12630	0.006	B	0.16722	0.016	T	0.44314	-0.9336	10	0.14656	T	0.56	.	11.7642	0.51920	0.3514:0.1161:0.5326:0.0	.	3920	Q8IVF2	AHNK2_HUMAN	G	3920	ENSP00000353114:V3920G	ENSP00000353114:V3920G	V	-	2	0	AHNAK2	104481074	0.005000	0.15991	0.000000	0.03702	0.014000	0.08584	1.028000	0.30128	-1.435000	0.01972	-0.762000	0.03455	GTG	AHNAK2	-	NULL	ENSG00000185567		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	232	0.00	0	A	NM_138420		105410029	105410029	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	271	11.97	37	SNP	0.000	C
AHNAK2	113146	genome.wustl.edu	37	14	105410785	105410785	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:105410785A>C	ENST00000333244.5	-	7	11122	c.11003T>G	c.(11002-11004)gTg>gGg	p.V3668G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3668						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCGGCTTCCACCTTGGGTGC	0.587																																						dbGAP											0													148.0	155.0	153.0					14																	105410785		1941	4140	6081	-	-	-	SO:0001583	missense	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11003T>G	14.37:g.105410785A>C	ENSP00000353114:p.Val3668Gly		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V3668G	ENST00000333244.5	37	c.11003	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	a	4.944	0.175450	0.09391	.	.	ENSG00000185567	ENST00000333244	T	0.01279	5.06	4.01	-1.36	0.09085	.	.	.	.	.	T	0.01353	0.0044	L	0.42529	1.33	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.47497	-0.9113	9	0.17832	T	0.49	.	5.7615	0.18203	0.6245:0.1397:0.2358:0.0	.	3668	Q8IVF2	AHNK2_HUMAN	G	3668	ENSP00000353114:V3668G	ENSP00000353114:V3668G	V	-	2	0	AHNAK2	104481830	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.649000	0.05384	-0.270000	0.09285	-0.496000	0.04628	GTG	AHNAK2	-	NULL	ENSG00000185567		0.587	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	142	0.69	1	A	NM_138420		105410785	105410785	-1	no_errors	ENST00000333244	ensembl	human	known	69_37n	missense	124	13.79	20	SNP	0.000	C
AHRR	57491	genome.wustl.edu	37	5	434540	434540	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:434540A>C	ENST00000505113.1	+	11	1741	c.1697A>C	c.(1696-1698)cAc>cCc	p.H566P	AHRR_ENST00000506456.1_Missense_Mutation_p.H422P|AHRR_ENST00000316418.5_Missense_Mutation_p.H584P|AHRR_ENST00000512529.1_Missense_Mutation_p.H412P	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	566	Needed for transcriptional repression. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GACAGGAGCCACCCAGCCACC	0.627																																						dbGAP											0													51.0	59.0	56.0					5																	434540		2131	4240	6371	-	-	-	SO:0001583	missense	0			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1697A>C	5.37:g.434540A>C	ENSP00000424601:p.His566Pro		A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd	p.H584P	ENST00000505113.1	37	c.1751	CCDS56355.1	5	.	.	.	.	.	.	.	.	.	.	A	3.641	-0.073524	0.07184	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.23552	2.22;2.22;1.9;1.9	4.43	0.393	0.16294	.	0.426761	0.24195	N	0.040663	T	0.14013	0.0339	N	0.19112	0.55	0.09310	N	1	B;P;P	0.37864	0.0;0.475;0.61	B;B;B	0.37888	0.001;0.188;0.26	T	0.12268	-1.0554	10	0.56958	D	0.05	.	5.8839	0.18870	0.7329:0.1468:0.1203:0.0	.	422;566;584	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	P	566;584;412;422	ENSP00000424601:H566P;ENSP00000323816:H584P;ENSP00000424880:H412P;ENSP00000426932:H422P	ENSP00000323816:H584P	H	+	2	0	AHRR	487540	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.075000	0.14686	-0.106000	0.12110	-1.413000	0.01118	CAC	AHRR	-	NULL	ENSG00000063438		0.627	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1	59	0.00	0	A	NM_020731		434540	434540	+1	no_errors	ENST00000316418	ensembl	human	known	69_37n	missense	65	20.48	17	SNP	0.003	C
AK1	203	genome.wustl.edu	37	9	130634130	130634130	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:130634130A>C	ENST00000373176.1	-	5	448	c.296T>G	c.(295-297)gTg>gGg	p.V99G	RP11-203J24.9_ENST00000476274.2_RNA|MIR4672_ENST00000583126.1_RNA|AK1_ENST00000373156.1_Missense_Mutation_p.V99G|AK1_ENST00000223836.10_Missense_Mutation_p.V115G	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						TCCTTGCTGCACCTCCCGCGG	0.602																																						dbGAP											0													145.0	121.0	129.0					9																	130634130		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"""Adenylate kinases"""	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.296T>G	9.37:g.130634130A>C	ENSP00000362271:p.Val99Gly			Missense_Mutation	SNP	pfam_Adenylate_kin,pfam_Zeta_toxin_domain,prints_Adenylate_kin,tigrfam_Adenylate_kin1	p.V99G	ENST00000373176.1	37	c.296	CCDS6881.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.4|23.4	4.411528|4.411528	0.83340|0.83340	.|.	.|.	ENSG00000106992|ENSG00000106992	ENST00000413016|ENST00000373176;ENST00000373156;ENST00000223836	.|T;T;T	.|0.78595	.|-1.19;-1.19;-1.19	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88614|0.88614	0.6484|0.6484	M|M	0.91561|0.91561	3.22|3.22	0.80722|0.80722	D|D	1|1	.|D	.|0.61697	.|0.99	.|P	.|0.60345	.|0.873	D|D	0.91198|0.91198	0.4989|0.4989	5|10	.|0.87932	.|D	.|0	-46.1058|-46.1058	13.6415|13.6415	0.62253|0.62253	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|99	.|P00568	.|KAD1_HUMAN	G|G	40|99;99;115	.|ENSP00000362271:V99G;ENSP00000362249:V99G;ENSP00000223836:V115G	.|ENSP00000223836:V115G	C|V	-|-	1|2	0|0	AK1|AK1	129673951|129673951	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.995000|0.995000	0.86356|0.86356	8.774000|8.774000	0.91767|0.91767	1.954000|1.954000	0.56735|0.56735	0.454000|0.454000	0.30748|0.30748	TGC|GTG	AK1	-	pfam_Adenylate_kin,pfam_Zeta_toxin_domain,prints_Adenylate_kin,tigrfam_Adenylate_kin1	ENSG00000106992		0.602	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AK1	HGNC	protein_coding	OTTHUMT00000054307.1	164	0.00	0	A			130634130	130634130	-1	no_errors	ENST00000373176	ensembl	human	known	69_37n	missense	172	14.43	29	SNP	1.000	C
AKAP13	11214	genome.wustl.edu	37	15	86286963	86286963	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:86286963A>C	ENST00000394518.2	+	36	8394	c.8299A>C	c.(8299-8301)Acc>Ccc	p.T2767P	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.T2771P|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000394510.2_Missense_Mutation_p.T1012P	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2767	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						CCCTGCGTCCACCTCTGCCTC	0.517																																					Melanoma(94;603 1453 3280 32295 32951)	dbGAP											0													59.0	62.0	61.0					15																	86286963		2202	4299	6501	-	-	-	SO:0001583	missense	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8299A>C	15.37:g.86286963A>C	ENSP00000378026:p.Thr2767Pro		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.T2771P	ENST00000394518.2	37	c.8311	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	A	8.785	0.929141	0.18131	.	.	ENSG00000170776	ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	T;T;T	0.49139	0.79;0.79;0.79	4.97	-1.79	0.07932	.	.	.	.	.	T	0.33352	0.0860	L	0.47716	1.5	0.09310	N	1	B;B	0.28850	0.062;0.225	B;B	0.20955	0.01;0.032	T	0.23547	-1.0185	9	0.59425	D	0.04	.	4.589	0.12297	0.3793:0.0:0.4478:0.173	.	2767;2771	Q12802;Q12802-2	AKP13_HUMAN;.	P	2771;2767;2770;2746;1012	ENSP00000354718:T2771P;ENSP00000378026:T2767P;ENSP00000378018:T1012P	ENSP00000354718:T2771P	T	+	1	0	AKAP13	84087967	0.000000	0.05858	0.002000	0.10522	0.262000	0.26303	-1.475000	0.02335	-0.342000	0.08363	0.528000	0.53228	ACC	AKAP13	-	NULL	ENSG00000170776		0.517	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	115	0.00	0	A	NM_007200		86286963	86286963	+1	no_errors	ENST00000361243	ensembl	human	known	69_37n	missense	61	20.25	16	SNP	0.084	C
AKNA	80709	genome.wustl.edu	37	9	117121928	117121928	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:117121928A>C	ENST00000307564.4	-	11	2599	c.2438T>G	c.(2437-2439)gTc>gGc	p.V813G	AKNA_ENST00000374075.5_Missense_Mutation_p.V732G|AKNA_ENST00000223791.3_Missense_Mutation_p.V273G|AKNA_ENST00000374088.3_Missense_Mutation_p.V813G|AKNA_ENST00000312033.3_Missense_Mutation_p.V813G	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	813					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CCTTGGGAGGACCCTGGTGGC	0.582																																						dbGAP											0													103.0	99.0	100.0					9																	117121928		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2438T>G	9.37:g.117121928A>C	ENSP00000303769:p.Val813Gly		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.V813G	ENST00000307564.4	37	c.2438	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	a	8.146	0.786331	0.16189	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.37915	2.42;2.42;2.19;2.42;1.17	3.61	1.18	0.20946	.	1.781570	0.03139	N	0.166266	T	0.25568	0.0622	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22452	-1.0216	10	0.51188	T	0.08	-4.5475	5.5151	0.16902	0.7686:0.0:0.2314:0.0	.	813;732	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	G	813;654;813;273;732;813	ENSP00000303769:V813G;ENSP00000363201:V813G;ENSP00000223791:V273G;ENSP00000363188:V732G;ENSP00000309222:V813G	ENSP00000223791:V273G	V	-	2	0	AKNA	116161749	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.027000	0.13621	0.243000	0.21327	0.370000	0.22315	GTC	AKNA	-	NULL	ENSG00000106948		0.582	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	119	0.83	1	A	NM_030767		117121928	117121928	-1	no_errors	ENST00000307564	ensembl	human	known	69_37n	missense	73	18.89	17	SNP	0.000	C
AKNA	80709	genome.wustl.edu	37	9	117121964	117121964	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:117121964A>C	ENST00000307564.4	-	11	2563	c.2402T>G	c.(2401-2403)gTg>gGg	p.V801G	AKNA_ENST00000374075.5_Missense_Mutation_p.V720G|AKNA_ENST00000223791.3_Missense_Mutation_p.V261G|AKNA_ENST00000374088.3_Missense_Mutation_p.V801G|AKNA_ENST00000312033.3_Missense_Mutation_p.V801G	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	801	PEST.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGTTGCAGCCACCCCATCAAC	0.597																																						dbGAP											0													83.0	76.0	79.0					9																	117121964		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.2402T>G	9.37:g.117121964A>C	ENSP00000303769:p.Val801Gly		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.V801G	ENST00000307564.4	37	c.2402	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	A	6.427	0.446868	0.12223	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.30714	2.73;2.73;2.51;2.73;1.52	3.62	-0.409	0.12378	.	1.397320	0.04734	N	0.421610	T	0.17408	0.0418	N	0.14661	0.345	0.09310	N	1	B;B	0.27732	0.118;0.187	B;B	0.25140	0.026;0.058	T	0.23119	-1.0197	10	0.25106	T	0.35	3.0384	6.5459	0.22406	0.4599:0.0:0.5401:0.0	.	801;720	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	G	801;642;801;261;720;801	ENSP00000303769:V801G;ENSP00000363201:V801G;ENSP00000223791:V261G;ENSP00000363188:V720G;ENSP00000309222:V801G	ENSP00000223791:V261G	V	-	2	0	AKNA	116161785	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.081000	0.11321	-0.074000	0.12820	-0.475000	0.04921	GTG	AKNA	-	NULL	ENSG00000106948		0.597	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	91	0.00	0	A	NM_030767		117121964	117121964	-1	no_errors	ENST00000307564	ensembl	human	known	69_37n	missense	51	21.54	14	SNP	0.000	C
AKR7L	246181	genome.wustl.edu	37	1	19596145	19596145	+	RNA	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:19596145A>C	ENST00000429712.1	-	0	655				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTCCGTTTCCACCTGCCGGGT	0.577																																						dbGAP											0													83.0	83.0	83.0					1																	19596145		692	1591	2283	-	-	-			0					1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19596145A>C			Q5U614	Missense_Mutation	SNP	NULL	p.V179G	ENST00000429712.1	37	c.536		1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.876489	0.51801	.	.	ENSG00000211454	ENST00000429712;ENST00000388886	.	.	.	3.88	1.36	0.22044	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.63117	0.2484	.	.	.	0.80722	D	1	D	0.54207	0.965	P	0.55260	0.772	T	0.61496	-0.7051	8	0.87932	D	0	.	6.0309	0.19679	0.7437:0.1638:0.0925:0.0	.	179	Q8NHP1	ARK74_HUMAN	G	179;144	.	ENSP00000373538:V144G	V	-	2	0	AKR7L	19468732	1.000000	0.71417	0.588000	0.28705	0.549000	0.35272	5.481000	0.66826	0.146000	0.19002	0.254000	0.18369	GTG	AKR7L	-	NULL	ENSG00000211454		0.577	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	AKR7L	HGNC	polymorphic_pseudogene	OTTHUMT00000007163.3	187	0.53	1	A	NM_201252		19596145	19596145	-1	pseudogene	ENST00000429712	ensembl	human	known	69_37n	missense	123	13.99	20	SNP	1.000	C
AKR7A2	8574	genome.wustl.edu	37	1	19633876	19633876	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:19633876A>C	ENST00000235835.3	-	4	641	c.620T>G	c.(619-621)gTg>gGg	p.V207G	RNU6-1099P_ENST00000363533.1_RNA	NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	207					carbohydrate metabolic process (GO:0005975)|cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|phenanthrene-9,10-epoxide hydrolase activity (GO:0019119)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCGTTTCCACCTGCCGGGT	0.587																																						dbGAP											0													82.0	75.0	78.0					1																	19633876		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026947	CCDS194.1	1p36.13	2010-09-30			ENSG00000053371	ENSG00000053371		"""Aldo-keto reductases"""	389	protein-coding gene	gene with protein product		603418				9576847	Standard	NM_003689		Approved	AFAR	uc001bbw.3	O43488	OTTHUMG00000002522	ENST00000235835.3:c.620T>G	1.37:g.19633876A>C	ENSP00000235835:p.Val207Gly		O75749|Q5TG63	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	p.V207G	ENST00000235835.3	37	c.620	CCDS194.1	1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.713418	0.89112	.	.	ENSG00000053371	ENST00000235835;ENST00000330072	T;T	0.04706	3.57;3.57	5.17	5.17	0.71159	NADP-dependent oxidoreductase domain (3);	0.063133	0.64402	D	0.000006	T	0.20941	0.0504	M	0.85542	2.76	0.80722	D	1	D	0.62365	0.991	P	0.59487	0.858	T	0.01081	-1.1458	10	0.87932	D	0	.	14.1287	0.65238	1.0:0.0:0.0:0.0	.	207	O43488	ARK72_HUMAN	G	207;162	ENSP00000235835:V207G;ENSP00000339084:V162G	ENSP00000235835:V207G	V	-	2	0	AKR7A2	19506463	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.995000	0.76257	2.064000	0.61679	0.533000	0.62120	GTG	AKR7A2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom	ENSG00000053371		0.587	AKR7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR7A2	HGNC	protein_coding	OTTHUMT00000007165.2	174	0.56	1	A	NM_003689		19633876	19633876	-1	no_errors	ENST00000235835	ensembl	human	known	69_37n	missense	85	22.02	24	SNP	1.000	C
AKNAD1	254268	genome.wustl.edu	37	1	109365853	109365853	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:109365853T>G	ENST00000370001.3	-	13	2436				AKNAD1_ENST00000369995.3_Silent_p.S736S|AKNAD1_ENST00000477908.1_5'Flank|AKNAD1_ENST00000369994.1_Silent_p.S697S|AKNAD1_ENST00000357393.4_3'UTR	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1							cytoplasm (GO:0005737)				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AAGTGTCAGGTGAGTGCACAA	0.507																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2167+138A>C	1.37:g.109365853T>G			B9EK62|Q5T1N0|Q8N990|Q8NCN9	Silent	SNP	pfam_TF_AT-hook	p.S736	ENST00000370001.3	37	c.2208	CCDS791.2	1																																																																																			AKNAD1	-	NULL	ENSG00000162641		0.507	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	85	0.00	0	T	NM_152763		109365853	109365853	-1	no_errors	ENST00000369995	ensembl	human	known	69_37n	silent	59	28.05	23	SNP	0.001	G
AKT2	208	genome.wustl.edu	37	19	40741972	40741972	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:40741972A>C	ENST00000392038.2	-	11	1298	c.1000T>G	c.(1000-1002)Tgg>Ggg	p.W334G	AKT2_ENST00000424901.1_Missense_Mutation_p.W334G|AKT2_ENST00000311278.6_Missense_Mutation_p.W291G|AKT2_ENST00000579047.1_Missense_Mutation_p.W272G	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	334	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Ral GTPase activity (GO:0032859)|apoptotic process (GO:0006915)|carbohydrate transport (GO:0008643)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|fat cell differentiation (GO:0045444)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transmembrane transport (GO:0065002)|mammary gland epithelial cell differentiation (GO:0060644)|membrane organization (GO:0061024)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|peripheral nervous system myelin maintenance (GO:0032287)|positive regulation of cell motility (GO:2000147)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)|protein localization to plasma membrane (GO:0072659)|regulation of cell cycle arrest (GO:0071156)|regulation of cell migration (GO:0030334)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			CCCAGCCCCCACCAGTCCACG	0.617			A		"""ovarian, pancreatic """																																	dbGAP		Dom	yes		19	19q13.1-q13.2	208	v-akt murine thymoma viral oncogene homolog 2		E	0													95.0	75.0	82.0					19																	40741972		2203	4300	6503	-	-	-	SO:0001583	missense	0			M77198	CCDS12552.1	19q13.1-q13.2	2013-01-10			ENSG00000105221	ENSG00000105221	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	392	protein-coding gene	gene with protein product		164731				1409633	Standard	NM_001626		Approved		uc002onf.3	P31751	OTTHUMG00000137375	ENST00000392038.2:c.1000T>G	19.37:g.40741972A>C	ENSP00000375892:p.Trp334Gly		B2RBD8|Q05BV0|Q0VAN0|Q0VAN1|Q68GC0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.W334G	ENST00000392038.2	37	c.1000	CCDS12552.1	19	.	.	.	.	.	.	.	.	.	.	A	15.06	2.719848	0.48728	.	.	ENSG00000105221	ENST00000392038;ENST00000391844;ENST00000424901;ENST00000311278;ENST00000391845	T;T;T	0.48836	0.8;0.8;0.8	5.65	5.65	0.86999	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	0.81460	0.4827	H	0.98936	4.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.88936	0.3376	10	0.87932	D	0	.	14.8498	0.70286	1.0:0.0:0.0:0.0	.	272;291;334	B4DG79;Q0VAN0;P31751	.;.;AKT2_HUMAN	G	334;235;334;291;154	ENSP00000375892:W334G;ENSP00000399532:W334G;ENSP00000309428:W291G	ENSP00000309428:W291G	W	-	1	0	AKT2	45433812	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.273000	0.95719	2.156000	0.67533	0.454000	0.30748	TGG	AKT2	-	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	ENSG00000105221		0.617	AKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT2	HGNC	protein_coding	OTTHUMT00000268029.1	119	0.83	1	A	NM_001626		40741972	40741972	-1	no_errors	ENST00000392038	ensembl	human	known	69_37n	missense	91	17.86	20	SNP	1.000	C
ALAS2	212	genome.wustl.edu	37	X	55052360	55052360	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:55052360A>C	ENST00000330807.5	-	2	211	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ALAS2_ENST00000396198.3_Missense_Mutation_p.V49G|ALAS2_ENST00000335854.4_Missense_Mutation_p.V25G	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	25					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	AGTCTTAACCACCTTGCCTAG	0.537																																						dbGAP											0													115.0	84.0	95.0					X																	55052360		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.74T>G	X.37:g.55052360A>C	ENSP00000332369:p.Val25Gly		A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.V25G	ENST00000330807.5	37	c.74	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	A	6.397	0.441391	0.12164	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.97256	-4.29;-4.31;-4.3	4.39	4.39	0.52855	5-aminolevulinate synthase presequence (1);	0.823783	0.10650	N	0.649925	D	0.93762	0.8006	L	0.29908	0.895	0.19945	N	0.99994	B;B;B	0.17465	0.011;0.022;0.011	B;B;B	0.27380	0.049;0.079;0.063	D	0.86577	0.1851	10	0.27785	T	0.31	0.0725	9.5332	0.39207	1.0:0.0:0.0:0.0	.	25;49;25	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	G	25;49;25	ENSP00000332369:V25G;ENSP00000379501:V49G;ENSP00000337131:V25G	ENSP00000332369:V25G	V	-	2	0	ALAS2	55069085	0.007000	0.16637	0.002000	0.10522	0.032000	0.12392	2.009000	0.40903	1.708000	0.51301	0.425000	0.28330	GTG	ALAS2	-	pfam_5aminolev_synth_preseq	ENSG00000158578		0.537	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	163	0.00	0	A	NM_000032		55052360	55052360	-1	no_errors	ENST00000330807	ensembl	human	known	69_37n	missense	114	13.43	18	SNP	0.003	C
ALDH3A1	218	genome.wustl.edu	37	17	19643676	19643676	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:19643676T>G	ENST00000457500.2	-	6	1251	c.922A>C	c.(922-924)Acc>Ccc	p.T308P	ALDH3A1_ENST00000225740.6_Missense_Mutation_p.T308P|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.T308P|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Intron|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.T235P	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	308					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		GCATCCCCGGTGCCCCCATAA	0.602																																						dbGAP											0													60.0	58.0	59.0					17																	19643676		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.922A>C	17.37:g.19643676T>G	ENSP00000411821:p.Thr308Pro		A8K828|Q9BT37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.T308P	ENST00000457500.2	37	c.922	CCDS11212.1	17	.	.	.	.	.	.	.	.	.	.	T	14.88	2.666772	0.47677	.	.	ENSG00000108602	ENST00000225740;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81	5.04	5.04	0.67666	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.622493	0.18118	N	0.151125	T	0.80560	0.4646	L	0.41492	1.28	0.22156	N	0.999329	B;P;B	0.37573	0.171;0.6;0.171	B;B;B	0.40702	0.139;0.338;0.139	T	0.74469	-0.3655	10	0.62326	D	0.03	-11.6052	8.5429	0.33404	0.0:0.0967:0.0:0.9033	.	308;425;308	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	P	308;366;308;308;235;308	ENSP00000225740:T308P;ENSP00000388469:T308P;ENSP00000411821:T308P;ENSP00000389766:T308P	ENSP00000225740:T308P	T	-	1	0	ALDH3A1	19584268	0.001000	0.12720	0.943000	0.38184	0.367000	0.29736	0.024000	0.13555	1.898000	0.54952	0.533000	0.62120	ACC	ALDH3A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000108602		0.602	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALDH3A1	HGNC	protein_coding	OTTHUMT00000132265.4	74	0.00	0	T	NM_000691		19643676	19643676	-1	no_errors	ENST00000225740	ensembl	human	known	69_37n	missense	33	31.25	15	SNP	0.426	G
ALDH3B1	221	genome.wustl.edu	37	11	67789196	67789196	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:67789196A>C	ENST00000539229.1	+	8	918	c.802A>C	c.(802-804)Acc>Ccc	p.T268P	ALDH3B1_ENST00000342456.6_Missense_Mutation_p.T232P|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Missense_Mutation_p.T268P	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	269					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										GAGCACCATCACCCGTTTCTA	0.647											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													94.0	106.0	102.0					11																	67789196		2200	4294	6494	-	-	-	SO:0001583	missense	0			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.802A>C	11.37:g.67789196A>C	ENSP00000474034:p.Thr268Pro	1102	A3FMP9|Q53XL5|Q8N515|Q96CK8	RNA	SNP	-	NULL	ENST00000539229.1	37	NULL		11																																																																																			ALDH3B1	-	-	ENSG00000006534		0.647	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	ALDH3B1	HGNC	protein_coding		105	0.00	0	A	NM_000694		67789196	67789196	+1	no_errors	ENST00000007633	ensembl	human	known	69_37n	rna	52	15.87	10	SNP	0.994	C
ALDOB	229	genome.wustl.edu	37	9	104192215	104192215	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:104192215A>C	ENST00000374855.4	-	3	270	c.146T>G	c.(145-147)gTg>gGg	p.V49G	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	49					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AGTGTTTTCCACCTTGATCCT	0.557																																						dbGAP											0			GRCh37	CD084020	ALDOB	D							101.0	101.0	101.0					9																	104192215		2203	4300	6503	-	-	-	SO:0001583	missense	0			X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.146T>G	9.37:g.104192215A>C	ENSP00000363988:p.Val49Gly		Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	pfam_Aldolase_I	p.V49G	ENST00000374855.4	37	c.146	CCDS6756.1	9	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312401	0.81358	.	.	ENSG00000136872	ENST00000374855;ENST00000430164	D	0.90676	-2.71	5.84	5.84	0.93424	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.95859	0.8652	M	0.93328	3.405	0.80722	D	1	D	0.59357	0.985	D	0.67900	0.954	D	0.96309	0.9227	10	0.87932	D	0	-13.0727	9.8187	0.40869	0.9241:0.0:0.0759:0.0	.	49	P05062	ALDOB_HUMAN	G	49	ENSP00000363988:V49G	ENSP00000363988:V49G	V	-	2	0	ALDOB	103232036	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.574000	0.82434	2.230000	0.72887	0.528000	0.53228	GTG	ALDOB	-	pfam_Aldolase_I	ENSG00000136872		0.557	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOB	HGNC	protein_coding	OTTHUMT00000053434.2	127	0.00	0	A			104192215	104192215	-1	no_errors	ENST00000374855	ensembl	human	known	69_37n	missense	155	11.73	21	SNP	1.000	C
ALDOC	230	genome.wustl.edu	37	17	26902013	26902013	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:26902013A>C	ENST00000226253.4	-	4	811	c.336T>G	c.(334-336)ggT>ggG	p.G112G	ALDOC_ENST00000395321.2_Silent_p.G112G|RP11-192H23.5_ENST00000585189.1_RNA|ALDOC_ENST00000395319.3_Silent_p.G112G	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	112					aging (GO:0007568)|apoptotic process (GO:0006915)|carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|organ regeneration (GO:0031100)|protein heterotetramerization (GO:0051290)|protein homotetramerization (GO:0051289)|response to hypoxia (GO:0001666)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	cytoskeletal protein binding (GO:0008092)|fructose-bisphosphate aldolase activity (GO:0004332)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GAGGCACCACACCCTTGTCAA	0.498											OREG0024278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													93.0	86.0	88.0					17																	26902013		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF054987	CCDS11236.1	17q11.2	2013-09-20			ENSG00000109107	ENSG00000109107	4.1.2.13		418	protein-coding gene	gene with protein product		103870					Standard	XM_005257947		Approved		uc002hbp.3	P09972	OTTHUMG00000132605	ENST00000226253.4:c.336T>G	17.37:g.26902013A>C		790	B2R5R3|Q3SYL3|Q6FH94|Q6P0L5	Silent	SNP	pfam_Aldolase_I	p.G112	ENST00000226253.4	37	c.336	CCDS11236.1	17																																																																																			ALDOC	-	pfam_Aldolase_I	ENSG00000109107		0.498	ALDOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDOC	HGNC	protein_coding	OTTHUMT00000255839.4	178	0.00	0	A			26902013	26902013	-1	no_errors	ENST00000226253	ensembl	human	known	69_37n	silent	116	10.77	14	SNP	1.000	C
ALG12	79087	genome.wustl.edu	37	22	50301450	50301450	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:50301450A>G	ENST00000330817.6	-	7	1184	c.911T>C	c.(910-912)cTc>cCc	p.L304P		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	304					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|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 membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		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)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GTGTGGCAGGAGGGAGTAGAG	0.597																																						dbGAP											0													136.0	120.0	125.0					22																	50301450		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.911T>C	22.37:g.50301450A>G	ENSP00000333813:p.Leu304Pro		A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.L304P	ENST00000330817.6	37	c.911	CCDS14081.1	22	.	.	.	.	.	.	.	.	.	.	A	13.23	2.176150	0.38413	.	.	ENSG00000182858	ENST00000330817	T	0.69175	-0.38	4.28	4.28	0.50868	.	0.292346	0.32935	N	0.005469	T	0.80518	0.4638	M	0.85859	2.78	0.58432	D	0.999996	D	0.56968	0.978	P	0.60682	0.878	T	0.82837	-0.0260	10	0.46703	T	0.11	-18.5428	13.8718	0.63624	1.0:0.0:0.0:0.0	.	304	Q9BV10	ALG12_HUMAN	P	304	ENSP00000333813:L304P	ENSP00000333813:L304P	L	-	2	0	ALG12	48687454	1.000000	0.71417	0.034000	0.17996	0.022000	0.10575	7.108000	0.77055	1.926000	0.55796	0.533000	0.62120	CTC	ALG12	-	pfam_GPI_mannosylTrfase	ENSG00000182858		0.597	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG12	HGNC	protein_coding	OTTHUMT00000317405.2	110	0.90	1	A	NM_024105		50301450	50301450	-1	no_errors	ENST00000330817	ensembl	human	known	69_37n	missense	71	16.47	14	SNP	0.483	G
ALG12	79087	genome.wustl.edu	37	22	50302935	50302935	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:50302935A>C	ENST00000330817.6	-	6	998	c.725T>G	c.(724-726)gTg>gGg	p.V242G		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	242					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|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 membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		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)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GTACCAAAGCACCTTTCCTTC	0.517																																						dbGAP											0													119.0	105.0	110.0					22																	50302935		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.725T>G	22.37:g.50302935A>C	ENSP00000333813:p.Val242Gly		A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	pfam_GPI_mannosylTrfase	p.V242G	ENST00000330817.6	37	c.725	CCDS14081.1	22	.	.	.	.	.	.	.	.	.	.	A	21.1	4.096407	0.76870	.	.	ENSG00000182858	ENST00000330817	T	0.65549	-0.16	4.92	4.92	0.64577	.	0.059249	0.64402	D	0.000003	T	0.72843	0.3511	L	0.58101	1.795	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.68704	-0.5338	10	0.15499	T	0.54	-8.678	14.9199	0.70829	1.0:0.0:0.0:0.0	.	242	Q9BV10	ALG12_HUMAN	G	242	ENSP00000333813:V242G	ENSP00000333813:V242G	V	-	2	0	ALG12	48688939	1.000000	0.71417	0.056000	0.19401	0.916000	0.54674	8.748000	0.91615	1.995000	0.58328	0.529000	0.55759	GTG	ALG12	-	pfam_GPI_mannosylTrfase	ENSG00000182858		0.517	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG12	HGNC	protein_coding	OTTHUMT00000317405.2	156	0.00	0	A	NM_024105		50302935	50302935	-1	no_errors	ENST00000330817	ensembl	human	known	69_37n	missense	93	19.13	22	SNP	1.000	C
ALPK2	115701	genome.wustl.edu	37	18	56246892	56246892	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:56246892A>C	ENST00000361673.3	-	4	1329	c.1116T>G	c.(1114-1116)ggT>ggG	p.G372G	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	372						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCTCACACCCACCCAGGCAAT	0.522											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													126.0	113.0	117.0					18																	56246892		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1116T>G	18.37:g.56246892A>C		1014	Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.G372	ENST00000361673.3	37	c.1116	CCDS11966.2	18																																																																																			ALPK2	-	NULL	ENSG00000198796		0.522	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	254	0.39	1	A	NM_052947		56246892	56246892	-1	no_errors	ENST00000361673	ensembl	human	known	69_37n	silent	176	10.05	20	SNP	1.000	C
ALPK3	57538	genome.wustl.edu	37	15	85399891	85399891	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:85399891T>G	ENST00000258888.5	+	6	2695	c.2528T>G	c.(2527-2529)gTg>gGg	p.V843G		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	843					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAGACGCAGGTGGATGCTGGG	0.532																																						dbGAP											0													161.0	134.0	143.0					15																	85399891		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.2528T>G	15.37:g.85399891T>G	ENSP00000258888:p.Val843Gly		Q9P2L6	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.V843G	ENST00000258888.5	37	c.2528	CCDS10333.1	15	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306176	0.23736	.	.	ENSG00000136383	ENST00000258888	T	0.61040	0.14	4.06	-7.78	0.01223	.	1.936410	0.02948	N	0.141357	T	0.36026	0.0952	L	0.29908	0.895	0.23776	N	0.996878	B	0.30068	0.267	B	0.25140	0.058	T	0.24261	-1.0165	10	0.66056	D	0.02	0.0765	1.2921	0.02062	0.2307:0.3313:0.1172:0.3209	.	843	Q96L96	ALPK3_HUMAN	G	843	ENSP00000258888:V843G	ENSP00000258888:V843G	V	+	2	0	ALPK3	83200895	0.044000	0.20184	0.000000	0.03702	0.000000	0.00434	-0.787000	0.04618	-1.097000	0.03042	-1.824000	0.00597	GTG	ALPK3	-	NULL	ENSG00000136383		0.532	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK3	HGNC	protein_coding	OTTHUMT00000308997.1	263	0.74	2	T	NM_020778		85399891	85399891	+1	no_errors	ENST00000258888	ensembl	human	known	69_37n	missense	143	14.88	25	SNP	0.008	G
AMBRA1	55626	genome.wustl.edu	37	11	46567268	46567268	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:46567268T>G	ENST00000458649.2	-	5	855	c.437A>C	c.(436-438)cAc>cCc	p.H146P	AMBRA1_ENST00000534300.1_Missense_Mutation_p.H146P|AMBRA1_ENST00000533727.1_Missense_Mutation_p.H146P|AMBRA1_ENST00000528950.1_Missense_Mutation_p.H146P|AMBRA1_ENST00000298834.3_Missense_Mutation_p.H146P|AMBRA1_ENST00000426438.1_Missense_Mutation_p.H146P|AMBRA1_ENST00000314845.3_Missense_Mutation_p.H146P			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	146					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)		AGCCGTAGGGTGGAAAGCCAG	0.517																																						dbGAP											0													106.0	89.0	95.0					11																	46567268		2201	4299	6500	-	-	-	SO:0001583	missense	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.437A>C	11.37:g.46567268T>G	ENSP00000415327:p.His146Pro		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H146P	ENST00000458649.2	37	c.437		11	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178483	0.78564	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59636	0.2208	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.991;0.997;0.997;0.996;0.996;0.996	T	0.64655	-0.6356	10	0.87932	D	0	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	146;146;146;146;146;146	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	P	146	ENSP00000318313:H146P;ENSP00000433372:H146P;ENSP00000431926:H146P;ENSP00000410899:H146P;ENSP00000298834:H146P;ENSP00000415327:H146P;ENSP00000433945:H146P	ENSP00000298834:H146P	H	-	2	0	AMBRA1	46523844	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.915000	0.87484	2.270000	0.75569	0.482000	0.46254	CAC	AMBRA1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000110497		0.517	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	116	0.85	1	T	NM_017749		46567268	46567268	-1	no_errors	ENST00000458649	ensembl	human	known	69_37n	missense	59	14.49	10	SNP	1.000	G
AMHR2	269	genome.wustl.edu	37	12	53824046	53824046	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:53824046A>C	ENST00000257863.4	+	10	1485	c.1405A>C	c.(1405-1407)Acc>Ccc	p.T469P	AMHR2_ENST00000379791.3_Intron|AMHR2_ENST00000550311.1_Silent_p.P467P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CATCCCATCCACCTGGCGCTG	0.597																																						dbGAP											0													172.0	146.0	155.0					12																	53824046		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1405A>C	12.37:g.53824046A>C	ENSP00000257863:p.Thr469Pro		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	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,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom	p.T469P	ENST00000257863.4	37	c.1405	CCDS8858.1	12	.	.	.	.	.	.	.	.	.	.	A	15.89	2.965873	0.53507	.	.	ENSG00000135409	ENST00000257863	D	0.93247	-3.19	5.09	-0.189	0.13260	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.392960	0.18831	N	0.129974	D	0.90287	0.6962	.	.	.	0.50813	D	0.999891	P	0.50819	0.939	P	0.49887	0.625	D	0.84031	0.0359	9	0.35671	T	0.21	.	3.0107	0.06044	0.4163:0.0:0.2573:0.3264	.	469	Q16671	AMHR2_HUMAN	P	469	ENSP00000257863:T469P	ENSP00000257863:T469P	T	+	1	0	AMHR2	52110313	0.621000	0.27077	0.176000	0.23000	0.974000	0.67602	0.870000	0.28010	-0.100000	0.12241	0.455000	0.32223	ACC	AMHR2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom	ENSG00000135409		0.597	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	HGNC	protein_coding	OTTHUMT00000407048.1	145	0.68	1	A	NM_020547		53824046	53824046	+1	no_errors	ENST00000257863	ensembl	human	known	69_37n	missense	103	16.00	20	SNP	0.238	C
AMIGO1	57463	genome.wustl.edu	37	1	110050151	110050151	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:110050151T>G	ENST00000369864.4	-	2	1733	c.1384A>C	c.(1384-1386)Acc>Ccc	p.T462P	AMIGO1_ENST00000369862.1_Missense_Mutation_p.T462P					adhesion molecule with Ig-like domain 1											autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		ACTGGCAGGGTGTTGCCTGGC	0.597																																						dbGAP											0													110.0	95.0	100.0					1																	110050151		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30795.1	1p13.3	2013-01-11			ENSG00000181754	ENSG00000181754		"""Immunoglobulin superfamily / V-set domain containing"""	20824	protein-coding gene	gene with protein product	"""amphoterin-induced gene and open reading frame"""	615689				12629050	Standard	NM_020703		Approved	AMIGO, KIAA1163	uc001dxx.4	Q86WK6	OTTHUMG00000011653	ENST00000369864.4:c.1384A>C	1.37:g.110050151T>G	ENSP00000358880:p.Thr462Pro			Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like	p.T462P	ENST00000369864.4	37	c.1384	CCDS30795.1	1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.847433	0.32606	.	.	ENSG00000181754	ENST00000369864;ENST00000369862	T;T	0.51817	0.69;0.69	6.17	6.17	0.99709	.	0.359183	0.24691	N	0.036386	T	0.16085	0.0387	N	0.08118	0	0.38092	D	0.936988	P	0.48764	0.915	B	0.42062	0.374	T	0.07927	-1.0747	10	0.46703	T	0.11	-10.9108	9.6218	0.39725	0.2468:0.0:0.0:0.7532	.	462	Q86WK6	AMGO1_HUMAN	P	462	ENSP00000358880:T462P;ENSP00000358878:T462P	ENSP00000358878:T462P	T	-	1	0	AMIGO1	109851674	0.069000	0.21087	1.000000	0.80357	0.844000	0.47949	0.142000	0.16096	2.371000	0.80710	0.533000	0.62120	ACC	AMIGO1	-	NULL	ENSG00000181754		0.597	AMIGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMIGO1	HGNC	protein_coding	OTTHUMT00000032247.1	102	0.96	1	T	NM_020703		110050151	110050151	-1	no_errors	ENST00000369862	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	1.000	G
AMOT	154796	genome.wustl.edu	37	X	112035178	112035178	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:112035178A>C	ENST00000524145.1	-	7	1882	c.1808T>G	c.(1807-1809)gTg>gGg	p.V603G	AMOT_ENST00000371962.1_Missense_Mutation_p.V371G|AMOT_ENST00000304758.1_Missense_Mutation_p.V194G|AMOT_ENST00000371959.3_Missense_Mutation_p.V603G|AMOT_ENST00000371958.1_Missense_Mutation_p.V371G			Q4VCS5	AMOT_HUMAN	angiomotin	603					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CATCTTCTCCACCTTGTCAAC	0.483																																						dbGAP											0													167.0	129.0	142.0					X																	112035178		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1808T>G	X.37:g.112035178A>C	ENSP00000429013:p.Val603Gly		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.V603G	ENST00000524145.1	37	c.1808	CCDS48154.1	X	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619765	0.87460	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.32272	2.05;2.02;2.0;2.02;1.46	5.83	5.83	0.93111	Angiomotin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.59354	-0.7470	10	0.40728	T	0.16	-14.5983	14.2322	0.65901	1.0:0.0:0.0:0.0	.	603	Q4VCS5	AMOT_HUMAN	G	194;603;371;603;371	ENSP00000305557:V194G;ENSP00000361027:V603G;ENSP00000361030:V371G;ENSP00000429013:V603G;ENSP00000361026:V371G	ENSP00000305557:V194G	V	-	2	0	AMOT	111921834	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.339000	0.96797	1.959000	0.56917	0.486000	0.48141	GTG	AMOT	-	pfam_Angiomotin_C,prints_Angiomotin	ENSG00000126016		0.483	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	173	0.57	1	A	NM_133265		112035178	112035178	-1	no_errors	ENST00000371959	ensembl	human	known	69_37n	missense	208	12.61	30	SNP	1.000	C
AMOT	154796	genome.wustl.edu	37	X	112065611	112065611	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:112065611T>G	ENST00000524145.1	-	2	818	c.744A>C	c.(742-744)ccA>ccC	p.P248P	AMOT_ENST00000371962.1_Silent_p.P16P|AMOT_ENST00000462114.1_5'Flank|AMOT_ENST00000304758.1_Intron|AMOT_ENST00000371959.3_Silent_p.P248P|AMOT_ENST00000371958.1_Silent_p.P16P			Q4VCS5	AMOT_HUMAN	angiomotin	248					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CAGATTGGGGTGGCATGCCCT	0.562																																						dbGAP											0													125.0	104.0	110.0					X																	112065611		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.744A>C	X.37:g.112065611T>G			Q504X5|Q9HD27|Q9UPT1	Silent	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.P248	ENST00000524145.1	37	c.744	CCDS48154.1	X																																																																																			AMOT	-	NULL	ENSG00000126016		0.562	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	231	0.85	2	T	NM_133265		112065611	112065611	-1	no_errors	ENST00000371959	ensembl	human	known	69_37n	silent	190	12.73	28	SNP	0.995	G
AMOTL1	154810	genome.wustl.edu	37	11	94532825	94532825	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:94532825C>T	ENST00000433060.2	+	3	610	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	AMOTL1_ENST00000317837.9_Missense_Mutation_p.R157C|AMOTL1_ENST00000317829.8_Missense_Mutation_p.R107C	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	157					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCAGTCAGCACGCCAAGAACC	0.552																																						dbGAP											0													71.0	76.0	74.0					11																	94532825		2127	4245	6372	-	-	-	SO:0001583	missense	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.469C>T	11.37:g.94532825C>T	ENSP00000387739:p.Arg157Cys		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.R157C	ENST00000433060.2	37	c.469	CCDS44712.1	11	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964462	0.53507	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.08102	3.13;3.13;3.13	5.04	5.04	0.67666	.	0.088725	0.44285	D	0.000478	T	0.27832	0.0685	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.973;0.996	T	0.00684	-1.1611	9	.	.	.	-12.1894	13.3515	0.60605	0.1579:0.8421:0.0:0.0	.	107;157	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	C	107;163;157;157	ENSP00000320968:R107C;ENSP00000323474:R157C;ENSP00000387739:R157C	.	R	+	1	0	AMOTL1	94172473	0.992000	0.36948	1.000000	0.80357	0.992000	0.81027	2.060000	0.41394	2.339000	0.79563	0.555000	0.69702	CGC	AMOTL1	-	NULL	ENSG00000166025		0.552	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	126	0.00	0	C	NM_130847		94532825	94532825	+1	no_errors	ENST00000433060	ensembl	human	known	69_37n	missense	42	40.00	28	SNP	1.000	T
ANAPC16	119504	genome.wustl.edu	37	10	73983705	73983705	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:73983705T>G	ENST00000299381.4	+	2	151	c.33T>G	c.(31-33)ggT>ggG	p.G11G	ANAPC16_ENST00000470481.2_3'UTR	NM_001242546.1|NM_001242547.1|NM_001242548.1|NM_173473.3	NP_001229475.1|NP_001229476.1|NP_001229477.1|NP_775744.1	Q96DE5	APC16_HUMAN	anaphase promoting complex subunit 16	11	Ser-rich.				mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	anaphase-promoting complex (GO:0005680)|cytoplasm (GO:0005737)				large_intestine(1)|ovary(1)	2						CCTCAGCTGGTGGGGTCAGTG	0.488																																						dbGAP											0													168.0	150.0	156.0					10																	73983705		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC009530	CCDS7314.1, CCDS73147.1	10q22.2	2011-08-12	2010-04-06	2010-04-06	ENSG00000166295	ENSG00000166295		"""Anaphase promoting complex subunits"""	26976	protein-coding gene	gene with protein product	"""centromere protein 27"""	613427	"""chromosome 10 open reading frame 104"""	C10orf104		14702039, 20360068	Standard	NM_001242546		Approved	bA570G20.3, FLJ33728, APC16, CENP-27	uc021psp.1	Q96DE5	OTTHUMG00000018433	ENST00000299381.4:c.33T>G	10.37:g.73983705T>G				Silent	SNP	NULL	p.G11	ENST00000299381.4	37	c.33	CCDS7314.1	10																																																																																			ANAPC16	-	NULL	ENSG00000166295		0.488	ANAPC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC16	HGNC	protein_coding	OTTHUMT00000048565.2	176	0.56	1	T	NM_173473		73983705	73983705	+1	no_errors	ENST00000299381	ensembl	human	known	69_37n	silent	153	12.07	21	SNP	0.954	G
ANKFY1	51479	genome.wustl.edu	37	17	4074080	4074080	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:4074080A>C	ENST00000341657.4	-	23	3250	c.3215T>G	c.(3214-3216)gTg>gGg	p.V1072G	ANKFY1_ENST00000570535.1_Missense_Mutation_p.V1114G|ANKFY1_ENST00000574367.1_Missense_Mutation_p.V1073G|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1072					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTTGTTATTCACCCCGAGGCG	0.597																																						dbGAP											0													84.0	100.0	95.0					17																	4074080		2198	4297	6495	-	-	-	SO:0001583	missense	0			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3215T>G	17.37:g.4074080A>C	ENSP00000343362:p.Val1072Gly		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.V1114G	ENST00000341657.4	37	c.3341		17	.	.	.	.	.	.	.	.	.	.	A	16.82	3.229672	0.58777	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.43	4.15	0.48705	Ankyrin repeat-containing domain (3);	0.260159	0.32459	N	0.006080	T	0.45034	0.1322	L	0.33339	1.005	0.80722	D	1	B;B;B;B	0.27416	0.178;0.049;0.082;0.137	B;B;B;B	0.31101	0.124;0.026;0.058;0.058	T	0.34700	-0.9818	9	0.23891	T	0.37	-21.6385	11.113	0.48243	0.915:0.0:0.085:0.0	.	1014;1072;1073;1114	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	G	1073;1014	.	ENSP00000343362:V1073G	V	-	2	0	ANKFY1	4020829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.469000	0.80959	2.066000	0.61787	0.533000	0.62120	GTG	ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000185722		0.597	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	162	0.61	1	A	NM_016376		4074080	4074080	-1	no_errors	ENST00000570535	ensembl	human	known	69_37n	missense	71	17.98	16	SNP	0.992	C
ANKHD1	54882	genome.wustl.edu	37	5	139818175	139818175	+	Missense_Mutation	SNP	A	A	C	rs145777936		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:139818175A>C	ENST00000360839.2	+	3	744	c.590A>C	c.(589-591)aAc>aCc	p.N197T	ANKHD1_ENST00000297183.6_Missense_Mutation_p.N197T|ANKHD1_ENST00000394722.3_Missense_Mutation_p.N186T|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.N197T|ANKHD1_ENST00000394723.3_Missense_Mutation_p.N197T	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	197						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGCAGAAAACAGCCACAAT	0.428																																						dbGAP											0													157.0	141.0	146.0					5																	139818175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.590A>C	5.37:g.139818175A>C	ENSP00000354085:p.Asn197Thr		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.N197T	ENST00000360839.2	37	c.590	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	A	14.41	2.527766	0.44969	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.68765	-0.17;-0.21;-0.14;-0.03;-0.35;0.21;-0.21	5.8	3.29	0.37713	.	0.153604	0.56097	N	0.000032	T	0.49253	0.1546	N	0.25426	0.745	0.53688	D	0.999971	B;B;B;B;B	0.14012	0.009;0.006;0.002;0.001;0.008	B;B;B;B;B	0.18561	0.009;0.007;0.005;0.007;0.022	T	0.25641	-1.0126	10	0.22706	T	0.39	.	8.8801	0.35370	0.8064:0.1272:0.0663:0.0	.	197;197;197;186;197	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	T	197;211;197;197;197;197;183;186;197	ENSP00000354085:N197T;ENSP00000297183:N197T;ENSP00000394489:N197T;ENSP00000378212:N197T;ENSP00000421069:N183T;ENSP00000378211:N186T;ENSP00000432016:N197T	ENSP00000432016:N197T	N	+	2	0	ANKHD1-EIF4EBP3;ANKHD1	139798359	1.000000	0.71417	0.430000	0.26722	0.864000	0.49448	4.956000	0.63645	0.403000	0.25479	0.528000	0.53228	AAC	ANKHD1	-	NULL	ENSG00000131503		0.428	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	149	0.67	1	A	NM_017747		139818175	139818175	+1	no_errors	ENST00000297183	ensembl	human	known	69_37n	missense	88	20.72	23	SNP	1.000	C
ANKRD2	26287	genome.wustl.edu	37	10	99342115	99342115	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:99342115T>G	ENST00000307518.5	+	7	1046	c.779T>G	c.(778-780)gTg>gGg	p.V260G	PI4K2A_ENST00000555577.1_5'Flank|ANKRD2_ENST00000455090.1_Intron|ANKRD2_ENST00000298808.5_Intron|PI4K2A_ENST00000370649.3_5'Flank|HOGA1_ENST00000370647.4_5'Flank|HOGA1_ENST00000370646.4_5'Flank|ANKRD2_ENST00000370655.1_Missense_Mutation_p.V233G			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	260					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		ACAGGGCAGGTGGAGATTGTG	0.617																																						dbGAP											0													60.0	46.0	51.0					10																	99342115		2186	4285	6471	-	-	-	SO:0001583	missense	0			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.779T>G	10.37:g.99342115T>G	ENSP00000306163:p.Val260Gly		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	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.V260G	ENST00000307518.5	37	c.779	CCDS7466.1	10	.	.	.	.	.	.	.	.	.	.	T	9.058	0.993673	0.19043	.	.	ENSG00000165887	ENST00000307518;ENST00000370655	T;T	0.66638	-0.22;-0.22	5.6	4.45	0.53987	Ankyrin repeat-containing domain (4);	0.188290	0.35708	N	0.003039	T	0.54303	0.1850	L	0.51422	1.61	0.47276	D	0.999373	P	0.43231	0.801	B	0.38106	0.265	T	0.49597	-0.8923	10	0.26408	T	0.33	-35.536	6.6384	0.22895	0.0:0.0782:0.1568:0.765	.	260	Q9GZV1	ANKR2_HUMAN	G	260;233	ENSP00000306163:V260G;ENSP00000359689:V233G	ENSP00000306163:V260G	V	+	2	0	ANKRD2	99332105	0.000000	0.05858	0.908000	0.35775	0.001000	0.01503	-0.383000	0.07398	0.937000	0.37394	-0.313000	0.08912	GTG	ANKRD2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000165887		0.617	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD2	HGNC	protein_coding		121	0.00	0	T			99342115	99342115	+1	no_errors	ENST00000307518	ensembl	human	known	69_37n	missense	66	17.07	14	SNP	0.664	G
ANPEP	290	genome.wustl.edu	37	15	90344805	90344805	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:90344805T>G	ENST00000300060.6	-	11	1916	c.1603A>C	c.(1603-1605)Acc>Ccc	p.T535P	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	535	Metalloprotease.				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)	TCCCGCACGGTGGTGGGGAGT	0.637																																					NSCLC(30;827 977 2459 19669 26125)	dbGAP											0													130.0	119.0	123.0					15																	90344805		2200	4299	6499	-	-	-	SO:0001583	missense	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.1603A>C	15.37:g.90344805T>G	ENSP00000300060:p.Thr535Pro		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.T535P	ENST00000300060.6	37	c.1603	CCDS10356.1	15	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801565	0.31869	.	.	ENSG00000166825	ENST00000300060	T	0.04970	3.52	5.27	-10.5	0.00291	.	0.521766	0.21776	N	0.069286	T	0.02267	0.0070	N	0.16368	0.405	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36040	-0.9764	10	0.18276	T	0.48	.	7.8494	0.29446	0.5755:0.0:0.1721:0.2524	.	535	P15144	AMPN_HUMAN	P	535	ENSP00000300060:T535P	ENSP00000300060:T535P	T	-	1	0	ANPEP	88145809	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-2.088000	0.01359	-1.326000	0.02266	-0.333000	0.08304	ACC	ANPEP	-	NULL	ENSG00000166825		0.637	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	186	0.52	1	T			90344805	90344805	-1	no_errors	ENST00000300060	ensembl	human	known	69_37n	missense	143	13.77	23	SNP	0.000	G
ANPEP	290	genome.wustl.edu	37	15	90348550	90348550	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:90348550A>C	ENST00000300060.6	-	3	1071		c.e3+1		ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase						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)	GGGCCCACTCACCTTTGGGAA	0.642																																					NSCLC(30;827 977 2459 19669 26125)	dbGAP											0													128.0	123.0	125.0					15																	90348550		2200	4299	6499	-	-	-	SO:0001630	splice_region_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.757+1T>G	15.37:g.90348550A>C			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Splice_Site	SNP	-	e2+2	ENST00000300060.6	37	c.757+2	CCDS10356.1	15	.	.	.	.	.	.	.	.	.	.	A	9.840	1.190779	0.21954	.	.	ENSG00000166825	ENST00000300060	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4063	0.44258	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANPEP	88149554	0.387000	0.25188	1.000000	0.80357	0.305000	0.27757	2.080000	0.41586	1.722000	0.51474	0.379000	0.24179	.	ANPEP	-	-	ENSG00000166825		0.642	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	185	0.00	0	A		Intron	90348550	90348550	-1	no_errors	ENST00000300060	ensembl	human	known	69_37n	splice_site	149	10.59	18	SNP	0.983	C
ANXA13	312	genome.wustl.edu	37	8	124748001	124748001	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:124748001T>G	ENST00000419625.1	-	1	88				ANXA13_ENST00000262219.6_Silent_p.P44P	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13						cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			TTACAGGCTGTGGGGCCTCTG	0.552																																						dbGAP											0													131.0	132.0	132.0					8																	124748001		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.15+1558A>C	8.37:g.124748001T>G			Q9BQR5	Silent	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII	p.P44	ENST00000419625.1	37	c.132	CCDS47917.1	8																																																																																			ANXA13	-	prints_AnnexinXIII	ENSG00000104537		0.552	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA13	HGNC	protein_coding	OTTHUMT00000381308.1	247	0.00	0	T	NM_004306		124748001	124748001	-1	no_errors	ENST00000262219	ensembl	human	known	69_37n	silent	220	10.48	26	SNP	0.002	G
AP1B1	162	genome.wustl.edu	37	22	29736711	29736711	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:29736711T>G	ENST00000405198.1	-	13	1963	c.1932A>C	c.(1930-1932)ccA>ccC	p.P644P	AP1B1_ENST00000317368.7_Silent_p.P644P|AP1B1_ENST00000357586.2_Silent_p.P644P|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000415447.1_Silent_p.P644P|AP1B1_ENST00000402502.1_Silent_p.P644P|AP1B1_ENST00000356015.2_Silent_p.P644P|AP1B1_ENST00000432560.2_Silent_p.P644P			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	644	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGCCAGGGGTGGGCCGCTCA	0.657																																						dbGAP											0													18.0	19.0	19.0					22																	29736711		2196	4292	6488	-	-	-	SO:0001819	synonymous_variant	0			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1932A>C	22.37:g.29736711T>G			C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu	p.P644	ENST00000405198.1	37	c.1932	CCDS13855.1	22																																																																																			AP1B1	-	pirsf_AP_complex_bsu	ENSG00000100280		0.657	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	30	0.00	0	T	NM_001127		29736711	29736711	-1	no_errors	ENST00000357586	ensembl	human	known	69_37n	silent	33	17.50	7	SNP	0.800	G
AP2B1	163	genome.wustl.edu	37	17	33954684	33954684	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:33954684T>G	ENST00000262325.7	+	9	1647	c.1094T>G	c.(1093-1095)gTg>gGg	p.V365G	AP2B1_ENST00000312678.8_Missense_Mutation_p.V365G|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.V365G|AP2B1_ENST00000592545.1_Missense_Mutation_p.V327G|AP2B1_ENST00000538556.1_Missense_Mutation_p.V308G|AP2B1_ENST00000589344.1_Missense_Mutation_p.V365G	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	365					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GCTACAGAGGTGGATGTTGAC	0.453																																						dbGAP											0													127.0	119.0	121.0					17																	33954684		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1094T>G	17.37:g.33954684T>G	ENSP00000262325:p.Val365Gly		A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu	p.V365G	ENST00000262325.7	37	c.1094	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	T	23.1	4.377393	0.82682	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.95	5.95	0.96441	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.60689	0.2288	M	0.85630	2.765	0.80722	D	1	D;P;P;B	0.69078	0.997;0.559;0.833;0.13	D;B;P;B	0.79784	0.993;0.414;0.636;0.227	T	0.66476	-0.5914	10	0.66056	D	0.02	4.9384	15.5927	0.76550	0.0:0.0:0.0:1.0	.	102;327;365;365	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	G	365;365;308;365;102	ENSP00000262325:V365G;ENSP00000314414:V365G;ENSP00000440563:V308G;ENSP00000437413:V365G	ENSP00000262325:V365G	V	+	2	0	AP2B1	30978797	1.000000	0.71417	0.954000	0.39281	0.986000	0.74619	7.958000	0.87877	2.276000	0.75962	0.528000	0.53228	GTG	AP2B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu	ENSG00000006125		0.453	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	230	0.00	0	T			33954684	33954684	+1	no_errors	ENST00000312678	ensembl	human	known	69_37n	missense	259	10.65	31	SNP	0.930	G
AP2M1	1173	genome.wustl.edu	37	3	183898461	183898461	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:183898461A>C	ENST00000292807.5	+	5	577				AP2M1_ENST00000439647.1_Intron|AP2M1_ENST00000411763.2_Intron|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000461733.1_Intron|AP2M1_ENST00000382456.3_Intron	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCAGCTTCCACCCTTGCAGC	0.557																																						dbGAP											0													126.0	123.0	124.0					3																	183898461		1971	4155	6126	-	-	-	SO:0001627	intron_variant	0			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.429+23A>C	3.37:g.183898461A>C			A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,prints_Clathrin_mu	p.H151P	ENST00000292807.5	37	c.452	CCDS43177.1	3	.	.	.	.	.	.	.	.	.	.	A	11.35	1.613151	0.28712	.	.	ENSG00000161203	ENST00000431779	.	.	.	4.87	-7.1	0.01547	.	.	.	.	.	T	0.15435	0.0372	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22836	-1.0205	4	.	.	.	.	1.3471	0.02165	0.337:0.1122:0.3239:0.2268	.	.	.	.	P	151	.	.	H	+	2	0	AP2M1	185381155	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.707000	0.01893	-1.402000	0.02056	-1.447000	0.01057	CAC	AP2M1	-	NULL	ENSG00000161203		0.557	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	191	0.00	0	A	NM_004068		183898461	183898461	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000431779	ensembl	human	novel	69_37n	missense	236	14.34	40	SNP	0.000	C
APBB2	323	genome.wustl.edu	37	4	40946936	40946936	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:40946936A>C	ENST00000295974.8	-	7	1616	c.987T>G	c.(985-987)ggT>ggG	p.G329G	APBB2_ENST00000513140.1_Silent_p.G329G|APBB2_ENST00000506352.1_Silent_p.G329G|APBB2_ENST00000508593.1_Silent_p.G330G	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	329					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTTTCCTAGAACCCTGGAGAT	0.498																																					Ovarian(3;20 75 16686 49997)	dbGAP											0													110.0	110.0	110.0					4																	40946936		1968	4168	6136	-	-	-	SO:0001819	synonymous_variant	0			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.987T>G	4.37:g.40946936A>C			B4DSL4|E9PG87|Q8IUI6	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.F320V	ENST00000295974.8	37	c.958	CCDS54761.1	4	.	.	.	.	.	.	.	.	.	.	A	3.861	-0.029859	0.07543	.	.	ENSG00000163697	ENST00000513611	.	.	.	6.02	-8.08	0.01094	.	.	.	.	.	T	0.60353	0.2262	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.66654	-0.5869	4	.	.	.	-11.7544	14.9796	0.71301	0.1423:0.0:0.6804:0.1773	.	.	.	.	V	320	.	.	F	-	1	0	APBB2	40641693	0.187000	0.23238	0.354000	0.25760	0.272000	0.26649	-0.405000	0.07196	-1.272000	0.02427	-0.250000	0.11733	TTC	APBB2	-	NULL	ENSG00000163697		0.498	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	APBB2	HGNC	protein_coding	OTTHUMT00000360523.3	111	0.00	0	A	NM_173075		40946936	40946936	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000513611	ensembl	human	novel	69_37n	missense	109	12.10	15	SNP	0.642	C
APOB	338	genome.wustl.edu	37	2	21227221	21227221	+	Missense_Mutation	SNP	A	A	G	rs193029345		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:21227221A>G	ENST00000233242.1	-	28	12134	c.12007T>C	c.(12007-12009)Tcc>Ccc	p.S4003P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4003					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGGCTGGGGAGGCTGCTGAG	0.498																																						dbGAP											0													108.0	106.0	106.0					2																	21227221		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12007T>C	2.37:g.21227221A>G	ENSP00000233242:p.Ser4003Pro		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.S4003P	ENST00000233242.1	37	c.12007	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	A	14.03	2.413464	0.42817	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.19394	2.15	5.99	5.99	0.97316	.	0.199070	0.35838	N	0.002952	T	0.45538	0.1347	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	P	0.61477	0.889	T	0.44375	-0.9332	10	0.72032	D	0.01	.	16.4943	0.84223	1.0:0.0:0.0:0.0	.	4003	P04114	APOB_HUMAN	P	4003	ENSP00000233242:S4003P	ENSP00000233242:S4003P	S	-	1	0	APOB	21080726	1.000000	0.71417	0.996000	0.52242	0.059000	0.15707	5.223000	0.65283	2.291000	0.77112	0.533000	0.62120	TCC	APOB	-	NULL	ENSG00000084674		0.498	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	146	0.67	1	A			21227221	21227221	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	missense	229	23.41	70	SNP	1.000	G
APOC4	346	genome.wustl.edu	37	19	45448078	45448078	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:45448078T>G	ENST00000592954.1	+	2	189	c.149T>G	c.(148-150)gTg>gGg	p.V50G	APOC2_ENST00000590360.1_5'Flank|APOC2_ENST00000252490.4_5'Flank|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.V50G|APOC2_ENST00000591597.1_5'Flank|APOC4_ENST00000591600.1_Missense_Mutation_p.V50G|APOC2_ENST00000592257.1_5'Flank|APOC4_ENST00000419266.2_Missense_Mutation_p.V50G	NM_001646.2	NP_001637.1	P55056	APOC4_HUMAN	apolipoprotein C-IV	50					lipid metabolic process (GO:0006629)|positive regulation of sequestering of triglyceride (GO:0010890)|triglyceride homeostasis (GO:0070328)	high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		TGGAGCCTGGTGAGGGGCAGG	0.617																																						dbGAP											0													85.0	77.0	80.0					19																	45448078		2202	4300	6502	-	-	-	SO:0001583	missense	0			U32576	CCDS12649.1	19q13.2	2013-09-30			ENSG00000267467	ENSG00000267467		"""Apolipoproteins"""	611	protein-coding gene	gene with protein product		600745				8530039	Standard	NM_001646		Approved			P55056	OTTHUMG00000180845	ENST00000592954.1:c.149T>G	19.37:g.45448078T>G	ENSP00000468236:p.Val50Gly		B3KWY6|Q53YY8	Missense_Mutation	SNP	NULL	p.V50G	ENST00000592954.1	37	c.149	CCDS12649.1	19	.	.	.	.	.	.	.	.	.	.	T	9.613	1.131912	0.21041	.	.	ENSG00000224916	ENST00000419266;ENST00000436871	T;T	0.34072	1.38;1.38	3.74	3.74	0.42951	.	0.388487	0.18847	N	0.129512	T	0.44074	0.1276	L	0.34521	1.04	0.38909	D	0.957491	D	0.71674	0.998	D	0.66351	0.943	T	0.46707	-0.9172	10	0.87932	D	0	-1.412	9.4379	0.38650	0.0:0.0:0.0:1.0	.	50	P55056	APOC4_HUMAN	G	50	ENSP00000406381:V50G;ENSP00000412935:V50G	ENSP00000406381:V50G	V	+	2	0	APOC4	50139918	0.551000	0.26497	0.358000	0.25811	0.024000	0.10985	1.758000	0.38410	1.670000	0.50864	0.347000	0.21830	GTG	APOC4	-	NULL	ENSG00000224916		0.617	APOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOC4	HGNC	protein_coding	OTTHUMT00000453255.1	320	0.31	1	T	NM_001646		45448078	45448078	+1	no_errors	ENST00000419266	ensembl	human	known	69_37n	missense	244	10.58	29	SNP	0.438	G
AQP10	89872	genome.wustl.edu	37	1	154296774	154296774	+	Missense_Mutation	SNP	T	T	G	rs200974498		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:154296774T>G	ENST00000324978.3	+	6	764	c.724T>G	c.(724-726)Tgg>Ggg	p.W242G	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000484864.1_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	242					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAATGGCTGGTGGTGGGTGCC	0.617											OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													41.0	40.0	40.0					1																	154296774		2045	4048	6093	-	-	-	SO:0001583	missense	0			AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.724T>G	1.37:g.154296774T>G	ENSP00000318355:p.Trp242Gly	1762	Q5VYD3|Q5VYD4|Q8NG70	Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_Aquaporin	p.W242G	ENST00000324978.3	37	c.724	CCDS1065.1	1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.474613	0.63737	.	.	ENSG00000143595	ENST00000324978	D	0.84944	-1.92	4.4	4.4	0.53042	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.88869	0.6554	M	0.67625	2.065	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.90344	0.4361	10	0.87932	D	0	-4.2612	12.9218	0.58237	0.0:0.0:0.0:1.0	.	242	Q96PS8	AQP10_HUMAN	G	242	ENSP00000318355:W242G	ENSP00000318355:W242G	W	+	1	0	AQP10	152563398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.592000	0.82676	2.001000	0.58596	0.454000	0.30748	TGG	AQP10	-	pfam_MIP,superfamily_Aquaporin-like,tigrfam_Aquaporin	ENSG00000143595		0.617	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP10	HGNC	protein_coding	OTTHUMT00000087661.1	25	0.00	0	T	NM_080429		154296774	154296774	+1	no_errors	ENST00000324978	ensembl	human	known	69_37n	missense	6	50.00	6	SNP	1.000	G
ARFGEF2	10564	genome.wustl.edu	37	20	47614927	47614927	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:47614927A>C	ENST00000371917.4	+	25	3317	c.3317A>C	c.(3316-3318)cAc>cCc	p.H1106P	ARFGEF2_ENST00000493140.1_3'UTR	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1106					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GCTTCCCCCCACCATCCTCGC	0.498																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	dbGAP											0													162.0	142.0	149.0					20																	47614927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3317A>C	20.37:g.47614927A>C	ENSP00000360985:p.His1106Pro		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.H1106P	ENST00000371917.4	37	c.3317	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551674	0.65311	.	.	ENSG00000124198	ENST00000371917	T	0.52057	0.68	6.06	6.06	0.98353	Armadillo-type fold (1);	0.580092	0.20471	N	0.091695	T	0.42359	0.1199	L	0.40543	1.245	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16217	-1.0410	10	0.31617	T	0.26	.	16.6127	0.84892	1.0:0.0:0.0:0.0	.	1106	Q9Y6D5	BIG2_HUMAN	P	1106	ENSP00000360985:H1106P	ENSP00000360985:H1106P	H	+	2	0	ARFGEF2	47048334	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	3.067000	0.50010	2.322000	0.78497	0.528000	0.53228	CAC	ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.498	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	155	0.64	1	A	NM_006420		47614927	47614927	+1	no_errors	ENST00000371917	ensembl	human	known	69_37n	missense	167	16.92	34	SNP	1.000	C
ARHGAP17	55114	genome.wustl.edu	37	16	24942175	24942175	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:24942175A>G	ENST00000289968.6	-	19	2514	c.2445T>C	c.(2443-2445)ccT>ccC	p.P815P	ARHGAP17_ENST00000303665.5_Silent_p.P737P|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	815	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGACACCAGGAGGTTGGGGGG	0.567																																						dbGAP											0													118.0	134.0	129.0					16																	24942175		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2445T>C	16.37:g.24942175A>G			A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	NULL	p.S183P	ENST00000289968.6	37	c.547	CCDS32409.1	16																																																																																			ARHGAP17	-	NULL	ENSG00000140750		0.567	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	115	0.00	0	A	NM_018054		24942175	24942175	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000573765	ensembl	human	putative	69_37n	missense	184	15.21	33	SNP	0.999	G
ARHGAP17	55114	genome.wustl.edu	37	16	24942415	24942415	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:24942415A>G	ENST00000289968.6	-	19	2274	c.2205T>C	c.(2203-2205)ccT>ccC	p.P735P	ARHGAP17_ENST00000303665.5_Silent_p.P657P|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	735	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TGGGGTTGGGAGGGCCCTGGC	0.627																																						dbGAP											0													134.0	154.0	147.0					16																	24942415		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2205T>C	16.37:g.24942415A>G			A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	NULL	p.S103P	ENST00000289968.6	37	c.307	CCDS32409.1	16																																																																																			ARHGAP17	-	NULL	ENSG00000140750		0.627	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP17	HGNC	protein_coding	OTTHUMT00000436548.3	127	0.00	0	A	NM_018054		24942415	24942415	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000573765	ensembl	human	putative	69_37n	missense	196	10.91	24	SNP	0.000	G
ARHGAP25	9938	genome.wustl.edu	37	2	69043315	69043315	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:69043315T>G	ENST00000295381.3	+	7	1223				ARHGAP25_ENST00000544262.1_Missense_Mutation_p.S253R|ARHGAP25_ENST00000479844.1_5'Flank|ARHGAP25_ENST00000467265.1_Intron|ARHGAP25_ENST00000497079.1_Intron|ARHGAP25_ENST00000409202.3_Intron|ARHGAP25_ENST00000409030.3_Intron|ARHGAP25_ENST00000409220.1_Intron	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ACTGCCAAAGTGTTGTTTCTG	0.378																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.805-106T>G	2.37:g.69043315T>G			A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.S253R	ENST00000295381.3	37	c.759		2	.	.	.	.	.	.	.	.	.	.	T	5.387	0.256593	0.10185	.	.	ENSG00000163219	ENST00000544262	T	0.14893	2.47	4.46	2.13	0.27403	.	.	.	.	.	T	0.07728	0.0194	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42481	-0.9449	8	0.11182	T	0.66	.	5.8912	0.18915	0.0:0.2054:0.0:0.7946	.	253	B7Z8K7	.	R	253	ENSP00000439917:S253R	ENSP00000417283:S253R	S	+	3	2	ARHGAP25	68896819	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.397000	0.20883	0.495000	0.27882	0.477000	0.44152	AGT	ARHGAP25	-	smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000163219		0.378	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	ARHGAP25	HGNC	protein_coding		45	0.00	0	T	NM_014882		69043315	69043315	+1	no_errors	ENST00000463483	ensembl	human	known	69_37n	missense	38	22.45	11	SNP	0.001	G
ARHGAP33	115703	genome.wustl.edu	37	19	36275162	36275162	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:36275162A>C	ENST00000007510.4	+	16	1654	c.1510A>C	c.(1510-1512)Acc>Ccc	p.T504P	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.T504P|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.T368P			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	504	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GTTTCTGCTCACCCATGTGGA	0.662																																						dbGAP											0													313.0	251.0	272.0					19																	36275162		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.1510A>C	19.37:g.36275162A>C	ENSP00000007510:p.Thr504Pro		O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.T504P	ENST00000007510.4	37	c.1510		19	.	.	.	.	.	.	.	.	.	.	a	17.44	3.390343	0.62066	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000378944	T;T;T	0.12039	2.72;2.72;2.72	5.12	5.12	0.69794	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.156511	0.37053	N	0.002279	T	0.22085	0.0532	M	0.82132	2.575	0.37819	D	0.928325	B;P;P	0.41265	0.261;0.566;0.744	B;B;B	0.42692	0.157;0.395;0.26	T	0.09509	-1.0671	10	0.52906	T	0.07	.	9.3474	0.38118	0.84:0.0:0.0:0.16	.	504;368;504	O14559;O14559-10;O14559-11	RHG33_HUMAN;.;.	P	504;504;368	ENSP00000007510:T504P;ENSP00000320038:T504P;ENSP00000368227:T368P	ENSP00000007510:T504P	T	+	1	0	ARHGAP33	40967002	0.999000	0.42202	0.998000	0.56505	0.971000	0.66376	7.071000	0.76770	1.928000	0.55862	0.375000	0.23000	ACC	ARHGAP33	-	superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000004777		0.662	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		268	0.36	1	A	NM_052948		36275162	36275162	+1	no_errors	ENST00000007510	ensembl	human	known	69_37n	missense	177	17.13	37	SNP	1.000	C
ARHGEF10L	55160	genome.wustl.edu	37	1	18021723	18021723	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:18021723T>G	ENST00000361221.3	+	28	3414	c.3255T>G	c.(3253-3255)ggT>ggG	p.G1085G	ARHGEF10L_ENST00000375415.1_Silent_p.G1046G|ARHGEF10L_ENST00000452522.1_Silent_p.G1046G|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.G788G|ARHGEF10L_ENST00000375408.3_Silent_p.G858G	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1085						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGACCAGGGTGTCATCGTCC	0.632																																						dbGAP											0													82.0	73.0	76.0					1																	18021723		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.3255T>G	1.37:g.18021723T>G			B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.G1085	ENST00000361221.3	37	c.3255	CCDS182.1	1																																																																																			ARHGEF10L	-	superfamily_WD40_repeat_dom	ENSG00000074964		0.632	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	55	0.00	0	T	NM_018125		18021723	18021723	+1	no_errors	ENST00000361221	ensembl	human	known	69_37n	silent	41	16.33	8	SNP	0.053	G
ARHGEF12	23365	genome.wustl.edu	37	11	120349051	120349051	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:120349051A>C	ENST00000397843.2	+	37	3885	c.3719A>C	c.(3718-3720)cAc>cCc	p.H1240P	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.H1221P|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.H1137P	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1240					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCAGATTCACACCTGCCTGTC	0.393			T	MLL	AML																																	dbGAP		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													79.0	74.0	76.0					11																	120349051		1927	4134	6061	-	-	-	SO:0001583	missense	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3719A>C	11.37:g.120349051A>C	ENSP00000380942:p.His1240Pro		O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.H1221P	ENST00000397843.2	37	c.3662	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	A	12.34	1.907927	0.33721	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.65364	-0.05;-0.15;-0.04	5.26	5.26	0.73747	.	0.000000	0.51477	D	0.000086	T	0.43919	0.1269	N	0.17082	0.46	0.27082	N	0.963067	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.30031	-0.9992	10	0.35671	T	0.21	-8.7448	9.9318	0.41528	0.8152:0.1848:0.0:0.0	.	1221;1240	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	P	1240;1221;1137	ENSP00000380942:H1240P;ENSP00000349056:H1221P;ENSP00000432984:H1137P	ENSP00000349056:H1221P	H	+	2	0	ARHGEF12	119854261	0.002000	0.14202	0.995000	0.50966	0.616000	0.37450	1.618000	0.36954	2.108000	0.64289	0.533000	0.62120	CAC	ARHGEF12	-	NULL	ENSG00000196914		0.393	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	42	0.00	0	A	NM_015313		120349051	120349051	+1	no_errors	ENST00000356641	ensembl	human	known	69_37n	missense	38	25.49	13	SNP	0.985	C
ARHGEF15	22899	genome.wustl.edu	37	17	8222851	8222851	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:8222851A>C	ENST00000361926.3	+	15	2414	c.2304A>C	c.(2302-2304)gcA>gcC	p.A768A	ARHGEF15_ENST00000421050.1_Silent_p.A768A|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	768					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGTCGTCTGCACCTGCCAAGA	0.493																																						dbGAP											0													112.0	116.0	115.0					17																	8222851		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2304A>C	17.37:g.8222851A>C			A8K6G1|Q8N449|Q9H8B4	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.A768	ENST00000361926.3	37	c.2304	CCDS11139.1	17																																																																																			ARHGEF15	-	NULL	ENSG00000198844		0.493	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	161	0.61	1	A	NM_173728		8222851	8222851	+1	no_errors	ENST00000361926	ensembl	human	known	69_37n	silent	88	24.14	28	SNP	0.005	C
ARHGEF15	22899	genome.wustl.edu	37	17	8224238	8224238	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:8224238A>C	ENST00000361926.3	+	16	2563	c.2453A>C	c.(2452-2454)cAc>cCc	p.H818P	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.H818P|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	818					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AGGAGGAGGCACCTTCGCCAG	0.617																																						dbGAP											0													88.0	86.0	87.0					17																	8224238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.2453A>C	17.37:g.8224238A>C	ENSP00000355026:p.His818Pro		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.H818P	ENST00000361926.3	37	c.2453	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	a	19.18	3.778614	0.70107	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.70631	-0.5;-0.5	4.86	4.86	0.63082	.	0.150609	0.56097	D	0.000027	T	0.54143	0.1840	N	0.19112	0.55	0.37212	D	0.904858	P;P	0.44578	0.736;0.838	B;B	0.38562	0.205;0.276	T	0.66744	-0.5846	10	0.87932	D	0	-16.6934	11.0171	0.47696	1.0:0.0:0.0:0.0	.	818;818	D3DTR7;O94989	.;ARHGF_HUMAN	P	818;608;818	ENSP00000355026:H818P;ENSP00000412505:H818P	ENSP00000355026:H818P	H	+	2	0	ARHGEF15	8164963	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.761000	0.62243	2.174000	0.68829	0.460000	0.39030	CAC	ARHGEF15	-	NULL	ENSG00000198844		0.617	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	103	0.96	1	A	NM_173728		8224238	8224238	+1	no_errors	ENST00000361926	ensembl	human	known	69_37n	missense	61	19.23	15	SNP	1.000	C
ARHGEF17	9828	genome.wustl.edu	37	11	73021837	73021837	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:73021837T>G	ENST00000263674.3	+	1	2504	c.2154T>G	c.(2152-2154)ggT>ggG	p.G718G	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	718					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGGTTCTGGTGGGAGCGAAT	0.652																																						dbGAP											0													38.0	41.0	40.0					11																	73021837		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2154T>G	11.37:g.73021837T>G			B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain	p.G718	ENST00000263674.3	37	c.2154	CCDS8221.1	11																																																																																			ARHGEF17	-	NULL	ENSG00000110237		0.652	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF17	HGNC	protein_coding	OTTHUMT00000397365.1	38	0.00	0	T	NM_014786		73021837	73021837	+1	no_errors	ENST00000263674	ensembl	human	known	69_37n	silent	17	22.73	5	SNP	1.000	G
ARHGEF7	8874	genome.wustl.edu	37	13	111919984	111919984	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:111919984A>C	ENST00000375741.2	+	10	1353	c.1103A>C	c.(1102-1104)cAc>cCc	p.H368P	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.H275P|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.H190P|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.H190P|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.H112P|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.H265P|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.H190P|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.H190P|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.H318P|ARHGEF7_ENST00000544132.1_Silent_p.S70S|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.H347P	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	368	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TGTGCCAATCACCCTTCTGCA	0.522																																						dbGAP											0													187.0	134.0	152.0					13																	111919984		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1103A>C	13.37:g.111919984A>C	ENSP00000364893:p.His368Pro		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,prints_SH3_domain,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.H368P	ENST00000375741.2	37	c.1103	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	A	22.2	4.253897	0.80135	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18;2.18	4.29	4.29	0.51040	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.54838	0.1883	M	0.92122	3.275	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;1.0;0.998;0.999;0.999;1.0	D;D;D;D;D;D	0.97110	0.999;1.0;0.999;0.999;1.0;1.0	T	0.67352	-0.5692	10	0.87932	D	0	.	13.4691	0.61271	1.0:0.0:0.0:0.0	.	112;265;112;318;368;347	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	P	347;368;318;275;345;190;190;190;190;265;190;112	ENSP00000325994:H347P;ENSP00000364893:H368P;ENSP00000364891:H318P;ENSP00000359657:H275P;ENSP00000418067:H190P;ENSP00000218789:H190P;ENSP00000364888:H190P;ENSP00000397068:H190P;ENSP00000364889:H265P;ENSP00000364875:H190P;ENSP00000417596:H112P	ENSP00000218789:H190P	H	+	2	0	ARHGEF7	110717985	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.607000	0.90891	1.592000	0.50018	0.460000	0.39030	CAC	ARHGEF7	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000102606		0.522	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		183	0.54	1	A	NM_001113511		111919984	111919984	+1	no_errors	ENST00000375741	ensembl	human	known	69_37n	missense	152	13.56	24	SNP	1.000	C
ARID1A	8289	genome.wustl.edu	37	1	27057898	27057898	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:27057898T>C	ENST00000324856.7	+	3	1977	c.1606T>C	c.(1606-1608)Tcc>Ccc	p.S536P	ARID1A_ENST00000374152.2_Missense_Mutation_p.S153P|ARID1A_ENST00000457599.2_Missense_Mutation_p.S536P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	536					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)		TCCATACCCCTCCCAGCAGTC	0.637			"""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													237.0	235.0	235.0					1																	27057898		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.1606T>C	1.37:g.27057898T>C	ENSP00000320485:p.Ser536Pro		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.S536P	ENST00000324856.7	37	c.1606	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792591	0.50102	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02763	4.4;4.17;4.2	5.44	3.08	0.35506	.	0.467996	0.23032	N	0.052729	T	0.01592	0.0051	N	0.08118	0	0.80722	D	1	B;B;B	0.29766	0.167;0.256;0.167	B;B;B	0.31547	0.062;0.132;0.062	T	0.58978	-0.7540	10	0.35671	T	0.21	-8.1394	3.5772	0.07938	0.2014:0.1337:0.0:0.6649	.	536;536;190	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	P	536;536;153	ENSP00000320485:S536P;ENSP00000387636:S536P;ENSP00000363267:S153P	ENSP00000320485:S536P	S	+	1	0	ARID1A	26930485	0.004000	0.15560	1.000000	0.80357	0.965000	0.64279	0.737000	0.26144	1.062000	0.40625	0.533000	0.62120	TCC	ARID1A	-	NULL	ENSG00000117713		0.637	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	344	0.86	3	T	NM_139135		27057898	27057898	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	missense	331	11.70	44	SNP	0.992	C
ARIH2	10425	genome.wustl.edu	37	3	49012302	49012302	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:49012302T>G	ENST00000356401.4	+	10	1278		c.e10+2		ARIH2_ENST00000449376.1_Splice_Site|ARIH2_ENST00000490095.1_Splice_Site	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2						developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		AATCACATGGTGAGCAGAAGC	0.498																																						dbGAP											0													241.0	200.0	214.0					3																	49012302		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.939+2T>G	3.37:g.49012302T>G			Q9HBZ6|Q9UEM9	Splice_Site	SNP	-	e8+2	ENST00000356401.4	37	c.939+2	CCDS2780.1	3	.	.	.	.	.	.	.	.	.	.	T	23.5	4.426868	0.83667	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3275	0.82990	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARIH2	48987306	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.471000	0.80985	2.266000	0.75297	0.529000	0.55759	.	ARIH2	-	-	ENSG00000177479		0.498	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARIH2	HGNC	protein_coding	OTTHUMT00000257525.1	307	0.00	0	T	NM_006321	Intron	49012302	49012302	+1	no_errors	ENST00000356401	ensembl	human	known	69_37n	splice_site	302	10.36	35	SNP	1.000	G
ARL13B	200894	genome.wustl.edu	37	3	93768359	93768359	+	Silent	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:93768359T>C	ENST00000394222.3	+	8	1409	c.1134T>C	c.(1132-1134)ccT>ccC	p.P378P	ARL13B_ENST00000303097.7_Silent_p.P271P|ARL13B_ENST00000539730.1_Silent_p.P99P|ARL13B_ENST00000471138.1_Silent_p.P378P|ARL13B_ENST00000535334.1_Silent_p.P275P|DHFRL1_ENST00000481631.1_Intron	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	378	Pro-rich.				cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						CCCCACCCCCTCCTCCTGGTG	0.363																																						dbGAP											0													67.0	71.0	70.0					3																	93768359		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.1134T>C	3.37:g.93768359T>C			D3DN29|G3V1S8|Q504W8|Q8TCL5	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.P378	ENST00000394222.3	37	c.1134	CCDS2925.1	3																																																																																			ARL13B	-	NULL	ENSG00000169379		0.363	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ARL13B	HGNC	protein_coding	OTTHUMT00000352904.1	148	0.00	0	T	NM_182896		93768359	93768359	+1	no_errors	ENST00000394222	ensembl	human	known	69_37n	silent	110	20.86	29	SNP	0.001	C
ARMC10	83787	genome.wustl.edu	37	7	102727368	102727368	+	Intron	DEL	G	G	-			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:102727368delG	ENST00000323716.3	+	4	920				ARMC10_ENST00000428183.2_Intron|ARMC10_ENST00000441711.2_Intron|ARMC10_ENST00000541300.1_Intron|ARMC10_ENST00000454559.1_Intron|ARMC10_ENST00000425331.1_Intron	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10						regulation of growth (GO:0040008)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						GGAGGGACCTGAACTAGCCAA	0.373																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY150853	CCDS5728.1, CCDS55145.1, CCDS55146.1, CCDS55147.1, CCDS55148.1, CCDS55149.1	7q22.1	2013-02-14			ENSG00000170632	ENSG00000170632		"""Armadillo repeat containing"""	21706	protein-coding gene	gene with protein product	"""specific Splicing Variant involved in Hepatocarcinogenesis"""	611864				12839973	Standard	NM_031905		Approved	MGC3195, SVH	uc003vaw.2	Q8N2F6	OTTHUMG00000157201	ENST00000323716.3:c.528+157G>-	7.37:g.102727368delG			A8K703|B4DWJ8|F5GX65|Q75K91|Q75MG6|Q75ML8|Q8IZC1|Q8IZC2|Q8IZC3|Q9BTM6	Frame_Shift_Del	DEL	pfam_ARM-rpt_dom,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold	p.*194fs	ENST00000323716.3	37	c.581	CCDS5728.1	7																																																																																			ARMC10	-	NULL	ENSG00000170632		0.373	ARMC10-001	KNOWN	basic|CCDS	protein_coding	ARMC10	HGNC	protein_coding	OTTHUMT00000347882.1	14	0.00	0	G	NM_031905		102727368	102727368	+1	no_errors	ENST00000323735	ensembl	human	known	69_37n	frame_shift_del	3	33.33	2	DEL	0.000	-
ARPC2	10109	genome.wustl.edu	37	2	219114442	219114442	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:219114442T>G	ENST00000295685.10	+	9	1038				ARPC2_ENST00000315717.5_Intron|ARPC2_ENST00000477992.1_Intron	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa						Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		AATCCCAGGGTGTATGTTCCC	0.493																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF006085	CCDS2410.1	2q36.1	2011-07-06	2002-08-29		ENSG00000163466	ENSG00000163466		"""Actin related protein 2/3 complex subunits"""	705	protein-coding gene	gene with protein product		604224	"""actin related protein 2/3 complex, subunit 2 (34 kD)"""			9359840, 9230079	Standard	NM_005731		Approved	p34-Arc, ARC34	uc002vhd.4	O15144	OTTHUMG00000133618	ENST00000295685.10:c.778-102T>G	2.37:g.219114442T>G			Q92801|Q9P1D4	RNA	SNP	-	NULL	ENST00000295685.10	37	NULL	CCDS2410.1	2																																																																																			ARPC2	-	-	ENSG00000163466		0.493	ARPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC2	HGNC	protein_coding	OTTHUMT00000256777.2	59	0.00	0	T	NM_005731		219114442	219114442	+1	no_errors	ENST00000487321	ensembl	human	putative	69_37n	rna	41	26.79	15	SNP	0.000	G
ASGR1	432	genome.wustl.edu	37	17	7077497	7077497	+	Missense_Mutation	SNP	T	T	C	rs201237165		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:7077497T>C	ENST00000269299.3	-	7	953	c.554A>G	c.(553-555)gAg>gGg	p.E185G	ASGR1_ENST00000574388.1_Missense_Mutation_p.E146G|ASGR1_ENST00000572879.1_Missense_Mutation_p.E45G|ASGR1_ENST00000380920.4_Missense_Mutation_p.E84G	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	185	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GTGCGCGTCCTCCAGCCGGCA	0.677																																						dbGAP											0													73.0	74.0	74.0					17																	7077497		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.554A>G	17.37:g.7077497T>C	ENSP00000269299:p.Glu185Gly		I3L1X1	Missense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E185G	ENST00000269299.3	37	c.554	CCDS11089.1	17	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745009	0.49151	.	.	ENSG00000141505	ENST00000269299;ENST00000380920	T	0.18016	2.24	4.69	4.69	0.59074	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.53938	D	0.000043	T	0.37571	0.1008	M	0.85299	2.745	0.30173	N	0.801129	P	0.51933	0.949	P	0.58721	0.844	T	0.46925	-0.9156	10	0.72032	D	0.01	.	7.8703	0.29563	0.1843:0.0:0.0:0.8157	.	185	P07306	ASGR1_HUMAN	G	185;146	ENSP00000269299:E185G	ENSP00000269299:E185G	E	-	2	0	ASGR1	7018221	0.948000	0.32251	0.988000	0.46212	0.018000	0.09664	2.270000	0.43355	2.102000	0.63906	0.172000	0.16884	GAG	ASGR1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000141505		0.677	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASGR1	HGNC	protein_coding	OTTHUMT00000220004.3	76	0.00	0	T	NM_001671		7077497	7077497	-1	no_errors	ENST00000269299	ensembl	human	known	69_37n	missense	54	28.95	22	SNP	0.838	C
ASIC1	41	genome.wustl.edu	37	12	50472221	50472221	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:50472221A>C	ENST00000447966.2	+	6	1084	c.855A>C	c.(853-855)ccA>ccC	p.P285P	ASIC1_ENST00000552438.1_Silent_p.P319P|ASIC1_ENST00000228468.4_Silent_p.P285P	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	285					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	ACCTGCCCCCACCCTGGGGCA	0.587																																						dbGAP											0													97.0	105.0	102.0					12																	50472221		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.855A>C	12.37:g.50472221A>C			A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.H153P	ENST00000447966.2	37	c.458	CCDS44876.1	12	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205270	0.22205	.	.	ENSG00000110881	ENST00000453327	.	.	.	4.07	0.0755	0.14399	.	.	.	.	.	T	0.39627	0.1085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21655	-1.0239	4	.	.	.	-16.108	0.6465	0.00819	0.3636:0.114:0.2684:0.2539	.	.	.	.	P	153	.	.	H	+	2	0	ACCN2	48758488	0.001000	0.12720	0.997000	0.53966	0.990000	0.78478	-1.578000	0.02125	-0.093000	0.12396	-0.355000	0.07637	CAC	ASIC1	-	pfam_Na+channel_ASC,tigrfam_EnaC	ENSG00000110881		0.587	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC1	HGNC	protein_coding	OTTHUMT00000406004.2	128	0.76	1	A	NM_020039		50472221	50472221	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000453327	ensembl	human	novel	69_37n	missense	122	16.78	25	SNP	0.968	C
ASMTL	8623	genome.wustl.edu	37	X	1536955	1536955	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:1536955A>C	ENST00000381317.3	-	11	1465	c.1433T>G	c.(1432-1434)gTg>gGg	p.V478G	ASMTL_ENST00000416733.2_Missense_Mutation_p.V402G|ASMTL_ENST00000534940.1_Missense_Mutation_p.V420G|ASMTL_ENST00000381333.4_Missense_Mutation_p.V462G	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	478	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				AAACACAGTCACCTGCATACG	0.627																																						dbGAP											0													138.0	163.0	154.0					X																	1536955		2122	4208	6330	-	-	-	SO:0001583	missense	0			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1433T>G	X.37:g.1536955A>C	ENSP00000370718:p.Val478Gly		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.V478G	ENST00000381317.3	37	c.1433	CCDS43917.1	X	.	.	.	.	.	.	.	.	.	.	a	14.07	2.425366	0.43020	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	1.43	1.43	0.22495	O-methyltransferase, family 2 (1);	0.080869	0.48767	U	0.000172	T	0.32734	0.0839	L	0.43923	1.385	0.51767	D	0.999934	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.73708	0.981;0.944;0.967	T	0.15636	-1.0430	10	0.11794	T	0.64	.	8.1988	0.31413	1.0:0.0:0.0:0.0	.	402;462;478	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	G	402;420;462;478	ENSP00000410578:V402G;ENSP00000446410:V420G;ENSP00000370734:V462G;ENSP00000370718:V478G	ENSP00000370718:V478G	V	-	2	0	ASMTL	1496955	0.997000	0.39634	0.292000	0.24919	0.000000	0.00434	5.526000	0.67116	0.431000	0.26258	0.000000	0.15137	GTG	ASMTL	-	pfam_O_MeTrfase_2	ENSG00000169093		0.627	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	261	0.38	1	A	NM_004192		1536955	1536955	-1	no_errors	ENST00000381317	ensembl	human	known	69_37n	missense	182	11.59	24	SNP	0.993	C
ASPH	444	genome.wustl.edu	37	8	62566125	62566125	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:62566125A>C	ENST00000379454.4	-	4	603		c.e4+1		ASPH_ENST00000541428.1_Splice_Site|ASPH_ENST00000517903.1_Splice_Site|ASPH_ENST00000517847.2_Splice_Site|ASPH_ENST00000445642.3_Splice_Site|ASPH_ENST00000522835.1_Splice_Site|ASPH_ENST00000518068.1_Splice_Site|ASPH_ENST00000356457.5_Splice_Site	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GGACAAGCTTACCTGCCTCCA	0.527																																						dbGAP											0													106.0	86.0	93.0					8																	62566125		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.415+1T>G	8.37:g.62566125A>C			A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Splice_Site	SNP	-	e4+2	ENST00000379454.4	37	c.415+2	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	A	13.18	2.160086	0.38119	.	.	ENSG00000198363	ENST00000389213;ENST00000541428;ENST00000379454;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835;ENST00000518306	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1376	0.48383	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ASPH	62728679	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	4.083000	0.57643	2.137000	0.66172	0.455000	0.32223	.	ASPH	-	-	ENSG00000198363		0.527	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	165	0.60	1	A	NM_004318	Intron	62566125	62566125	-1	no_errors	ENST00000379454	ensembl	human	known	69_37n	splice_site	134	11.84	18	SNP	1.000	C
ASPHD2	57168	genome.wustl.edu	37	22	26829825	26829825	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:26829825C>A	ENST00000215906.5	+	2	682	c.244C>A	c.(244-246)Cag>Aag	p.Q82K		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	82					peptidyl-amino acid modification (GO:0018193)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GGGCAGGGAGCAGCCCCGGCC	0.642																																						dbGAP											0													90.0	75.0	80.0					22																	26829825		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097157	CCDS13834.2	22q12.1	2006-02-02			ENSG00000128203	ENSG00000128203			30437	protein-coding gene	gene with protein product							Standard	NM_020437		Approved	FLJ39838	uc003acg.2	Q6ICH7	OTTHUMG00000150884	ENST00000215906.5:c.244C>A	22.37:g.26829825C>A	ENSP00000215906:p.Gln82Lys		B2RCH3|Q7L0W3|Q9NSN3	Missense_Mutation	SNP	pfam_Asp_Arg_b-Hydrxlase	p.Q82K	ENST00000215906.5	37	c.244	CCDS13834.2	22	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374255	0.61735	.	.	ENSG00000128203	ENST00000215906	T	0.43688	0.94	4.57	4.57	0.56435	.	0.201303	0.43747	D	0.000524	T	0.29321	0.0730	N	0.19112	0.55	0.54753	D	0.999984	P	0.38535	0.635	B	0.33960	0.173	T	0.24297	-1.0164	10	0.56958	D	0.05	-20.5701	16.5399	0.84382	0.0:1.0:0.0:0.0	.	82	Q6ICH7	ASPH2_HUMAN	K	82	ENSP00000215906:Q82K	ENSP00000215906:Q82K	Q	+	1	0	ASPHD2	25159825	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.734000	0.74801	2.368000	0.80403	0.563000	0.77884	CAG	ASPHD2	-	NULL	ENSG00000128203		0.642	ASPHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPHD2	HGNC	protein_coding	OTTHUMT00000320422.1	53	0.00	0	C	NM_020437		26829825	26829825	+1	no_errors	ENST00000215906	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	A
ASTN1	460	genome.wustl.edu	37	1	176992518	176992518	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:176992518G>A	ENST00000367654.3	-	7	1671	c.1460C>T	c.(1459-1461)gCg>gTg	p.A487V	ASTN1_ENST00000424564.2_Intron|ASTN1_ENST00000367657.3_Intron|ASTN1_ENST00000361833.2_Intron|ASTN1_ENST00000281881.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	487	EGF-like 1.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						ACAGTTACCCGCTGCCCGGTG	0.612																																						dbGAP											0													19.0	18.0	18.0					1																	176992518		2198	4291	6489	-	-	-	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1460C>T	1.37:g.176992518G>A	ENSP00000356626:p.Ala487Val		A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.A487V	ENST00000367654.3	37	c.1460		1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.767024	0.49574	.	.	ENSG00000152092	ENST00000367654	T	0.10382	2.88	5.91	-0.555	0.11807	.	0.733767	0.13501	N	0.383216	T	0.11067	0.0270	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35649	-0.9780	7	0.49607	T	0.09	-13.9968	0.9848	0.01443	0.2221:0.1284:0.3851:0.2644	.	.	.	.	V	487	ENSP00000356626:A487V	ENSP00000356626:A487V	A	-	2	0	ASTN1	175259141	0.868000	0.29978	0.984000	0.44739	0.996000	0.88848	-0.328000	0.07945	-0.345000	0.08325	0.655000	0.94253	GCG	ASTN1	-	smart_EGF-like	ENSG00000152092		0.612	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		49	0.00	0	G	NM_004319		176992518	176992518	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	missense	65	16.67	13	SNP	0.987	A
ATN1	1822	genome.wustl.edu	37	12	7045659	7045659	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:7045659A>C	ENST00000356654.4	+	5	1466	c.1229A>C	c.(1228-1230)cAc>cCc	p.H410P	ATN1_ENST00000396684.2_Missense_Mutation_p.H410P	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	410					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						AGCTACCCCCACTCTTTCCCT	0.597																																						dbGAP											0													81.0	67.0	72.0					12																	7045659		2203	4300	6503	-	-	-	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.1229A>C	12.37:g.7045659A>C	ENSP00000349076:p.His410Pro		Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	pfam_Atrophin-like,prints_Atrophin-1	p.H410P	ENST00000356654.4	37	c.1229	CCDS31734.1	12	.	.	.	.	.	.	.	.	.	.	a	4.593	0.110162	0.08780	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.55052	0.54;0.54;0.54	3.73	2.45	0.29901	.	0.000000	0.35677	U	0.003054	T	0.55242	0.1908	L	0.40543	1.245	0.46823	D	0.999219	P;D	0.71674	0.636;0.998	B;D	0.63113	0.403;0.911	T	0.49532	-0.8930	10	0.26408	T	0.33	.	9.7789	0.40637	0.8267:0.1733:0.0:0.0	.	410;410	Q86V38;P54259	.;ATN1_HUMAN	P	410	ENSP00000349076:H410P;ENSP00000379915:H410P;ENSP00000441744:H410P	ENSP00000349076:H410P	H	+	2	0	ATN1	6915920	0.937000	0.31787	0.966000	0.40874	0.096000	0.18686	2.680000	0.46918	1.468000	0.48064	0.478000	0.44815	CAC	ATN1	-	pfam_Atrophin-like	ENSG00000111676		0.597	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATN1	HGNC	protein_coding	OTTHUMT00000401948.2	80	0.00	0	A	NM_001940		7045659	7045659	+1	no_errors	ENST00000356654	ensembl	human	known	69_37n	missense	164	18.81	38	SNP	0.988	C
ATF7IP	55729	genome.wustl.edu	37	12	14577417	14577417	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:14577417A>C	ENST00000540793.1	+	1	723	c.568A>C	c.(568-570)Acc>Ccc	p.T190P	ATF7IP_ENST00000544627.1_Missense_Mutation_p.T198P|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.T190P|ATF7IP_ENST00000543189.1_Missense_Mutation_p.T190P|ATF7IP_ENST00000261168.4_Missense_Mutation_p.T190P			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	190					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TGGTGATGCCACCTCTGGTGA	0.567																																						dbGAP											0													159.0	119.0	133.0					12																	14577417		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.568A>C	12.37:g.14577417A>C	ENSP00000444589:p.Thr190Pro		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.T190P	ENST00000540793.1	37	c.568	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354228	0.41700	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.24350	2.15;2.17;2.16;2.14;1.86;2.15	4.88	-7.12	0.01537	.	2.816380	0.01262	N	0.009206	T	0.09862	0.0242	N	0.08118	0	0.09310	N	1	B;B;P;P;B	0.34757	0.062;0.062;0.467;0.467;0.018	B;B;B;B;B	0.25884	0.059;0.059;0.064;0.064;0.043	T	0.16808	-1.0390	10	0.39692	T	0.17	3.1233	5.6154	0.17428	0.4694:0.0:0.3229:0.2077	.	198;190;190;190;190	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	P	190;190;190;198;190;190	ENSP00000261168:T190P;ENSP00000443179:T190P;ENSP00000445955:T190P;ENSP00000440440:T198P;ENSP00000379575:T190P;ENSP00000444589:T190P	ENSP00000261168:T190P	T	+	1	0	ATF7IP	14468684	0.000000	0.05858	0.000000	0.03702	0.656000	0.38851	-0.186000	0.09670	-1.019000	0.03358	-0.993000	0.02533	ACC	ATF7IP	-	NULL	ENSG00000171681		0.567	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	158	0.63	1	A	NM_018179		14577417	14577417	+1	no_errors	ENST00000261168	ensembl	human	known	69_37n	missense	108	17.56	23	SNP	0.000	C
ATP1A1	476	genome.wustl.edu	37	1	116947044	116947044	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:116947044T>G	ENST00000295598.5	+	23	3302	c.3050T>G	c.(3049-3051)gTg>gGg	p.V1017G	ATP1A1_ENST00000369496.4_Missense_Mutation_p.V986G|ATP1A1OS_ENST00000369491.1_RNA|ATP1A1_ENST00000537345.1_Missense_Mutation_p.V1017G|ATP1A1OS_ENST00000369492.4_RNA	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	1017					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	ACAGGCTGGGTGGAGAAGGAA	0.557																																						dbGAP											0													104.0	93.0	97.0					1																	116947044		2203	4300	6503	-	-	-	SO:0001583	missense	0			D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.3050T>G	1.37:g.116947044T>G	ENSP00000295598:p.Val1017Gly		B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.V1017G	ENST00000295598.5	37	c.3050	CCDS887.1	1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.439568	0.83885	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000369496	D;D;D	0.95342	-3.68;-3.68;-3.67	5.61	5.61	0.85477	ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.95943	0.8679	M	0.85542	2.76	0.80722	D	1	D;D	0.56968	0.978;0.963	P;P	0.54499	0.754;0.573	D	0.96395	0.9292	10	0.72032	D	0.01	.	15.4855	0.75564	0.0:0.0:0.0:1.0	.	1017;1017	F5H3A1;P05023	.;AT1A1_HUMAN	G	1017;1017;986	ENSP00000295598:V1017G;ENSP00000445306:V1017G;ENSP00000358508:V986G	ENSP00000295598:V1017G	V	+	2	0	ATP1A1	116748567	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	8.033000	0.88852	2.139000	0.66308	0.533000	0.62120	GTG	ATP1A1	-	tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000163399		0.557	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP1A1	HGNC	protein_coding	OTTHUMT00000033481.5	115	0.00	0	T	NM_001160233		116947044	116947044	+1	no_errors	ENST00000295598	ensembl	human	known	69_37n	missense	116	17.61	25	SNP	1.000	G
ATP2B2	491	genome.wustl.edu	37	3	10382206	10382206	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:10382206T>G	ENST00000352432.4	-	19	3169	c.3100A>C	c.(3100-3102)Acc>Ccc	p.T1034P	ATP2B2_ENST00000360273.2_Missense_Mutation_p.T1034P|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T989P|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T1020P|ATP2B2_ENST00000397077.1_Missense_Mutation_p.T989P			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1034					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGCACGATGGTGCAGAAGATG	0.627																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0													148.0	126.0	133.0					3																	10382206		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3100A>C	3.37:g.10382206T>G	ENSP00000324172:p.Thr1034Pro		O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.T1034P	ENST00000352432.4	37	c.3100	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	T	17.18	3.324807	0.60634	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8;-3.8	4.05	2.89	0.33648	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.175134	0.50627	D	0.000112	D	0.96150	0.8745	M	0.84683	2.71	0.53688	D	0.999977	P;P;P	0.50617	0.937;0.502;0.908	P;B;P	0.53062	0.448;0.435;0.717	D	0.93749	0.7057	10	0.33940	T	0.23	-21.0553	9.169	0.37069	0.0:0.088:0.0:0.912	.	969;1001;1034	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	P	1034;989;989;1034;1020;969;223;890;1034	ENSP00000324172:T1034P;ENSP00000373311:T989P;ENSP00000380267:T989P;ENSP00000353414:T1034P;ENSP00000344677:T1020P;ENSP00000414854:T890P	ENSP00000342954:T1034P	T	-	1	0	ATP2B2	10357206	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.560000	0.36331	0.455000	0.26910	0.383000	0.25322	ACC	ATP2B2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000157087		0.627	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	113	0.87	1	T	NM_001683		10382206	10382206	-1	no_errors	ENST00000352432	ensembl	human	known	69_37n	missense	77	20.62	20	SNP	1.000	G
ATP8B2	57198	genome.wustl.edu	37	1	154309891	154309891	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:154309891T>G	ENST00000368489.3	+	12	1004	c.1004T>G	c.(1003-1005)gTg>gGg	p.V335G	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.V302G|RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000341822.2_Missense_Mutation_p.V321G	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	321					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGCACGAGGTGGGGATGCGT	0.557																																						dbGAP											0													324.0	267.0	286.0					1																	154309891		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1004T>G	1.37:g.154309891T>G	ENSP00000357475:p.Val335Gly		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.V335G	ENST00000368489.3	37	c.1004	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	T	13.96	2.393648	0.42410	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;T;T	0.88664	-2.41;-0.91;-0.91	5.17	5.17	0.71159	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.64402	D	0.000001	D	0.89368	0.6695	L	0.57536	1.79	0.58432	D	0.999999	D;P;P	0.57257	0.979;0.534;0.529	D;B;B	0.65140	0.932;0.373;0.283	D	0.89697	0.3902	10	0.49607	T	0.09	.	8.5999	0.33738	0.0:0.0855:0.0:0.9145	.	321;335;302	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	G	302;335;321	ENSP00000357472:V302G;ENSP00000357475:V335G;ENSP00000340448:V321G	ENSP00000340448:V321G	V	+	2	0	ATP8B2	152576515	1.000000	0.71417	0.982000	0.44146	0.818000	0.46254	3.935000	0.56560	2.181000	0.69327	0.459000	0.35465	GTG	ATP8B2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000143515		0.557	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	205	0.97	2	T	NM_020452		154309891	154309891	+1	no_errors	ENST00000368489	ensembl	human	known	69_37n	missense	378	12.27	53	SNP	0.986	G
ATP8B2	57198	genome.wustl.edu	37	1	154317550	154317550	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:154317550T>G	ENST00000368489.3	+	22	2489	c.2489T>G	c.(2488-2490)gTg>gGg	p.V830G		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	816					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGGCACAGGTGGTAGAACTG	0.557											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													155.0	153.0	153.0					1																	154317550		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.2489T>G	1.37:g.154317550T>G	ENSP00000357475:p.Val830Gly	1762	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.V830G	ENST00000368489.3	37	c.2489	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635738	0.87760	.	.	ENSG00000143515	ENST00000368489	D	0.89343	-2.5	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000002	D	0.96294	0.8791	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97654	1.0156	10	0.87932	D	0	.	14.1685	0.65493	0.0:0.0:0.0:1.0	.	830	P98198-3	.	G	830	ENSP00000357475:V830G	ENSP00000357475:V830G	V	+	2	0	ATP8B2	152584174	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.868000	0.87116	2.212000	0.71576	0.533000	0.62120	GTG	ATP8B2	-	superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000143515		0.557	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	151	0.66	1	T	NM_020452		154317550	154317550	+1	no_errors	ENST00000368489	ensembl	human	known	69_37n	missense	168	15.00	30	SNP	1.000	G
ATRIP	84126	genome.wustl.edu	37	3	48501287	48501287	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:48501287A>C	ENST00000320211.3	+	7	1140	c.1027A>C	c.(1027-1029)Acc>Ccc	p.T343P	ATRIP_ENST00000412052.1_Missense_Mutation_p.T250P|ATRIP_ENST00000346691.4_Missense_Mutation_p.T343P|ATRIP_ENST00000357105.6_Missense_Mutation_p.T216P	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	343				T -> A (in Ref. 2; BAF84257). {ECO:0000305}.	DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTGCTGGCACCCCCCTGCA	0.532								Other conserved DNA damage response genes																														dbGAP											0													111.0	125.0	120.0					3																	48501287		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1027A>C	3.37:g.48501287A>C	ENSP00000323099:p.Thr343Pro		A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	NULL	p.T343P	ENST00000320211.3	37	c.1027	CCDS2768.1	3	.	.	.	.	.	.	.	.	.	.	A	9.189	1.025610	0.19512	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.47869	1.41;1.41;0.83;1.41	4.93	-0.459	0.12179	.	0.664019	0.15660	N	0.250961	T	0.35393	0.0930	L	0.60455	1.87	0.28967	N	0.889491	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.003	T	0.31364	-0.9946	10	0.54805	T	0.06	-2.1172	1.7987	0.03067	0.4002:0.3416:0.0932:0.165	.	343;343	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	P	343;343;216;250	ENSP00000323099:T343P;ENSP00000302338:T343P;ENSP00000349620:T216P;ENSP00000400930:T250P	ENSP00000323099:T343P	T	+	1	0	ATRIP	48476291	0.015000	0.18098	0.540000	0.28089	0.449000	0.32228	0.159000	0.16442	0.042000	0.15717	0.533000	0.62120	ACC	ATRIP	-	NULL	ENSG00000164053		0.532	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATRIP	HGNC	protein_coding	OTTHUMT00000257507.2	119	0.83	1	A	NM_130384		48501287	48501287	+1	no_errors	ENST00000320211	ensembl	human	known	69_37n	missense	86	25.22	29	SNP	0.840	C
ATXN2	6311	genome.wustl.edu	37	12	111891575	111891575	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:111891575T>G	ENST00000377617.3	-	24	3980	c.3819A>C	c.(3817-3819)ccA>ccC	p.P1273P	ATXN2_ENST00000535949.1_Silent_p.P966P|ATXN2_ENST00000608853.1_Silent_p.P1113P|ATXN2_ENST00000389153.4_Silent_p.P1010P|ATXN2_ENST00000542287.2_Silent_p.P1033P|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1273					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)			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						GACCGCCGGGTGGCTGTGTCG	0.552																																						dbGAP											0													127.0	104.0	112.0					12																	111891575		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.3819A>C	12.37:g.111891575T>G			A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.P1273	ENST00000377617.3	37	c.3819	CCDS31902.1	12																																																																																			ATXN2	-	NULL	ENSG00000204842		0.552	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	201	0.00	0	T	NM_002973		111891575	111891575	-1	no_errors	ENST00000377617	ensembl	human	known	69_37n	silent	142	12.35	20	SNP	1.000	G
ATXN2	6311	genome.wustl.edu	37	12	111893857	111893857	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:111893857T>G	ENST00000377617.3	-	23	3881	c.3720A>C	c.(3718-3720)ccA>ccC	p.P1240P	ATXN2_ENST00000535949.1_Silent_p.P933P|ATXN2_ENST00000608853.1_Silent_p.P1080P|ATXN2_ENST00000389153.4_Silent_p.P977P|ATXN2_ENST00000542287.2_Silent_p.P975P|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1240					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)			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						CCATGTGGGGTGGGTTGGTAT	0.512																																						dbGAP											0													323.0	289.0	301.0					12																	111893857		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.3720A>C	12.37:g.111893857T>G			A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.P1240	ENST00000377617.3	37	c.3720	CCDS31902.1	12																																																																																			ATXN2	-	NULL	ENSG00000204842		0.512	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	367	0.53	2	T	NM_002973		111893857	111893857	-1	no_errors	ENST00000377617	ensembl	human	known	69_37n	silent	319	12.05	44	SNP	0.975	G
ATXN2L	11273	genome.wustl.edu	37	16	28848082	28848082	+	3'UTR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:28848082A>C	ENST00000336783.4	+	0	3891				ATXN2L_ENST00000395547.2_3'UTR|ATXN2L_ENST00000325215.6_Silent_p.P1050P|ATXN2L_ENST00000564304.1_Missense_Mutation_p.H1064P|ATXN2L_ENST00000570200.1_Missense_Mutation_p.H1058P|ATXN2L_ENST00000340394.8_Missense_Mutation_p.H1040P|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Silent_p.P1032P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like						regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTCCCCTTCCACCCCCCGGGG	0.577																																						dbGAP											0													113.0	98.0	103.0					16																	28848082		2197	4300	6497	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.*496A>C	16.37:g.28848082A>C			A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.H1040P	ENST00000336783.4	37	c.3119	CCDS10641.1	16	.	.	.	.	.	.	.	.	.	.	.	15.71	2.912512	0.52439	.	.	ENSG00000168488	ENST00000340394	T	0.50813	0.73	5.23	5.23	0.72850	.	.	.	.	.	T	0.66771	0.2823	.	.	.	0.50313	D	0.999869	D;D	0.60575	0.98;0.988	D;D	0.69654	0.924;0.965	T	0.68674	-0.5346	7	.	.	.	.	14.0997	0.65046	1.0:0.0:0.0:0.0	.	1058;1040	Q63ZY4;Q8WWM7-4	.;.	P	1040	ENSP00000341459:H1040P	.	H	+	2	0	ATXN2L	28755583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.199000	0.72112	1.977000	0.57605	0.455000	0.32223	CAC	ATXN2L	-	NULL	ENSG00000168488		0.577	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATXN2L	HGNC	protein_coding	OTTHUMT00000214139.1	116	0.00	0	A	NM_007245		28848082	28848082	+1	no_errors	ENST00000340394	ensembl	human	known	69_37n	missense	277	12.62	40	SNP	1.000	C
AUTS2	26053	genome.wustl.edu	37	7	70231288	70231288	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:70231288A>C	ENST00000342771.4	+	9	1978	c.1657A>C	c.(1657-1659)Acc>Ccc	p.T553P	AUTS2_ENST00000406775.2_Missense_Mutation_p.T553P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	553										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CATCCCACCCACCGCCATCAT	0.612																																						dbGAP											0													231.0	211.0	218.0					7																	70231288		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1657A>C	7.37:g.70231288A>C	ENSP00000344087:p.Thr553Pro		A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	prints_AUTS2	p.T553P	ENST00000342771.4	37	c.1657	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	A	12.32	1.902536	0.33628	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.12984	2.63;2.63	5.56	-1.3	0.09259	.	0.296226	0.35040	N	0.003489	T	0.14056	0.0340	L	0.43923	1.385	0.80722	D	1	P;B	0.51933	0.949;0.096	P;P	0.51701	0.677;0.568	T	0.08289	-1.0729	9	.	.	.	-4.2735	5.774	0.18269	0.6496:0.0:0.2377:0.1127	.	553;553	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	P	553	ENSP00000385263:T553P;ENSP00000344087:T553P	.	T	+	1	0	AUTS2	69869224	1.000000	0.71417	0.973000	0.42090	0.989000	0.77384	1.651000	0.37302	-0.135000	0.11495	0.459000	0.35465	ACC	AUTS2	-	NULL	ENSG00000158321		0.612	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	424	0.92	4	A			70231288	70231288	+1	no_errors	ENST00000342771	ensembl	human	known	69_37n	missense	345	15.09	62	SNP	0.993	C
AXIN2	8313	genome.wustl.edu	37	17	63554620	63554620	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:63554620A>C	ENST00000375702.5	-	1	227	c.119T>G	c.(118-120)gTg>gGg	p.V40G	AXIN2_ENST00000307078.5_Missense_Mutation_p.V40G|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	40				QPGVGKGQVTKPMSVSSNTRRNEDGL -> HHGGQGPGHQT HVCLFQHQAERRWV (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GCCCTTGCCCACCCCTGGCTG	0.677									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													dbGAP											0													46.0	49.0	48.0					17																	63554620		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.119T>G	17.37:g.63554620A>C	ENSP00000364854:p.Val40Gly		Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.V40G	ENST00000375702.5	37	c.119		17	.	.	.	.	.	.	.	.	.	.	A	1.921	-0.448442	0.04572	.	.	ENSG00000168646	ENST00000307078;ENST00000544103;ENST00000375702	T;T;T	0.78003	-0.14;-1.14;-0.14	4.74	0.684	0.18003	.	1.527690	0.03762	N	0.258263	T	0.67804	0.2932	L	0.36672	1.1	0.21386	N	0.999703	B;B;B	0.12630	0.006;0.0;0.0	B;B;B	0.14023	0.01;0.001;0.0	T	0.49194	-0.8965	10	0.36615	T	0.2	-3.4393	4.8835	0.13692	0.599:0.0:0.2587:0.1423	.	40;40;40	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	G	40	ENSP00000302625:V40G;ENSP00000441151:V40G;ENSP00000364854:V40G	ENSP00000302625:V40G	V	-	2	0	AXIN2	60985082	0.945000	0.32115	0.344000	0.25628	0.634000	0.38068	2.160000	0.42348	0.186000	0.20125	-0.441000	0.05720	GTG	AXIN2	-	NULL	ENSG00000168646		0.677	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	AXIN2	HGNC	protein_coding	OTTHUMT00000445901.1	72	0.00	0	A	NM_004655		63554620	63554620	-1	no_errors	ENST00000307078	ensembl	human	known	69_37n	missense	20	25.00	7	SNP	0.005	C
CEP131	22994	genome.wustl.edu	37	17	79180991	79180991	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:79180991A>C	ENST00000269392.4	-	4	568	c.321T>G	c.(319-321)agT>agG	p.S107R	AZI1_ENST00000374782.3_Missense_Mutation_p.S107R|AZI1_ENST00000575907.1_Missense_Mutation_p.S107R|AZI1_ENST00000450824.2_Missense_Mutation_p.S107R	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		107					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TCTTTTTCCCACTGGGGCTGC	0.642																																						dbGAP											0													64.0	62.0	63.0					17																	79180991		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000269392.4:c.321T>G	17.37:g.79180991A>C	ENSP00000269392:p.Ser107Arg		A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	superfamily_t-SNARE	p.S107R	ENST00000269392.4	37	c.321		17	.	.	.	.	.	.	.	.	.	.	a	9.271	1.045755	0.19748	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.14144	2.53;2.53;2.53	5.6	-5.27	0.02763	.	0.766622	0.12818	N	0.436634	T	0.10937	0.0267	L	0.51422	1.61	0.09310	N	0.999998	P;B;D;P	0.54397	0.911;0.279;0.966;0.63	P;B;P;B	0.47981	0.563;0.116;0.527;0.187	T	0.05801	-1.0863	10	0.36615	T	0.2	1.2646	1.3106	0.02097	0.3876:0.2699:0.1991:0.1434	.	107;107;107;107	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	R	107	ENSP00000393583:S107R;ENSP00000363914:S107R;ENSP00000269392:S107R	ENSP00000269392:S107R	S	-	3	2	AZI1	76795586	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.793000	0.04589	-0.711000	0.04995	0.477000	0.44152	AGT	AZI1	-	NULL	ENSG00000141577		0.642	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	HGNC	protein_coding	OTTHUMT00000256070.1	99	1.00	1	A			79180991	79180991	-1	no_errors	ENST00000269392	ensembl	human	known	69_37n	missense	77	17.02	16	SNP	0.000	C
B3GALT4	8705	genome.wustl.edu	37	6	33246237	33246237	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:33246237T>G	ENST00000451237.1	+	1	1321	c.1041T>G	c.(1039-1041)ggT>ggG	p.G347G		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	347					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						AGCTGGTGGGTGGCTCTGACG	0.612																																						dbGAP											0													107.0	126.0	120.0					6																	33246237		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.1041T>G	6.37:g.33246237T>G				Silent	SNP	pfam_Glyco_trans_31	p.G347	ENST00000451237.1	37	c.1041	CCDS34425.1	6																																																																																			B3GALT4	-	NULL	ENSG00000235863		0.612	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT4	HGNC	protein_coding	OTTHUMT00000076162.2	199	0.99	2	T			33246237	33246237	+1	no_errors	ENST00000451237	ensembl	human	known	69_37n	silent	92	14.02	15	SNP	0.000	G
BAHD1	22893	genome.wustl.edu	37	15	40754251	40754251	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:40754251A>C	ENST00000416165.1	+	3	1644	c.1573A>C	c.(1573-1575)Acc>Ccc	p.T525P	RP11-64K12.8_ENST00000559730.1_RNA|BAHD1_ENST00000561234.1_Missense_Mutation_p.T524P|BAHD1_ENST00000560846.1_Missense_Mutation_p.T525P	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	525					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)		TCAGACACCCACCTCGGAGCC	0.672																																						dbGAP											0													47.0	46.0	46.0					15																	40754251		2203	4300	6503	-	-	-	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.1573A>C	15.37:g.40754251A>C	ENSP00000396976:p.Thr525Pro		Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.T525P	ENST00000416165.1	37	c.1573	CCDS10058.1	15	.	.	.	.	.	.	.	.	.	.	A	16.31	3.086722	0.55861	.	.	ENSG00000140320	ENST00000416165	T	0.57907	0.37	5.96	5.96	0.96718	.	0.229124	0.44902	D	0.000418	T	0.35189	0.0923	N	0.08118	0	0.25774	N	0.9848	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.08055	0.003;0.001;0.003	T	0.19614	-1.0300	10	0.34782	T	0.22	-13.1675	16.4343	0.83869	1.0:0.0:0.0:0.0	.	525;525;524	Q8TBE0-3;Q8TBE0;Q8TBE0-2	.;BAHD1_HUMAN;.	P	525	ENSP00000396976:T525P	ENSP00000396976:T525P	T	+	1	0	BAHD1	38541543	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	5.211000	0.65219	2.285000	0.76669	0.528000	0.53228	ACC	BAHD1	-	NULL	ENSG00000140320		0.672	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BAHD1	HGNC	protein_coding	OTTHUMT00000252248.1	66	0.00	0	A	NM_014952		40754251	40754251	+1	no_errors	ENST00000416165	ensembl	human	known	69_37n	missense	49	15.52	9	SNP	1.000	C
BAIAP3	8938	genome.wustl.edu	37	16	1390984	1390984	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:1390984T>G	ENST00000324385.5	+	6	731		c.e6+2		BAIAP3_ENST00000397489.1_Splice_Site|BAIAP3_ENST00000397488.2_Splice_Site|BAIAP3_ENST00000568887.1_Splice_Site|BAIAP3_ENST00000562208.1_Splice_Site|BAIAP3_ENST00000426824.3_Splice_Site|BAIAP3_ENST00000421665.2_Splice_Site	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3						G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AAGGCCAAGGTGAGGCCGCCA	0.667																																						dbGAP											0													35.0	29.0	31.0					16																	1390984		2173	4284	6457	-	-	-	SO:0001630	splice_region_variant	0			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.573+2T>G	16.37:g.1390984T>G			A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Splice_Site	SNP	-	e6+2	ENST00000324385.5	37	c.573+2	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748850	0.30955	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	.	.	.	4.32	4.32	0.51571	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.066	0.53588	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAIAP3	1330985	1.000000	0.71417	0.999000	0.59377	0.049000	0.14656	5.930000	0.70104	1.892000	0.54788	0.383000	0.25322	.	BAIAP3	-	-	ENSG00000007516		0.667	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	54	0.00	0	T		Intron	1390984	1390984	+1	no_errors	ENST00000324385	ensembl	human	known	69_37n	splice_site	35	23.91	11	SNP	1.000	G
BCAP31	10134	genome.wustl.edu	37	X	152966356	152966356	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:152966356T>G	ENST00000345046.6	-	0	1184				BCAP31_ENST00000441714.1_3'UTR|BCAP31_ENST00000458587.2_3'UTR	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|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 intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACGTGCCAGGTGGAAGCCAGC	0.587																																						dbGAP											0													91.0	65.0	73.0					X																	152966356		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.*36A>C	X.37:g.152966356T>G			B3KQ79|D3DWV5|Q13836|Q96CF0	RNA	SNP	-	NULL	ENST00000345046.6	37	NULL	CCDS14727.1	X																																																																																			BCAP31	-	-	ENSG00000185825		0.587	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAP31	HGNC	protein_coding	OTTHUMT00000061071.1	129	0.00	0	T	NM_005745		152966356	152966356	-1	no_errors	ENST00000477175	ensembl	human	known	69_37n	rna	77	14.29	13	SNP	0.000	G
BCKDHA	593	genome.wustl.edu	37	19	41929027	41929027	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:41929027T>G	ENST00000269980.2	+	8	1488	c.1120T>G	c.(1120-1122)Tgg>Ggg	p.W374G	B3GNT8_ENST00000601379.1_5'Flank|BCKDHA_ENST00000457836.2_Missense_Mutation_p.W377G|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.W408G|CTC-435M10.6_ENST00000598887.1_RNA|BCKDHA_ENST00000595085.1_Missense_Mutation_p.W408G	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	374					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCAAGGCTGGTGGGATGAGGA	0.647																																						dbGAP											0													47.0	44.0	45.0					19																	41929027		2189	4279	6468	-	-	-	SO:0001583	missense	0			J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.1120T>G	19.37:g.41929027T>G	ENSP00000269980:p.Trp374Gly		B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase_N	p.W374G	ENST00000269980.2	37	c.1120	CCDS12581.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.2|23.2	4.386187|4.386187	0.82902|0.82902	.|.	.|.	ENSG00000248098|ENSG00000255730;ENSG00000248098;ENSG00000248098	ENST00000544905|ENST00000540732;ENST00000269980;ENST00000457836	.|D;D;D	.|0.96011	.|-3.88;-3.88;-3.88	5.8|5.8	5.8|5.8	0.92144|0.92144	.|Dehydrogenase, E1 component (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98346|0.98346	0.9451|0.9451	H|H	0.94385|0.94385	3.53|3.53	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.999;0.998;0.998;0.994	D|D	0.99548|0.99548	1.0965|1.0965	5|10	.|0.87932	.|D	.|0	-31.579|-31.579	15.131|15.131	0.72523|0.72523	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|377;373;374;408	.|B4DP47;Q59EI3;P12694;F5H5P2	.|.;.;ODBA_HUMAN;.	G|G	5|408;374;377	.|ENSP00000443246:W408G;ENSP00000269980:W374G;ENSP00000416000:W377G	.|ENSP00000269980:W374G	V|W	+|+	2|1	0|0	BCKDHA|BCKDHA;CTC-435M10.3	46620867|46620867	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	5.653000|5.653000	0.67967|0.67967	2.226000|2.226000	0.72624|0.72624	0.459000|0.459000	0.35465|0.35465	GTG|TGG	BCKDHA	-	pfam_DH_E1	ENSG00000248098		0.647	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCKDHA	HGNC	protein_coding	OTTHUMT00000398313.3	144	0.68	1	T	NM_000709		41929027	41929027	+1	no_errors	ENST00000269980	ensembl	human	known	69_37n	missense	75	19.35	18	SNP	1.000	G
BCL11A	53335	genome.wustl.edu	37	2	60687509	60687509	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:60687509T>G	ENST00000335712.6	-	0	2765				BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Intron|BCL11A_ENST00000358510.4_3'UTR|BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)						B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGTGTCAGGTGGGAGTGAGG	0.443			T	IGH@	B-CLL																																	dbGAP		Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													60.0	66.0	64.0					2																	60687509		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.*30A>C	2.37:g.60687509T>G			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	RNA	SNP	-	NULL	ENST00000335712.6	37	NULL	CCDS1862.1	2																																																																																			BCL11A	-	-	ENSG00000119866		0.443	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	77	0.00	0	T	NM_022893		60687509	60687509	-1	no_errors	ENST00000477659	ensembl	human	known	69_37n	rna	35	20.45	9	SNP	0.969	G
BCL11A	53335	genome.wustl.edu	37	2	60689267	60689267	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:60689267T>G	ENST00000335712.6	-	4	1007	c.780A>C	c.(778-780)ccA>ccC	p.P260P	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Silent_p.P226P|BCL11A_ENST00000358510.4_Silent_p.P226P|BCL11A_ENST00000356842.4_Silent_p.P260P|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	260	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGGGAGTGGGTGGAAAGCGCC	0.577			T	IGH@	B-CLL																																	dbGAP		Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													50.0	54.0	53.0					2																	60689267		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.780A>C	2.37:g.60689267T>G			D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P260	ENST00000335712.6	37	c.780	CCDS1862.1	2																																																																																			BCL11A	-	NULL	ENSG00000119866		0.577	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	77	0.00	0	T	NM_022893		60689267	60689267	-1	no_errors	ENST00000335712	ensembl	human	known	69_37n	silent	49	26.87	18	SNP	1.000	G
BCL2L11	10018	genome.wustl.edu	37	2	111881520	111881520	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:111881520A>C	ENST00000393256.3	+	2	471	c.198A>C	c.(196-198)ccA>ccC	p.P66P	BCL2L11_ENST00000337565.5_Intron|BCL2L11_ENST00000357757.2_Silent_p.P66P|BCL2L11_ENST00000393253.2_Intron|BCL2L11_ENST00000405953.1_Intron|BCL2L11_ENST00000308659.8_Intron	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	66					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CGCTGGCCCCACCTGCCAGCC	0.582																																						dbGAP											0													43.0	51.0	48.0					2																	111881520		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.198A>C	2.37:g.111881520A>C			A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Silent	SNP	pfam_Bcl-x_interacting,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11	p.P66	ENST00000393256.3	37	c.198	CCDS2089.1	2																																																																																			BCL2L11	-	pirsf_Bcl-2-like_11	ENSG00000153094		0.582	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L11	HGNC	protein_coding	OTTHUMT00000254022.3	102	0.95	1	A			111881520	111881520	+1	no_errors	ENST00000393256	ensembl	human	known	69_37n	silent	65	26.14	23	SNP	0.955	C
BCL6B	255877	genome.wustl.edu	37	17	6928491	6928491	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:6928491A>C	ENST00000293805.5	+	5	953	c.861A>C	c.(859-861)tcA>tcC	p.S287S		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	287					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			skin(1)	1						CCTCTGGATCACCCTCTGAAC	0.567																																						dbGAP											0													131.0	137.0	135.0					17																	6928491		1916	4130	6046	-	-	-	SO:0001819	synonymous_variant	0			AI672318	CCDS42248.1	17p13.1	2014-06-10	2010-04-14		ENSG00000161940	ENSG00000161940		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1002	protein-coding gene	gene with protein product		608992	"""zinc finger protein 62"", ""B-cell CLL/lymphoma 6, member B (zinc finger protein)"""	ZNF62		9632807	Standard	NM_181844		Approved	ZBTB28, BAZF	uc010clt.1	Q8N143	OTTHUMG00000177882	ENST00000293805.5:c.861A>C	17.37:g.6928491A>C			Q6PCB4	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S287	ENST00000293805.5	37	c.861	CCDS42248.1	17																																																																																			BCL6B	-	NULL	ENSG00000161940		0.567	BCL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6B	HGNC	protein_coding	OTTHUMT00000439455.2	143	0.68	1	A	NM_181844		6928491	6928491	+1	no_errors	ENST00000293805	ensembl	human	known	69_37n	silent	130	19.14	31	SNP	0.077	C
BCL9L	283149	genome.wustl.edu	37	11	118769686	118769686	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:118769686A>C	ENST00000334801.3	-	8	4902	c.3938T>G	c.(3937-3939)gTg>gGg	p.V1313G	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1313	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGGCCGGATCACCTCGCTCAG	0.642																																						dbGAP											0													49.0	49.0	49.0					11																	118769686		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3938T>G	11.37:g.118769686A>C	ENSP00000335320:p.Val1313Gly		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.V1313G	ENST00000334801.3	37	c.3938	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	A	20.4	3.975985	0.74360	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.61510	0.1	4.28	3.14	0.36123	.	0.176063	0.26563	N	0.023667	T	0.62307	0.2417	M	0.62723	1.935	0.80722	D	1	D;P	0.53462	0.96;0.933	P;P	0.52217	0.693;0.497	T	0.63752	-0.6566	10	0.87932	D	0	-20.8648	9.7143	0.40265	0.916:0.0:0.084:0.0	.	1308;1313	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	G	1313;1276;559;1313;1268	ENSP00000335320:V1313G	ENSP00000335320:V1313G	V	-	2	0	BCL9L	118274896	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.269000	0.95684	0.623000	0.30267	0.248000	0.18094	GTG	BCL9L	-	NULL	ENSG00000186174		0.642	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	41	0.00	0	A	NM_182557		118769686	118769686	-1	no_errors	ENST00000334801	ensembl	human	known	69_37n	missense	32	23.91	11	SNP	1.000	C
BCL9L	283149	genome.wustl.edu	37	11	118770852	118770852	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:118770852A>G	ENST00000334801.3	-	7	4144	c.3180T>C	c.(3178-3180)ccT>ccC	p.P1060P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1060	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGCCGCTGGGAGGGTTGGCGG	0.632																																						dbGAP											0													68.0	69.0	69.0					11																	118770852		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3180T>C	11.37:g.118770852A>G			A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	NULL	p.L355P	ENST00000334801.3	37	c.1064	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	A	11.13	1.549498	0.27652	.	.	ENSG00000186174	ENST00000530293	.	.	.	4.38	-0.701	0.11269	.	.	.	.	.	T	0.43055	0.1230	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24476	-1.0159	4	.	.	.	-5.3538	3.5223	0.07747	0.28:0.0:0.3836:0.3364	.	.	.	.	P	80	.	.	L	-	2	0	BCL9L	118276062	0.992000	0.36948	0.998000	0.56505	0.981000	0.71138	0.484000	0.22308	-0.040000	0.13580	-0.496000	0.04628	CTC	BCL9L	-	NULL	ENSG00000186174		0.632	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	65	0.00	0	A	NM_182557		118770852	118770852	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525300	ensembl	human	novel	69_37n	missense	77	12.50	11	SNP	0.980	G
BEND6	221336	genome.wustl.edu	37	6	56857305	56857305	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:56857305A>C	ENST00000370746.3	+	3	519	c.250A>C	c.(250-252)Acc>Ccc	p.T84P	BEND6_ENST00000370750.2_Missense_Mutation_p.T84P|BEND6_ENST00000370748.3_Missense_Mutation_p.T84P|BEND6_ENST00000370745.1_Missense_Mutation_p.T84P	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	84					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						ACTAACAAACACCCGGAAAGA	0.393																																						dbGAP											0													138.0	143.0	142.0					6																	56857305		1809	4075	5884	-	-	-	SO:0001583	missense	0			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.250A>C	6.37:g.56857305A>C	ENSP00000359782:p.Thr84Pro		Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	pfam_BEN_domain	p.T84P	ENST00000370746.3	37	c.250	CCDS43476.1	6	.	.	.	.	.	.	.	.	.	.	A	20.2	3.954645	0.73902	.	.	ENSG00000151917	ENST00000322055;ENST00000370750;ENST00000370748;ENST00000370746;ENST00000370745	.	.	.	5.13	5.13	0.70059	.	0.286431	0.30210	N	0.010148	T	0.26666	0.0652	N	0.19112	0.55	0.80722	D	1	P	0.43094	0.799	B	0.40410	0.328	T	0.25433	-1.0132	9	0.62326	D	0.03	-0.4386	12.9754	0.58534	1.0:0.0:0.0:0.0	.	84	Q5SZJ8	BEND6_HUMAN	P	84	.	ENSP00000322773:T84P	T	+	1	0	BEND6	56965264	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	5.313000	0.65798	2.069000	0.61940	0.459000	0.35465	ACC	BEND6	-	NULL	ENSG00000151917		0.393	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND6	HGNC	protein_coding	OTTHUMT00000041032.4	300	0.33	1	A	NM_152731		56857305	56857305	+1	no_errors	ENST00000370746	ensembl	human	known	69_37n	missense	157	15.96	30	SNP	1.000	C
BFSP1	631	genome.wustl.edu	37	20	17475140	17475140	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:17475140A>C	ENST00000377873.3	-	8	1616	c.1577T>G	c.(1576-1578)gTg>gGg	p.V526G	BFSP1_ENST00000544874.1_Missense_Mutation_p.V387G|BFSP1_ENST00000377868.2_Missense_Mutation_p.V401G|BFSP1_ENST00000536626.1_Missense_Mutation_p.V387G	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	526	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTGCAGACCCACCTGCCCATT	0.547																																						dbGAP											0													60.0	53.0	55.0					20																	17475140		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1577T>G	20.37:g.17475140A>C	ENSP00000367104:p.Val526Gly		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin	p.V526G	ENST00000377873.3	37	c.1577	CCDS13126.1	20	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046112	0.08243	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.21	-7.13	0.01532	.	1.043390	0.07451	N	0.899020	T	0.17704	0.0425	N	0.10874	0.06	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39121	-0.9629	10	0.07990	T	0.79	-6.4468	10.2162	0.43170	0.0954:0.3034:0.0:0.6012	.	401;526	Q12934-2;Q12934	.;BFSP1_HUMAN	G	526;401;387;387	ENSP00000367104:V526G;ENSP00000367099:V401G;ENSP00000442522:V387G;ENSP00000439870:V387G	ENSP00000367099:V401G	V	-	2	0	BFSP1	17423140	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.348000	0.02629	-1.406000	0.02045	-1.392000	0.01152	GTG	BFSP1	-	NULL	ENSG00000125864		0.547	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP1	HGNC	protein_coding	OTTHUMT00000078119.6	63	0.00	0	A	NM_001195		17475140	17475140	-1	no_errors	ENST00000377873	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	0.000	C
BGN	633	genome.wustl.edu	37	X	152773776	152773776	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:152773776T>G	ENST00000331595.4	+	8	1166	c.980T>G	c.(979-981)gTg>gGg	p.V327G	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	327					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCTTCGGGGTGAAGCGGGCC	0.617																																						dbGAP											0													171.0	143.0	152.0					X																	152773776		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.980T>G	X.37:g.152773776T>G	ENSP00000327336:p.Val327Gly		D3DWU3|P13247	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.V327G	ENST00000331595.4	37	c.980	CCDS14721.1	X	.	.	.	.	.	.	.	.	.	.	t	10.90	1.480166	0.26598	.	.	ENSG00000182492	ENST00000331595;ENST00000370204;ENST00000430380	T;T	0.04156	3.69;3.69	4.94	3.77	0.43336	.	0.113958	0.64402	D	0.000016	T	0.03477	0.0100	N	0.14661	0.345	0.58432	D	0.999991	B	0.06786	0.001	B	0.06405	0.002	T	0.44651	-0.9314	10	0.72032	D	0.01	-37.3781	9.0549	0.36399	0.0:0.091:0.0:0.909	.	327	P21810	PGS1_HUMAN	G	327;266;266	ENSP00000327336:V327G;ENSP00000359223:V266G	ENSP00000327336:V327G	V	+	2	0	BGN	152426970	0.190000	0.23276	0.254000	0.24359	0.622000	0.37654	0.865000	0.27940	0.668000	0.31126	0.422000	0.28245	GTG	BGN	-	pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000182492		0.617	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGN	HGNC	protein_coding	OTTHUMT00000060981.1	71	0.00	0	T	NM_001711		152773776	152773776	+1	no_errors	ENST00000331595	ensembl	human	known	69_37n	missense	47	21.67	13	SNP	0.939	G
BIN2	51411	genome.wustl.edu	37	12	51685633	51685633	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:51685633T>G	ENST00000267012.4	-	10	1318	c.1257A>C	c.(1255-1257)ccA>ccC	p.P419P	BIN2_ENST00000604560.1_Silent_p.P392P|BIN2_ENST00000544402.1_Silent_p.P393P|BIN2_ENST00000452142.2_Silent_p.P387P	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	419	Pro-rich.				cell chemotaxis (GO:0060326)|membrane tubulation (GO:0097320)|phagocytosis, engulfment (GO:0006911)|podosome assembly (GO:0071800)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|podosome (GO:0002102)	phospholipid binding (GO:0005543)			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						TGGCTCTGGGTGGAGGAGGCC	0.607																																						dbGAP											0													60.0	61.0	61.0					12																	51685633		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AF146531	CCDS8811.1	12q13.13	2012-01-23			ENSG00000110934	ENSG00000110934			1053	protein-coding gene	gene with protein product		605936				10903846	Standard	XM_005268957		Approved	BRAP-1	uc001ryg.3	Q9UBW5		ENST00000267012.4:c.1257A>C	12.37:g.51685633T>G			Q86VV0|Q9NWK4|Q9UKN4	Silent	SNP	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom,prints_Amphiphysin	p.P419	ENST00000267012.4	37	c.1257	CCDS8811.1	12																																																																																			BIN2	-	NULL	ENSG00000110934		0.607	BIN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BIN2	HGNC	protein_coding	OTTHUMT00000469800.1	194	1.00	2	T			51685633	51685633	-1	no_errors	ENST00000267012	ensembl	human	known	69_37n	silent	96	17.80	21	SNP	0.993	G
BMPR2	659	genome.wustl.edu	37	2	203420216	203420216	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:203420216A>C	ENST00000374580.4	+	12	2367	c.1828A>C	c.(1828-1830)Acc>Ccc	p.T610P	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	610	Poly-Thr.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CAGCCTCTCCACCAACACAAC	0.453																																						dbGAP											0													156.0	131.0	139.0					2																	203420216		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1828A>C	2.37:g.203420216A>C	ENSP00000363708:p.Thr610Pro		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	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	p.T610P	ENST00000374580.4	37	c.1828	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	A	18.14	3.556979	0.65425	.	.	ENSG00000204217	ENST00000374580	D	0.83075	-1.68	5.74	5.74	0.90152	.	0.294550	0.37219	N	0.002193	T	0.80226	0.4584	L	0.27053	0.805	0.80722	D	1	D	0.56968	0.978	P	0.49140	0.601	T	0.82855	-0.0251	10	0.62326	D	0.03	.	15.7076	0.77598	1.0:0.0:0.0:0.0	.	610	Q13873	BMPR2_HUMAN	P	610	ENSP00000363708:T610P	ENSP00000363708:T610P	T	+	1	0	BMPR2	203128461	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.299000	0.59073	2.192000	0.70111	0.528000	0.53228	ACC	BMPR2	-	NULL	ENSG00000204217		0.453	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	298	0.33	1	A	NM_001204		203420216	203420216	+1	no_errors	ENST00000374580	ensembl	human	known	69_37n	missense	190	12.04	26	SNP	1.000	C
BOD1L1	259282	genome.wustl.edu	37	4	13571669	13571669	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:13571669A>C	ENST00000040738.5	-	26	9257	c.9122T>G	c.(9121-9123)gTg>gGg	p.V3041G		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	3041						nucleus (GO:0005634)	DNA binding (GO:0003677)										GGCTTCCTCCACCCTTTGCTG	0.537																																						dbGAP											0													133.0	116.0	122.0					4																	13571669		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.9122T>G	4.37:g.13571669A>C	ENSP00000040738:p.Val3041Gly		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.V3041G	ENST00000040738.5	37	c.9122	CCDS3411.2	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.215|9.215	1.032034|1.032034	0.19590|0.19590	.|.	.|.	ENSG00000038219|ENSG00000038219	ENST00000040738|ENST00000507943	T|.	0.08720|.	3.06|.	4.85|4.85	2.1|2.1	0.27182|0.27182	.|.	0.286966|.	0.24481|.	N|.	0.038147|.	T|T	0.34919|0.34919	0.0914|0.0914	N|N	0.19112|0.19112	0.55|0.55	0.46749|0.46749	D|D	0.999187|0.999187	B|.	0.22276|.	0.067|.	B|.	0.17433|.	0.018|.	T|T	0.06144|0.06144	-1.0843|-1.0843	10|5	0.66056|.	D|.	0.02|.	-0.475|-0.475	4.2876|4.2876	0.10862|0.10862	0.4585:0.4123:0.1292:0.0|0.4585:0.4123:0.1292:0.0	.|.	3041|.	Q8NFC6|.	BOD1L_HUMAN|.	G|G	3041|197	ENSP00000040738:V3041G|.	ENSP00000040738:V3041G|.	V|W	-|-	2|1	0|0	BOD1L|BOD1L	13180767|13180767	0.079000|0.079000	0.21365|0.21365	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	1.147000|1.147000	0.31602|0.31602	0.756000|0.756000	0.33013|0.33013	0.533000|0.533000	0.62120|0.62120	GTG|TGG	BOD1L1	-	NULL	ENSG00000038219		0.537	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	279	0.71	2	A	NM_148894		13571669	13571669	-1	no_errors	ENST00000040738	ensembl	human	known	69_37n	missense	319	14.13	53	SNP	0.998	C
BPIFB4	149954	genome.wustl.edu	37	20	31671648	31671648	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:31671648T>G	ENST00000375483.3	+	3	645	c.645T>G	c.(643-645)ggT>ggG	p.G215G		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	215	Gly-rich.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										TCGGCGAGGGTGGCATCCTCA	0.637																																						dbGAP											0													35.0	41.0	39.0					20																	31671648		2196	4288	6484	-	-	-	SO:0001819	synonymous_variant	0			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.645T>G	20.37:g.31671648T>G			Q5TDX6	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.G215	ENST00000375483.3	37	c.645	CCDS13213.2	20																																																																																			BPIFB4	-	pfam_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_N	ENSG00000186191		0.637	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	82	0.00	0	T	NM_182519		31671648	31671648	+1	no_errors	ENST00000375483	ensembl	human	known	69_37n	silent	53	15.87	10	SNP	0.986	G
BRD3	8019	genome.wustl.edu	37	9	136905231	136905231	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:136905231A>C	ENST00000303407.7	-	9	1753	c.1568T>G	c.(1567-1569)gTg>gGg	p.V523G	BRD3_ENST00000357885.2_Missense_Mutation_p.V523G|BRD3_ENST00000473349.1_Intron|BRD3_ENST00000371834.2_Missense_Mutation_p.V523G	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	523	Lys-rich.				chromatin modification (GO:0016568)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|lysine-acetylated histone binding (GO:0070577)		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AGGCGGAGCCACCTTGGcctt	0.577			T	C15orf55	lethal midline carcinoma of young people																																	dbGAP		Dom	yes		9	9q34	8019	bromodomain containing 3		E	0													101.0	64.0	77.0					9																	136905231		2201	4295	6496	-	-	-	SO:0001583	missense	0				CCDS6980.1	9q34	2010-12-23	2002-01-14		ENSG00000169925	ENSG00000169925			1104	protein-coding gene	gene with protein product	"""RING3-like"""	601541	"""bromodomain-containing 3"""			7584044, 8781126	Standard	NM_007371		Approved	RING3L, ORFX, KIAA0043	uc004cew.3	Q15059	OTTHUMG00000021004	ENST00000303407.7:c.1568T>G	9.37:g.136905231A>C	ENSP00000305918:p.Val523Gly		B1APD9|Q4G5Y3|Q5T1R7|Q8N5M3|Q92645	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.V523G	ENST00000303407.7	37	c.1568	CCDS6980.1	9	.	.	.	.	.	.	.	.	.	.	A	9.588	1.125288	0.20959	.	.	ENSG00000169925	ENST00000303407;ENST00000540795;ENST00000371834;ENST00000357885	T;T;T	0.22134	1.97;1.97;1.97	4.71	-8.99	0.00751	.	1.173640	0.06151	N	0.674236	T	0.09730	0.0239	N	0.08118	0	0.26343	N	0.977329	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.35351	-0.9792	10	0.23302	T	0.38	-2.2032	14.6922	0.69093	0.1797:0.111:0.7093:0.0	.	523;523	Q15059-2;Q15059	.;BRD3_HUMAN	G	523;202;523;523	ENSP00000305918:V523G;ENSP00000360900:V523G;ENSP00000350557:V523G	ENSP00000305918:V523G	V	-	2	0	BRD3	135895052	0.000000	0.05858	0.002000	0.10522	0.933000	0.57130	-0.232000	0.09055	-1.729000	0.01364	0.459000	0.35465	GTG	BRD3	-	NULL	ENSG00000169925		0.577	BRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD3	HGNC	protein_coding	OTTHUMT00000055390.4	75	0.00	0	A	NM_007371		136905231	136905231	-1	no_errors	ENST00000303407	ensembl	human	known	69_37n	missense	73	18.48	17	SNP	0.000	C
BSDC1	55108	genome.wustl.edu	37	1	32842047	32842047	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:32842047A>C	ENST00000455895.2	-	9	1005	c.972T>G	c.(970-972)ggT>ggG	p.G324G	BSDC1_ENST00000449308.1_Silent_p.G324G|BSDC1_ENST00000526031.1_Silent_p.G229G|BSDC1_ENST00000419121.2_Silent_p.G268G|BSDC1_ENST00000413080.1_Silent_p.G263G|BSDC1_ENST00000446293.2_Silent_p.G341G|BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000341071.7_Silent_p.G341G	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	324										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCCAGTCTCACCCACATCCA	0.632																																						dbGAP											0													84.0	79.0	80.0					1																	32842047		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.972T>G	1.37:g.32842047A>C			B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Silent	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.G341	ENST00000455895.2	37	c.1023	CCDS363.2	1																																																																																			BSDC1	-	NULL	ENSG00000160058		0.632	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	114	0.86	1	A	NM_018045		32842047	32842047	-1	no_errors	ENST00000341071	ensembl	human	known	69_37n	silent	55	20.29	14	SNP	0.921	C
BST2	684	genome.wustl.edu	37	19	17516117	17516117	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:17516117T>G	ENST00000252593.6	-	1	340	c.268A>C	c.(268-270)Acc>Ccc	p.T90P	BST2_ENST00000527220.1_5'UTR|CTD-2521M24.9_ENST00000500836.2_lincRNA	NM_004335.2	NP_004326.1	Q10589	BST2_HUMAN	bone marrow stromal cell antigen 2	90					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of plasmacytoid dendritic cell cytokine production (GO:0002737)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of actin cytoskeleton organization (GO:0032956)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|signal transduction (GO:0007165)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metalloendopeptidase inhibitor activity (GO:0008191)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						TGGTTGCAGGTGGCGGCCTGG	0.582																																						dbGAP											0													39.0	37.0	38.0					19																	17516117		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12358.1	19p13.2	2009-10-30				ENSG00000130303		"""CD molecules"""	1119	protein-coding gene	gene with protein product		600534				7607676	Standard	NM_004335		Approved	CD317, tetherin	uc002ngl.3	Q10589		ENST00000252593.6:c.268A>C	19.37:g.17516117T>G	ENSP00000252593:p.Thr90Pro		A8K4Y4|Q53G07	Missense_Mutation	SNP	superfamily_Prefoldin	p.T90P	ENST00000252593.6	37	c.268	CCDS12358.1	19	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316024	0.40996	.	.	ENSG00000130303	ENST00000416178;ENST00000252593	T	0.42513	0.97	2.79	-2.71	0.05986	.	.	.	.	.	T	0.51092	0.1654	M	0.66939	2.045	0.09310	N	1	D	0.63880	0.993	D	0.75020	0.985	T	0.45234	-0.9275	9	0.87932	D	0	-10.5857	0.6581	0.00838	0.4491:0.1293:0.1654:0.2562	.	90	Q10589	BST2_HUMAN	P	90	ENSP00000252593:T90P	ENSP00000252593:T90P	T	-	1	0	BST2	17377117	0.001000	0.12720	0.003000	0.11579	0.003000	0.03518	-1.169000	0.03120	-0.789000	0.04498	0.402000	0.26972	ACC	BST2	-	superfamily_Prefoldin	ENSG00000130303		0.582	BST2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BST2	HGNC	protein_coding	OTTHUMT00000387346.1	67	0.00	0	T	NM_004335		17516117	17516117	-1	no_errors	ENST00000252593	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	0.004	G
BTBD16	118663	genome.wustl.edu	37	10	124036351	124036351	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:124036351T>G	ENST00000260723.4	+	3	315	c.64T>G	c.(64-66)Tgg>Ggg	p.W22G	BTBD16_ENST00000368994.2_Missense_Mutation_p.W23G	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	22										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AACCAACCGGTGGCGTTTGCC	0.493																																						dbGAP											0													105.0	101.0	103.0					10																	124036351		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.64T>G	10.37:g.124036351T>G	ENSP00000260723:p.Trp22Gly		A6NM63|Q4VXL1|Q96LN0	Missense_Mutation	SNP	superfamily_BTB/POZ_fold	p.W23G	ENST00000260723.4	37	c.67	CCDS31301.1	10	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552322	0.65311	.	.	ENSG00000138152	ENST00000260723;ENST00000368994	T;T	0.43294	0.96;0.95	4.9	4.9	0.64082	.	0.000000	0.52532	D	0.000069	T	0.61726	0.2370	M	0.73962	2.25	0.37486	D	0.916176	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.69491	-0.5131	10	0.66056	D	0.02	-15.9534	11.1533	0.48473	0.0:0.0:0.0:1.0	.	23;22	Q32M84-2;Q32M84	.;BTBDG_HUMAN	G	22;23	ENSP00000260723:W22G;ENSP00000357990:W23G	ENSP00000260723:W22G	W	+	1	0	BTBD16	124026341	0.998000	0.40836	1.000000	0.80357	0.920000	0.55202	1.917000	0.39996	2.182000	0.69389	0.529000	0.55759	TGG	BTBD16	-	NULL	ENSG00000138152		0.493	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BTBD16	HGNC	protein_coding	OTTHUMT00000050780.3	186	0.00	0	T	NM_144587		124036351	124036351	+1	no_errors	ENST00000368994	ensembl	human	known	69_37n	missense	112	17.65	24	SNP	1.000	G
BTBD19	149478	genome.wustl.edu	37	1	45277772	45277772	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:45277772T>G	ENST00000450269.1	+	4	753		c.e4+2		BTBD19_ENST00000453418.1_Splice_Site|BTBD19_ENST00000409335.2_Intron	NM_001136537.1	NP_001130009.1	C9JJ37	BTBDJ_HUMAN	BTB (POZ) domain containing 19											breast(1)|endometrium(1)	2						GCCCTGCAGGTGGGTGCTGCT	0.587																																						dbGAP											0													211.0	183.0	192.0					1																	45277772		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0					1p34.1	2013-01-08			ENSG00000222009	ENSG00000222009		"""BTB/POZ domain containing"""	27145	protein-coding gene	gene with protein product							Standard	NM_001136537		Approved		uc010ole.1	C9JJ37	OTTHUMG00000008493	ENST00000450269.1:c.414+2T>G	1.37:g.45277772T>G			B4E384|B7ZC36|B7ZC37	Splice_Site	SNP	-	e4+2	ENST00000450269.1	37	c.414+2		1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629583	0.67015	.	.	ENSG00000222009	ENST00000450269;ENST00000453418	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1414	0.48404	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BTBD19	45050359	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.254000	0.58798	1.825000	0.53177	0.377000	0.23210	.	BTBD19	-	-	ENSG00000222009		0.587	BTBD19-201	KNOWN	basic|appris_principal	protein_coding	BTBD19	HGNC	protein_coding		277	0.71	2	T	NM_001136537	Intron	45277772	45277772	+1	no_errors	ENST00000450269	ensembl	human	known	69_37n	splice_site	312	12.78	46	SNP	1.000	G
BTN2A2	10385	genome.wustl.edu	37	6	26385288	26385288	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:26385288T>G	ENST00000356709.4	+	3	251	c.140T>G	c.(139-141)gTg>gGg	p.V47G	BTN2A2_ENST00000469230.1_Missense_Mutation_p.V47G|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.V47G|BTN2A2_ENST00000432533.2_Missense_Mutation_p.V47G|BTN2A2_ENST00000352867.2_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	47	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CTGGCCATGGTGGGAGAAAAC	0.527																																						dbGAP											0													113.0	91.0	99.0					6																	26385288		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.140T>G	6.37:g.26385288T>G	ENSP00000349143:p.Val47Gly		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.V47G	ENST00000356709.4	37	c.140	CCDS4606.1	6	.	.	.	.	.	.	.	.	.	.	t	13.45	2.241673	0.39598	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000493275;ENST00000432533;ENST00000416795;ENST00000494184	T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;4.04	3.63	2.44	0.29823	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.659015	0.13204	N	0.405749	T	0.74222	0.3688	M	0.92367	3.3	0.47905	D	0.999549	P;D;B	0.54601	0.944;0.967;0.389	B;P;B	0.58210	0.324;0.835;0.271	T	0.74080	-0.3780	10	0.87932	D	0	.	6.9059	0.24309	0.0:0.1197:0.0:0.8803	.	47;47;47	B4DQ01;Q8WVV5-2;Q8WVV5	.;.;BT2A2_HUMAN	G	47	ENSP00000417472:V47G;ENSP00000349143:V47G;ENSP00000418857:V47G;ENSP00000394241:V47G;ENSP00000399308:V47G;ENSP00000417511:V47G	ENSP00000349143:V47G	V	+	2	0	BTN2A2	26493267	0.290000	0.24343	0.921000	0.36526	0.235000	0.25334	0.830000	0.27462	0.307000	0.22880	0.248000	0.18094	GTG	BTN2A2	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000124508		0.527	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A2	HGNC	protein_coding	OTTHUMT00000040117.1	211	0.00	0	T			26385288	26385288	+1	no_errors	ENST00000356709	ensembl	human	known	69_37n	missense	175	12.44	25	SNP	0.949	G
BTN2A1	11120	genome.wustl.edu	37	6	26459915	26459915	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:26459915A>C	ENST00000312541.5	+	3	537	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	BTN2A1_ENST00000469185.1_Missense_Mutation_p.T97P|BTN2A1_ENST00000541522.1_Missense_Mutation_p.T36P|BTN2A1_ENST00000429381.1_Missense_Mutation_p.T97P	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	97	Ig-like V-type.				lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						AGGAAGAACCACCTTTGTGAG	0.552																																						dbGAP											0													167.0	137.0	147.0					6																	26459915		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.289A>C	6.37:g.26459915A>C	ENSP00000312158:p.Thr97Pro		B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.T97P	ENST00000312541.5	37	c.289	CCDS4613.1	6	.	.	.	.	.	.	.	.	.	.	A	15.24	2.774248	0.49786	.	.	ENSG00000112763	ENST00000312541;ENST00000493173;ENST00000541522;ENST00000429381;ENST00000265424;ENST00000469185	T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36	3.01	1.8	0.24995	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.565118	0.16207	N	0.224623	T	0.69708	0.3141	M	0.87381	2.88	0.27160	N	0.96118	D;D	0.89917	0.999;1.0	D;D	0.97110	0.998;1.0	T	0.60151	-0.7319	10	0.62326	D	0.03	.	2.4473	0.04509	0.6299:0.0:0.1315:0.2385	.	97;97	Q96AV7;Q7KYR7	.;BT2A1_HUMAN	P	97;36;36;97;97;97	ENSP00000312158:T97P;ENSP00000420447:T36P;ENSP00000443909:T36P;ENSP00000416945:T97P;ENSP00000419043:T97P	ENSP00000265424:T97P	T	+	1	0	BTN2A1	26567894	0.002000	0.14202	0.824000	0.32777	0.975000	0.68041	1.275000	0.33144	0.524000	0.28502	0.459000	0.35465	ACC	BTN2A1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000112763		0.552	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A1	HGNC	protein_coding	OTTHUMT00000040122.2	255	0.38	1	A	NM_007049		26459915	26459915	+1	no_errors	ENST00000312541	ensembl	human	known	69_37n	missense	188	10.85	23	SNP	0.971	C
C11orf58	10944	genome.wustl.edu	37	11	16776453	16776453	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:16776453A>G	ENST00000228136.4	+	5	732	c.354A>G	c.(352-354)ggA>ggG	p.G118G	C11orf58_ENST00000525684.1_3'UTR|C11orf58_ENST00000422258.2_Silent_p.G74G			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	118	Asp-rich.									NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						ATGTGGCTGGAgatgatgatg	0.398																																						dbGAP											0													71.0	66.0	68.0					11																	16776453		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			BC007103	CCDS7822.1	11p15.1	2012-05-30			ENSG00000110696	ENSG00000110696			16990	protein-coding gene	gene with protein product	"""small acidic protein"""					9263035	Standard	NM_014267		Approved	SMAP	uc001mmk.2	O00193	OTTHUMG00000165910	ENST00000228136.4:c.354A>G	11.37:g.16776453A>G			B2RD28	Silent	SNP	NULL	p.G118	ENST00000228136.4	37	c.354	CCDS7822.1	11																																																																																			C11orf58	-	NULL	ENSG00000110696		0.398	C11orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf58	HGNC	protein_coding	OTTHUMT00000387023.2	101	0.00	0	A	NM_014267		16776453	16776453	+1	no_errors	ENST00000228136	ensembl	human	known	69_37n	silent	119	11.19	15	SNP	1.000	G
C11orf72	100505621	genome.wustl.edu	37	11	67372145	67372145	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:67372145T>G	ENST00000333139.3	-	3	636	c.396A>C	c.(394-396)ccA>ccC	p.P132P	NDUFV1_ENST00000529927.1_5'Flank|C11orf72_ENST00000446232.1_Silent_p.P132P|NDUFV1_ENST00000532303.1_5'Flank|NDUFV1_ENST00000415352.2_5'Flank|NDUFV1_ENST00000322776.6_5'Flank|RP11-655M14.12_ENST00000533876.1_RNA			Q8NBR9	CK072_HUMAN	chromosome 11 open reading frame 72	132										central_nervous_system(1)|lung(2)|stomach(1)	4						gatgtgagggtgggaggcccc	0.493																																						dbGAP											0													64.0	57.0	59.0					11																	67372145		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AK075315		11q13.2	2011-05-24			ENSG00000184224	ENSG00000184224			26915	protein-coding gene	gene with protein product							Standard			Approved	FLJ90834	uc001omi.1	Q8NBR9	OTTHUMG00000156309	ENST00000333139.3:c.396A>C	11.37:g.67372145T>G				Silent	SNP	NULL	p.P132	ENST00000333139.3	37	c.396		11																																																																																			C11orf72	-	NULL	ENSG00000184224		0.493	C11orf72-001	KNOWN	basic|appris_principal	protein_coding	C11orf72	HGNC	protein_coding	OTTHUMT00000343852.2	178	0.55	1	T	NM_173578		67372145	67372145	-1	no_errors	ENST00000333139	ensembl	human	known	69_37n	silent	119	18.49	27	SNP	0.023	G
NTM	50863	genome.wustl.edu	37	11	131530452	131530452	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:131530452T>G	ENST00000374791.3	+	2	411				NTM_ENST00000427481.2_5'Flank|AP003039.3_ENST00000416725.1_lincRNA|NTM_ENST00000539799.1_Intron	NM_001048209.1	NP_001041674.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGAAAAGAGGTGAAAAGCGGC	0.602																																						dbGAP											0													82.0	82.0	82.0					11																	131530452		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374791.3:c.83-251006T>G	11.37:g.131530452T>G			A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	NULL	p.S36	ENST00000374791.3	37	c.108	CCDS41733.1	11																																																																																			C11orf39	-	NULL	ENSG00000255953		0.602	NTM-002	KNOWN	basic|CCDS	protein_coding	C11orf39	HGNC	protein_coding	OTTHUMT00000141936.2	129	0.77	1	T	NM_016522		131530452	131530452	-1	no_errors	ENST00000536853	ensembl	human	known	69_37n	silent	99	13.91	16	SNP	0.000	G
ATP11AUN	400165	genome.wustl.edu	37	13	113333877	113333877	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:113333877G>C	ENST00000356049.1	+	2	942	c.184G>C	c.(184-186)Gac>Cac	p.D62H		NM_207440.1	NP_997323.1	Q6ZP68	ATPUN_HUMAN		62										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			TGCGTCATGGGACCAGCCACA	0.637																																						dbGAP											0													36.0	40.0	39.0					13																	113333877		2199	4300	6499	-	-	-	SO:0001583	missense	0																														ENST00000356049.1:c.184G>C	13.37:g.113333877G>C	ENSP00000348337:p.Asp62His			Missense_Mutation	SNP	NULL	p.D62H	ENST00000356049.1	37	c.184	CCDS9526.1	13	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334078	0.11013	.	.	ENSG00000197595	ENST00000356049	.	.	.	0.879	-0.315	0.12746	.	.	.	.	.	T	0.13072	0.0317	N	0.08118	0	0.09310	N	1	P	0.47484	0.896	B	0.39935	0.314	T	0.13737	-1.0498	8	0.87932	D	0	.	3.9062	0.09183	0.0:0.0:0.5867:0.4133	.	62	Q6ZP68	CM035_HUMAN	H	62	.	ENSP00000348337:D62H	D	+	1	0	C13orf35	112381878	0.002000	0.14202	0.007000	0.13788	0.057000	0.15508	0.302000	0.19192	-0.089000	0.12484	0.297000	0.19635	GAC	C13orf35	-	NULL	ENSG00000197595		0.637	C13orf35-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	C13orf35	HGNC	protein_coding	OTTHUMT00000126522.2	68	0.00	0	G			113333877	113333877	+1	no_errors	ENST00000356049	ensembl	human	putative	69_37n	missense	16	50.00	16	SNP	0.009	C
TMEM253	643382	genome.wustl.edu	37	14	21570264	21570264	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:21570264A>C	ENST00000556585.2	+	4	379	c.261A>C	c.(259-261)gcA>gcC	p.A87A	TMEM253_ENST00000418511.2_Silent_p.A87A|ZNF219_ENST00000451119.2_Intron			P0C7T8	TM253_HUMAN	transmembrane protein 253	87						integral component of membrane (GO:0016021)											TTCGCAGAGCACCCCGCCTTT	0.567																																						dbGAP											0													58.0	61.0	60.0					14																	21570264		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS53884.1	14q11.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000232070	ENSG00000232070			32545	protein-coding gene	gene with protein product			"""non-protein coding RNA 220"", ""chromosome 14 open reading frame 95"", ""chromosome 14 open reading frame 176"""	NCRNA00220, C14orf95, C14orf176			Standard	NM_001146683		Approved		uc010tlo.2	P0C7T8	OTTHUMG00000171361	ENST00000556585.2:c.261A>C	14.37:g.21570264A>C				Silent	SNP	NULL	p.A87	ENST00000556585.2	37	c.261	CCDS53884.1	14																																																																																			C14orf176	-	NULL	ENSG00000232070		0.567	TMEM253-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf176	HGNC	protein_coding	OTTHUMT00000413146.2	149	0.65	1	A	XM_926711		21570264	21570264	+1	no_errors	ENST00000418511	ensembl	human	known	69_37n	silent	86	18.10	19	SNP	0.995	C
TMEM260	54916	genome.wustl.edu	37	14	57075891	57075891	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:57075891A>C	ENST00000261556.6	+	6	826	c.704A>C	c.(703-705)cAc>cCc	p.H235P	TMEM260_ENST00000536419.1_5'UTR|TMEM260_ENST00000538838.1_Missense_Mutation_p.H235P	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	235						integral component of membrane (GO:0016021)											CCCTATGTCCACCTTCCCATC	0.488																																						dbGAP											0													293.0	280.0	284.0					14																	57075891		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.704A>C	14.37:g.57075891A>C	ENSP00000261556:p.His235Pro		A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	pfam_DUF2723	p.H235P	ENST00000261556.6	37	c.704	CCDS9727.2	14	.	.	.	.	.	.	.	.	.	.	A	17.93	3.507992	0.64410	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.44482	1.52;0.92	6.06	6.06	0.98353	.	0.114305	0.64402	D	0.000008	T	0.26666	0.0652	N	0.08118	0	0.80722	D	1	B	0.29955	0.263	B	0.24974	0.057	T	0.10894	-1.0610	10	0.52906	T	0.07	-13.0448	16.6245	0.84952	1.0:0.0:0.0:0.0	.	235	Q9NX78	CN101_HUMAN	P	235	ENSP00000261556:H235P;ENSP00000441934:H235P	ENSP00000261556:H235P	H	+	2	0	C14orf101	56145644	1.000000	0.71417	0.930000	0.37139	0.863000	0.49368	9.209000	0.95087	2.323000	0.78572	0.528000	0.53228	CAC	C14orf101	-	NULL	ENSG00000070269		0.488	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf101	HGNC	protein_coding	OTTHUMT00000276924.1	172	0.00	0	A	NM_017799		57075891	57075891	+1	no_errors	ENST00000261556	ensembl	human	known	69_37n	missense	229	12.88	34	SNP	1.000	C
C14orf37	145407	genome.wustl.edu	37	14	58605064	58605064	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:58605064A>C	ENST00000267485.7	-	2	1207	c.1013T>G	c.(1012-1014)gTg>gGg	p.V338G	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	338						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTCCGTTCTCACCTGAGTCTC	0.542																																						dbGAP											0													152.0	150.0	151.0					14																	58605064		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1013T>G	14.37:g.58605064A>C	ENSP00000267485:p.Val338Gly		A8K8Z8|Q6P5Q1|Q86TY1	Splice_Site	SNP	-	NULL	ENST00000267485.7	37	c.NULL	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	A	1.916	-0.449509	0.04572	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.22539	1.95	5.75	-2.49	0.06403	.	0.815476	0.11023	N	0.608169	T	0.16685	0.0401	M	0.64997	1.995	0.21553	N	0.999643	B;B;B;B	0.17268	0.005;0.021;0.005;0.005	B;B;B;B	0.18263	0.009;0.021;0.009;0.009	T	0.37384	-0.9708	10	0.56958	D	0.05	0.0499	1.1485	0.01780	0.3839:0.2658:0.2218:0.1284	.	376;338;338;338	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	G	338;376	ENSP00000267485:V338G	ENSP00000267485:V338G	V	-	2	0	C14orf37	57674817	0.003000	0.15002	0.208000	0.23602	0.142000	0.21351	0.672000	0.25187	-0.426000	0.07360	-0.333000	0.08304	GTG	C14orf37	-	-	ENSG00000139971		0.542	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	116	0.85	1	A	NM_001001872		58605064	58605064	-1	no_errors	ENST00000557175	ensembl	human	known	69_37n	splice_site	128	11.11	16	SNP	0.074	C
C15orf52	388115	genome.wustl.edu	37	15	40631094	40631094	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:40631094A>C	ENST00000559313.1	-	4	389	c.374T>G	c.(373-375)gTg>gGg	p.V125G	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	125							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CCTGCTAACCACCCGCTTTTC	0.602																																						dbGAP											0													147.0	154.0	151.0					15																	40631094		2074	4216	6290	-	-	-	SO:0001583	missense	0			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.374T>G	15.37:g.40631094A>C	ENSP00000453969:p.Val125Gly		B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	NULL	p.V125G	ENST00000559313.1	37	c.374	CCDS10055.2	15	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121838	0.77436	.	.	ENSG00000188549	ENST00000382688;ENST00000397535	.	.	.	5.05	5.05	0.67936	.	0.244007	0.28671	N	0.014532	T	0.75576	0.3868	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.994;0.997	T	0.77675	-0.2499	9	0.66056	D	0.02	-8.0181	11.1859	0.48655	1.0:0.0:0.0:0.0	.	57;125	Q6ZUT6-3;Q6ZUT6	.;CO052_HUMAN	G	125;57	.	ENSP00000372135:V125G	V	-	2	0	C15orf52	38418386	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.966000	0.63715	1.892000	0.54788	0.460000	0.39030	GTG	C15orf52	-	NULL	ENSG00000188549		0.602	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf52	HGNC	protein_coding	OTTHUMT00000319567.2	205	0.48	1	A	NM_207380		40631094	40631094	-1	no_errors	ENST00000559313	ensembl	human	known	69_37n	missense	214	13.60	34	SNP	1.000	C
C15orf62	643338	genome.wustl.edu	37	15	41063018	41063018	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:41063018A>C	ENST00000344320.6	+	1	860	c.325A>C	c.(325-327)Acc>Ccc	p.T109P	DNAJC17_ENST00000558727.1_5'Flank|DNAJC17_ENST00000220496.4_Intron	NM_001130448.2	NP_001123920.1	A8K5M9	CO062_HUMAN	chromosome 15 open reading frame 62	109						mitochondrion (GO:0005739)											CTACTCTGCCACCCTGCCATC	0.647																																						dbGAP											0													57.0	67.0	64.0					15																	41063018		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS45229.1	15q15.1	2008-08-07			ENSG00000188277	ENSG00000188277			34489	protein-coding gene	gene with protein product							Standard	NM_001130448		Approved	LOC643338	uc010bby.3	A8K5M9		ENST00000344320.6:c.325A>C	15.37:g.41063018A>C	ENSP00000341178:p.Thr109Pro		A6NK01	Missense_Mutation	SNP	NULL	p.T109P	ENST00000344320.6	37	c.325	CCDS45229.1	15	.	.	.	.	.	.	.	.	.	.	A	7.870	0.728038	0.15507	.	.	ENSG00000188277	ENST00000344320	T	0.29917	1.55	5.48	3.12	0.35913	.	0.109289	0.41194	D	0.000929	T	0.19406	0.0466	N	0.19112	0.55	0.28890	N	0.893872	B	0.15930	0.015	B	0.16722	0.016	T	0.13282	-1.0515	10	0.72032	D	0.01	-17.5736	8.4615	0.32931	0.7937:0.1313:0.075:0.0	.	109	A8K5M9	CO062_HUMAN	P	109	ENSP00000341178:T109P	ENSP00000341178:T109P	T	+	1	0	C15orf62	38850310	0.000000	0.05858	0.971000	0.41717	0.053000	0.15095	0.086000	0.14935	0.047000	0.15862	-1.447000	0.01057	ACC	C15orf62	-	NULL	ENSG00000188277		0.647	C15orf62-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf62	HGNC	protein_coding	OTTHUMT00000418995.1	103	0.95	1	A	NM_001130448		41063018	41063018	+1	no_errors	ENST00000344320	ensembl	human	known	69_37n	missense	67	21.18	18	SNP	0.990	C
C16orf90	646174	genome.wustl.edu	37	16	3543956	3543956	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:3543956A>C	ENST00000437192.3	-	3	434	c.432T>G	c.(430-432)ggT>ggG	p.G144G	LA16c-306E5.3_ENST00000574423.2_RNA	NM_001080524.1	NP_001073993.1	A8MZG2	CP090_HUMAN	chromosome 16 open reading frame 90	134										large_intestine(1)	1						GGGGGAGGGCACCCTTGTCTG	0.632																																						dbGAP											0													23.0	25.0	25.0					16																	3543956		1900	4112	6012	-	-	-	SO:0001819	synonymous_variant	0				CCDS45397.1	16p13.3	2009-01-29			ENSG00000215131	ENSG00000215131			34455	protein-coding gene	gene with protein product							Standard	NM_001080524		Approved	LOC646174	uc002cvi.3	A8MZG2	OTTHUMG00000154627	ENST00000437192.3:c.432T>G	16.37:g.3543956A>C				Missense_Mutation	SNP	NULL	p.C153G	ENST00000437192.3	37	c.457	CCDS45397.1	16	.	.	.	.	.	.	.	.	.	.	A	9.345	1.064145	0.20067	.	.	ENSG00000215131	ENST00000399645	.	.	.	5.55	1.87	0.25490	.	.	.	.	.	T	0.51873	0.1700	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36016	-0.9765	4	.	.	.	-10.9506	5.2057	0.15289	0.5516:0.3492:0.0992:0.0	.	.	.	.	G	153	.	.	C	-	1	0	C16orf90	3483957	0.652000	0.27349	0.669000	0.29828	0.897000	0.52465	1.370000	0.34238	0.041000	0.15688	0.533000	0.62120	TGC	C16orf90	-	NULL	ENSG00000215131		0.632	C16orf90-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf90	HGNC	protein_coding	OTTHUMT00000346319.2	60	0.00	0	A	NM_001080524		3543956	3543956	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000399645	ensembl	human	putative	69_37n	missense	80	20.79	21	SNP	0.968	C
C16orf92	146378	genome.wustl.edu	37	16	30035049	30035049	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:30035049A>C	ENST00000300575.2	+	2	153	c.132A>C	c.(130-132)gcA>gcC	p.A44A	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	44						integral component of membrane (GO:0016021)				breast(3)|lung(3)	6						GGGTCCTAGCACCCAGACCCA	0.587																																						dbGAP											0													57.0	58.0	58.0					16																	30035049		2050	4191	6241	-	-	-	SO:0001819	synonymous_variant	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.132A>C	16.37:g.30035049A>C			Q494R8	Missense_Mutation	SNP	NULL	p.T18P	ENST00000300575.2	37	c.52	CCDS42146.1	16																																																																																			C16orf92	-	NULL	ENSG00000167194		0.587	C16orf92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf92	HGNC	protein_coding	OTTHUMT00000435351.1	116	0.00	0	A	NM_001109659		30035049	30035049	+1	no_errors	ENST00000561910	ensembl	human	known	69_37n	missense	87	20.54	23	SNP	0.001	C
LYRM9	201229	genome.wustl.edu	37	17	26207182	26207182	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:26207182T>G	ENST00000379103.3	-	4	508				LYRM9_ENST00000379102.3_Intron|LYRM9_ENST00000508862.1_Missense_Mutation_p.T83P|LYRM9_ENST00000460380.2_3'UTR|RP11-138P22.1_ENST00000581901.1_RNA|RP1-66C13.4_ENST00000582441.1_Intron	NM_001076680.1	NP_001070148.1	A8MSI8	LYRM9_HUMAN	LYR motif containing 9																		AGCTGGCTGGTGGCCTCCTCC	0.567											OREG0024270	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC018092	CCDS45631.1	17q11.2	2014-06-05	2012-10-23	2012-10-23	ENSG00000232859	ENSG00000232859		"""LYR motif containing"""	27314	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 108"""	C17orf108		12477932	Standard	NM_001076680		Approved	HSD24	uc002gzx.3	A8MSI8	OTTHUMG00000132829	ENST00000379103.3:c.219+117A>C	17.37:g.26207182T>G		784	A6NJT7|Q6X7B8	Missense_Mutation	SNP	NULL	p.T83P	ENST00000379103.3	37	c.247	CCDS45631.1	17																																																																																			C17orf108	-	NULL	ENSG00000232859		0.567	LYRM9-001	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	C17orf108	HGNC	protein_coding	OTTHUMT00000256294.3	85	0.00	0	T	NM_001076680		26207182	26207182	-1	no_errors	ENST00000508862	ensembl	human	novel	69_37n	missense	54	16.92	11	SNP	0.000	G
PRR29	92340	genome.wustl.edu	37	17	62078597	62078597	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:62078597A>C	ENST00000412177.1	+	4	411	c.397A>C	c.(397-399)Acc>Ccc	p.T133P	C17orf72_ENST00000582540.1_Missense_Mutation_p.T82P|C17orf72_ENST00000579184.1_Missense_Mutation_p.T126P|ICAM2_ENST00000581417.1_5'Flank|C17orf72_ENST00000580752.1_Intron|RP11-214C8.2_ENST00000580942.1_lincRNA|C17orf72_ENST00000539996.1_Missense_Mutation_p.T83P|C17orf72_ENST00000425164.3_Missense_Mutation_p.T133P|C17orf72_ENST00000577953.1_Intron	NM_001164257.1|NM_001191030.1	NP_001157729.1|NP_001177959.1	P0C7W0	PRR29_HUMAN		133	Pro-rich.																CTTCTTCCCCACCCCTGCTTG	0.627																																						dbGAP											0													93.0	102.0	99.0					17																	62078597		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000412177.1:c.397A>C	17.37:g.62078597A>C	ENSP00000400986:p.Thr133Pro		B3KMP0|B4DZJ9|B4E2F8|E9PGL5|J3QKX4	Missense_Mutation	SNP	NULL	p.T133P	ENST00000412177.1	37	c.397	CCDS54158.1	17	.	.	.	.	.	.	.	.	.	.	A	7.034	0.561165	0.13498	.	.	ENSG00000224383	ENST00000425164;ENST00000412177;ENST00000539996	T;T	0.47869	0.83;0.89	4.48	-7.39	0.01402	.	.	.	.	.	T	0.12135	0.0295	N	0.01048	-1.04	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.001	T	0.13019	-1.0525	9	0.33940	T	0.23	-5.2098	0.234	0.00184	0.2284:0.2039:0.2434:0.3243	.	133;126;83;133	E9PGL5;B4E2F8;B4DG13;P0C7W0	.;.;.;CQ072_HUMAN	P	133;133;83	ENSP00000396936:T133P;ENSP00000400986:T133P	ENSP00000400986:T133P	T	+	1	0	C17orf72	59432329	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.579000	0.00907	-1.044000	0.03254	-1.314000	0.01303	ACC	C17orf72	-	NULL	ENSG00000224383		0.627	C17orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf72	HGNC	protein_coding	OTTHUMT00000442613.1	123	0.00	0	A			62078597	62078597	+1	no_errors	ENST00000425164	ensembl	human	known	69_37n	missense	102	18.25	23	SNP	0.000	C
C19orf57	79173	genome.wustl.edu	37	19	14001111	14001111	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:14001111A>C	ENST00000586783.1	-	5	557	c.558T>G	c.(556-558)agT>agG	p.S186R	C19orf57_ENST00000346736.2_Missense_Mutation_p.S186R|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Missense_Mutation_p.S186R			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	186					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAGAATCCCCACTGCCGGGCA	0.677																																						dbGAP											0													59.0	58.0	58.0					19																	14001111		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.558T>G	19.37:g.14001111A>C	ENSP00000465822:p.Ser186Arg		Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	NULL	p.S186R	ENST00000586783.1	37	c.558		19	.	.	.	.	.	.	.	.	.	.	A	12.13	1.845012	0.32606	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.29142	1.58;1.58	2.77	-1.29	0.09288	.	1.259700	0.05805	N	0.612938	T	0.18215	0.0437	L	0.27053	0.805	0.09310	N	1	B;B	0.33044	0.041;0.395	B;B	0.27076	0.017;0.076	T	0.20240	-1.0281	10	0.46703	T	0.11	6.1423	4.6834	0.12747	0.3221:0.5348:0.1431:0.0	.	186;186	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	R	186	ENSP00000404382:S186R;ENSP00000254336:S186R	ENSP00000254336:S186R	S	-	3	2	C19orf57	13862111	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.051000	0.11885	-0.337000	0.08426	0.402000	0.26972	AGT	C19orf57	-	NULL	ENSG00000132016		0.677	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	63	0.00	0	A	NM_024323		14001111	14001111	-1	no_errors	ENST00000454313	ensembl	human	known	69_37n	missense	73	15.12	13	SNP	0.001	C
C1orf85	112770	genome.wustl.edu	37	1	156264657	156264657	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:156264657T>G	ENST00000362007.1	-	2	297	c.271A>C	c.(271-273)Acc>Ccc	p.T91P	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	91					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					ACGCTCAGGGTGCTGTGGGGG	0.582																																						dbGAP											0													87.0	94.0	92.0					1																	156264657		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.271A>C	1.37:g.156264657T>G	ENSP00000354553:p.Thr91Pro		A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP	NULL	p.T91P	ENST00000362007.1	37	c.271	CCDS1139.1	1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.882319	0.33255	.	.	ENSG00000198715	ENST00000362007	T	0.23552	1.9	5.03	-5.15	0.02866	.	2.366740	0.01689	N	0.026586	T	0.07548	0.0190	L	0.60455	1.87	0.09310	N	0.999994	B	0.27068	0.167	B	0.25405	0.06	T	0.16276	-1.0408	10	0.33141	T	0.24	0.05	3.278	0.06906	0.2188:0.4604:0.2189:0.102	.	91	Q8WWB7	NCUG1_HUMAN	P	91	ENSP00000354553:T91P	ENSP00000354553:T91P	T	-	1	0	C1orf85	154531281	0.000000	0.05858	0.016000	0.15963	0.987000	0.75469	-1.245000	0.02899	-1.303000	0.02332	0.459000	0.35465	ACC	C1orf85	-	NULL	ENSG00000198715		0.582	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf85	HGNC	protein_coding	OTTHUMT00000052108.1	137	0.00	0	T	NM_144580		156264657	156264657	-1	no_errors	ENST00000362007	ensembl	human	known	69_37n	missense	124	16.00	24	SNP	0.003	G
C1orf106	55765	genome.wustl.edu	37	1	200867526	200867526	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:200867526A>C	ENST00000367342.4	+	2	453	c.253A>C	c.(253-255)Acc>Ccc	p.T85P	C1orf106_ENST00000413687.2_5'UTR	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	85										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCAGAAATCCACCATGGAGAG	0.582																																						dbGAP											0													134.0	122.0	126.0					1																	200867526		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.253A>C	1.37:g.200867526A>C	ENSP00000356311:p.Thr85Pro		B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Missense_Mutation	SNP	pfam_DUF3338	p.T85P	ENST00000367342.4	37	c.253		1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.136646	0.77662	.	.	ENSG00000163362	ENST00000367342	T	0.49139	0.79	4.97	-0.249	0.13011	.	0.231862	0.33610	N	0.004739	T	0.24353	0.0590	N	0.24115	0.695	0.37599	D	0.920489	P	0.37864	0.61	B	0.32465	0.146	T	0.05099	-1.0906	10	0.49607	T	0.09	-22.2408	4.244	0.10663	0.488:0.0:0.3569:0.1551	.	85	Q3KP66	CA106_HUMAN	P	85	ENSP00000356311:T85P	ENSP00000356311:T85P	T	+	1	0	C1orf106	199134149	0.000000	0.05858	0.161000	0.22692	0.929000	0.56500	-0.436000	0.06922	-0.313000	0.08728	-0.326000	0.08463	ACC	C1orf106	-	NULL	ENSG00000163362		0.582	C1orf106-001	KNOWN	basic	protein_coding	C1orf106	HGNC	protein_coding	OTTHUMT00000087057.2	77	0.00	0	A	NM_018265		200867526	200867526	+1	no_errors	ENST00000367342	ensembl	human	known	69_37n	missense	244	11.87	33	SNP	0.159	C
SCP2D1	140856	genome.wustl.edu	37	20	18794549	18794549	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:18794549A>C	ENST00000377428.2	+	1	180	c.90A>C	c.(88-90)gaA>gaC	p.E30D	C20orf78_ENST00000463425.1_5'Flank|C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1	Q9UJQ7	SCP2D_HUMAN	SCP2 sterol-binding domain containing 1	30																	CAGTTCCAGAACCTGCCATGC	0.507																																						dbGAP											0													87.0	82.0	84.0					20																	18794549		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL035563	CCDS13139.1	20p11.23	2012-10-29	2012-10-29	2012-10-29	ENSG00000132631	ENSG00000132631			16211	protein-coding gene	gene with protein product	"""sterol carrier protein 2-like protein"""		"""chromosome 20 open reading frame 79"""	C20orf79		16501878	Standard	NM_178483		Approved	dJ1068E13.2, HSD22	uc002wrk.3	Q9UJQ7	OTTHUMG00000031983	ENST00000377428.2:c.90A>C	20.37:g.18794549A>C	ENSP00000366645:p.Glu30Asp		Q548A4	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	p.E30D	ENST00000377428.2	37	c.90	CCDS13139.1	20	.	.	.	.	.	.	.	.	.	.	A	4.140	0.024402	0.08054	.	.	ENSG00000132631	ENST00000377428	T	0.24350	1.86	5.79	-6.22	0.02058	.	0.710228	0.13208	N	0.405361	T	0.10252	0.0251	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30563	-0.9974	10	0.17832	T	0.49	-4.0794	5.3631	0.16099	0.2061:0.1229:0.5381:0.1329	.	30	Q9UJQ7	CT079_HUMAN	D	30	ENSP00000366645:E30D	ENSP00000366645:E30D	E	+	3	2	C20orf79	18742549	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.828000	0.04419	-0.692000	0.05128	0.338000	0.21704	GAA	C20orf79	-	NULL	ENSG00000132631		0.507	SCP2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf79	HGNC	protein_coding	OTTHUMT00000078193.1	168	0.59	1	A	NM_178483		18794549	18794549	+1	no_errors	ENST00000377428	ensembl	human	known	69_37n	missense	98	22.22	28	SNP	0.000	C
C21orf59	56683	genome.wustl.edu	37	21	33975560	33975560	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:33975560A>C	ENST00000290155.3	-	5	1199	c.577T>G	c.(577-579)Tgg>Ggg	p.W193G	C21orf59_ENST00000540881.1_Missense_Mutation_p.W137G|C21orf59_ENST00000382549.4_Missense_Mutation_p.W193G|AP000275.65_ENST00000553001.1_Missense_Mutation_p.W193G	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	193						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TTGGCTGCCCACCACAGCTGC	0.517																																						dbGAP											0													117.0	104.0	109.0					21																	33975560		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"""chromosome 21 open reading frame 48"""	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.577T>G	21.37:g.33975560A>C	ENSP00000290155:p.Trp193Gly		Q53FH0	Missense_Mutation	SNP	pfam_DUF2870	p.W193G	ENST00000290155.3	37	c.577	CCDS13617.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.0|23.0	4.364681|4.364681	0.82463|0.82463	.|.	.|.	ENSG00000159079|ENSG00000159079	ENST00000425336|ENST00000553001;ENST00000440966;ENST00000382549;ENST00000290155;ENST00000543202;ENST00000540881;ENST00000458138	.|.	.|.	.|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84415|0.84415	0.5467|0.5467	M|M	0.90650|0.90650	3.135|3.135	0.80722|0.80722	D|D	1|1	.|D;P;P;P;D;D;D	.|0.76494	.|0.992;0.734;0.933;0.933;0.98;0.999;0.984	.|P;P;P;P;P;D;P	.|0.70935	.|0.811;0.587;0.784;0.827;0.833;0.971;0.874	D|D	0.88036|0.88036	0.2778|0.2778	5|9	.|0.87932	.|D	.|0	-38.5235|-38.5235	15.5087|15.5087	0.75764|0.75764	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|137;193;193;193;193;74;193	.|F5GXV2;Q53FH0;C9J818;P57076;D3DSE6;Q8N9H5;Q96NJ2	.|.;.;.;CU059_HUMAN;.;.;.	G|G	40|193;193;193;193;193;137;176	.|.	.|ENSP00000290155:W193G	V|W	-|-	2|1	0|0	C21orf59|C21orf59	32897431|32897431	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	9.220000|9.220000	0.95180|0.95180	2.118000|2.118000	0.64928|0.64928	0.460000|0.460000	0.39030|0.39030	GTG|TGG	C21orf59	-	pfam_DUF2870	ENSG00000159079		0.517	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf59	HGNC	protein_coding	OTTHUMT00000139431.1	144	0.00	0	A	NM_021254		33975560	33975560	-1	no_errors	ENST00000290155	ensembl	human	known	69_37n	missense	191	12.39	27	SNP	1.000	C
RTCB	51493	genome.wustl.edu	37	22	32793942	32793942	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:32793942T>G	ENST00000216038.5	-	7	898	c.800A>C	c.(799-801)cAc>cCc	p.H267P	RTCB_ENST00000451746.2_Intron|RTCB_ENST00000476619.1_5'Flank	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		GGCTACTTGGTGGCCCAAGCC	0.413																																						dbGAP											0													124.0	99.0	108.0					22																	32793942		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.800A>C	22.37:g.32793942T>G	ENSP00000216038:p.His267Pro			Missense_Mutation	SNP	pfam_RtcB_family,superfamily_RtcB_family	p.H267P	ENST00000216038.5	37	c.800	CCDS13905.1	22	.	.	.	.	.	.	.	.	.	.	T	25.9	4.689086	0.88735	.	.	ENSG00000100220	ENST00000216038	T	0.33216	1.42	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.77856	-0.2432	10	0.87932	D	0	-24.1678	16.6245	0.84952	0.0:0.0:0.0:1.0	.	267	Q9Y3I0	RTCB_HUMAN	P	267	ENSP00000216038:H267P	ENSP00000216038:H267P	H	-	2	0	C22orf28	31123942	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.000000	0.88501	2.323000	0.78572	0.528000	0.53228	CAC	C22orf28	-	pfam_RtcB_family,superfamily_RtcB_family	ENSG00000100220		0.413	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf28	HGNC	protein_coding	OTTHUMT00000075188.3	166	0.60	1	T	NM_014306		32793942	32793942	-1	no_errors	ENST00000216038	ensembl	human	known	69_37n	missense	145	14.62	25	SNP	1.000	G
C2CD2L	9854	genome.wustl.edu	37	11	118984906	118984906	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:118984906A>C	ENST00000528586.1	+	9	1054	c.984A>C	c.(982-984)ccA>ccC	p.P328P	C2CD2L_ENST00000336702.3_Silent_p.P581P			O14523	C2C2L_HUMAN	C2CD2-like	580						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCAGACCCACCAGCCATGT	0.597																																						dbGAP											0													134.0	132.0	133.0					11																	118984906		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.984A>C	11.37:g.118984906A>C			Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.P581	ENST00000528586.1	37	c.1743		11																																																																																			C2CD2L	-	NULL	ENSG00000172375		0.597	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	C2CD2L	HGNC	protein_coding	OTTHUMT00000388199.2	103	0.00	0	A	NM_014807		118984906	118984906	+1	no_errors	ENST00000336702	ensembl	human	known	69_37n	silent	60	20.78	16	SNP	0.656	C
NDUFAF7	55471	genome.wustl.edu	37	2	37464936	37464936	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:37464936A>C	ENST00000002125.4	+	4	374	c.334A>C	c.(334-336)Act>Cct	p.T112P	NDUFAF7_ENST00000336237.6_Missense_Mutation_p.T85P|NDUFAF7_ENST00000483999.1_3'UTR	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	112					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										ATGGATGGCCACTGGAAAAAG	0.388																																						dbGAP											0													51.0	61.0	58.0					2																	37464936		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.334A>C	2.37:g.37464936A>C	ENSP00000002125:p.Thr112Pro		Q7Z399|Q9P1G3	Missense_Mutation	SNP	pfam_MidA	p.T112P	ENST00000002125.4	37	c.334	CCDS1788.1	2	.	.	.	.	.	.	.	.	.	.	A	14.94	2.684694	0.47991	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000416653;ENST00000439218;ENST00000432075	T;T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09;-1.09	5.84	-7.99	0.01131	.	0.565832	0.19955	N	0.102330	T	0.67636	0.2914	L	0.57536	1.79	0.09310	N	1	P;P;P;P	0.42556	0.783;0.523;0.467;0.783	B;B;B;B	0.43916	0.436;0.287;0.189;0.436	T	0.63359	-0.6655	10	0.36615	T	0.2	-3.6943	8.464	0.32944	0.2526:0.0:0.4954:0.252	.	85;112;85;112	E7EUC2;B4DQY3;Q7L592-2;Q7L592	.;.;.;MIDA_HUMAN	P	112;85;33;70;70;70	ENSP00000002125:T112P;ENSP00000337431:T85P;ENSP00000399207:T33P;ENSP00000410181:T70P;ENSP00000394436:T70P;ENSP00000402959:T70P	ENSP00000002125:T112P	T	+	1	0	C2orf56	37318440	0.000000	0.05858	0.510000	0.27712	0.996000	0.88848	-0.382000	0.07408	-0.976000	0.03542	0.533000	0.62120	ACT	C2orf56	-	pfam_MidA	ENSG00000003509		0.388	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf56	HGNC	protein_coding	OTTHUMT00000250267.1	193	0.52	1	A	NM_144736		37464936	37464936	+1	no_errors	ENST00000002125	ensembl	human	known	69_37n	missense	106	15.08	19	SNP	0.029	C
M1AP	130951	genome.wustl.edu	37	2	74785657	74785657	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:74785657T>G	ENST00000290536.5	-	0	1895				M1AP_ENST00000536235.1_3'UTR|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000409585.1_3'UTR	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein						cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CAGGCTCGGGTGTGTCGCTTC	0.488																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.*186A>C	2.37:g.74785657T>G			B7Z6E7|E9PGG8|Q6ZP30|Q96L07	RNA	SNP	-	NULL	ENST00000290536.5	37	NULL	CCDS33229.1	2																																																																																			C2orf65	-	-	ENSG00000159374		0.488	M1AP-001	KNOWN	basic|CCDS	protein_coding	C2orf65	HGNC	protein_coding	OTTHUMT00000328569.1	26	0.00	0	T	NM_138804		74785657	74785657	-1	no_errors	ENST00000464686	ensembl	human	known	69_37n	rna	11	50.00	11	SNP	0.000	G
C3orf20	84077	genome.wustl.edu	37	3	14746010	14746010	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:14746010A>C	ENST00000253697.3	+	7	1497	c.1045A>C	c.(1045-1047)Acc>Ccc	p.T349P	C3orf20_ENST00000435614.1_Missense_Mutation_p.T227P|C3orf20_ENST00000412910.1_Missense_Mutation_p.T227P|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	349						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCTCAGCCCCACCTCTCACCC	0.522																																						dbGAP											0													215.0	214.0	214.0					3																	14746010		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1045A>C	3.37:g.14746010A>C	ENSP00000253697:p.Thr349Pro		Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	NULL	p.T349P	ENST00000253697.3	37	c.1045	CCDS33706.1	3	.	.	.	.	.	.	.	.	.	.	A	15.75	2.924449	0.52653	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.10099	3.2;2.91;2.91	5.04	-7.12	0.01537	.	1.723780	0.03173	N	0.170974	T	0.08313	0.0207	L	0.27053	0.805	0.09310	N	1	P	0.43094	0.799	P	0.44990	0.466	T	0.21143	-1.0254	10	0.37606	T	0.19	-0.4699	4.1778	0.10360	0.2636:0.129:0.4811:0.1263	.	349	Q8ND61	CC020_HUMAN	P	349;227;227	ENSP00000253697:T349P;ENSP00000402933:T227P;ENSP00000396081:T227P	ENSP00000253697:T349P	T	+	1	0	C3orf20	14721014	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.451000	0.02387	-1.517000	0.01780	0.477000	0.44152	ACC	C3orf20	-	NULL	ENSG00000131379		0.522	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	120	0.82	1	A	NM_032137		14746010	14746010	+1	no_errors	ENST00000253697	ensembl	human	known	69_37n	missense	154	10.92	19	SNP	0.000	C
SMIM4	440957	genome.wustl.edu	37	3	52570791	52570791	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:52570791T>G	ENST00000477703.1	+	1	171	c.20T>G	c.(19-21)gTg>gGg	p.V7G	NT5DC2_ENST00000459839.1_5'Flank|NT5DC2_ENST00000422318.2_5'Flank|SMIM4_ENST00000476842.1_Missense_Mutation_p.V7G|NT5DC2_ENST00000307092.4_5'Flank|NT5DC2_ENST00000307076.4_5'Flank|SMIM4_ENST00000482728.1_Intron|SMIM4_ENST00000307106.3_Splice_Site	NM_001124767.1	NP_001118239.1	Q8WVI0	SMIM4_HUMAN	small integral membrane protein 4	7						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											AGGGCCCAGGTGAGACGGATT	0.612																																						dbGAP											0													98.0	108.0	105.0					3																	52570791		692	1591	2283	-	-	-	SO:0001583	missense	0			AK095910	CCDS46844.1	3p21.1	2012-10-08	2012-10-08	2012-10-08	ENSG00000168273	ENSG00000168273			37257	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 78"""	C3orf78			Standard	NM_001124767		Approved		uc003dep.2	Q8WVI0	OTTHUMG00000158726	ENST00000477703.1:c.20T>G	3.37:g.52570791T>G	ENSP00000417806:p.Val7Gly			Splice_Site	SNP	-	e1+2	ENST00000477703.1	37	c.18+2	CCDS46844.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.1|22.1	4.251071|4.251071	0.80135|0.80135	.|.	.|.	ENSG00000168273|ENSG00000168273	ENST00000307106|ENST00000477703;ENST00000476842	.|.	.|.	.|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.266734	.|0.31531	.|N	.|0.007486	.|T	.|0.66655	.|0.2811	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.38048	.|0.616	.|P	.|0.44647	.|0.456	.|T	.|0.70212	.|-0.4934	.|8	.|0.87932	.|D	.|0	.|-12.2594	14.6764|14.6764	0.68983|0.68983	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|7	.|Q8WVI0	.|CC078_HUMAN	.|G	-1|7	.|.	.|ENSP00000418000:V7G	.|V	+|+	.|2	.|0	C3orf78|C3orf78	52545831|52545831	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.730000|0.730000	0.41778|0.41778	3.071000|3.071000	0.50041|0.50041	2.211000|2.211000	0.71520|0.71520	0.459000|0.459000	0.35465|0.35465	.|GTG	C3orf78	-	-	ENSG00000168273		0.612	SMIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf78	HGNC	protein_coding	OTTHUMT00000351920.1	199	0.98	2	T	NM_001124767		52570791	52570791	+1	no_errors	ENST00000307106	ensembl	human	putative	69_37n	splice_site	162	12.23	23	SNP	1.000	G
C5orf56	441108	genome.wustl.edu	37	5	131755622	131755622	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:131755622A>C	ENST00000337752.2	+	2	169	c.38A>C	c.(37-39)cAc>cCc	p.H13P	C5orf56_ENST00000407797.1_Missense_Mutation_p.H13P|C5orf56_ENST00000378953.4_Missense_Mutation_p.H13P|C5orf56_ENST00000378947.3_Missense_Mutation_p.H13P|AC116366.5_ENST00000454380.1_RNA			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	13										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AATGCCAGCCACCAGCCATGG	0.507											OREG0016768	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													63.0	76.0	72.0					5																	131755622		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000337752.2:c.38A>C	5.37:g.131755622A>C	ENSP00000338228:p.His13Pro	1590	A1L3V9|A6NKA0	Missense_Mutation	SNP	NULL	p.H13P	ENST00000337752.2	37	c.38		5	.	.	.	.	.	.	.	.	.	.	A	8.484	0.860489	0.17178	.	.	ENSG00000197536	ENST00000378953;ENST00000337752;ENST00000378947;ENST00000407797	.	.	.	4.8	-9.6	0.00553	.	.	.	.	.	T	0.22704	0.0548	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.002	T	0.35871	-0.9771	7	0.87932	D	0	.	4.0658	0.09859	0.1946:0.2206:0.4603:0.1245	.	13;13	Q8N8D9-2;Q8N8D9	.;CE056_HUMAN	P	13	.	ENSP00000338228:H13P	H	+	2	0	C5orf56	131783521	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	-1.368000	0.02580	-1.697000	0.01420	-0.378000	0.06908	CAC	C5orf56	-	NULL	ENSG00000197536		0.507	C5orf56-001	NOVEL	basic|appris_candidate_longest	protein_coding	C5orf56	HGNC	protein_coding	OTTHUMT00000132329.1	264	0.00	0	A	NM_001013717		131755622	131755622	+1	no_errors	ENST00000407797	ensembl	human	putative	69_37n	missense	142	12.27	20	SNP	0.000	C
FAXDC2	10826	genome.wustl.edu	37	5	154200868	154200868	+	Missense_Mutation	SNP	T	T	G	rs35592087		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:154200868T>G	ENST00000326080.5	-	8	1220	c.797A>C	c.(796-798)cAc>cCc	p.H266P	FAXDC2_ENST00000523997.1_5'Flank|FAXDC2_ENST00000517938.1_Missense_Mutation_p.H243P	NM_032385.3	NP_115761.2	Q96IV6	FXDC2_HUMAN	fatty acid hydroxylase domain containing 2	266					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)										GAAGGGAAGGTGGTAGCCACA	0.547																																						dbGAP											0													209.0	217.0	214.0					5																	154200868		2124	4230	6354	-	-	-	SO:0001583	missense	0			AF159165	CCDS43390.1	5q31-q32	2013-03-04	2013-03-04	2013-03-04	ENSG00000170271	ENSG00000170271		"""Fatty acid hydroxylase domain containing"""	1334	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 4"""	C5orf4		10843801	Standard	NM_032385		Approved	FLJ13758	uc003lvs.4	Q96IV6	OTTHUMG00000164141	ENST00000326080.5:c.797A>C	5.37:g.154200868T>G	ENSP00000320604:p.His266Pro		B4DIE1|Q9BSX6|Q9H8C7	Missense_Mutation	SNP	pfam_Fatty_acid_hydroxylase	p.H266P	ENST00000326080.5	37	c.797	CCDS43390.1	5	.	.	.	.	.	.	.	.	.	.	T	24.3	4.513122	0.85389	.	.	ENSG00000170271	ENST00000326080;ENST00000517938	D;D	0.84146	-1.81;-1.81	5.12	5.12	0.69794	Fatty acid hydroxylase (1);	0.000000	0.85682	D	0.000000	D	0.93321	0.7871	M	0.89785	3.06	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	D	0.94521	0.7727	10	0.66056	D	0.02	.	14.9553	0.71107	0.0:0.0:0.0:1.0	.	266	Q96IV6	CE004_HUMAN	P	266;243	ENSP00000320604:H266P;ENSP00000430286:H243P	ENSP00000320604:H266P	H	-	2	0	C5orf4	154181061	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.942000	0.70203	1.929000	0.55896	0.533000	0.62120	CAC	C5orf4	-	pfam_Fatty_acid_hydroxylase	ENSG00000170271		0.547	FAXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf4	HGNC	protein_coding	OTTHUMT00000377429.1	357	0.00	0	T	NM_032385		154200868	154200868	-1	no_errors	ENST00000326080	ensembl	human	known	69_37n	missense	286	17.43	61	SNP	1.000	G
SIMC1	375484	genome.wustl.edu	37	5	175751676	175751676	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:175751676T>G	ENST00000443967.1	+	9	2437	c.2030T>G	c.(2029-2031)gTg>gGg	p.V677G	SIMC1_ENST00000341199.6_Missense_Mutation_p.V262G|SIMC1_ENST00000332772.4_Missense_Mutation_p.V138G|SIMC1_ENST00000430704.2_Missense_Mutation_p.V262G			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	677							SUMO polymer binding (GO:0032184)										GCCGTAGAGGTGGACAGGACC	0.522																																						dbGAP											0													94.0	86.0	89.0					5																	175751676		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.2030T>G	5.37:g.175751676T>G	ENSP00000406571:p.Val677Gly		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.V677G	ENST00000443967.1	37	c.2030		5	.	.	.	.	.	.	.	.	.	.	T	20.8	4.056626	0.76074	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000332772	T;T;T;T	0.56444	1.03;1.03;1.31;0.46	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000004	T	0.67183	0.2866	L	0.54323	1.7	0.80722	D	1	D;P;D	0.89917	1.0;0.801;1.0	D;P;D	0.83275	0.996;0.587;0.996	T	0.69967	-0.5001	10	0.87932	D	0	-8.9667	12.9504	0.58397	0.0:0.0:0.0:1.0	.	138;262;677	Q8NDZ2-4;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	G	262;262;677;138	ENSP00000342075:V262G;ENSP00000409287:V262G;ENSP00000406571:V677G;ENSP00000331311:V138G	ENSP00000331311:V138G	V	+	2	0	C5orf25	175684282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.872000	0.63050	2.247000	0.74100	0.482000	0.46254	GTG	C5orf25	-	NULL	ENSG00000170085		0.522	SIMC1-001	KNOWN	basic	protein_coding	C5orf25	HGNC	protein_coding	OTTHUMT00000253155.2	314	0.63	2	T	NM_198567		175751676	175751676	+1	no_errors	ENST00000443967	ensembl	human	known	69_37n	missense	202	12.82	30	SNP	1.000	G
C6orf222	389384	genome.wustl.edu	37	6	36294354	36294354	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:36294354T>G	ENST00000437635.2	-	5	1146	c.969A>C	c.(967-969)ccA>ccC	p.P323P		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	323										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						ACTTCTTGGGTGGCCAGGCCT	0.582																																						dbGAP											0													106.0	109.0	108.0					6																	36294354		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34439.1	6p21.31	2012-02-22			ENSG00000189325	ENSG00000189325			33769	protein-coding gene	gene with protein product							Standard	NM_001010903		Approved	DKFZp779B1540	uc003oly.3	P0C671	OTTHUMG00000014591	ENST00000437635.2:c.969A>C	6.37:g.36294354T>G			B2RTY8	Silent	SNP	NULL	p.P323	ENST00000437635.2	37	c.969	CCDS34439.1	6																																																																																			C6orf222	-	NULL	ENSG00000189325		0.582	C6orf222-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf222	HGNC	protein_coding	OTTHUMT00000040338.2	168	0.58	1	T	NM_001010903		36294354	36294354	-1	no_errors	ENST00000437635	ensembl	human	known	69_37n	silent	212	13.47	33	SNP	0.006	G
C6orf89	221477	genome.wustl.edu	37	6	36882204	36882204	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:36882204T>G	ENST00000480824.2	+	5	842	c.548T>G	c.(547-549)gTg>gGg	p.V183G	C6orf89_ENST00000355190.3_Missense_Mutation_p.V190G|C6orf89_ENST00000359359.2_Missense_Mutation_p.V77G|C6orf89_ENST00000510325.2_Missense_Mutation_p.V77G|C6orf89_ENST00000373685.1_Missense_Mutation_p.V183G			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	183					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CATCCACTGGTGATCAAGGTG	0.517																																						dbGAP											0													74.0	80.0	78.0					6																	36882204		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.548T>G	6.37:g.36882204T>G	ENSP00000475947:p.Val183Gly		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	NULL	p.V190G	ENST00000480824.2	37	c.569		6	.	.	.	.	.	.	.	.	.	.	T	15.50	2.851272	0.51270	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685;ENST00000416621;ENST00000540072	.	.	.	5.44	5.44	0.79542	.	0.160501	0.42053	D	0.000778	T	0.33673	0.0871	L	0.43152	1.355	0.58432	D	0.999998	B;B	0.33583	0.279;0.418	B;B	0.27796	0.058;0.083	T	0.45833	-0.9234	9	0.72032	D	0.01	-7.0357	11.8969	0.52661	0.0:0.0:0.0:1.0	.	183;190	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	G	77;77;190;183;190;189	.	ENSP00000347322:V190G	V	+	2	0	C6orf89	36990182	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.776000	0.55356	2.066000	0.61787	0.533000	0.62120	GTG	C6orf89	-	NULL	ENSG00000198663		0.517	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	HGNC	protein_coding	OTTHUMT00000040387.2	152	0.00	0	T	NM_152734		36882204	36882204	+1	no_errors	ENST00000355190	ensembl	human	known	69_37n	missense	86	13.13	13	SNP	1.000	G
KEL	3792	genome.wustl.edu	37	7	142637571	142637571	+	IGR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:142637571A>C	ENST00000355265.2	-	0	2812				C7orf34_ENST00000409607.3_Missense_Mutation_p.H114P	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase						vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CACTCTTTCCACCTCAGCTTC	0.547																																						dbGAP											0													240.0	214.0	223.0					7																	142637571		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159		7.37:g.142637571A>C			B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	NULL	p.H114P	ENST00000355265.2	37	c.341	CCDS34766.1	7	.	.	.	.	.	.	.	.	.	.	a	7.454	0.643238	0.14451	.	.	ENSG00000165131	ENST00000409607	.	.	.	4.38	4.38	0.52667	.	0.506389	0.18096	N	0.151849	T	0.18045	0.0433	N	0.22421	0.69	0.09310	N	0.999997	P	0.45176	0.852	B	0.35727	0.209	T	0.09422	-1.0675	9	0.42905	T	0.14	-24.493	10.1679	0.42890	1.0:0.0:0.0:0.0	.	89	Q96L11	CG034_HUMAN	P	114	.	ENSP00000386450:H114P	H	+	2	0	C7orf34	142347693	0.624000	0.27102	0.128000	0.21923	0.003000	0.03518	2.896000	0.48656	1.968000	0.57251	0.454000	0.30748	CAC	C7orf34	-	NULL	ENSG00000165131		0.547	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf34	HGNC	protein_coding	OTTHUMT00000347671.2	219	0.00	0	A	NM_000420		142637571	142637571	+1	no_errors	ENST00000409607	ensembl	human	known	69_37n	missense	205	10.39	24	SNP	0.448	C
C9orf142	286257	genome.wustl.edu	37	9	139888233	139888233	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:139888233T>G	ENST00000371620.3	+	7	617	c.591T>G	c.(589-591)ggT>ggG	p.G197G	C9orf142_ENST00000493968.1_3'UTR|CLIC3_ENST00000480181.1_5'Flank	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142	197						extracellular vesicular exosome (GO:0070062)						all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AACCAGCTGGTGGCGTGGACT	0.617																																						dbGAP											0													113.0	89.0	97.0					9																	139888233		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			BC002613	CCDS7020.1	9q34.3	2008-02-05			ENSG00000148362	ENSG00000148362			27849	protein-coding gene	gene with protein product							Standard	NM_183241		Approved		uc004cki.3	Q9BUH6	OTTHUMG00000020971	ENST00000371620.3:c.591T>G	9.37:g.139888233T>G			Q8IY19	Silent	SNP	NULL	p.G197	ENST00000371620.3	37	c.591	CCDS7020.1	9																																																																																			C9orf142	-	NULL	ENSG00000148362		0.617	C9orf142-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf142	HGNC	protein_coding	OTTHUMT00000055255.1	132	0.00	0	T	NM_183241		139888233	139888233	+1	no_errors	ENST00000371620	ensembl	human	known	69_37n	silent	132	13.07	20	SNP	0.569	G
C9orf3	84909	genome.wustl.edu	37	9	97844865	97844865	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:97844865T>G	ENST00000375315.2	+	15	2328	c.2328T>G	c.(2326-2328)ggT>ggG	p.G776G	C9orf3_ENST00000425634.2_Silent_p.G138G|C9orf3_ENST00000297979.5_Silent_p.G677G|MIR27B_ENST00000385129.1_RNA|MIR23B_ENST00000384832.1_RNA|C9orf3_ENST00000433691.2_Silent_p.G117G	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	776					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGGCCATGGGTGTGTACCTCT	0.602																																						dbGAP											0													95.0	72.0	80.0					9																	97844865		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2328T>G	9.37:g.97844865T>G			Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.C141G	ENST00000375315.2	37	c.421	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	T	7.566	0.665660	0.14710	.	.	ENSG00000148120	ENST00000445181	.	.	.	5.33	-1.27	0.09347	.	.	.	.	.	T	0.41971	0.1182	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26710	-1.0095	4	.	.	.	-15.02	2.7078	0.05166	0.1161:0.4043:0.1147:0.3649	.	.	.	.	G	141	.	.	C	+	1	0	C9orf3	96884686	0.022000	0.18835	0.045000	0.18777	0.927000	0.56198	-0.899000	0.04101	-0.158000	0.11040	-2.337000	0.00247	TGT	C9orf3	-	pfam_Peptidase_M1_C,superfamily_ARM-type_fold	ENSG00000148120		0.602	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		123	0.80	1	T	NM_032823		97844865	97844865	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445181	ensembl	human	known	69_37n	missense	51	21.54	14	SNP	0.119	G
C9orf91	203197	genome.wustl.edu	37	9	117379495	117379495	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:117379495T>G	ENST00000288502.4	+	2	457	c.20T>G	c.(19-21)gTg>gGg	p.V7G	C9orf91_ENST00000374049.4_Missense_Mutation_p.V7G|Y_RNA_ENST00000364879.1_RNA|C9orf91_ENST00000471206.1_3'UTR|AL160275.1_ENST00000606438.1_RNA			Q5VZI3	CI091_HUMAN	chromosome 9 open reading frame 91	7						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						GAACCACAGGTGGACCCGGGG	0.632																																						dbGAP											0													37.0	42.0	41.0					9																	117379495		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX649023	CCDS6808.1	9q33.1	2008-02-05			ENSG00000157693	ENSG00000157693			24513	protein-coding gene	gene with protein product						14702039	Standard	NM_153045		Approved	DKFZp547P234, FLJ38045	uc004bjd.4	Q5VZI3	OTTHUMG00000020541	ENST00000288502.4:c.20T>G	9.37:g.117379495T>G	ENSP00000288502:p.Val7Gly		A0PJA3|Q3KNS4|Q5VZI2|Q6P5Z7|Q8N1P3|Q8ND43	Missense_Mutation	SNP	NULL	p.V7G	ENST00000288502.4	37	c.20	CCDS6808.1	9	.	.	.	.	.	.	.	.	.	.	T	9.517	1.107348	0.20714	.	.	ENSG00000157693	ENST00000374049;ENST00000288502	.	.	.	4.38	-0.452	0.12205	.	1.093840	0.06912	N	0.807824	T	0.17704	0.0425	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.28396	-1.0045	9	0.20519	T	0.43	-17.5239	7.1684	0.25704	0.0:0.395:0.0:0.605	.	7	Q5VZI3	CI091_HUMAN	G	7	.	ENSP00000288502:V7G	V	+	2	0	C9orf91	116419316	0.010000	0.17322	0.007000	0.13788	0.650000	0.38633	0.037000	0.13840	-0.080000	0.12685	0.454000	0.30748	GTG	C9orf91	-	NULL	ENSG00000157693		0.632	C9orf91-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C9orf91	HGNC	protein_coding	OTTHUMT00000053780.1	79	0.00	0	T	NM_153045		117379495	117379495	+1	no_errors	ENST00000374049	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	0.009	G
STKLD1	169436	genome.wustl.edu	37	9	136268878	136268878	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:136268878T>G	ENST00000371957.3	+	15	1636	c.1529T>G	c.(1528-1530)gTg>gGg	p.V510G	C9orf96_ENST00000371955.1_Missense_Mutation_p.V43G	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		510							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATCAGCCAGGTGTTGGCCACC	0.637																																						dbGAP											0													48.0	45.0	46.0					9																	136268878		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000371957.3:c.1529T>G	9.37:g.136268878T>G	ENSP00000361025:p.Val510Gly		Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	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.V510G	ENST00000371957.3	37	c.1529	CCDS35169.1	9	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226155	0.39300	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.50548	0.74;0.77	4.6	3.43	0.39272	Armadillo-like helical (1);Armadillo-type fold (1);	0.208630	0.32671	N	0.005797	T	0.44829	0.1312	L	0.42245	1.32	0.20196	N	0.999921	D	0.54397	0.966	P	0.49012	0.598	T	0.35301	-0.9794	10	0.87932	D	0	-14.1568	8.1914	0.31370	0.1784:0.0:0.0:0.8216	.	510	Q8NE28	SGK71_HUMAN	G	510;43	ENSP00000361025:V510G;ENSP00000361023:V43G	ENSP00000361023:V43G	V	+	2	0	C9orf96	135258699	0.081000	0.21417	0.003000	0.11579	0.256000	0.26092	1.586000	0.36611	0.735000	0.32537	0.459000	0.35465	GTG	C9orf96	-	superfamily_ARM-type_fold	ENSG00000198870		0.637	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf96	HGNC	protein_coding	OTTHUMT00000054855.1	68	0.00	0	T			136268878	136268878	+1	no_errors	ENST00000371957	ensembl	human	known	69_37n	missense	37	15.56	7	SNP	0.006	G
C9orf142	286257	genome.wustl.edu	37	9	139888352	139888352	+	3'UTR	SNP	A	A	C	rs14512		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:139888352A>C	ENST00000371620.3	+	0	736				C9orf142_ENST00000493968.1_3'UTR|CLIC3_ENST00000480181.1_5'Flank	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142							extracellular vesicular exosome (GO:0070062)						all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CACCACCTCCACCTGCCTGTC	0.622																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC002613	CCDS7020.1	9q34.3	2008-02-05			ENSG00000148362	ENSG00000148362			27849	protein-coding gene	gene with protein product							Standard	NM_183241		Approved		uc004cki.3	Q9BUH6	OTTHUMG00000020971	ENST00000371620.3:c.*95A>C	9.37:g.139888352A>C			Q8IY19	RNA	SNP	-	NULL	ENST00000371620.3	37	NULL	CCDS7020.1	9																																																																																			C9orf142	-	-	ENSG00000148362		0.622	C9orf142-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf142	HGNC	protein_coding	OTTHUMT00000055255.1	69	0.00	0	A	NM_183241		139888352	139888352	+1	no_errors	ENST00000463765	ensembl	human	known	69_37n	rna	24	33.33	13	SNP	0.015	C
CACHD1	57685	genome.wustl.edu	37	1	65145336	65145336	+	Silent	SNP	A	A	G	rs202196581		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:65145336A>G	ENST00000371073.2	+	24	3303	c.3303A>G	c.(3301-3303)ggA>ggG	p.G1101G	CACHD1_ENST00000290039.5_Silent_p.G1050G|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1101					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						CTGTGGCTGGAGGGATCATGG	0.507																																						dbGAP											0													97.0	101.0	100.0					1																	65145336		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.3303A>G	1.37:g.65145336A>G			Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.G1101	ENST00000371073.2	37	c.3303		1																																																																																			CACHD1	-	NULL	ENSG00000158966		0.507	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		176	0.56	1	A	NM_020925		65145336	65145336	+1	no_errors	ENST00000371073	ensembl	human	known	69_37n	silent	114	16.79	23	SNP	0.943	G
CACNA1F	778	genome.wustl.edu	37	X	49088211	49088211	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:49088211T>G	ENST00000376265.2	-	2	265	c.204A>C	c.(202-204)tcA>tcC	p.S68S	CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Silent_p.S68S	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	68					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGCCCGAGGTGACCGCTGGG	0.622																																						dbGAP											0													90.0	66.0	74.0					X																	49088211		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.204A>C	X.37:g.49088211T>G			A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.S68	ENST00000376265.2	37	c.204	CCDS35253.1	X																																																																																			CACNA1F	-	NULL	ENSG00000102001		0.622	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	110	0.90	1	T	NM_005183		49088211	49088211	-1	no_errors	ENST00000376265	ensembl	human	known	69_37n	silent	63	18.99	15	SNP	0.999	G
CACNA1I	8911	genome.wustl.edu	37	22	40061535	40061535	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:40061535T>G	ENST00000402142.3	+	22	3884	c.3884T>G	c.(3883-3885)gTg>gGg	p.V1295G	CACNA1I_ENST00000400164.3_Missense_Mutation_p.V1260G|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V1260G|CACNA1I_ENST00000336649.4_Missense_Mutation_p.V1301G|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V1260G|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V1295G	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1295					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGAAGCTGGTGGTGGAGACA	0.617																																						dbGAP											0													94.0	94.0	94.0					22																	40061535		2167	4246	6413	-	-	-	SO:0001583	missense	0			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3884T>G	22.37:g.40061535T>G	ENSP00000385019:p.Val1295Gly		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.V1301G	ENST00000402142.3	37	c.3902	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799362	0.90538	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02;-5.02	4.88	4.88	0.63580	Ion transport (1);	0.059212	0.64402	D	0.000003	D	0.99360	0.9775	H	0.97852	4.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.98423	1.0578	10	0.87932	D	0	.	14.4887	0.67634	0.0:0.0:0.0:1.0	.	1260;1295;1260;1295	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	G	1295;1260;1295;1260;1301;1260	ENSP00000385019:V1295G;ENSP00000384093:V1260G;ENSP00000383887:V1295G;ENSP00000385680:V1260G;ENSP00000337829:V1301G;ENSP00000383028:V1260G	ENSP00000337829:V1301G	V	+	2	0	CACNA1I	38391481	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.951000	0.87819	1.828000	0.53243	0.459000	0.35465	GTG	CACNA1I	-	pfam_Ion_trans_dom	ENSG00000100346		0.617	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	138	0.00	0	T	NM_001003406		40061535	40061535	+1	no_errors	ENST00000336649	ensembl	human	known	69_37n	missense	144	13.69	23	SNP	1.000	G
CACNA2D2	9254	genome.wustl.edu	37	3	50415161	50415161	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:50415161A>C	ENST00000479441.1	-	16	1551		c.e16+1		CACNA2D2_ENST00000424201.2_Splice_Site|CACNA2D2_ENST00000435965.1_Splice_Site|CACNA2D2_ENST00000266039.3_Splice_Site|CACNA2D2_ENST00000360963.3_Splice_Site|CACNA2D2_ENST00000429770.1_Splice_Site|CACNA2D2_ENST00000395083.1_Splice_Site|CACNA2D2_ENST00000423994.2_Splice_Site			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2						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)	CCCTTTCCTCACCTTCTTTTC	0.607																																						dbGAP											0													103.0	103.0	103.0					3																	50415161		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	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.1551+1T>G	3.37:g.50415161A>C			A7MD15|Q9NY48|Q9UEW0|Q9Y268	Splice_Site	SNP	-	e16+2	ENST00000479441.1	37	c.1551+2	CCDS54588.1	3	.	.	.	.	.	.	.	.	.	.	A	18.35	3.604178	0.66445	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	.	.	.	5.35	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3681	0.44038	0.9118:0.0:0.0882:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA2D2	50390165	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	4.800000	0.62524	2.013000	0.59113	0.477000	0.44152	.	CACNA2D2	-	-	ENSG00000007402		0.607	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACNA2D2	HGNC	protein_coding	OTTHUMT00000346457.1	91	0.00	0	A	NM_006030	Intron	50415161	50415161	-1	no_errors	ENST00000435965	ensembl	human	known	69_37n	splice_site	122	15.75	23	SNP	0.956	C
CACNA2D4	93589	genome.wustl.edu	37	12	2027530	2027530	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:2027530A>G	ENST00000382722.5	-	1	472	c.110T>C	c.(109-111)cTc>cCc	p.L37P	RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.L37P|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.L37P|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.L37P	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	37					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CATTGGCTGGAGGGGAATCCA	0.672																																					Colon(2;101 179 21030 23310 28141)	dbGAP											0													16.0	22.0	20.0					12																	2027530		1924	4123	6047	-	-	-	SO:0001583	missense	0			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.110T>C	12.37:g.2027530A>G	ENSP00000372169:p.Leu37Pro		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.L37P	ENST00000382722.5	37	c.110	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	14.97	2.693692	0.48202	.	.	ENSG00000151062	ENST00000280663;ENST00000382722	T	0.07216	3.21	5.22	1.1	0.20463	.	2.408140	0.01416	N	0.014189	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34304	-0.9834	10	0.25106	T	0.35	.	2.6071	0.04881	0.1364:0.4418:0.2651:0.1568	.	37;37	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	P	37	ENSP00000372169:L37P	ENSP00000280663:L37P	L	-	2	0	CACNA2D4	1897791	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.020000	0.03618	-0.011000	0.14247	-1.022000	0.02435	CTC	CACNA2D4	-	NULL	ENSG00000151062		0.672	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	91	0.00	0	A			2027530	2027530	-1	no_errors	ENST00000382722	ensembl	human	known	69_37n	missense	55	22.54	16	SNP	0.000	G
CACNB1	782	genome.wustl.edu	37	17	37333656	37333656	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:37333656T>G	ENST00000394303.3	-	13	1486	c.1279A>C	c.(1279-1281)Acc>Ccc	p.T427P	CACNB1_ENST00000394310.3_Missense_Mutation_p.T427P|CACNB1_ENST00000344140.5_Missense_Mutation_p.T472P|RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	427					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAGCCATGGTGCGGTTCAGC	0.642																																					Esophageal Squamous(5;100 366 38393 41452 45827)	dbGAP											0													47.0	40.0	42.0					17																	37333656		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1279A>C	17.37:g.37333656T>G	ENSP00000377840:p.Thr427Pro		A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su	p.T427P	ENST00000394303.3	37	c.1279	CCDS42311.1	17	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718993	0.89205	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	T;T;T	0.78126	-1.15;-1.11;-1.1	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.85656	0.5747	M	0.66939	2.045	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.78314	0.991;0.991;0.987	D	0.84632	0.0690	10	0.34782	T	0.22	-27.4325	14.1185	0.65172	0.0:0.0:0.0:1.0	.	472;427;427	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	P	377;427;472;427;378	ENSP00000377840:T427P;ENSP00000345461:T472P;ENSP00000377847:T427P	ENSP00000345461:T472P	T	-	1	0	CACNB1	34587182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.342000	0.52159	2.179000	0.69175	0.460000	0.39030	ACC	CACNB1	-	NULL	ENSG00000067191		0.642	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACNB1	HGNC	protein_coding	OTTHUMT00000256945.3	112	0.00	0	T			37333656	37333656	-1	no_errors	ENST00000394303	ensembl	human	known	69_37n	missense	69	16.87	14	SNP	1.000	G
CACNB3	784	genome.wustl.edu	37	12	49220851	49220851	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:49220851A>C	ENST00000301050.2	+	12	1284	c.1085A>C	c.(1084-1086)cAc>cCc	p.H362P	CACNB3_ENST00000547230.1_Missense_Mutation_p.H321P|CACNB3_ENST00000547392.1_Missense_Mutation_p.H335P|CACNB3_ENST00000536187.2_Missense_Mutation_p.H361P|CACNB3_ENST00000540990.1_Missense_Mutation_p.H349P	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	362					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCACGCACCACCCAGCCCCT	0.597																																						dbGAP											0													82.0	90.0	87.0					12																	49220851		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1085A>C	12.37:g.49220851A>C	ENSP00000301050:p.His362Pro		A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su	p.H362P	ENST00000301050.2	37	c.1085	CCDS8769.1	12	.	.	.	.	.	.	.	.	.	.	A	2.418	-0.333863	0.05278	.	.	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000547230	T;T;T;T;T	0.69926	-0.44;-0.43;-0.44;-0.43;0.16	5.47	5.47	0.80525	.	0.156902	0.56097	N	0.000022	T	0.44871	0.1314	N	0.08118	0	0.42261	D	0.992011	P;P;B;P	0.42620	0.531;0.785;0.261;0.679	B;B;B;B	0.41813	0.126;0.367;0.041;0.202	T	0.52675	-0.8544	10	0.02654	T	1	-27.1344	14.533	0.67939	1.0:0.0:0.0:0.0	.	361;349;362;349	F5GZW7;F5H2P6;P54284;B7Z973	.;.;CACB3_HUMAN;.	P	349;361;335;362;321	ENSP00000445495:H349P;ENSP00000444160:H361P;ENSP00000446529:H335P;ENSP00000301050:H362P;ENSP00000448304:H321P	ENSP00000301050:H362P	H	+	2	0	CACNB3	47507118	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.609000	0.54117	2.091000	0.63221	0.459000	0.35465	CAC	CACNB3	-	NULL	ENSG00000167535		0.597	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNB3	HGNC	protein_coding	OTTHUMT00000408886.1	63	0.00	0	A			49220851	49220851	+1	no_errors	ENST00000301050	ensembl	human	known	69_37n	missense	30	36.17	17	SNP	1.000	C
CACNG3	10368	genome.wustl.edu	37	16	24372911	24372911	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:24372911A>C	ENST00000005284.3	+	4	1877	c.675A>C	c.(673-675)ccA>ccC	p.P225P		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	225					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCCGCCTCCCACCCTACAGGT	0.537																																						dbGAP											0													86.0	83.0	84.0					16																	24372911		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.675A>C	16.37:g.24372911A>C				Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	p.P225	ENST00000005284.3	37	c.675	CCDS10620.1	16																																																																																			CACNG3	-	NULL	ENSG00000006116		0.537	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG3	HGNC	protein_coding	OTTHUMT00000254548.1	104	0.00	0	A	NM_006539		24372911	24372911	+1	no_errors	ENST00000005284	ensembl	human	known	69_37n	silent	182	11.59	24	SNP	0.869	C
CAD	790	genome.wustl.edu	37	2	27459320	27459320	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:27459320A>C	ENST00000403525.1	+	25	4198	c.4054A>C	c.(4054-4056)Acc>Ccc	p.T1352P	CAD_ENST00000264705.4_Missense_Mutation_p.T1415P			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCTACCGCACCCGACGCTT	0.557																																						dbGAP											0													67.0	67.0	67.0					2																	27459320		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4054A>C	2.37:g.27459320A>C	ENSP00000384510:p.Thr1352Pro		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf_euk,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf_euk	p.T1415P	ENST00000403525.1	37	c.4243		2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.301211	0.81136	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.86956	-2.19;-2.19	5.03	5.03	0.67393	Methylglyoxal synthase-like domain (4);	0.044571	0.85682	D	0.000000	D	0.91686	0.7372	M	0.81682	2.555	0.58432	D	0.999999	P;D	0.63046	0.951;0.992	P;P	0.62885	0.894;0.908	D	0.92068	0.5662	10	0.72032	D	0.01	0.5059	8.5828	0.33640	0.912:0.0:0.088:0.0	.	1352;1415	F8VPD4;P27708	.;PYR1_HUMAN	P	1415;1352	ENSP00000264705:T1415P;ENSP00000384510:T1352P	ENSP00000264705:T1415P	T	+	1	0	CAD	27312824	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.751000	0.74893	2.009000	0.58944	0.459000	0.35465	ACC	CAD	-	pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.557	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	83	0.00	0	A			27459320	27459320	+1	no_errors	ENST00000264705	ensembl	human	known	69_37n	missense	45	22.03	13	SNP	1.000	C
CADM2	253559	genome.wustl.edu	37	3	85961657	85961657	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:85961657A>C	ENST00000407528.2	+	5	699	c.637A>C	c.(637-639)Acc>Ccc	p.T213P	CADM2_ENST00000405615.2_Missense_Mutation_p.T215P|CADM2_ENST00000383699.3_Missense_Mutation_p.T222P	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	213	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CCTCAATGCCACCCCTCAGGT	0.488																																						dbGAP											0													112.0	93.0	99.0					3																	85961657		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.637A>C	3.37:g.85961657A>C	ENSP00000384575:p.Thr213Pro		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.T215P	ENST00000407528.2	37	c.643	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	A	14.65	2.597741	0.46318	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	D;D;D	0.85861	-2.04;-2.04;-2.04	5.5	5.5	0.81552	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.095582	0.64402	D	0.000001	T	0.79423	0.4443	L	0.36672	1.1	0.47308	D	0.999389	P;P;P	0.49559	0.572;0.925;0.857	B;B;B	0.43623	0.34;0.387;0.425	T	0.78715	-0.2096	10	0.35671	T	0.21	.	11.3726	0.49708	0.8644:0.0:0.0:0.1356	.	215;222;213	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	P	222;213;215	ENSP00000373200:T222P;ENSP00000384575:T213P;ENSP00000384193:T215P	ENSP00000373200:T222P	T	+	1	0	CADM2	86044347	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.147000	0.50639	2.088000	0.63022	0.482000	0.46254	ACC	CADM2	-	pfscan_Ig-like	ENSG00000175161		0.488	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1	104	0.94	1	A	NM_153184		85961657	85961657	+1	no_errors	ENST00000405615	ensembl	human	known	69_37n	missense	50	21.88	14	SNP	1.000	C
CALB1	793	genome.wustl.edu	37	8	91094912	91094912	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:91094912T>G	ENST00000265431.3	-	1	195	c.14A>C	c.(13-15)cAc>cCc	p.H5P	CALB1_ENST00000518457.1_5'Flank	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	5	Interaction with RANBP9.				cellular response to organic substance (GO:0071310)|cytosolic calcium ion homeostasis (GO:0051480)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|metanephric collecting duct development (GO:0072205)|metanephric connecting tubule development (GO:0072286)|metanephric distal convoluted tubule development (GO:0072221)|metanephric part of ureteric bud development (GO:0035502)|regulation of synaptic plasticity (GO:0048167)|retina layer formation (GO:0010842)|short-term memory (GO:0007614)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|vitamin D binding (GO:0005499)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TGACTGCAGGTGGGATTCTGC	0.527																																					Melanoma(46;573 1182 27367 39727 48386)	dbGAP											0													284.0	248.0	260.0					8																	91094912		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6251.1	8q21.3	2013-01-10	2002-08-29		ENSG00000104327	ENSG00000104327		"""EF-hand domain containing"""	1434	protein-coding gene	gene with protein product		114050		CALB			Standard	NM_004929		Approved		uc003yel.1	P05937	OTTHUMG00000134314	ENST00000265431.3:c.14A>C	8.37:g.91094912T>G	ENSP00000265431:p.His5Pro		B2R696|B7Z9J4	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.H5P	ENST00000265431.3	37	c.14	CCDS6251.1	8	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755023	0.69648	.	.	ENSG00000104327	ENST00000265431	D	0.90732	-2.72	5.68	5.68	0.88126	.	0.057789	0.64402	D	0.000001	D	0.86527	0.5954	L	0.38838	1.175	0.80722	D	1	P	0.40476	0.718	B	0.42522	0.39	D	0.86186	0.1609	10	0.51188	T	0.08	-8.4431	9.2382	0.37479	0.1611:0.0:0.0:0.8389	.	5	P05937	CALB1_HUMAN	P	5	ENSP00000265431:H5P	ENSP00000265431:H5P	H	-	2	0	CALB1	91164088	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	3.437000	0.52863	2.161000	0.67846	0.460000	0.39030	CAC	CALB1	-	NULL	ENSG00000104327		0.527	CALB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALB1	HGNC	protein_coding	OTTHUMT00000259338.2	399	0.74	3	T	NM_004929		91094912	91094912	-1	no_errors	ENST00000265431	ensembl	human	known	69_37n	missense	520	14.38	88	SNP	1.000	G
CALU	813	genome.wustl.edu	37	7	128394491	128394491	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:128394491A>C	ENST00000249364.4	+	3	499	c.397A>C	c.(397-399)Acc>Ccc	p.T133P	CALU_ENST00000535623.1_Missense_Mutation_p.T141P|CALU_ENST00000479257.1_Missense_Mutation_p.T141P|CALU_ENST00000535011.2_Missense_Mutation_p.T133P|CALU_ENST00000542996.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000449187.2_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	133	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						TAAAAATGCCACCTACGGCTA	0.493																																						dbGAP											0													95.0	85.0	88.0					7																	128394491		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.397A>C	7.37:g.128394491A>C	ENSP00000249364:p.Thr133Pro		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.T133P	ENST00000249364.4	37	c.397	CCDS5805.1	7	.	.	.	.	.	.	.	.	.	.	A	23.8	4.462672	0.84425	.	.	ENSG00000128595	ENST00000535623;ENST00000538394;ENST00000535011;ENST00000249364;ENST00000479257	T;T;T;T	0.64803	-0.12;3.13;2.6;2.59	5.96	5.96	0.96718	EF-hand-like domain (1);	0.095611	0.64402	D	0.000001	T	0.80623	0.4658	M	0.88775	2.98	0.80722	D	1	D	0.69078	0.997	D	0.64776	0.929	T	0.82649	-0.0353	10	0.44086	T	0.13	-4.9454	14.3901	0.66973	1.0:0.0:0.0:0.0	.	133	O43852	CALU_HUMAN	P	141;133;133;133;141	ENSP00000439139:T141P;ENSP00000442110:T133P;ENSP00000249364:T133P;ENSP00000420381:T141P	ENSP00000249364:T133P	T	+	1	0	CALU	128181727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.460000	0.80816	2.280000	0.76307	0.533000	0.62120	ACC	CALU	-	pfscan_EF_HAND_2	ENSG00000128595		0.493	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALU	HGNC	protein_coding	OTTHUMT00000350533.1	175	0.57	1	A	NM_001219		128394491	128394491	+1	no_errors	ENST00000249364	ensembl	human	known	69_37n	missense	129	12.24	18	SNP	1.000	C
CAPG	822	genome.wustl.edu	37	2	85622707	85622707	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:85622707A>C	ENST00000409921.1	-	9	956	c.890T>G	c.(889-891)gTg>gGg	p.V297G	CAPG_ENST00000483659.1_5'UTR|CAPG_ENST00000263867.4_Missense_Mutation_p.V312G|CAPG_ENST00000409670.1_Missense_Mutation_p.V312G|CAPG_ENST00000409724.1_Missense_Mutation_p.V312G			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						GCCCTCGGCCACCTGCAGGGC	0.582																																						dbGAP											0													46.0	42.0	43.0					2																	85622707		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.890T>G	2.37:g.85622707A>C	ENSP00000387063:p.Val297Gly		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.V312G	ENST00000409921.1	37	c.935	CCDS58715.1	2	.	.	.	.	.	.	.	.	.	.	A	13.70	2.316022	0.40996	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000453973;ENST00000409921;ENST00000409670;ENST00000409724	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.68	5.68	0.88126	Gelsolin domain (1);	0.244591	0.41605	D	0.000856	T	0.64821	0.2633	M	0.71206	2.165	0.58432	D	0.999999	B;P;D	0.62365	0.324;0.72;0.991	B;B;P	0.58620	0.174;0.206;0.842	T	0.63292	-0.6670	10	0.27082	T	0.32	.	12.3184	0.54971	1.0:0.0:0.0:0.0	.	291;297;312	B4DU58;B8ZZS7;P40121	.;.;CAPG_HUMAN	G	291;312;67;297;312;312	ENSP00000263867:V312G;ENSP00000397381:V67G;ENSP00000387063:V297G;ENSP00000386315:V312G;ENSP00000386965:V312G	ENSP00000263867:V312G	V	-	2	0	CAPG	85476218	1.000000	0.71417	0.944000	0.38274	0.167000	0.22549	3.419000	0.52728	2.177000	0.69029	0.402000	0.26972	GTG	CAPG	-	pfam_Gelsolin_dom,smart_Gelsolin	ENSG00000042493		0.582	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	CAPG	HGNC	protein_coding	OTTHUMT00000329383.1	114	0.00	0	A	NM_001747		85622707	85622707	-1	no_errors	ENST00000263867	ensembl	human	known	69_37n	missense	47	26.56	17	SNP	0.998	C
CAPN10	11132	genome.wustl.edu	37	2	241536234	241536234	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:241536234A>C	ENST00000391984.2	+	9	1814	c.1618A>C	c.(1618-1620)Acc>Ccc	p.T540P	CAPN10_ENST00000404753.3_Missense_Mutation_p.T540P|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	540	Domain III 2.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CTCATACCCCACCAACCCCTG	0.692																																						dbGAP											0													30.0	37.0	35.0					2																	241536234		2001	4158	6159	-	-	-	SO:0001583	missense	0			AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.1618A>C	2.37:g.241536234A>C	ENSP00000375844:p.Thr540Pro		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat	p.T540P	ENST00000391984.2	37	c.1618	CCDS42838.1	2	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542097	0.45280	.	.	ENSG00000142330	ENST00000391984;ENST00000404753	D;D	0.88431	-2.38;-2.38	4.91	2.33	0.28932	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.713290	0.13605	U	0.375524	D	0.84329	0.5448	L	0.58510	1.815	0.09310	N	0.999995	P;P	0.37398	0.593;0.593	B;B	0.36567	0.228;0.228	T	0.72629	-0.4235	10	0.40728	T	0.16	.	5.7581	0.18184	0.6467:0.154:0.0:0.1994	.	540;540	B7WPF5;Q9HC96	.;CAN10_HUMAN	P	540	ENSP00000375844:T540P;ENSP00000384422:T540P	ENSP00000375844:T540P	T	+	1	0	CAPN10	241184907	0.001000	0.12720	0.643000	0.29450	0.990000	0.78478	0.763000	0.26517	0.159000	0.19401	0.529000	0.55759	ACC	CAPN10	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III	ENSG00000142330		0.692	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN10	HGNC	protein_coding	OTTHUMT00000257191.3	32	0.00	0	A	NM_023083		241536234	241536234	+1	no_errors	ENST00000391984	ensembl	human	known	69_37n	missense	23	30.30	10	SNP	0.075	C
CAPN2	824	genome.wustl.edu	37	1	223943262	223943262	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:223943262A>C	ENST00000295006.5	+	10	1525	c.1216A>C	c.(1216-1218)Acc>Ccc	p.T406P	CAPN2_ENST00000433674.2_Missense_Mutation_p.T328P	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	406	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		gAGCGGCTGCACCTTCCTGGT	0.597																																						dbGAP											0													138.0	107.0	117.0					1																	223943262		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1216A>C	1.37:g.223943262A>C	ENSP00000295006:p.Thr406Pro		A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat	p.T406P	ENST00000295006.5	37	c.1216	CCDS31035.1	1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.320674	0.81469	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.88664	-2.41;-2.41	5.35	5.35	0.76521	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.097992	0.64402	D	0.000001	D	0.93307	0.7867	M	0.66560	2.04	0.80722	D	1	P;D	0.61080	0.793;0.989	P;D	0.69654	0.538;0.965	D	0.94063	0.7328	10	0.87932	D	0	.	15.3586	0.74448	1.0:0.0:0.0:0.0	.	328;406	B7ZA96;P17655	.;CAN2_HUMAN	P	328;406;435	ENSP00000413158:T328P;ENSP00000295006:T406P	ENSP00000295006:T406P	T	+	1	0	CAPN2	222009885	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.327000	0.79147	2.029000	0.59856	0.460000	0.39030	ACC	CAPN2	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III	ENSG00000162909		0.597	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	203	0.49	1	A	NM_001748		223943262	223943262	+1	no_errors	ENST00000295006	ensembl	human	known	69_37n	missense	260	12.04	36	SNP	1.000	C
CARM1	10498	genome.wustl.edu	37	19	11031537	11031537	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:11031537A>C	ENST00000327064.4	+	13	1642	c.1452A>C	c.(1450-1452)ccA>ccC	p.P484P	CARM1_ENST00000344150.4_Silent_p.P484P	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	484					cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						CCTCACCCCCACCCGGCTCCC	0.667																																						dbGAP											0													91.0	92.0	92.0					19																	11031537		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1452A>C	19.37:g.11031537A>C			A6NN38	Silent	SNP	pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11	p.P484	ENST00000327064.4	37	c.1452	CCDS12250.1	19																																																																																			CARM1	-	NULL	ENSG00000142453		0.667	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARM1	HGNC	protein_coding	OTTHUMT00000452625.1	114	0.00	0	A	XM_032719		11031537	11031537	+1	no_errors	ENST00000327064	ensembl	human	known	69_37n	silent	80	15.79	15	SNP	0.574	C
CARS	833	genome.wustl.edu	37	11	3063423	3063423	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:3063423T>G	ENST00000397111.5	-	2	334	c.89A>C	c.(88-90)cAc>cCc	p.H30P	CARS_ENST00000278224.9_Missense_Mutation_p.H30P|CARS_ENST00000397114.3_Silent_p.P4P|CARS_ENST00000401769.3_Missense_Mutation_p.H43P|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000380525.4_Missense_Mutation_p.H113P			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	30					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GTTGTAAAGGTGGAGTCTGCA	0.627			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	dbGAP		Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													188.0	144.0	159.0					11																	3063423		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.89A>C	11.37:g.3063423T>G	ENSP00000380300:p.His30Pro		Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-synt	p.H113P	ENST00000397111.5	37	c.338	CCDS7742.1	11	.	.	.	.	.	.	.	.	.	.	T	9.505	1.104329	0.20632	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000401769	T;T;T;T	0.08807	3.05;3.05;3.05;3.05	4.66	2.78	0.32641	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.298090	0.37437	N	0.002082	T	0.06325	0.0163	N	0.24115	0.695	0.31159	N	0.704514	B;B;B;B;B	0.33919	0.432;0.019;0.035;0.137;0.017	B;B;B;B;B	0.32677	0.024;0.008;0.071;0.15;0.012	T	0.07673	-1.0760	10	0.62326	D	0.03	-20.1149	10.9823	0.47501	0.0:0.8706:0.0:0.1294	.	43;113;30;30;113	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4	.;.;SYCC_HUMAN;.;.	P	113;30;30;43	ENSP00000369897:H113P;ENSP00000380300:H30P;ENSP00000278224:H30P;ENSP00000384069:H43P	ENSP00000278224:H30P	H	-	2	0	CARS	3019999	1.000000	0.71417	0.770000	0.31555	0.313000	0.28021	1.645000	0.37238	0.559000	0.29153	-0.451000	0.05528	CAC	CARS	-	tigrfam_Cys-tRNA-synt	ENSG00000110619		0.627	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	111	0.00	0	T	NM_001751		3063423	3063423	-1	no_errors	ENST00000380525	ensembl	human	known	69_37n	missense	160	11.48	21	SNP	1.000	G
CASC4	113201	genome.wustl.edu	37	15	44581295	44581295	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:44581295T>G	ENST00000345795.2	+	1	338	c.68T>G	c.(67-69)gTg>gGg	p.V23G	CASC4_ENST00000429162.2_3'UTR|CASC4_ENST00000299957.6_Missense_Mutation_p.V23G|CASC4_ENST00000360824.3_Missense_Mutation_p.V23G	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	23						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GTGCTGCTGGTGGTGATCGTC	0.682																																						dbGAP											0													58.0	54.0	56.0					15																	44581295		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.68T>G	15.37:g.44581295T>G	ENSP00000335063:p.Val23Gly		B4DPZ6|G5E934|Q6UY45|Q96EM1	Missense_Mutation	SNP	NULL	p.V23G	ENST00000345795.2	37	c.68	CCDS10109.1	15	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465753	0.84425	.	.	ENSG00000166734	ENST00000299957;ENST00000429162;ENST00000345795;ENST00000360824;ENST00000416522	.	.	.	5.72	5.72	0.89469	.	0.267510	0.35378	N	0.003260	T	0.52565	0.1742	L	0.58101	1.795	0.80722	D	1	B;B;P	0.36959	0.42;0.095;0.575	B;B;B	0.36244	0.143;0.09;0.22	T	0.59064	-0.7524	9	0.87932	D	0	-6.0079	9.1581	0.37005	0.0:0.1414:0.0:0.8586	.	23;23;23	Q6P4E1-2;G5E934;Q6P4E1	.;.;CASC4_HUMAN	G	23;23;23;23;2	.	ENSP00000299957:V23G	V	+	2	0	CASC4	42368587	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.601000	0.46249	2.178000	0.69098	0.459000	0.35465	GTG	CASC4	-	NULL	ENSG00000166734		0.682	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC4	HGNC	protein_coding	OTTHUMT00000253816.1	40	0.00	0	T	NM_138423		44581295	44581295	+1	no_errors	ENST00000299957	ensembl	human	known	69_37n	missense	17	28.00	7	SNP	1.000	G
CASKIN1	57524	genome.wustl.edu	37	16	2231334	2231334	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:2231334A>G	ENST00000343516.6	-	18	2127	c.2035T>C	c.(2035-2037)Tcc>Ccc	p.S679P	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	679					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGGTGGCTGGAGGGCTTCTCA	0.677																																						dbGAP											0													13.0	19.0	17.0					16																	2231334		2012	4147	6159	-	-	-	SO:0001583	missense	0			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.2035T>C	16.37:g.2231334A>G	ENSP00000345436:p.Ser679Pro		Q9P2P0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.S679P	ENST00000343516.6	37	c.2035	CCDS42103.1	16	.	.	.	.	.	.	.	.	.	.	A	2.547	-0.305017	0.05495	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.67523	-0.27	4.36	-0.734	0.11140	.	.	.	.	.	T	0.28433	0.0703	N	0.00926	-1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17899	-1.0354	9	0.36615	T	0.2	-6.2303	0.4502	0.00500	0.3256:0.1408:0.2793:0.2542	.	679	Q8WXD9	CSKI1_HUMAN	P	679;508	ENSP00000345436:S679P	ENSP00000345436:S679P	S	-	1	0	CASKIN1	2171335	0.009000	0.17119	0.613000	0.29037	0.014000	0.08584	0.956000	0.29202	0.216000	0.20781	-0.451000	0.05528	TCC	CASKIN1	-	NULL	ENSG00000167971		0.677	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN1	HGNC	protein_coding	OTTHUMT00000435055.1	31	0.00	0	A	NM_020764		2231334	2231334	-1	no_errors	ENST00000343516	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	0.223	G
CASP8	841	genome.wustl.edu	37	2	202122980	202122980	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:202122980T>G	ENST00000432109.2	+	3	189				CASP8_ENST00000264274.9_Intron|CASP8_ENST00000358485.4_Missense_Mutation_p.V9G|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000392258.3_Intron|CASP8_ENST00000264275.5_Intron|CASP8_ENST00000323492.7_5'Flank	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						AGAGCCAGGGTGGTTATTGAA	0.502										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	dbGAP											0													187.0	191.0	189.0					2																	202122980		1926	4131	6057	-	-	-	SO:0001627	intron_variant	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.0-8230T>G	2.37:g.202122980T>G			O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.V9G	ENST00000432109.2	37	c.26	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	T	10.15	1.270089	0.23221	.	.	ENSG00000064012	ENST00000358485	T	0.02737	4.18	3.66	0.43	0.16515	.	15.149700	0.00582	N	0.000329	T	0.03220	0.0094	.	.	.	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.44283	-0.9338	9	0.87932	D	0	.	5.9805	0.19405	0.0:0.1513:0.3396:0.509	.	9	Q14790-9	.	G	9	ENSP00000351273:V9G	ENSP00000351273:V9G	V	+	2	0	CASP8	201831225	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.031000	0.12287	0.070000	0.16634	0.454000	0.30748	GTG	CASP8	-	NULL	ENSG00000064012		0.502	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	172	0.57	1	T	NM_001228		202122980	202122980	+1	no_errors	ENST00000358485	ensembl	human	known	69_37n	missense	129	22.75	38	SNP	0.000	G
CASP8AP2	9994	genome.wustl.edu	37	6	90572238	90572238	+	RNA	SNP	T	T	G	rs201596073		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:90572238T>G	ENST00000551025.1	+	0	2247									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GTACTGGCTGTGGTGATGGTG	0.403																																					Colon(187;1656 2025 17045 31481 39901)	dbGAP											0													175.0	176.0	176.0					6																	90572238		1945	4142	6087	-	-	-			0			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572238T>G				RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-	ENSG00000118412		0.403	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		118	0.00	0	T	NM_001137667		90572238	90572238	+1	no_errors	ENST00000237177	ensembl	human	known	69_37n	rna	103	13.45	16	SNP	0.005	G
CATSPER1	117144	genome.wustl.edu	37	11	65793147	65793147	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:65793147T>G	ENST00000312106.5	-	1	841	c.704A>C	c.(703-705)cAc>cCc	p.H235P		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	235	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|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)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TCCATGCTGGTGGGCTTCATG	0.577																																						dbGAP											0													99.0	86.0	90.0					11																	65793147		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.704A>C	11.37:g.65793147T>G	ENSP00000309052:p.His235Pro		Q96P76	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel	p.H235P	ENST00000312106.5	37	c.704	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	T	8.704	0.910341	0.17833	.	.	ENSG00000175294	ENST00000312106	D	0.97404	-4.37	3.75	-2.65	0.06095	.	1.271010	0.05864	N	0.623574	D	0.92980	0.7766	L	0.55481	1.735	0.09310	N	1	P	0.45126	0.851	B	0.35688	0.208	D	0.86319	0.1691	10	0.21014	T	0.42	-1.9518	5.6149	0.17426	0.0:0.1864:0.4336:0.38	.	235	Q8NEC5	CTSR1_HUMAN	P	235	ENSP00000309052:H235P	ENSP00000309052:H235P	H	-	2	0	CATSPER1	65549723	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.589000	0.02104	-0.610000	0.05716	0.338000	0.21704	CAC	CATSPER1	-	NULL	ENSG00000175294		0.577	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	HGNC	protein_coding	OTTHUMT00000391055.1	249	0.40	1	T	NM_053054		65793147	65793147	-1	no_errors	ENST00000312106	ensembl	human	known	69_37n	missense	218	11.02	27	SNP	0.000	G
CBFB	865	genome.wustl.edu	37	16	67070629	67070638	+	Frame_Shift_Del	DEL	TATGTCGACT	TATGTCGACT	-			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	TATGTCGACT	TATGTCGACT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:67070629_67070638delTATGTCGACT	ENST00000290858.6	+	3	514_523	c.253_262delTATGTCGACT	c.(253-264)tatgtcgacttafs	p.YVDL85fs	CBFB_ENST00000412916.2_Frame_Shift_Del_p.YVDL85fs|CBFB_ENST00000561924.2_De_novo_Start_InFrame	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	85					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.V86V(1)		breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		TAGCCGAGAGTATGTCGACTTAGAAAGAGA	0.4			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	1	Substitution - coding silent(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.253_262delTATGTCGACT	16.37:g.67070629_67070638delTATGTCGACT	ENSP00000290858:p.Tyr85fs		A8K347|Q13124|Q9HCT2	Frame_Shift_Del	DEL	pfam_CBF_beta,superfamily_CBF_beta	p.Y85fs	ENST00000290858.6	37	c.253_262	CCDS10827.1	16																																																																																			CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.400	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	110	0.00	0	TATGTCGACT	NM_001755		67070629	67070638	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	frame_shift_del	47	30.43	21	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
CBLC	23624	genome.wustl.edu	37	19	45284606	45284606	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:45284606A>C	ENST00000270279.3	+	3	706	c.643A>C	c.(643-645)Acc>Ccc	p.T215P	CBLC_ENST00000341505.4_Missense_Mutation_p.T215P	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	215	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|EF-hand-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CGACGTCTTCACCAGGCTCTT	0.607			M		AML																																	dbGAP		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													85.0	67.0	73.0					19																	45284606		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.643A>C	19.37:g.45284606A>C	ENSP00000270279:p.Thr215Pro		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.T215P	ENST00000270279.3	37	c.643	CCDS12643.1	19	.	.	.	.	.	.	.	.	.	.	.	17.12	3.308093	0.60305	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	D;D	0.91577	-2.52;-2.87	3.78	3.78	0.43462	Adaptor protein Cbl, PTB domain (1);EF-hand-like domain (1);Adaptor protein Cbl, EF hand-like (1);	0.290613	0.25514	N	0.030159	D	0.94611	0.8263	M	0.82193	2.58	0.51482	D	0.999927	D;D	0.71674	0.996;0.998	D;D	0.72625	0.925;0.978	D	0.94684	0.7868	10	0.87932	D	0	-22.1045	10.5031	0.44817	1.0:0.0:0.0:0.0	.	215;215	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	P	215	ENSP00000270279:T215P;ENSP00000340250:T215P	ENSP00000270279:T215P	T	+	1	0	CBLC	49976446	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	8.436000	0.90300	1.597000	0.50072	0.255000	0.18592	ACC	CBLC	-	pfam_Adaptor_Cbl_EF_hand-like	ENSG00000142273		0.607	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	56	0.00	0	A	NM_012116		45284606	45284606	+1	no_errors	ENST00000270279	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	1.000	C
CBLC	23624	genome.wustl.edu	37	19	45297490	45297490	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:45297490A>C	ENST00000270279.3	+	9	1377	c.1314A>C	c.(1312-1314)ccA>ccC	p.P438P	CBLC_ENST00000341505.4_Silent_p.P392P	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	438	Interaction with RET.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CATTGCCCCCACGGCCAGATC	0.627			M		AML																																	dbGAP		Rec	yes		19	19q13.2	23624	Cas-Br-M (murine) ecotropic retroviral transforming sequence c		L	0													95.0	110.0	105.0					19																	45297490		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.1314A>C	19.37:g.45297490A>C			Q8N1E5|Q9Y5Z2|Q9Y5Z3	Silent	SNP	pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING	p.P438	ENST00000270279.3	37	c.1314	CCDS12643.1	19																																																																																			CBLC	-	NULL	ENSG00000142273		0.627	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLC	HGNC	protein_coding	OTTHUMT00000319732.2	178	0.56	1	A	NM_012116		45297490	45297490	+1	no_errors	ENST00000270279	ensembl	human	known	69_37n	silent	140	14.11	23	SNP	0.638	C
CBR1	873	genome.wustl.edu	37	21	37444933	37444933	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:37444933T>G	ENST00000290349.6	+	3	762	c.587T>G	c.(586-588)gTg>gGg	p.V196G	SETD4_ENST00000399201.1_Intron|AP000688.14_ENST00000535199.1_RNA|CBR1_ENST00000530908.1_3'UTR	NM_001757.2	NP_001748.1	P16152	CBR1_HUMAN	carbonyl reductase 1	196					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|drug metabolic process (GO:0017144)|epithelial cell differentiation (GO:0030855)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|vitamin K metabolic process (GO:0042373)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	15-hydroxyprostaglandin dehydrogenase (NADP+) activity (GO:0047021)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|prostaglandin-E2 9-reductase activity (GO:0050221)			endometrium(2)|kidney(3)	5					Doxorubicin(DB00997)|Haloperidol(DB00502)|Lubiprostone(DB01046)|Tetrabenazine(DB04844)	GCATACGGGGTGACGAAGATT	0.577																																						dbGAP											0													103.0	93.0	96.0					21																	37444933		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13641.1, CCDS68202.1	21q22.1	2011-09-14			ENSG00000159228	ENSG00000159228	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1548	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 1"""	114830		CBR		8432528, 19027726	Standard	NM_001757		Approved	SDR21C1	uc002yvb.1	P16152	OTTHUMG00000086618	ENST00000290349.6:c.587T>G	21.37:g.37444933T>G	ENSP00000290349:p.Val196Gly		B2RBZ7|B4DFK7|Q3LHW8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.V196G	ENST00000290349.6	37	c.587	CCDS13641.1	21	.	.	.	.	.	.	.	.	.	.	T	14.94	2.685168	0.47991	.	.	ENSG00000159228	ENST00000290349	T	0.10005	2.92	5.36	5.36	0.76844	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.249082	0.40222	N	0.001156	T	0.27241	0.0668	L	0.61036	1.89	0.80722	D	1	D	0.56521	0.976	P	0.59056	0.851	T	0.01024	-1.1477	10	0.87932	D	0	-19.3288	15.363	0.74496	0.0:0.0:0.0:1.0	.	196	P16152	CBR1_HUMAN	G	196	ENSP00000290349:V196G	ENSP00000290349:V196G	V	+	2	0	CBR1	36366803	1.000000	0.71417	0.069000	0.20011	0.002000	0.02628	5.089000	0.64492	2.033000	0.60031	0.459000	0.35465	GTG	CBR1	-	prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000159228		0.577	CBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR1	HGNC	protein_coding	OTTHUMT00000194633.2	135	0.00	0	T			37444933	37444933	+1	no_errors	ENST00000290349	ensembl	human	known	69_37n	missense	67	16.25	13	SNP	0.851	G
CBX8	57332	genome.wustl.edu	37	17	77768691	77768691	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:77768691T>G	ENST00000269385.4	-	5	1030	c.913A>C	c.(913-915)Acc>Ccc	p.T305P	CBX8_ENST00000485449.1_5'Flank	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	305					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGGACCCGGGTGCCATTGGGA	0.687																																						dbGAP											0													19.0	20.0	20.0					17																	77768691		2200	4300	6500	-	-	-	SO:0001583	missense	0			AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.913A>C	17.37:g.77768691T>G	ENSP00000269385:p.Thr305Pro		Q96H39|Q9NR07	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	p.T305P	ENST00000269385.4	37	c.913	CCDS11765.1	17	.	.	.	.	.	.	.	.	.	.	t	0.015	-1.557116	0.00910	.	.	ENSG00000141570	ENST00000269385	T	0.38887	1.11	4.47	-6.66	0.01789	.	1.666760	0.02799	N	0.122936	T	0.15478	0.0373	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20107	-1.0285	10	0.06757	T	0.87	-2.1169	2.0396	0.03547	0.1865:0.2874:0.3377:0.1884	.	305	Q9HC52	CBX8_HUMAN	P	305	ENSP00000269385:T305P	ENSP00000269385:T305P	T	-	1	0	CBX8	75383286	0.059000	0.20769	0.000000	0.03702	0.000000	0.00434	0.303000	0.19210	-1.358000	0.02177	-3.859000	0.00018	ACC	CBX8	-	NULL	ENSG00000141570		0.687	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX8	HGNC	protein_coding	OTTHUMT00000318011.1	36	0.00	0	T	NM_020649		77768691	77768691	-1	no_errors	ENST00000269385	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.000	G
CC2D1A	54862	genome.wustl.edu	37	19	14034388	14034388	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:14034388A>C	ENST00000318003.7	+	16	2033	c.1792A>C	c.(1792-1794)Acc>Ccc	p.T598P	CC2D1A_ENST00000589606.1_Missense_Mutation_p.T598P	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	598					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AAACCAATTCACCCAGCTGGG	0.597																																						dbGAP											0													129.0	131.0	131.0					19																	14034388		2063	4218	6281	-	-	-	SO:0001583	missense	0			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1792A>C	19.37:g.14034388A>C	ENSP00000313601:p.Thr598Pro		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.T598P	ENST00000318003.7	37	c.1792	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	A	24.2	4.502805	0.85176	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000397486	T	0.29655	1.56	4.96	4.96	0.65561	.	0.329226	0.30830	N	0.008794	T	0.49830	0.1580	M	0.73217	2.22	0.54753	D	0.999987	P;D;D	0.61080	0.897;0.989;0.981	P;P;P	0.61070	0.493;0.883;0.815	T	0.49418	-0.8942	10	0.40728	T	0.16	-21.3515	13.658	0.62349	1.0:0.0:0.0:0.0	.	220;598;598	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	P	598;221;352	ENSP00000313601:T598P	ENSP00000254346:T221P	T	+	1	0	CC2D1A	13895388	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	6.571000	0.74000	1.875000	0.54330	0.454000	0.30748	ACC	CC2D1A	-	NULL	ENSG00000132024		0.597	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	182	0.00	0	A	NM_017721		14034388	14034388	+1	no_errors	ENST00000318003	ensembl	human	known	69_37n	missense	191	13.96	31	SNP	1.000	C
CCDC108	255101	genome.wustl.edu	37	2	219870847	219870847	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:219870847T>G	ENST00000341552.5	-	31	4901	c.4818A>C	c.(4816-4818)ccA>ccC	p.P1606P	CCDC108_ENST00000441968.1_Silent_p.P1606P|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.P1606P	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1606						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGCGAGGGTGGCTGGGGGC	0.607																																						dbGAP											0													50.0	58.0	56.0					2																	219870847		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4818A>C	2.37:g.219870847T>G			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.P1606	ENST00000341552.5	37	c.4818	CCDS2430.2	2																																																																																			CCDC108	-	NULL	ENSG00000181378		0.607	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	85	0.00	0	T	NM_194302		219870847	219870847	-1	no_errors	ENST00000341552	ensembl	human	known	69_37n	silent	55	22.54	16	SNP	0.000	G
CCDC114	93233	genome.wustl.edu	37	19	48809532	48809532	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:48809532T>G	ENST00000315396.7	-	6	1217	c.535A>C	c.(535-537)Acc>Ccc	p.T179P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	179					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TAGGCAGAGGTGGAGGAGAGG	0.562																																						dbGAP											0													126.0	145.0	139.0					19																	48809532		692	1591	2283	-	-	-	SO:0001583	missense	0			BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.535A>C	19.37:g.48809532T>G	ENSP00000318429:p.Thr179Pro		Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	NULL	p.T179P	ENST00000315396.7	37	c.535	CCDS12714.2	19	.	.	.	.	.	.	.	.	.	.	T	19.30	3.802010	0.70682	.	.	ENSG00000105479	ENST00000315396	T	0.22539	1.95	4.09	3.03	0.35002	.	.	.	.	.	T	0.24160	0.0585	M	0.69358	2.11	0.38862	D	0.956513	D;P	0.53745	0.962;0.899	P;B	0.46110	0.504;0.367	T	0.05194	-1.0900	9	0.46703	T	0.11	-2.209	6.163	0.20373	0.0:0.1319:0.0:0.8681	.	179;179	Q96M63;Q96M63-5	CC114_HUMAN;.	P	179	ENSP00000318429:T179P	ENSP00000318429:T179P	T	-	1	0	CCDC114	53501344	0.692000	0.27719	0.912000	0.35992	0.412000	0.31113	1.828000	0.39111	0.670000	0.31165	0.482000	0.46254	ACC	CCDC114	-	NULL	ENSG00000105479		0.562	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC114	HGNC	protein_coding	OTTHUMT00000343207.1	261	0.75	2	T	NM_144577		48809532	48809532	-1	no_errors	ENST00000315396	ensembl	human	known	69_37n	missense	162	15.54	30	SNP	0.966	G
CCDC155	147872	genome.wustl.edu	37	19	49916250	49916250	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:49916250A>C	ENST00000447857.3	+	16	1500	c.1295A>C	c.(1294-1296)cAc>cCc	p.H432P		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	432						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GAGCCAGCGCACCCTGAAGAA	0.502																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1295A>C	19.37:g.49916250A>C	ENSP00000404220:p.His432Pro		Q96MC3	Missense_Mutation	SNP	NULL	p.H432P	ENST00000447857.3	37	c.1295	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	A	8.771	0.925911	0.18056	.	.	ENSG00000161609	ENST00000447857	T	0.30981	1.51	3.37	-4.8	0.03190	.	1.596650	0.03344	N	0.195169	T	0.26919	0.0659	M	0.63428	1.95	0.09310	N	1	P;P	0.45827	0.867;0.867	B;B	0.38616	0.277;0.277	T	0.38672	-0.9650	10	0.42905	T	0.14	-7.8261	5.5375	0.17020	0.2934:0.3052:0.4014:0.0	.	432;432	C9JGW3;Q8N6L0	.;CC155_HUMAN	P	432	ENSP00000404220:H432P	ENSP00000404220:H432P	H	+	2	0	CCDC155	54608062	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.119000	0.03276	-1.317000	0.02292	-0.451000	0.05528	CAC	CCDC155	-	NULL	ENSG00000161609		0.502	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2	120	0.00	0	A	NM_144688		49916250	49916250	+1	no_errors	ENST00000447857	ensembl	human	known	69_37n	missense	116	13.24	18	SNP	0.000	C
CCDC28A	25901	genome.wustl.edu	37	6	139106480	139106480	+	Missense_Mutation	SNP	A	A	C	rs147073588|rs77141562		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:139106480A>C	ENST00000332797.6	+	4	864	c.709A>C	c.(709-711)Aca>Cca	p.T237P		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	237										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TAAGAGAAAAACAGCCAGTGA	0.383																																						dbGAP											0													95.0	103.0	100.0					6																	139106480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.709A>C	6.37:g.139106480A>C	ENSP00000332716:p.Thr237Pro		E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	NULL	p.T237P	ENST00000332797.6	37	c.709	CCDS5192.1	6	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172686	0.38413	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	T	0.25579	1.79	5.43	-1.13	0.09775	.	1.035910	0.07517	N	0.909962	T	0.11836	0.0288	L	0.59436	1.845	0.09310	N	0.999997	P	0.35821	0.523	B	0.39617	0.305	T	0.35325	-0.9793	10	0.40728	T	0.16	-4.0052	8.2322	0.31605	0.4315:0.1281:0.4404:0.0	.	237	Q8IWP9	CC28A_HUMAN	P	237;124	ENSP00000332716:T237P	ENSP00000026464:T124P	T	+	1	0	CCDC28A	139148173	0.133000	0.22466	0.985000	0.45067	0.993000	0.82548	0.068000	0.14531	-0.445000	0.07159	-0.290000	0.09829	ACA	CCDC28A	-	NULL	ENSG00000024862		0.383	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28A	HGNC	protein_coding	OTTHUMT00000042444.1	171	0.00	0	A	NM_015439		139106480	139106480	+1	no_errors	ENST00000332797	ensembl	human	known	69_37n	missense	104	18.75	24	SNP	0.278	C
CCDC37	348807	genome.wustl.edu	37	3	126155150	126155150	+	Missense_Mutation	SNP	T	T	G	rs377026838		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:126155150T>G	ENST00000352312.1	+	17	1838	c.1739T>G	c.(1738-1740)gTa>gGa	p.V580G	CCDC37_ENST00000393425.1_Missense_Mutation_p.V581G|CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000505024.1_Missense_Mutation_p.V581G	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	580										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGGACACTGGTATGCCGCTCA	0.562																																						dbGAP											0													149.0	137.0	141.0					3																	126155150		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1739T>G	3.37:g.126155150T>G	ENSP00000344749:p.Val580Gly		D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.V581G	ENST00000352312.1	37	c.1742	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	T	8.723	0.914882	0.17907	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.36340	1.26;1.26;1.26	3.94	3.94	0.45596	.	0.260319	0.41712	D	0.000837	T	0.34716	0.0907	L	0.57536	1.79	0.48511	D	0.999667	B;B	0.11235	0.004;0.003	B;B	0.14023	0.01;0.005	T	0.31364	-0.9946	10	0.72032	D	0.01	-15.38	11.0733	0.48016	0.0:0.0:0.0:1.0	.	581;580	Q494V2-2;Q494V2	.;CCD37_HUMAN	G	580;581;581	ENSP00000344749:V580G;ENSP00000377076:V581G;ENSP00000423046:V581G	ENSP00000344749:V580G	V	+	2	0	CCDC37	127637840	0.985000	0.35326	0.473000	0.27253	0.051000	0.14879	5.269000	0.65542	1.781000	0.52344	0.402000	0.26972	GTA	CCDC37	-	NULL	ENSG00000163885		0.562	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	246	0.80	2	T	NM_182628		126155150	126155150	+1	no_errors	ENST00000393425	ensembl	human	known	69_37n	missense	193	13.06	29	SNP	0.942	G
CCDC42B	387885	genome.wustl.edu	37	12	113593185	113593185	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:113593185A>C	ENST00000335621.6	+	6	811	c.811A>C	c.(811-813)Acc>Ccc	p.T271P	Y_RNA_ENST00000363029.1_RNA	NM_001144872.1	NP_001138344.1	A6NFT4	CC42B_HUMAN	coiled-coil domain containing 42B	271																	GCAGCCTCCCACCCTGGACAT	0.592																																						dbGAP											0													61.0	68.0	66.0					12																	113593185		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS44983.1	12q24.13	2014-07-31			ENSG00000186710	ENSG00000186710			37100	protein-coding gene	gene with protein product						23569216	Standard	NM_001144872		Approved	MIA2	uc010sys.2	A6NFT4	OTTHUMG00000169655	ENST00000335621.6:c.811A>C	12.37:g.113593185A>C	ENSP00000333915:p.Thr271Pro			Missense_Mutation	SNP	NULL	p.T271P	ENST00000335621.6	37	c.811	CCDS44983.1	12	.	.	.	.	.	.	.	.	.	.	A	1.379	-0.584076	0.03827	.	.	ENSG00000186710	ENST00000335621	T	0.23147	1.92	3.93	-1.94	0.07571	.	1.607860	0.03680	N	0.245339	T	0.15305	0.0369	N	0.19112	0.55	0.09310	N	1	B	0.30281	0.275	B	0.22601	0.04	T	0.20042	-1.0287	10	0.29301	T	0.29	0.0369	8.2319	0.31603	0.4597:0.0:0.5403:0.0	.	271	A6NFT4	CC42B_HUMAN	P	271	ENSP00000333915:T271P	ENSP00000333915:T271P	T	+	1	0	CCDC42B	112077568	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.476000	0.06591	-0.443000	0.07180	-0.640000	0.03970	ACC	CCDC42B	-	NULL	ENSG00000186710		0.592	CCDC42B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42B	HGNC	protein_coding	OTTHUMT00000405303.1	83	0.00	0	A	NM_001144872		113593185	113593185	+1	no_errors	ENST00000335621	ensembl	human	known	69_37n	missense	40	21.57	11	SNP	0.000	C
CCDC42B	387885	genome.wustl.edu	37	12	113595408	113595408	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:113595408T>G	ENST00000335621.6	+	7	851	c.851T>G	c.(850-852)gTg>gGg	p.V284G	DDX54_ENST00000549271.1_5'Flank|DDX54_ENST00000306014.5_3'UTR|DDX54_ENST00000314045.7_3'UTR|Y_RNA_ENST00000363029.1_RNA	NM_001144872.1	NP_001138344.1	A6NFT4	CC42B_HUMAN	coiled-coil domain containing 42B	284																	CCCCCCCAGGTGAAGCTGTTC	0.677																																						dbGAP											0													31.0	35.0	34.0					12																	113595408		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0				CCDS44983.1	12q24.13	2014-07-31			ENSG00000186710	ENSG00000186710			37100	protein-coding gene	gene with protein product						23569216	Standard	NM_001144872		Approved	MIA2	uc010sys.2	A6NFT4	OTTHUMG00000169655	ENST00000335621.6:c.850-1T>G	12.37:g.113595408T>G				Missense_Mutation	SNP	NULL	p.V284G	ENST00000335621.6	37	c.851	CCDS44983.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.71|15.71	2.912552|2.912552	0.52439|0.52439	.|.	.|.	ENSG00000186710|ENSG00000186710	ENST00000335621|ENST00000550918	T|.	0.33216|.	1.42|.	4.39|4.39	4.39|4.39	0.52855|0.52855	.|.	.|.	.|.	.|.	.|.	T|.	0.61825|.	0.2378|.	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	D|.	0.55800|.	0.973|.	P|.	0.54629|.	0.757|.	T|.	0.60717|.	-0.7208|.	9|.	0.87932|.	D|.	0|.	-30.4075|-30.4075	9.926|9.926	0.41492|0.41492	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	284|.	A6NFT4|.	CC42B_HUMAN|.	G|G	284|114	ENSP00000333915:V284G|.	ENSP00000333915:V284G|.	V|X	+|+	2|1	0|0	CCDC42B|CCDC42B	112079791|112079791	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.327000|0.327000	0.28475|0.28475	1.551000|1.551000	0.36233|0.36233	1.850000|1.850000	0.53721|0.53721	0.402000|0.402000	0.26972|0.26972	GTG|TGA	CCDC42B	-	NULL	ENSG00000186710		0.677	CCDC42B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42B	HGNC	protein_coding	OTTHUMT00000405303.1	62	0.00	0	T	NM_001144872	Missense_Mutation	113595408	113595408	+1	no_errors	ENST00000335621	ensembl	human	known	69_37n	missense	41	25.45	14	SNP	1.000	G
CCDC57	284001	genome.wustl.edu	37	17	80085646	80085646	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:80085646T>G	ENST00000389641.4	-	17	2524	c.2488A>C	c.(2488-2490)Acc>Ccc	p.T830P	CCDC57_ENST00000392347.1_Missense_Mutation_p.T830P|CCDC57_ENST00000392346.2_Missense_Mutation_p.T187P			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	830										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCCTGGAGGGTGCCACTGGCA	0.622																																						dbGAP											0													89.0	95.0	93.0					17																	80085646		2006	4157	6163	-	-	-	SO:0001583	missense	0			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2488A>C	17.37:g.80085646T>G	ENSP00000374292:p.Thr830Pro		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	NULL	p.T830P	ENST00000389641.4	37	c.2488		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.959|3.959	-0.010765|-0.010765	0.07727|0.07727	.|.	.|.	ENSG00000176155|ENSG00000176155	ENST00000392345;ENST00000419322|ENST00000389641;ENST00000392347;ENST00000392346;ENST00000324808	.|T;T;T	.|0.13089	.|3.1;3.1;2.62	4.63|4.63	-1.69|-1.69	0.08186|0.08186	.|.	.|0.700955	.|0.12370	.|N	.|0.474830	T|T	0.04227|0.04227	0.0117|0.0117	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	.|B;B	.|0.09022	.|0.002;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.36016|0.36016	-0.9765|-0.9765	5|10	.|0.32370	.|T	.|0.25	-4.8735|-4.8735	0.1481|0.1481	0.00090|0.00090	0.3623:0.1604:0.1805:0.2968|0.3623:0.1604:0.1805:0.2968	.|.	.|136;830	.|E7ENZ0;Q2TAC2	.|.;CCD57_HUMAN	P|P	68;286|830;830;187;136	.|ENSP00000374292:T830P;ENSP00000376158:T830P;ENSP00000376157:T187P	.|ENSP00000315223:T136P	H|T	-|-	2|1	0|0	CCDC57|CCDC57	77678935|77678935	0.224000|0.224000	0.23674|0.23674	0.019000|0.019000	0.16419|0.16419	0.001000|0.001000	0.01503|0.01503	0.397000|0.397000	0.20883|0.20883	-0.595000|-0.595000	0.05828|0.05828	-2.907000|-2.907000	0.00092|0.00092	CAC|ACC	CCDC57	-	NULL	ENSG00000176155		0.622	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	132	0.75	1	T	NM_198082		80085646	80085646	-1	no_errors	ENST00000389641	ensembl	human	known	69_37n	missense	111	20.14	28	SNP	0.037	G
CCDC88C	440193	genome.wustl.edu	37	14	91749690	91749690	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:91749690T>G	ENST00000389857.6	-	26	4699	c.4613A>C	c.(4612-4614)cAc>cCc	p.H1538P	CCDC88C_ENST00000331194.7_Missense_Mutation_p.H62P	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1538					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)				GCGGCCTGGGTGCCGGGCGAT	0.637																																						dbGAP											0													33.0	41.0	38.0					14																	91749690		1954	4143	6097	-	-	-	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.4613A>C	14.37:g.91749690T>G	ENSP00000374507:p.His1538Pro		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C	p.H1538P	ENST00000389857.6	37	c.4613	CCDS45151.1	14	.	.	.	.	.	.	.	.	.	.	T	7.168	0.587018	0.13749	.	.	ENSG00000015133	ENST00000389857;ENST00000427583;ENST00000331194	T;T	0.45668	2.52;0.89	5.54	1.79	0.24919	.	0.271295	0.26180	U	0.025876	T	0.48205	0.1487	M	0.66939	2.045	0.31139	N	0.706897	D;D	0.64830	0.958;0.994	B;P	0.59703	0.439;0.862	T	0.51787	-0.8661	10	0.48119	T	0.1	-15.8685	1.574	0.02621	0.3731:0.083:0.1369:0.407	.	1538;62	Q9P219;Q9P219-2	DAPLE_HUMAN;.	P	1538;62;62	ENSP00000374507:H1538P;ENSP00000330332:H62P	ENSP00000330332:H62P	H	-	2	0	CCDC88C	90819443	1.000000	0.71417	0.980000	0.43619	0.189000	0.23516	0.715000	0.25822	0.344000	0.23847	0.460000	0.39030	CAC	CCDC88C	-	NULL	ENSG00000015133		0.637	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88C	HGNC	protein_coding	OTTHUMT00000411650.1	147	0.00	0	T	XM_029353		91749690	91749690	-1	no_errors	ENST00000389857	ensembl	human	known	69_37n	missense	120	14.29	20	SNP	0.988	G
CCDC9	26093	genome.wustl.edu	37	19	47773702	47773702	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:47773702A>C	ENST00000221922.6	+	9	1163	c.941A>C	c.(940-942)cAc>cCc	p.H314P		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	314							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAACCATCCCACCGCTATGGT	0.592																																						dbGAP											0													112.0	91.0	98.0					19																	47773702		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.941A>C	19.37:g.47773702A>C	ENSP00000221922:p.His314Pro			Missense_Mutation	SNP	NULL	p.H314P	ENST00000221922.6	37	c.941	CCDS12698.1	19	.	.	.	.	.	.	.	.	.	.	.	12.05	1.822475	0.32237	.	.	ENSG00000105321	ENST00000221922;ENST00000504556	T	0.42513	0.97	4.4	2.07	0.26955	.	0.718554	0.13016	N	0.420463	T	0.34106	0.0886	L	0.57536	1.79	0.09310	N	1	B	0.32620	0.378	B	0.31812	0.136	T	0.19745	-1.0296	10	0.33940	T	0.23	-16.5842	4.892	0.13731	0.4736:0.417:0.1093:0.0	.	314	Q9Y3X0	CCDC9_HUMAN	P	314;296	ENSP00000221922:H314P	ENSP00000221922:H314P	H	+	2	0	CCDC9	52465542	0.000000	0.05858	0.002000	0.10522	0.503000	0.33858	0.240000	0.18042	0.673000	0.31224	0.397000	0.26171	CAC	CCDC9	-	NULL	ENSG00000105321		0.592	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC9	HGNC	protein_coding	OTTHUMT00000466917.1	137	0.71	1	A	NM_015603		47773702	47773702	+1	no_errors	ENST00000221922	ensembl	human	known	69_37n	missense	173	14.08	29	SNP	0.000	C
CCER1	196477	genome.wustl.edu	37	12	91347900	91347900	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:91347900A>C	ENST00000358859.2	-	1	1053	c.620T>G	c.(619-621)gTg>gGg	p.V207G	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	207																	CTGACGCTCCACCTTCTCCTG	0.652																																						dbGAP											0													82.0	85.0	84.0					12																	91347900		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.620T>G	12.37:g.91347900A>C	ENSP00000351727:p.Val207Gly		Q8TC47	Missense_Mutation	SNP	NULL	p.V207G	ENST00000358859.2	37	c.620	CCDS9036.1	12	.	.	.	.	.	.	.	.	.	.	A	9.756	1.168810	0.21621	.	.	ENSG00000197651	ENST00000358859	T	0.35048	1.33	4.46	0.249	0.15531	.	0.736341	0.10572	N	0.659031	T	0.17066	0.0410	N	0.08118	0	0.26232	N	0.979005	B	0.10296	0.003	B	0.04013	0.001	T	0.20140	-1.0284	10	0.59425	D	0.04	-6.5577	4.8551	0.13555	0.5436:0.0:0.0941:0.3624	.	207	Q8TC90	CL012_HUMAN	G	207	ENSP00000351727:V207G	ENSP00000351727:V207G	V	-	2	0	C12orf12	89872031	0.276000	0.24211	0.999000	0.59377	0.123000	0.20343	-0.100000	0.10990	0.214000	0.20742	0.379000	0.24179	GTG	CCER1	-	NULL	ENSG00000197651		0.652	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2	59	0.00	0	A	NM_152638		91347900	91347900	-1	no_errors	ENST00000358859	ensembl	human	known	69_37n	missense	58	20.27	15	SNP	0.996	C
CCNL2	81669	genome.wustl.edu	37	1	1322639	1322639	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:1322639T>G	ENST00000400809.3	-	11	1540	c.1535A>C	c.(1534-1536)cAc>cCc	p.H512P	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.H290P	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	512					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GTGCCCAGGGTGGTCCCGCTC	0.597																																						dbGAP											0													116.0	122.0	120.0					1																	1322639		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF251294	CCDS30557.1, CCDS30558.1	1p36.33	2014-07-03			ENSG00000221978	ENSG00000221978			20570	protein-coding gene	gene with protein product	"""cyclin S"""	613482	"""cyclin M"""	CCNM		14725631	Standard	NM_030937		Approved	ania-6b, PCEE, SB138, HLA-ISO, CCNS	uc001afi.2	Q96S94	OTTHUMG00000002917	ENST00000400809.3:c.1535A>C	1.37:g.1322639T>G	ENSP00000383611:p.His512Pro		A8K8A3|B1B152|Q5T2N5|Q5T2N6|Q6IQ12|Q7Z4Z8|Q8N3C9|Q8N3D5|Q8NHE3|Q8TEL0|Q96B00	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.H512P	ENST00000400809.3	37	c.1535	CCDS30557.1	1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.677564	0.68042	.	.	ENSG00000221978	ENST00000400809;ENST00000408952	T	0.40756	1.02	5.38	3.04	0.35103	.	0.160894	0.43747	D	0.000526	T	0.56920	0.2018	M	0.73962	2.25	0.39816	D	0.972771	D	0.67145	0.996	D	0.66716	0.946	T	0.56329	-0.7997	10	0.51188	T	0.08	.	6.5927	0.22656	0.1376:0.0744:0.0:0.788	.	512	Q96S94	CCNL2_HUMAN	P	512;339	ENSP00000383611:H512P	ENSP00000383611:H512P	H	-	2	0	CCNL2	1312502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.521000	0.45563	0.475000	0.27415	0.528000	0.53228	CAC	CCNL2	-	pirsf_Cyclin_L	ENSG00000221978		0.597	CCNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL2	HGNC	protein_coding	OTTHUMT00000008146.2	95	1.00	1	T	NM_030937		1322639	1322639	-1	no_errors	ENST00000400809	ensembl	human	known	69_37n	missense	68	15.85	13	SNP	1.000	G
CCR3	1232	genome.wustl.edu	37	3	46306905	46306905	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:46306905A>C	ENST00000357422.2	+	4	799	c.256A>C	c.(256-258)Acc>Ccc	p.T86P	CCR3_ENST00000395942.2_Missense_Mutation_p.T86P|CCR3_ENST00000395940.2_Missense_Mutation_p.T86P|CCR3_ENST00000545097.1_Missense_Mutation_p.T107P|CCR3_ENST00000541018.1_Missense_Mutation_p.T86P			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	86					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)		CTTCCTCGTCACCCTTCCATT	0.498																																						dbGAP											0													183.0	164.0	171.0					3																	46306905		2203	4300	6503	-	-	-	SO:0001583	missense	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.256A>C	3.37:g.46306905A>C	ENSP00000350003:p.Thr86Pro		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	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.T107P	ENST00000357422.2	37	c.319	CCDS2738.1	3	.	.	.	.	.	.	.	.	.	.	A	15.66	2.899478	0.52227	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.096476	0.43747	D	0.000533	D	0.87826	0.6275	M	0.93854	3.465	0.41012	D	0.985011	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.89625	0.3851	10	0.87932	D	0	.	6.7701	0.23589	0.6313:0.1409:0.0:0.2278	.	107;86	F5GWL6;P51677	.;CCR3_HUMAN	P	86;107;86;86;86	ENSP00000350003:T86P;ENSP00000441600:T107P;ENSP00000440097:T86P;ENSP00000379271:T86P;ENSP00000379273:T86P	ENSP00000350003:T86P	T	+	1	0	CCR3	46281909	0.020000	0.18652	0.739000	0.30968	0.493000	0.33554	0.342000	0.19926	2.326000	0.78906	0.533000	0.62120	ACC	CCR3	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_P2_purnocptor	ENSG00000183625		0.498	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	HGNC	protein_coding	OTTHUMT00000257380.2	125	0.00	0	A			46306905	46306905	+1	no_errors	ENST00000545097	ensembl	human	known	69_37n	missense	89	19.47	22	SNP	0.874	C
CCS	9973	genome.wustl.edu	37	11	66366987	66366987	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:66366987T>G	ENST00000533244.1	+	4	749	c.308T>G	c.(307-309)gTg>gGg	p.V103G	CCS_ENST00000310190.4_Missense_Mutation_p.V84G	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	103	Superoxide dismutase-like.				copper ion transmembrane transport (GO:0035434)|intracellular copper ion transport (GO:0015680)|positive regulation of oxidoreductase activity (GO:0051353)|removal of superoxide radicals (GO:0019430)|superoxide metabolic process (GO:0006801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|protein disulfide oxidoreductase activity (GO:0015035)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						CAGGGGGTGGTGCGCTTCCTA	0.637																																						dbGAP											0													31.0	30.0	31.0					11																	66366987		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF002210	CCDS8146.1	11q13.2	2012-09-20			ENSG00000173992	ENSG00000173992			1613	protein-coding gene	gene with protein product		603864				9295278	Standard	NM_005125		Approved		uc001oir.3	O14618	OTTHUMG00000167238	ENST00000533244.1:c.308T>G	11.37:g.66366987T>G	ENSP00000436318:p.Val103Gly		Q2M366|Q8NEV0	Missense_Mutation	SNP	pfam_SOD_Cu_Zn_dom,pfam_HeavyMe-assoc_HMA,superfamily_SOD_Cu_Zn_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_SOD_Cu_Zn_dom	p.V103G	ENST00000533244.1	37	c.308	CCDS8146.1	11	.	.	.	.	.	.	.	.	.	.	T	25.0	4.590781	0.86851	.	.	ENSG00000173992	ENST00000533244;ENST00000310190	T;T	0.59364	0.27;0.27	5.01	5.01	0.66863	Superoxide dismutase, copper/zinc binding domain (3);	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	H	0.98178	4.165	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88171	0.2864	10	0.87932	D	0	.	11.0297	0.47765	0.0:0.0:0.0:1.0	.	103	O14618	CCS_HUMAN	G	103;84	ENSP00000436318:V103G;ENSP00000307870:V84G	ENSP00000307870:V84G	V	+	2	0	CCS	66123563	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	7.364000	0.79526	2.113000	0.64589	0.533000	0.62120	GTG	CCS	-	pfam_SOD_Cu_Zn_dom,superfamily_SOD_Cu_Zn_dom	ENSG00000173992		0.637	CCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCS	HGNC	protein_coding	OTTHUMT00000393826.1	41	0.00	0	T	NM_005125		66366987	66366987	+1	no_errors	ENST00000533244	ensembl	human	known	69_37n	missense	14	39.13	9	SNP	0.998	G
CCT8	10694	genome.wustl.edu	37	21	30428850	30428850	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:30428850A>C	ENST00000286788.4	-	15	1799	c.1593T>G	c.(1591-1593)ggT>ggG	p.G531G	CCT8_ENST00000542732.1_Silent_p.G512G|CCT8_ENST00000540844.1_Silent_p.G458G|AF129075.5_ENST00000457162.2_RNA|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	531					'de novo' posttranslational protein folding (GO:0051084)|ATP catabolic process (GO:0006200)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	aggresome (GO:0016235)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GCTTGGGCCCACCAGCTGGTT	0.383																																						dbGAP											0													95.0	88.0	90.0					21																	30428850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z37163	CCDS33528.1, CCDS68180.1	21q21.3	2011-09-02			ENSG00000156261	ENSG00000156261		"""Heat Shock Proteins / Chaperonins"""	1623	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 112"""	C21orf112		7890169	Standard	NM_006585		Approved	Cctq, PRED71	uc002ynb.3	P50990	OTTHUMG00000044595	ENST00000286788.4:c.1593T>G	21.37:g.30428850A>C			A6NN54|B4DEM7|B4DQH4|Q4VBP8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.W90G	ENST00000286788.4	37	c.268	CCDS33528.1	21	.	.	.	.	.	.	.	.	.	.	A	9.937	1.216333	0.22373	.	.	ENSG00000156261	ENST00000432178	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	T	0.61652	0.2364	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60581	-0.7235	4	.	.	.	-22.2218	10.2153	0.43164	0.9267:0.0:0.0733:0.0	.	.	.	.	G	90	.	.	W	-	1	0	CCT8	29350721	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.167000	0.42415	2.333000	0.79357	0.533000	0.62120	TGG	CCT8	-	NULL	ENSG00000156261		0.383	CCT8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8	HGNC	protein_coding	OTTHUMT00000171822.1	142	0.69	1	A			30428850	30428850	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000432178	ensembl	human	putative	69_37n	missense	156	17.02	32	SNP	1.000	C
CD101	9398	genome.wustl.edu	37	1	117552610	117552610	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:117552610A>C	ENST00000256652.4	+	2	240	c.182A>C	c.(181-183)tAc>tCc	p.Y61S	CD101_ENST00000369470.1_Missense_Mutation_p.Y61S	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	61	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGGTCTGTTTACCTGCCGACA	0.532																																						dbGAP											0													107.0	94.0	99.0					1																	117552610		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.182A>C	1.37:g.117552610A>C	ENSP00000256652:p.Tyr61Ser		Q15856	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Y61S	ENST00000256652.4	37	c.182	CCDS891.1	1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797016	0.70567	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.63744	-0.06;-0.06	5.79	5.79	0.91817	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.087524	0.49916	D	0.000128	T	0.69806	0.3152	L	0.59436	1.845	0.49582	D	0.9998	D	0.89917	1.0	D	0.91635	0.999	T	0.73126	-0.4081	10	0.56958	D	0.05	-21.9841	14.0875	0.64968	1.0:0.0:0.0:0.0	.	61	Q93033	IGSF2_HUMAN	S	61	ENSP00000256652:Y61S;ENSP00000358482:Y61S	ENSP00000256652:Y61S	Y	+	2	0	CD101	117354133	1.000000	0.71417	1.000000	0.80357	0.588000	0.36517	6.768000	0.74980	2.207000	0.71202	0.533000	0.62120	TAC	CD101	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000134256		0.532	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1	146	0.00	0	A	NM_004258		117552610	117552610	+1	no_errors	ENST00000256652	ensembl	human	known	69_37n	missense	72	19.10	17	SNP	1.000	C
CD163L1	283316	genome.wustl.edu	37	12	7559368	7559368	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:7559368A>C	ENST00000313599.3	-	5	904	c.847T>G	c.(847-849)Tgg>Ggg	p.W283G	CD163L1_ENST00000416109.2_Missense_Mutation_p.W293G|CD163L1_ENST00000396630.1_Missense_Mutation_p.W283G			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	283	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACGGTCCCCCACCTTCCTTGG	0.483																																						dbGAP											0													265.0	221.0	236.0					12																	7559368		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.847T>G	12.37:g.7559368A>C	ENSP00000315945:p.Trp283Gly		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.W283G	ENST00000313599.3	37	c.847	CCDS8577.1	12	.	.	.	.	.	.	.	.	.	.	A	19.01	3.744613	0.69418	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.55052	0.54;0.54;0.54	1.88	1.88	0.25563	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.77110	0.4082	H	0.96398	3.815	0.37054	D	0.897734	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80951	-0.1153	9	0.66056	D	0.02	.	7.7011	0.28623	1.0:0.0:0.0:0.0	.	293;283	E7EVK4;Q9NR16	.;C163B_HUMAN	G	283;293;283	ENSP00000315945:W283G;ENSP00000393474:W293G;ENSP00000379871:W283G	ENSP00000315945:W283G	W	-	1	0	CD163L1	7450635	1.000000	0.71417	0.070000	0.20053	0.876000	0.50452	5.264000	0.65513	1.100000	0.41517	0.377000	0.23210	TGG	CD163L1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000177675		0.483	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	242	0.41	1	A	NM_174941		7559368	7559368	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	missense	288	11.62	38	SNP	0.983	C
CD244	51744	genome.wustl.edu	37	1	160808898	160808898	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:160808898A>C	ENST00000368033.3	-	4	753				CD244_ENST00000322302.7_Intron|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368034.4_Intron|CD244_ENST00000368032.2_Intron			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTTCCTTCCCACCTGCCTGCT	0.498																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.671-59T>G	1.37:g.160808898A>C			Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	RNA	SNP	-	NULL	ENST00000368033.3	37	NULL	CCDS53399.1	1																																																																																			CD244	-	-	ENSG00000122223		0.498	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	HGNC	protein_coding	OTTHUMT00000071469.1	59	0.00	0	A	NM_016382		160808898	160808898	-1	no_errors	ENST00000481677	ensembl	human	known	69_37n	rna	101	25.19	34	SNP	0.000	C
CD248	57124	genome.wustl.edu	37	11	66082606	66082606	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:66082606T>G	ENST00000311330.3	-	1	1909	c.1893A>C	c.(1891-1893)tcA>tcC	p.S631S	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	631	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GGCTGATGGGTGAGGTCTGGT	0.637																																						dbGAP											0													41.0	49.0	46.0					11																	66082606		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1893A>C	11.37:g.66082606T>G			Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	pfam_C-type_lectin,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_C-type_lectin	p.S631	ENST00000311330.3	37	c.1893	CCDS8134.1	11																																																																																			CD248	-	NULL	ENSG00000174807		0.637	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD248	HGNC	protein_coding	OTTHUMT00000392922.2	112	0.00	0	T	NM_020404		66082606	66082606	-1	no_errors	ENST00000311330	ensembl	human	known	69_37n	silent	81	19.61	20	SNP	0.000	G
CD248	57124	genome.wustl.edu	37	11	66082665	66082665	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:66082665T>G	ENST00000311330.3	-	1	1850	c.1834A>C	c.(1834-1836)Acc>Ccc	p.T612P	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	612	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GCGGGCTGGGTGGCAGCAGGC	0.627																																						dbGAP											0													78.0	93.0	88.0					11																	66082665		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1834A>C	11.37:g.66082665T>G	ENSP00000308117:p.Thr612Pro		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_EGF-like_Ca-bd,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_C-type_lectin	p.T612P	ENST00000311330.3	37	c.1834	CCDS8134.1	11	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397985	0.42512	.	.	ENSG00000174807	ENST00000311330	D	0.88046	-2.33	3.97	-0.302	0.12796	.	14.365900	0.01105	U	0.005477	T	0.80221	0.4583	L	0.29908	0.895	0.23524	N	0.997495	B	0.17852	0.024	B	0.17979	0.02	T	0.64114	-0.6483	10	0.46703	T	0.11	-5.5616	4.9302	0.13914	0.3156:0.0:0.163:0.5213	.	612	Q9HCU0	CD248_HUMAN	P	612	ENSP00000308117:T612P	ENSP00000308117:T612P	T	-	1	0	CD248	65839241	0.998000	0.40836	0.992000	0.48379	0.782000	0.44232	0.402000	0.20965	0.090000	0.17273	0.377000	0.23210	ACC	CD248	-	NULL	ENSG00000174807		0.627	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD248	HGNC	protein_coding	OTTHUMT00000392922.2	184	0.00	0	T	NM_020404		66082665	66082665	-1	no_errors	ENST00000311330	ensembl	human	known	69_37n	missense	153	19.27	37	SNP	1.000	G
CD27	939	genome.wustl.edu	37	12	6559987	6559987	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:6559987T>G	ENST00000266557.3	+	5	767				CD27-AS1_ENST00000545339.1_RNA|TAPBPL_ENST00000544021.1_5'Flank|CD27-AS1_ENST00000399492.2_RNA|CD27_ENST00000541233.1_Intron|TAPBPL_ENST00000266556.7_5'Flank	NM_001242.4	NP_001233	P26842	CD27_HUMAN	CD27 molecule						cell surface receptor signaling pathway (GO:0007166)|extrinsic apoptotic signaling pathway (GO:0097191)|immunoglobulin mediated immune response (GO:0016064)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of JNK cascade (GO:0046330)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|response to ethanol (GO:0045471)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						AGAGGCAAGGTGACAGGAGGG	0.577																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M63928	CCDS8545.1	12p13	2014-09-17	2006-10-27	2006-10-27	ENSG00000139193	ENSG00000139193		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11922	protein-coding gene	gene with protein product		186711	"""tumor necrosis factor receptor superfamily, member 7"""	TNFRSF7		2442250, 8530100	Standard	NM_001242		Approved	S152, Tp55	uc001qod.3	P26842	OTTHUMG00000168316	ENST00000266557.3:c.539-74T>G	12.37:g.6559987T>G			B2RDZ0	RNA	SNP	-	NULL	ENST00000266557.3	37	NULL	CCDS8545.1	12																																																																																			CD27-AS1	-	-	ENSG00000215039		0.577	CD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD27-AS1	HGNC	protein_coding	OTTHUMT00000399258.1	108	0.00	0	T			6559987	6559987	-1	no_errors	ENST00000535639	ensembl	human	known	69_37n	rna	92	17.12	19	SNP	0.000	G
CD300E	342510	genome.wustl.edu	37	17	72613436	72613436	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:72613436A>C	ENST00000328630.3	-	2	249	c.209T>G	c.(208-210)gTg>gGg	p.V70G	CD300E_ENST00000392619.1_Missense_Mutation_p.V97G|CD300E_ENST00000426295.2_Missense_Mutation_p.V111G			Q496F6	CLM2_HUMAN	CD300e molecule	70	Ig-like V-type.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						ATTCCTCTCCACCTTCTCTTC	0.522																																						dbGAP											0													257.0	165.0	196.0					17																	72613436		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648376	CCDS11702.1	17q25.1	2013-01-11	2006-03-28	2006-02-22	ENSG00000186407	ENSG00000186407		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	28874	protein-coding gene	gene with protein product		609801	"""CD300 antigen like family member E"", ""CD300e antigen"""	CD300LE		15549731, 15557162	Standard	NM_181449		Approved	IREM2, CLM2	uc002jlb.2	Q496F6	OTTHUMG00000067605	ENST00000328630.3:c.209T>G	17.37:g.72613436A>C	ENSP00000329942:p.Val70Gly		B4DNS1|Q7Z7I3	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.V111G	ENST00000328630.3	37	c.332	CCDS11702.1	17	.	.	.	.	.	.	.	.	.	.	A	10.86	1.470291	0.26423	.	.	ENSG00000186407	ENST00000392619;ENST00000426295;ENST00000328630;ENST00000412268	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	4.89	1.21	0.21127	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.638474	0.13335	N	0.395599	T	0.45337	0.1337	N	0.04880	-0.145	0.09310	N	1	P	0.43231	0.801	P	0.48063	0.565	T	0.35450	-0.9788	10	0.44086	T	0.13	-6.9932	8.2847	0.31922	0.4858:0.0:0.0:0.5142	.	70	Q496F6	CLM2_HUMAN	G	97;111;70;72	ENSP00000376395:V97G;ENSP00000416642:V111G;ENSP00000329942:V70G;ENSP00000415488:V72G	ENSP00000329942:V70G	V	-	2	0	CD300E	70125031	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.026000	0.13599	0.044000	0.15775	-0.649000	0.03915	GTG	CD300E	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000186407		0.522	CD300E-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300E	HGNC	protein_coding		158	0.63	1	A	NM_181449		72613436	72613436	-1	no_errors	ENST00000426295	ensembl	human	known	69_37n	missense	116	13.97	19	SNP	0.000	C
CD34	947	genome.wustl.edu	37	1	208061239	208061239	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:208061239A>C	ENST00000310833.7	-	8	1323	c.1002T>G	c.(1000-1002)ggT>ggG	p.G334G	CD34_ENST00000356522.4_3'UTR|CD34_ENST00000485761.1_Intron|CD34_ENST00000537704.1_Silent_p.G199G|CD34_ENST00000367036.3_Silent_p.G176G	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	334					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CCTGGCCTCCACCGTTTTCCG	0.572																																						dbGAP											0													53.0	46.0	48.0					1																	208061239		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.1002T>G	1.37:g.208061239A>C			A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Silent	SNP	pfam_CD34/Podocalyxin,prints_CD34	p.G334	ENST00000310833.7	37	c.1002	CCDS31011.1	1																																																																																			CD34	-	pfam_CD34/Podocalyxin,prints_CD34	ENSG00000174059		0.572	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD34	HGNC	protein_coding	OTTHUMT00000088933.1	101	0.98	1	A	NM_001773		208061239	208061239	-1	no_errors	ENST00000310833	ensembl	human	known	69_37n	silent	153	10.47	18	SNP	1.000	C
CD72	971	genome.wustl.edu	37	9	35616642	35616642	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:35616642T>G	ENST00000396757.1	-	5	471	c.307A>C	c.(307-309)Acc>Ccc	p.T103P	CD72_ENST00000378431.1_Missense_Mutation_p.T103P|CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.T103P			P21854	CD72_HUMAN	CD72 molecule	103					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGGCAGGTGAGGAGCAGG	0.597																																						dbGAP											0													107.0	79.0	89.0					9																	35616642		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.307A>C	9.37:g.35616642T>G	ENSP00000379980:p.Thr103Pro			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T103P	ENST00000396757.1	37	c.307	CCDS6581.1	9	.	.	.	.	.	.	.	.	.	.	T	14.49	2.550546	0.45383	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633;ENST00000378431	T;T;T	0.62498	0.02;0.02;0.02	4.58	2.17	0.27698	.	0.701731	0.13309	N	0.397665	T	0.69700	0.3140	M	0.67953	2.075	0.20975	N	0.999815	P;D;D	0.89917	0.95;1.0;1.0	P;D;D	0.69307	0.735;0.963;0.963	T	0.57142	-0.7862	10	0.52906	T	0.07	-4.0656	1.7361	0.02942	0.1673:0.0952:0.1737:0.5638	.	103;103;103	Q5T4Q8;Q5TLG3;P21854	.;.;CD72_HUMAN	P	103	ENSP00000379980:T103P;ENSP00000259633:T103P;ENSP00000367688:T103P	ENSP00000259633:T103P	T	-	1	0	CD72	35606642	0.260000	0.24053	0.998000	0.56505	0.249000	0.25844	-0.197000	0.09518	0.225000	0.20959	0.459000	0.35465	ACC	CD72	-	NULL	ENSG00000137101		0.597	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD72	HGNC	protein_coding	OTTHUMT00000052336.1	138	0.71	1	T	NM_001782		35616642	35616642	-1	no_errors	ENST00000259633	ensembl	human	known	69_37n	missense	84	17.65	18	SNP	0.997	G
CD79B	974	genome.wustl.edu	37	17	62007542	62007542	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:62007542T>G	ENST00000006750.3	-	3	414	c.322A>C	c.(322-324)Acc>Ccc	p.T108P	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Missense_Mutation_p.T109P	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	108	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CCTTGGATGGTGAGGGTGGCG	0.577			"""Mis, O"""		DLBCL																																	dbGAP		Dom	yes		17	17q23	974	"""CD79b molecule, immunoglobulin-associated beta"""		L	0													158.0	130.0	140.0					17																	62007542		2203	4300	6503	-	-	-	SO:0001583	missense	0			L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.322A>C	17.37:g.62007542T>G	ENSP00000006750:p.Thr108Pro		Q53FS2|Q9BU06	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like	p.T109P	ENST00000006750.3	37	c.325	CCDS11655.1	17	.	.	.	.	.	.	.	.	.	.	T	13.85	2.360242	0.41801	.	.	ENSG00000007312	ENST00000392795;ENST00000006750	T;T	0.69685	-0.42;-0.42	5.71	3.52	0.40303	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.346020	0.33005	N	0.005387	T	0.79221	0.4409	M	0.88450	2.955	0.80722	D	1	D	0.61080	0.989	P	0.59703	0.862	T	0.78455	-0.2197	10	0.72032	D	0.01	-13.6385	7.3474	0.26670	0.0:0.173:0.0:0.827	.	108	P40259	CD79B_HUMAN	P	109;108	ENSP00000376544:T109P;ENSP00000006750:T108P	ENSP00000006750:T108P	T	-	1	0	CD79B	59361274	1.000000	0.71417	0.890000	0.34922	0.006000	0.05464	1.149000	0.31626	0.454000	0.26884	-0.379000	0.06801	ACC	CD79B	-	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	ENSG00000007312		0.577	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD79B	HGNC	protein_coding	OTTHUMT00000417711.1	148	0.00	0	T			62007542	62007542	-1	no_errors	ENST00000392795	ensembl	human	known	69_37n	missense	182	15.74	34	SNP	0.987	G
CD99	4267	genome.wustl.edu	37	X	2638451	2638451	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:2638451A>C	ENST00000381192.3	+	5	430	c.248A>C	c.(247-249)cAc>cCc	p.H83P	CD99_ENST00000381184.1_Missense_Mutation_p.H83P|CD99_ENST00000381187.3_Missense_Mutation_p.H67P|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	83					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						AACCCCAACCACCCTAGTTCC	0.473																																						dbGAP											0													463.0	450.0	454.0					X																	2638451		2203	4296	6499	-	-	-	SO:0001583	missense	0			M16279	CCDS14119.1, CCDS48071.1, CCDS75947.1	Xp22.32 and Yp11.3	2012-10-02	2006-03-28	2003-02-14	ENSG00000002586	ENSG00000002586		"""Pseudoautosomal regions / PAR1"", ""CD molecules"""	7082	protein-coding gene	gene with protein product		313470, 450000	"""antigen identified by monoclonal antibodies 12E7, F21 and O13"", ""CD99 antigen"""	MIC2			Standard	NM_001122898		Approved		uc004cqm.3	P14209	OTTHUMG00000021073	ENST00000381192.3:c.248A>C	X.37:g.2638451A>C	ENSP00000370588:p.His83Pro		A6NIW1|O00518|Q6ICV7	Missense_Mutation	SNP	pfam_CD99L2	p.H83P	ENST00000381192.3	37	c.248	CCDS14119.1	X	.	.	.	.	.	.	.	.	.	.	a	0.145	-1.098229	0.01843	.	.	ENSG00000002586	ENST00000381192;ENST00000381187;ENST00000381184;ENST00000449611	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	1.11	-0.176	0.13311	.	0.399584	0.15140	U	0.278330	T	0.06096	0.0158	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.36407	-0.9749	10	0.19590	T	0.45	.	3.7504	0.08565	0.5997:0.4002:0.0:0.0	.	67;83;83	A6NIW1;B2R932;P14209	.;.;CD99_HUMAN	P	83;67;83;126	ENSP00000370588:H83P;ENSP00000370582:H67P;ENSP00000370579:H83P;ENSP00000405544:H126P	ENSP00000370579:H83P	H	+	2	0	CD99	2648451	0.003000	0.15002	0.002000	0.10522	0.009000	0.06853	1.568000	0.36418	-0.111000	0.12001	-1.042000	0.02369	CAC	CD99	-	pfam_CD99L2	ENSG00000002586		0.473	CD99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD99	HGNC	protein_coding	OTTHUMT00000055624.1	773	0.26	2	A	NM_001122898		2638451	2638451	+1	no_errors	ENST00000381192	ensembl	human	known	69_37n	missense	699	11.93	95	SNP	0.002	C
CDC23	8697	genome.wustl.edu	37	5	137524717	137524717	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:137524717T>G	ENST00000394886.2	-	16	1774	c.1744A>C	c.(1744-1746)Acc>Ccc	p.T582P		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	582					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CGTGTGGGGGTATTGTTAGCA	0.502																																						dbGAP											0													177.0	163.0	168.0					5																	137524717		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1744A>C	5.37:g.137524717T>G	ENSP00000378350:p.Thr582Pro		A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	pfam_APC8,pfam_TPR-1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T582P	ENST00000394886.2	37	c.1744	CCDS4200.2	5	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699419	0.68501	.	.	ENSG00000094880	ENST00000394886	T	0.52057	0.68	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.44201	0.1282	L	0.47716	1.5	0.80722	D	1	B	0.15930	0.015	B	0.11329	0.006	T	0.37361	-0.9709	10	0.59425	D	0.04	-15.6151	15.3818	0.74664	0.0:0.0:0.0:1.0	.	582	Q9UJX2	CDC23_HUMAN	P	582	ENSP00000378350:T582P	ENSP00000378350:T582P	T	-	1	0	CDC23	137552616	1.000000	0.71417	0.983000	0.44433	0.949000	0.60115	7.318000	0.79029	2.225000	0.72522	0.379000	0.24179	ACC	CDC23	-	NULL	ENSG00000094880		0.502	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC23	HGNC	protein_coding	OTTHUMT00000251275.2	323	0.61	2	T			137524717	137524717	-1	no_errors	ENST00000394886	ensembl	human	known	69_37n	missense	202	13.30	31	SNP	1.000	G
CDC45	8318	genome.wustl.edu	37	22	19484919	19484919	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:19484919T>G	ENST00000407835.1	+	9	858	c.602T>G	c.(601-603)gTg>gGg	p.V201G	CDC45_ENST00000437685.2_Missense_Mutation_p.V233G|CDC45_ENST00000404724.3_Missense_Mutation_p.V155G|CDC45_ENST00000263201.1_Missense_Mutation_p.V201G			O75419	CDC45_HUMAN	cell division cycle 45	201					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|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)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCAGCCATGGTGATGTTTGAG	0.567																																						dbGAP											0													225.0	175.0	192.0					22																	19484919		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.602T>G	22.37:g.19484919T>G	ENSP00000385240:p.Val201Gly		B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Missense_Mutation	SNP	pfam_CDC45	p.V233G	ENST00000407835.1	37	c.698	CCDS13762.1	22	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242208	0.79912	.	.	ENSG00000093009	ENST00000407835;ENST00000437685;ENST00000263201;ENST00000404724	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	5.51	5.51	0.81932	.	0.156175	0.56097	D	0.000027	T	0.45498	0.1345	M	0.70275	2.135	0.80722	D	1	P;B;P;P;P	0.44734	0.603;0.316;0.723;0.842;0.595	P;B;P;P;P	0.54401	0.545;0.351;0.565;0.751;0.565	T	0.43653	-0.9378	10	0.66056	D	0.02	-20.2134	15.2984	0.73928	0.0:0.0:0.0:1.0	.	233;196;155;233;201	E9PDH7;B4E092;B4DDB4;B4DDU3;O75419	.;.;.;.;CDC45_HUMAN	G	201;233;201;155	ENSP00000385240:V201G;ENSP00000405726:V233G;ENSP00000263201:V201G;ENSP00000384978:V155G	ENSP00000263201:V201G	V	+	2	0	CDC45	17864919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.280000	0.78610	2.068000	0.61886	0.533000	0.62120	GTG	CDC45	-	pfam_CDC45	ENSG00000093009		0.567	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CDC45	HGNC	protein_coding	OTTHUMT00000317903.1	153	0.64	1	T	NM_003504		19484919	19484919	+1	no_errors	ENST00000437685	ensembl	human	known	69_37n	missense	151	11.05	19	SNP	1.000	G
CDH23	64072	genome.wustl.edu	37	10	73551041	73551041	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:73551041A>C	ENST00000224721.6	+	46	6222	c.6217A>C	c.(6217-6219)Acc>Ccc	p.T2073P		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2068	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAACCGGCCCACCTTTAGCCC	0.632																																						dbGAP											0													64.0	70.0	68.0					10																	73551041		2174	4275	6449	-	-	-	SO:0001583	missense	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6217A>C	10.37:g.73551041A>C	ENSP00000224721:p.Thr2073Pro		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T2071P	ENST00000224721.6	37	c.6211		10	.	.	.	.	.	.	.	.	.	.	A	16.64	3.178461	0.57692	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.63	5.63	0.86233	Cadherin (2);Cadherin-like (1);	0.141869	0.48767	D	0.000171	T	0.60366	0.2263	M	0.64997	1.995	0.80722	D	1	P	0.47253	0.892	P	0.49597	0.616	T	0.60924	-0.7166	9	0.36615	T	0.2	.	8.459	0.32917	0.8851:0.0:0.1149:0.0	.	2068	Q9H251	CAD23_HUMAN	P	2073;2068;2071	.	ENSP00000224721:T2073P	T	+	1	0	CDH23	73221047	0.171000	0.23029	1.000000	0.80357	0.365000	0.29674	2.126000	0.42026	2.142000	0.66516	0.374000	0.22700	ACC	CDH23	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000107736		0.632	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	113	0.00	0	A	NM_052836		73551041	73551041	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	missense	85	14.14	14	SNP	1.000	C
CDHR1	92211	genome.wustl.edu	37	10	85968079	85968079	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:85968079A>C	ENST00000372117.3	+	11	1216	c.1113A>C	c.(1111-1113)ccA>ccC	p.P371P	CDHR1_ENST00000440770.2_Silent_p.P130P|CDHR1_ENST00000332904.3_Silent_p.P371P	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	371	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATGAGCACCCACCCCAGGGAG	0.562																																						dbGAP											0													77.0	74.0	75.0					10																	85968079		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1113A>C	10.37:g.85968079A>C			Q69YZ8|Q8IXY5	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P371	ENST00000372117.3	37	c.1113	CCDS7372.1	10																																																																																			CDHR1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000148600		0.562	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	136	0.00	0	A	NM_033100		85968079	85968079	+1	no_errors	ENST00000372117	ensembl	human	known	69_37n	silent	80	18.18	18	SNP	0.037	C
CDHR2	54825	genome.wustl.edu	37	5	176002429	176002429	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:176002429T>G	ENST00000510636.1	+	9	1042		c.e9+2		CDHR2_ENST00000261944.5_Splice_Site|CDHR2_ENST00000506348.1_Splice_Site	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCAGCCAAGGTGCACGGGGGA	0.632																																						dbGAP											0													73.0	76.0	75.0					5																	176002429		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.768+2T>G	5.37:g.176002429T>G			A1L3U4|A6NC80|Q9NXP8	Splice_Site	SNP	-	e8+2	ENST00000510636.1	37	c.768+2	CCDS34297.1	5	.	.	.	.	.	.	.	.	.	.	T	6.287	0.421034	0.11928	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	.	.	.	4.32	3.12	0.35913	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3474	0.38118	0.0:0.0:0.1807:0.8193	.	.	.	.	.	-1	.	.	.	+	.	.	CDHR2	175935035	0.988000	0.35896	0.329000	0.25429	0.034000	0.12701	3.091000	0.50199	0.670000	0.31165	0.391000	0.25812	.	CDHR2	-	-	ENSG00000074276		0.632	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR2	HGNC	protein_coding	OTTHUMT00000372201.1	119	0.81	1	T	NM_017675	Intron	176002429	176002429	+1	no_errors	ENST00000261944	ensembl	human	known	69_37n	splice_site	97	13.39	15	SNP	0.905	G
CDHR5	53841	genome.wustl.edu	37	11	620137	620137	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:620137T>G	ENST00000358353.3	-	10	1230	c.908A>C	c.(907-909)cAc>cCc	p.H303P	CDHR5_ENST00000397542.2_Missense_Mutation_p.H303P|CDHR5_ENST00000349570.7_Missense_Mutation_p.H303P			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043, ECO:0000305}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CGAGTCTGGGTGGATGATGAA	0.642																																						dbGAP											0													117.0	93.0	101.0					11																	620137		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.908A>C	11.37:g.620137T>G	ENSP00000351118:p.His303Pro		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	p.H303P	ENST00000358353.3	37	c.908	CCDS7707.1	11	.	.	.	.	.	.	.	.	.	.	T	10.37	1.332258	0.24167	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000326366;ENST00000349570	D;D;D	0.82344	-1.6;-1.6;-1.6	3.4	2.25	0.28309	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.77611	0.4156	L	0.56199	1.76	0.09310	N	1	B;D;P;P;P	0.54772	0.113;0.968;0.859;0.937;0.937	B;B;B;B;B	0.43478	0.063;0.421;0.281;0.281;0.281	T	0.67991	-0.5527	9	0.66056	D	0.02	-9.8126	5.4179	0.16384	0.0:0.1357:0.0:0.8643	.	303;303;296;303;303	Q58EZ6;Q9HBB8-4;B4DV98;Q9HBB8-2;Q9HBB8	.;.;.;.;CDHR5_HUMAN	P	303	ENSP00000380676:H303P;ENSP00000351118:H303P;ENSP00000345726:H303P	ENSP00000326527:H303P	H	-	2	0	CDHR5	610137	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.357000	0.07651	0.502000	0.28037	0.368000	0.22195	CAC	CDHR5	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000099834		0.642	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR5	HGNC	protein_coding	OTTHUMT00000255023.2	127	0.78	1	T	NM_021924		620137	620137	-1	no_errors	ENST00000358353	ensembl	human	known	69_37n	missense	111	18.12	25	SNP	0.001	G
PSORS1C1	170679	genome.wustl.edu	37	6	31084117	31084117	+	Intron	SNP	T	T	G	rs35564986		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:31084117T>G	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Silent_p.P425P|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CGGTGCCTGGTGGGGAGCAGG	0.592																																						dbGAP											0													36.0	39.0	38.0					6																	31084117		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1449T>G	6.37:g.31084117T>G			B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	NULL	p.P425	ENST00000259881.9	37	c.1275	CCDS34390.1	6																																																																																			CDSN	-	NULL	ENSG00000204539		0.592	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDSN	HGNC	protein_coding	OTTHUMT00000076110.3	129	0.76	1	T	NM_014068		31084117	31084117	-1	no_errors	ENST00000376288	ensembl	human	known	69_37n	silent	71	15.48	13	SNP	0.005	G
CEL	1056	genome.wustl.edu	37	9	135939814	135939814	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:135939814T>G	ENST00000372080.4	+	2	115	c.99T>G	c.(97-99)ggT>ggG	p.G33G	CEL_ENST00000351304.7_Silent_p.G30G	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	30	Heparin-binding.				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ACACAGAAGGTGGGTTCGTGG	0.637																																						dbGAP											0													77.0	87.0	84.0					9																	135939814		2056	4188	6244	-	-	-	SO:0001819	synonymous_variant	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.99T>G	9.37:g.135939814T>G			Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.G33	ENST00000372080.4	37	c.99	CCDS43896.1	9																																																																																			CEL	-	pfam_CarbesteraseB	ENSG00000170835		0.637	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	118	0.82	1	T			135939814	135939814	+1	no_errors	ENST00000372080	ensembl	human	known	69_37n	silent	100	23.48	31	SNP	0.000	G
CELA2B	51032	genome.wustl.edu	37	1	15812455	15812455	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:15812455A>C	ENST00000375910.3	+	6	578	c.553A>C	c.(553-555)Acc>Ccc	p.T185P		NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	185	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GGACTATGCCACCTGCTCCAG	0.567																																						dbGAP											0													167.0	167.0	167.0					1																	15812455		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.553A>C	1.37:g.15812455A>C	ENSP00000365075:p.Thr185Pro		Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T185P	ENST00000375910.3	37	c.553	CCDS30605.1	1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138425	0.56936	.	.	ENSG00000215704	ENST00000375910	D	0.89617	-2.54	3.82	2.67	0.31697	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.64402	U	0.000018	D	0.92554	0.7635	M	0.75264	2.295	0.45415	D	0.998397	D	0.89917	1.0	D	0.87578	0.998	D	0.91010	0.4849	10	0.66056	D	0.02	.	7.9326	0.29912	0.8942:0.0:0.1058:0.0	.	185	P08218	CEL2B_HUMAN	P	185	ENSP00000365075:T185P	ENSP00000365075:T185P	T	+	1	0	CELA2B	15685042	0.997000	0.39634	0.995000	0.50966	0.585000	0.36419	5.554000	0.67294	0.583000	0.29574	0.413000	0.27773	ACC	CELA2B	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000215704		0.567	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2B	HGNC	protein_coding	OTTHUMT00000006448.1	148	0.66	1	A	NM_015849		15812455	15812455	+1	no_errors	ENST00000375910	ensembl	human	known	69_37n	missense	138	13.66	22	SNP	1.000	C
CELA3B	23436	genome.wustl.edu	37	1	22307551	22307551	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:22307551T>G	ENST00000337107.6	+	4	267	c.248T>G	c.(247-249)gTg>gGg	p.V83G	RN7SL421P_ENST00000582599.1_RNA	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	83	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ACCTACCAGGTGGTGTTGGGC	0.647											OREG0013210	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													88.0	81.0	83.0					1																	22307551		2203	4300	6503	-	-	-	SO:0001583	missense	0			M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.248T>G	1.37:g.22307551T>G	ENSP00000338369:p.Val83Gly	755	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.V83G	ENST00000337107.6	37	c.248	CCDS219.1	1	.	.	.	.	.	.	.	.	.	.	T	16.17	3.046618	0.55110	.	.	ENSG00000219073	ENST00000337107;ENST00000374666	T;T	0.25579	1.79;1.79	4.89	4.89	0.63831	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.266646	0.29692	N	0.011442	T	0.57489	0.2057	M	0.90922	3.16	0.80722	D	1	D	0.60160	0.987	D	0.70935	0.971	T	0.67499	-0.5655	10	0.87932	D	0	-21.2973	12.7302	0.57193	0.0:0.0:0.0:1.0	.	83	P08861	CEL3B_HUMAN	G	83;99	ENSP00000338369:V83G;ENSP00000363798:V99G	ENSP00000338369:V83G	V	+	2	0	CELA3B	22180138	1.000000	0.71417	1.000000	0.80357	0.115000	0.19883	6.910000	0.75741	1.953000	0.56701	0.528000	0.53228	GTG	CELA3B	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000219073		0.647	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3B	HGNC	protein_coding	OTTHUMT00000007797.1	186	0.53	1	T	NM_007352		22307551	22307551	+1	no_errors	ENST00000337107	ensembl	human	known	69_37n	missense	85	18.10	19	SNP	1.000	G
CELSR1	9620	genome.wustl.edu	37	22	46930439	46930439	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:46930439T>G	ENST00000262738.3	-	1	2628	c.2629A>C	c.(2629-2631)Acc>Ccc	p.T877P	CELSR1_ENST00000395964.1_Missense_Mutation_p.T877P|CELSR1_ENST00000497509.1_5'Flank	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	877	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCTCTAGGGTGGTGGTGTCT	0.547																																						dbGAP											0													112.0	87.0	96.0					22																	46930439		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2629A>C	22.37:g.46930439T>G	ENSP00000262738:p.Thr877Pro		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.T877P	ENST00000262738.3	37	c.2629	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	T	13.27	2.187518	0.38609	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.02552	4.25;4.25	4.3	3.25	0.37280	Cadherin (5);Cadherin-like (1);	0.193710	0.34531	U	0.003891	T	0.06690	0.0171	M	0.75085	2.285	0.27664	N	0.946972	P	0.37038	0.579	B	0.43623	0.425	T	0.05533	-1.0879	10	0.38643	T	0.18	.	9.6183	0.39706	0.8367:0.0:0.0:0.1633	.	877	Q9NYQ6	CELR1_HUMAN	P	877	ENSP00000262738:T877P;ENSP00000379293:T877P	ENSP00000262738:T877P	T	-	1	0	CELSR1	45309103	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.617000	0.74210	0.686000	0.31488	0.260000	0.18958	ACC	CELSR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000075275		0.547	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	47	0.00	0	T	NM_014246		46930439	46930439	-1	no_errors	ENST00000262738	ensembl	human	known	69_37n	missense	44	33.33	22	SNP	1.000	G
CELSR2	1952	genome.wustl.edu	37	1	109816541	109816541	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:109816541T>G	ENST00000271332.3	+	34	8805				CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2						cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GAGCTGGGGGTGCTTTCCTGT	0.597																																					NSCLC(158;1285 2011 34800 34852 42084)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.8745-103T>G	1.37:g.109816541T>G			Q5T2Y7|Q92566	RNA	SNP	-	NULL	ENST00000271332.3	37	NULL	CCDS796.1	1																																																																																			CELSR2	-	-	ENSG00000143126		0.597	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	84	0.00	0	T	NM_001408		109816541	109816541	+1	no_errors	ENST00000498157	ensembl	human	known	69_37n	rna	116	22.15	33	SNP	0.769	G
CEP250	11190	genome.wustl.edu	37	20	34053586	34053586	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:34053586T>G	ENST00000397527.1	+	6	982	c.262T>G	c.(262-264)Tgg>Ggg	p.W88G	CEP250_ENST00000342580.4_Missense_Mutation_p.W88G|CEP250_ENST00000397524.1_Missense_Mutation_p.W88G	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	88					centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCCCCAGAGGTGGGAAAATGT	0.547																																						dbGAP											0													86.0	72.0	77.0					20																	34053586		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.262T>G	20.37:g.34053586T>G	ENSP00000380661:p.Trp88Gly		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.W88G	ENST00000397527.1	37	c.262	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	T	9.639	1.138531	0.21123	.	.	ENSG00000126001	ENST00000446710;ENST00000420564;ENST00000397527;ENST00000342580;ENST00000397524;ENST00000425934	T;T;T;T	0.43294	2.87;2.95;0.95;1.96	5.76	4.66	0.58398	.	0.000000	0.50627	D	0.000106	T	0.58552	0.2130	M	0.69823	2.125	0.36303	D	0.857167	D	0.76494	0.999	D	0.70227	0.968	T	0.67118	-0.5751	10	0.87932	D	0	.	7.3912	0.26911	0.0:0.1684:0.0:0.8316	.	88	Q9BV73	CP250_HUMAN	G	88	ENSP00000380661:W88G;ENSP00000341541:W88G;ENSP00000380658:W88G;ENSP00000413827:W88G	ENSP00000341541:W88G	W	+	1	0	CEP250	33517000	1.000000	0.71417	0.970000	0.41538	0.895000	0.52256	2.950000	0.49081	1.004000	0.39156	-0.250000	0.11733	TGG	CEP250	-	NULL	ENSG00000126001		0.547	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	260	0.38	1	T	NM_007186		34053586	34053586	+1	no_errors	ENST00000397527	ensembl	human	known	69_37n	missense	173	13.93	28	SNP	0.915	G
CERCAM	51148	genome.wustl.edu	37	9	131196406	131196406	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:131196406T>G	ENST00000372838.4	+	10	1627	c.1229T>G	c.(1228-1230)gTc>gGc	p.V410G	RP11-339B21.10_ENST00000610052.1_RNA|CERCAM_ENST00000372842.1_Missense_Mutation_p.V332G	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	410					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CTGGCCCGGGTCCTGGTGTTT	0.607																																						dbGAP											0													56.0	56.0	56.0					9																	131196406		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.1229T>G	9.37:g.131196406T>G	ENSP00000361929:p.Val410Gly		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.V410G	ENST00000372838.4	37	c.1229	CCDS6901.2	9	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681873	0.47991	.	.	ENSG00000167123	ENST00000372842;ENST00000372838;ENST00000413863	T;T	0.79352	-1.25;-1.26	5.74	5.74	0.90152	.	0.137632	0.50627	D	0.000120	T	0.81351	0.4804	L	0.59967	1.855	0.80722	D	1	P	0.46277	0.875	P	0.51550	0.673	D	0.83423	0.0034	10	0.87932	D	0	-27.504	13.404	0.60900	0.0:0.0:0.0:1.0	.	410	Q5T4B2	GT253_HUMAN	G	332;410;363	ENSP00000361933:V332G;ENSP00000361929:V410G	ENSP00000361929:V410G	V	+	2	0	CERCAM	130236227	0.923000	0.31300	0.089000	0.20774	0.311000	0.27955	3.507000	0.53371	2.180000	0.69256	0.533000	0.62120	GTC	CERCAM	-	pfam_Glyco_trans_25	ENSG00000167123		0.607	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2	120	0.82	1	T	NM_016174		131196406	131196406	+1	no_errors	ENST00000372838	ensembl	human	known	69_37n	missense	73	22.92	22	SNP	0.808	G
CES1	1066	genome.wustl.edu	37	16	55857561	55857561	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:55857561A>C	ENST00000361503.4	-	4	567	c.437T>G	c.(436-438)gTg>gGg	p.V146G	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.V147G|CES1_ENST00000422046.2_Missense_Mutation_p.V146G			P23141	EST1_HUMAN	carboxylesterase 1	146					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	TGCCGCACCCACCATCAGCCC	0.567																																					NSCLC(162;1801 2756 42904 52896)	dbGAP											0													97.0	89.0	91.0					16																	55857561		2196	4299	6495	-	-	-	SO:0001583	missense	0			BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.437T>G	16.37:g.55857561A>C	ENSP00000355193:p.Val146Gly		A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V147G	ENST00000361503.4	37	c.440	CCDS45488.1	16	.	.	.	.	.	.	.	.	.	.	.	2.733	-0.264061	0.05754	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046;ENST00000426667	T;T;T	0.68181	-0.31;-0.31;-0.31	4.05	0.316	0.15857	Carboxylesterase, type B (1);	0.764930	0.11598	N	0.548010	T	0.55878	0.1948	L	0.37897	1.145	0.18873	N	0.999988	B;B;B	0.19073	0.033;0.033;0.026	B;B;B	0.31191	0.125;0.125;0.076	T	0.51560	-0.8690	10	0.54805	T	0.06	.	7.13	0.25496	0.6912:0.0:0.3088:0.0	.	146;146;147	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	G	147;146;146;11	ENSP00000353720:V147G;ENSP00000355193:V146G;ENSP00000390492:V146G	ENSP00000353720:V147G	V	-	2	0	CES1	54415062	0.002000	0.14202	0.000000	0.03702	0.026000	0.11368	2.018000	0.40991	-0.257000	0.09459	0.329000	0.21502	GTG	CES1	-	pfam_CarbesteraseB,pfam_AB_hydrolase_3	ENSG00000198848		0.567	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES1	HGNC	protein_coding	OTTHUMT00000433285.1	170	0.58	1	A	NM_001266		55857561	55857561	-1	no_errors	ENST00000360526	ensembl	human	known	69_37n	missense	88	20.00	22	SNP	0.013	C
CES2	8824	genome.wustl.edu	37	16	66971985	66971985	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:66971985T>G	ENST00000317091.4	+	2	1298	c.314T>G	c.(313-315)gTg>gGg	p.V105G	CES2_ENST00000417689.1_Missense_Mutation_p.V105G	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	41					catabolic process (GO:0009056)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)	Dabigatran etexilate(DB06695)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Prasugrel(DB06209)	ACGGGGCAGGTGCTGGGGAGT	0.602																																					Ovarian(70;1230 1691 37888 38351)	dbGAP											0													79.0	79.0	79.0					16																	66971985		2200	4300	6500	-	-	-	SO:0001583	missense	0			BC032095	CCDS10825.1, CCDS45507.1	16q22.1	2010-10-12	2010-10-12		ENSG00000172831	ENSG00000172831		"""Carboxylesterases"""	1864	protein-coding gene	gene with protein product		605278	"""carboxylesterase 2 (intestine, liver)"""			9169443, 9144407, 20931200	Standard	NM_198061		Approved	CE-2, iCE, CES2A1	uc002eqr.3	O00748	OTTHUMG00000137517	ENST00000317091.4:c.314T>G	16.37:g.66971985T>G	ENSP00000317842:p.Val105Gly		A8K367|Q16859|Q5MAB8|Q7Z366|Q8IUP4|Q8TCP8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V105G	ENST00000317091.4	37	c.314	CCDS10825.1	16	.	.	.	.	.	.	.	.	.	.	T	22.3	4.266821	0.80469	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.72051	-0.62;-0.62	5.4	5.4	0.78164	Carboxylesterase, type B (1);	0.157375	0.29995	N	0.010666	D	0.89976	0.6871	H	0.98487	4.245	0.53005	D	0.999966	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.93242	0.6627	10	0.87932	D	0	.	13.4654	0.61251	0.0:0.0:0.0:1.0	.	41;105	O00748;A8K367	EST2_HUMAN;.	G	105	ENSP00000394452:V105G;ENSP00000317842:V105G	ENSP00000317842:V105G	V	+	2	0	CES2	65529486	0.430000	0.25538	0.967000	0.41034	0.021000	0.10359	4.763000	0.62257	2.279000	0.76181	0.529000	0.55759	GTG	CES2	-	pfam_CarbesteraseB	ENSG00000172831		0.602	CES2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES2	HGNC	protein_coding	OTTHUMT00000268838.2	134	0.71	1	T	NM_003869		66971985	66971985	+1	no_errors	ENST00000317091	ensembl	human	known	69_37n	missense	81	20.39	21	SNP	0.953	G
CETP	1071	genome.wustl.edu	37	16	57017553	57017553	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:57017553T>G	ENST00000566128.1	+	16	1529	c.1262T>G	c.(1261-1263)gTg>gGg	p.V421G	CETP_ENST00000200676.3_Missense_Mutation_p.V486G|CETP_ENST00000379780.2_Missense_Mutation_p.V426G					cholesteryl ester transfer protein, plasma											NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CACCTGCTGGTGGATTTCCTC	0.607																																						dbGAP											0													116.0	109.0	112.0					16																	57017553		2198	4300	6498	-	-	-	SO:0001583	missense	0			M30185	CCDS10772.1, CCDS67032.1	16q13	2012-10-02			ENSG00000087237	ENSG00000087237		"""BPI fold containing"""	1869	protein-coding gene	gene with protein product	"""BPI fold containing family F"""	118470				3600759, 2334701	Standard	NM_000078		Approved	BPIFF	uc002eki.2	P11597	OTTHUMG00000133279	ENST00000566128.1:c.1262T>G	16.37:g.57017553T>G	ENSP00000456276:p.Val421Gly			Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer	p.V486G	ENST00000566128.1	37	c.1457		16	.	.	.	.	.	.	.	.	.	.	t	11.10	1.539874	0.27563	.	.	ENSG00000087237	ENST00000200676;ENST00000379780	T;T	0.16457	2.34;2.35	3.13	1.89	0.25635	.	0.486723	0.15871	U	0.240536	T	0.21427	0.0516	L	0.27053	0.805	0.48830	D	0.999713	D;B	0.71674	0.998;0.255	D;B	0.66351	0.943;0.088	T	0.07309	-1.0779	10	0.87932	D	0	-10.6944	5.0459	0.14483	0.2658:0.0:0.0:0.7342	.	426;486	P11597-2;P11597	.;CETP_HUMAN	G	486;426	ENSP00000200676:V486G;ENSP00000369106:V426G	ENSP00000200676:V486G	V	+	2	0	CETP	55575054	1.000000	0.71417	0.997000	0.53966	0.720000	0.41350	2.198000	0.42705	1.437000	0.47472	0.450000	0.29827	GTG	CETP	-	pirsf_Cholesteryl_ester_transfer	ENSG00000087237		0.607	CETP-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	CETP	HGNC	protein_coding	OTTHUMT00000432305.1	157	0.00	0	T	NM_000078		57017553	57017553	+1	no_errors	ENST00000200676	ensembl	human	known	69_37n	missense	103	14.17	17	SNP	0.997	G
CES3	23491	genome.wustl.edu	37	16	66995283	66995283	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:66995283A>C	ENST00000303334.4	+	1	144	c.73A>C	c.(73-75)Aca>Cca	p.T25P	CES3_ENST00000394037.1_Missense_Mutation_p.T25P|RP11-361L15.4_ENST00000566869.1_RNA	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	25						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		ATGCCCTGCCACAGCCACTGG	0.607											OREG0023869	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													65.0	55.0	58.0					16																	66995283		2200	4300	6500	-	-	-	SO:0001583	missense	0			AK025389	CCDS10826.1, CCDS54022.1, CCDS54023.1	16q22.1	2014-05-13	2008-07-25		ENSG00000172828	ENSG00000172828		"""Carboxylesterases"""	1865	protein-coding gene	gene with protein product	"""esterase 31"", ""brain carboxylesterase BR3"""	605279	"""carboxylesterase 3 (brain)"""			10518925, 14581373, 15100172, 20931200	Standard	NM_001185176		Approved	FLJ21736, ES31	uc002eqt.3	Q6UWW8	OTTHUMG00000137525	ENST00000303334.4:c.73A>C	16.37:g.66995283A>C	ENSP00000304782:p.Thr25Pro	1096	B2Z3W9|F5H242|Q7Z6J1|Q9H6X7	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.T25P	ENST00000303334.4	37	c.73	CCDS10826.1	16	.	.	.	.	.	.	.	.	.	.	A	10.28	1.305827	0.23736	.	.	ENSG00000172828	ENST00000303334;ENST00000394037	T;T	0.66995	-0.24;-0.24	3.43	3.43	0.39272	Carboxylesterase, type B (1);	1.429030	0.04699	N	0.415547	T	0.68879	0.3049	L	0.53249	1.67	0.30227	N	0.796298	P	0.48998	0.918	P	0.49252	0.604	T	0.57780	-0.7752	10	0.25106	T	0.35	.	8.5639	0.33527	1.0:0.0:0.0:0.0	.	25	Q6UWW8	EST3_HUMAN	P	25	ENSP00000304782:T25P;ENSP00000377602:T25P	ENSP00000304782:T25P	T	+	1	0	CES3	65552784	0.000000	0.05858	0.006000	0.13384	0.035000	0.12851	0.513000	0.22770	1.768000	0.52137	0.533000	0.62120	ACA	CES3	-	pfam_CarbesteraseB	ENSG00000172828		0.607	CES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CES3	HGNC	protein_coding	OTTHUMT00000268848.1	208	0.47	1	A	NM_024922		66995283	66995283	+1	no_errors	ENST00000303334	ensembl	human	known	69_37n	missense	118	15.71	22	SNP	0.007	C
CFL1	1072	genome.wustl.edu	37	11	65623676	65623676	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:65623676A>C	ENST00000525451.2	-	3	756	c.41T>G	c.(40-42)gTg>gGg	p.V14G	CFL1_ENST00000534769.1_Missense_Mutation_p.V52G|CFL1_ENST00000531413.1_5'UTR|CFL1_ENST00000524553.1_5'UTR|CFL1_ENST00000308162.5_Missense_Mutation_p.V14G|CFL1_ENST00000527344.1_5'UTR|CFL1_ENST00000531407.1_5'UTR			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	14	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin cytoskeleton organization (GO:0030036)|actin filament depolymerization (GO:0030042)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytoskeleton organization (GO:0007010)|establishment of cell polarity (GO:0030010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|mitotic cytokinesis (GO:0000281)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell size (GO:0045792)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of actin filament depolymerization (GO:0030836)|protein import into nucleus (GO:0006606)|protein phosphorylation (GO:0006468)|regulation of cell morphogenesis (GO:0022604)|response to amino acid (GO:0043200)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)	cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		GTCGTTGAACACCTTGATGAC	0.507																																					Esophageal Squamous(90;820 1366 3932 32351 42291)	dbGAP											0													84.0	77.0	79.0					11																	65623676		2201	4297	6498	-	-	-	SO:0001583	missense	0			X95404	CCDS8114.1	11q13.1	2010-12-03			ENSG00000172757	ENSG00000172757			1874	protein-coding gene	gene with protein product		601442		CFL		8800436	Standard	NM_005507		Approved		uc001ofs.3	P23528		ENST00000525451.2:c.41T>G	11.37:g.65623676A>C	ENSP00000432660:p.Val14Gly		B3KUQ1|Q53Y87|Q9UCA2	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin	p.V14G	ENST00000525451.2	37	c.41	CCDS8114.1	11	.	.	.	.	.	.	.	.	.	.	A	16.68	3.189145	0.57909	.	.	ENSG00000172757	ENST00000525451;ENST00000308162;ENST00000534769;ENST00000532134;ENST00000526975	D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8	4.01	4.01	0.46588	Actin-binding, cofilin/tropomyosin type (1);	0.071141	0.53938	D	0.000042	D	0.83783	0.5329	M	0.81682	2.555	0.80722	D	1	B	0.30406	0.278	B	0.36959	0.237	T	0.82248	-0.0551	10	0.33940	T	0.23	.	11.5602	0.50772	1.0:0.0:0.0:0.0	.	14	P23528	COF1_HUMAN	G	14;14;52;14;14	ENSP00000432660:V14G;ENSP00000309629:V14G;ENSP00000431696:V52G;ENSP00000436431:V14G;ENSP00000432153:V14G	ENSP00000309629:V14G	V	-	2	0	CFL1	65380252	0.983000	0.35010	1.000000	0.80357	0.996000	0.88848	7.225000	0.78051	2.045000	0.60652	0.533000	0.62120	GTG	CFL1	-	NULL	ENSG00000172757		0.507	CFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFL1	HGNC	protein_coding	OTTHUMT00000390701.3	109	0.89	1	A	NM_005507		65623676	65623676	-1	no_errors	ENST00000308162	ensembl	human	known	69_37n	missense	61	23.75	19	SNP	1.000	C
CHAF1B	8208	genome.wustl.edu	37	21	37785375	37785375	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:37785375A>C	ENST00000314103.5	+	12	1406	c.1255A>C	c.(1255-1257)Acc>Ccc	p.T419P		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	419					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)	p.T419P(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GGTAGAGGGAACCCCTGCCAG	0.592																																						dbGAP											1	Substitution - Missense(1)	breast(1)											52.0	56.0	55.0					21																	37785375		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1255A>C	21.37:g.37785375A>C	ENSP00000315700:p.Thr419Pro		Q99548	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B	p.T419P	ENST00000314103.5	37	c.1255	CCDS13644.1	21	.	.	.	.	.	.	.	.	.	.	A	11.83	1.754416	0.31046	.	.	ENSG00000159259	ENST00000314103	T	0.55413	0.52	5.19	2.82	0.32997	.	0.501141	0.22853	N	0.054828	T	0.32675	0.0837	L	0.34521	1.04	0.09310	N	0.999999	P	0.43169	0.8	B	0.35470	0.203	T	0.12451	-1.0547	10	0.30854	T	0.27	-9.19	5.7162	0.17962	0.7336:0.0:0.142:0.1244	.	419	Q13112	CAF1B_HUMAN	P	419	ENSP00000315700:T419P	ENSP00000315700:T419P	T	+	1	0	CHAF1B	36707245	0.014000	0.17966	0.006000	0.13384	0.090000	0.18270	1.845000	0.39279	0.265000	0.21872	-0.675000	0.03792	ACC	CHAF1B	-	NULL	ENSG00000159259		0.592	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1B	HGNC	protein_coding	OTTHUMT00000194616.2	103	0.00	0	A	NM_005441		37785375	37785375	+1	no_errors	ENST00000314103	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	0.069	C
CHD3	1107	genome.wustl.edu	37	17	7798764	7798764	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:7798764A>C	ENST00000330494.7	+	10	1761	c.1611A>C	c.(1609-1611)ccA>ccC	p.P537P	CHD3_ENST00000380358.4_Silent_p.P596P|CHD3_ENST00000358181.4_Silent_p.P537P	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	537	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAGATGTCCCACCCCCCCGTC	0.577																																						dbGAP											0													130.0	103.0	112.0					17																	7798764		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1611A>C	17.37:g.7798764A>C			D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_N,pfam_Znf_PHD-finger,pfam_Chromo_domain,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,pfscan_Znf_PHD-finger,pfscan_Chromo_domain/shadow	p.T408P	ENST00000330494.7	37	c.1222	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	A	0.222	-1.028098	0.02045	.	.	ENSG00000170004	ENST00000452447	.	.	.	5.25	0.481	0.16809	.	.	.	.	.	T	0.41396	0.1157	.	.	.	0.36438	D	0.865292	.	.	.	.	.	.	T	0.34700	-0.9818	4	.	.	.	-11.3331	2.316	0.04198	0.2779:0.2505:0.3504:0.1213	.	.	.	.	P	408	.	.	T	+	1	0	CHD3	7739489	0.000000	0.05858	0.095000	0.20976	0.078000	0.17371	-1.050000	0.03510	-0.110000	0.12022	0.459000	0.35465	ACC	CHD3	-	superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000170004		0.577	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	109	0.00	0	A	NM_001005273		7798764	7798764	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000452447	ensembl	human	putative	69_37n	missense	78	19.39	19	SNP	0.008	C
CHD3	1107	genome.wustl.edu	37	17	7812031	7812031	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:7812031T>G	ENST00000330494.7	+	36	5428	c.5278T>G	c.(5278-5280)Tgg>Ggg	p.W1760G	CHD3_ENST00000380358.4_Missense_Mutation_p.W1819G|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Missense_Mutation_p.W1726G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1760	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CTATGCACGGTGGCAGGACAT	0.428																																						dbGAP											0													172.0	164.0	167.0					17																	7812031		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5278T>G	17.37:g.7812031T>G	ENSP00000332628:p.Trp1760Gly		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.W1760G	ENST00000330494.7	37	c.5278	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933249	0.52866	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494;ENST00000439235;ENST00000449744	D;D;D	0.95272	-3.66;-3.63;-3.57	4.57	4.57	0.56435	CHD, C-terminal 2 (1);	0.000000	0.42420	D	0.000711	D	0.96873	0.8979	M	0.77820	2.39	0.80722	D	1	D;D;D;D	0.76494	0.999;0.989;0.991;0.996	D;D;D;D	0.87578	0.998;0.993;0.996;0.996	D	0.97483	1.0048	10	0.87932	D	0	-11.4206	14.0927	0.65002	0.0:0.0:0.0:1.0	.	337;1726;1760;1819	B3KWV4;Q12873-2;Q12873;E9PG89	.;.;CHD3_HUMAN;.	G	1819;1726;1760;88;52	ENSP00000369716:W1819G;ENSP00000350907:W1726G;ENSP00000332628:W1760G	ENSP00000332628:W1760G	W	+	1	0	CHD3	7752756	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	1.919000	0.55581	0.459000	0.35465	TGG	CHD3	-	pfam_CHD_C2	ENSG00000170004		0.428	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	120	0.83	1	T	NM_001005273		7812031	7812031	+1	no_errors	ENST00000330494	ensembl	human	known	69_37n	missense	153	13.48	24	SNP	1.000	G
CHD4	1108	genome.wustl.edu	37	12	6690831	6690831	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:6690831T>G	ENST00000357008.2	-	31	4828	c.4665A>C	c.(4663-4665)gcA>gcC	p.A1555A	CHD4_ENST00000309577.6_Silent_p.A1583A|CHD4_ENST00000544040.1_Silent_p.A1548A|CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000544484.1_Silent_p.A1580A|RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1555					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GTGGGACAGGTGCAGGAGTGT	0.542																																					Colon(32;586 792 4568 16848 45314)	dbGAP											0													185.0	167.0	173.0					12																	6690831		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4665A>C	12.37:g.6690831T>G			Q8IXZ5	Silent	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.A1583	ENST00000357008.2	37	c.4749	CCDS8552.1	12																																																																																			CHD4	-	NULL	ENSG00000111642		0.542	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		390	0.25	1	T	NM_001273		6690831	6690831	-1	no_errors	ENST00000309577	ensembl	human	known	69_37n	silent	274	13.02	41	SNP	0.367	G
CHD5	26038	genome.wustl.edu	37	1	6204082	6204082	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:6204082A>C	ENST00000262450.3	-	12	2034		c.e12+1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTGCGACCCACCTGTGGCCC	0.622																																						dbGAP											0													146.0	130.0	135.0					1																	6204082		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1934+1T>G	1.37:g.6204082A>C			A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	-	e12+2	ENST00000262450.3	37	c.1934+2	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.076777	0.55753	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9191	0.63919	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD5	6126669	1.000000	0.71417	0.998000	0.56505	0.852000	0.48524	5.904000	0.69886	1.938000	0.56188	0.379000	0.24179	.	CHD5	-	-	ENSG00000116254		0.622	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	HGNC	protein_coding	OTTHUMT00000002823.2	115	0.85	1	A	NM_015557	Intron	6204082	6204082	-1	no_errors	ENST00000262450	ensembl	human	known	69_37n	splice_site	106	12.10	15	SNP	0.999	C
CHD6	84181	genome.wustl.edu	37	20	40080655	40080655	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:40080655A>C	ENST00000373233.3	-	22	3511	c.3334T>G	c.(3334-3336)Tgg>Ggg	p.W1112G	CHD6_ENST00000309279.7_Missense_Mutation_p.W595G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1112					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATGTCCTTCCACCGGCCCCAG	0.552																																						dbGAP											0													83.0	71.0	75.0					20																	40080655		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3334T>G	20.37:g.40080655A>C	ENSP00000362330:p.Trp1112Gly		Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.W1112G	ENST00000373233.3	37	c.3334	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626965	0.87560	.	.	ENSG00000124177	ENST00000373233;ENST00000309279	T;T	0.77358	-1.09;-1.09	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000033	D	0.89153	0.6634	M	0.85197	2.74	0.42012	D	0.990942	D	0.76494	0.999	D	0.72625	0.978	D	0.90981	0.4827	10	0.87932	D	0	-9.8008	16.3483	0.83171	1.0:0.0:0.0:0.0	.	1112	Q8TD26	CHD6_HUMAN	G	1112;595	ENSP00000362330:W1112G;ENSP00000308684:W595G	ENSP00000308684:W595G	W	-	1	0	CHD6	39514069	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.367000	0.79558	2.254000	0.74563	0.533000	0.62120	TGG	CHD6	-	NULL	ENSG00000124177		0.552	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	122	0.00	0	A			40080655	40080655	-1	no_errors	ENST00000373233	ensembl	human	known	69_37n	missense	154	14.92	27	SNP	1.000	C
CHD8	57680	genome.wustl.edu	37	14	21897328	21897328	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:21897328A>C	ENST00000557364.1	-	3	1273	c.1010T>G	c.(1009-1011)gTa>gGa	p.V337G	RN7SL650P_ENST00000583681.1_RNA|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.V58G|CHD8_ENST00000399982.2_Missense_Mutation_p.V337G			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	337	Gln-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATAGTTACTACCTTGGCAGG	0.562																																						dbGAP											0													85.0	98.0	94.0					14																	21897328		2070	4221	6291	-	-	-	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1010T>G	14.37:g.21897328A>C	ENSP00000451601:p.Val337Gly		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V337G	ENST00000557364.1	37	c.1010	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935499	0.52866	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364;ENST00000553283	D;D;D	0.91894	-2.91;-2.93;-2.93	6.17	6.17	0.99709	.	0.063724	0.64402	D	0.000009	D	0.92835	0.7721	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.66351	0.943	D	0.93882	0.7172	10	0.87932	D	0	-11.6627	15.8048	0.78491	1.0:0.0:0.0:0.0	.	58	Q9HCK8-2	.	G	58;337;57;337;88	ENSP00000406288:V58G;ENSP00000382863:V337G;ENSP00000451601:V337G	ENSP00000262707:V57G	V	-	2	0	CHD8	20967168	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.107000	0.89557	2.371000	0.80710	0.533000	0.62120	GTA	CHD8	-	NULL	ENSG00000100888		0.562	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	267	0.37	1	A	NM_020920		21897328	21897328	-1	no_errors	ENST00000399982	ensembl	human	known	69_37n	missense	206	10.73	25	SNP	1.000	C
CHFR	55743	genome.wustl.edu	37	12	133448755	133448755	+	Intron	SNP	T	T	G	rs544598672	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:133448755T>G	ENST00000432561.2	-	4	417				CHFR_ENST00000315585.7_Intron|CHFR_ENST00000443047.2_Intron|CHFR_ENST00000541837.2_Intron|CHFR_ENST00000450056.2_Intron|CHFR_ENST00000266880.7_Intron			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase						mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		AGAAATGGGGTGTAGCCAGGA	0.587																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.343+115A>C	12.37:g.133448755T>G			A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	RNA	SNP	-	NULL	ENST00000432561.2	37	NULL	CCDS53849.1	12																																																																																			CHFR	-	-	ENSG00000072609		0.587	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CHFR	HGNC	protein_coding	OTTHUMT00000397130.2	46	0.00	0	T			133448755	133448755	-1	no_errors	ENST00000536196	ensembl	human	known	69_37n	rna	22	29.03	9	SNP	0.001	G
CHI3L1	1116	genome.wustl.edu	37	1	203152780	203152780	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:203152780T>G	ENST00000255409.3	-	5	579	c.454A>C	c.(454-456)Acc>Ccc	p.T152P		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	152					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						TTGATTAGGGTGGTAAAATGC	0.582																																						dbGAP											0													125.0	100.0	109.0					1																	203152780		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.454A>C	1.37:g.203152780T>G	ENSP00000255409:p.Thr152Pro		B2R7B0|P30923|Q8IVA4|Q96HI7	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	p.T152P	ENST00000255409.3	37	c.454	CCDS1435.1	1	.	.	.	.	.	.	.	.	.	.	T	12.15	1.852970	0.32699	.	.	ENSG00000133048	ENST00000255409	T	0.05717	3.4	5.69	-2.06	0.07298	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.866849	0.09907	N	0.740277	T	0.10337	0.0253	M	0.86097	2.795	0.20307	N	0.999918	B	0.32543	0.375	B	0.34346	0.18	T	0.26224	-1.0109	10	0.66056	D	0.02	-13.3648	4.9134	0.13833	0.2267:0.2134:0.0:0.5599	.	152	P36222	CH3L1_HUMAN	P	152	ENSP00000255409:T152P	ENSP00000255409:T152P	T	-	1	0	CHI3L1	201419403	0.236000	0.23804	0.272000	0.24630	0.589000	0.36550	0.005000	0.13129	-0.161000	0.10983	-1.087000	0.02190	ACC	CHI3L1	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II	ENSG00000133048		0.582	CHI3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHI3L1	HGNC	protein_coding	OTTHUMT00000100265.1	135	0.73	1	T	NM_001276		203152780	203152780	-1	no_errors	ENST00000255409	ensembl	human	known	69_37n	missense	221	10.84	27	SNP	0.108	G
CHRD	8646	genome.wustl.edu	37	3	184100265	184100265	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:184100265A>C	ENST00000204604.1	+	7	1034	c.788A>C	c.(787-789)cAc>cCc	p.H263P	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.H263P|CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Missense_Mutation_p.H263P	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	263	CHRD 1. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACACTCACTCACCCTTCAGGG	0.627																																						dbGAP											0													98.0	112.0	107.0					3																	184100265		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.788A>C	3.37:g.184100265A>C	ENSP00000204604:p.His263Pro		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.H263P	ENST00000204604.1	37	c.788	CCDS3266.1	3	.	.	.	.	.	.	.	.	.	.	A	16.93	3.257356	0.59321	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.46451	0.87;0.87;0.87	5.07	3.91	0.45181	CHRD (3);	0.786196	0.11913	N	0.517448	T	0.43033	0.1229	L	0.55481	1.735	0.80722	D	1	B;P	0.43477	0.431;0.808	B;B	0.44133	0.393;0.442	T	0.15809	-1.0424	10	0.40728	T	0.16	-2.5719	10.2835	0.43554	0.92:0.0:0.08:0.0	.	263;263	E7ESX1;Q9H2X0	.;CHRD_HUMAN	P	263	ENSP00000204604:H263P;ENSP00000408972:H263P;ENSP00000334036:H263P	ENSP00000204604:H263P	H	+	2	0	CHRD	185582959	0.435000	0.25577	0.927000	0.36925	0.908000	0.53690	3.658000	0.54482	1.022000	0.39626	0.533000	0.62120	CAC	CHRD	-	pfam_CHRD,smart_CHRD,pirsf_Chordin,pfscan_CHRD	ENSG00000090539		0.627	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	76	0.00	0	A	NM_003741		184100265	184100265	+1	no_errors	ENST00000204604	ensembl	human	known	69_37n	missense	75	21.43	21	SNP	0.805	C
CHRM4	1132	genome.wustl.edu	37	11	46407130	46407130	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:46407130A>G	ENST00000433765.2	-	1	977	c.978T>C	c.(976-978)ccT>ccC	p.P326P		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	326					adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway (GO:0007197)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|regulation of locomotion (GO:0040012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Darifenacin(DB00496)|Desipramine(DB01151)|Doxepin(DB01142)|Fesoterodine(DB06702)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paroxetine(DB00715)|Pethidine(DB00454)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Tolterodine(DB01036)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GCTGCAGGGGAGGGGCGGGCA	0.622																																					Esophageal Squamous(171;1020 1936 4566 30205 42542)	dbGAP											0													107.0	125.0	119.0					11																	46407130		2087	4193	6280	-	-	-	SO:0001819	synonymous_variant	0			M16405	CCDS44581.1	11p12-p11.2	2012-08-08			ENSG00000180720	ENSG00000180720		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1953	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 4"""	118495				1577490	Standard	NM_000741		Approved		uc001nct.1	P08173	OTTHUMG00000154371	ENST00000433765.2:c.978T>C	11.37:g.46407130A>G			B2RPP4|Q0VD60|Q4VBK7	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Musac_M4_rcpt	p.P326	ENST00000433765.2	37	c.978	CCDS44581.1	11																																																																																			CHRM4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180720		0.622	CHRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM4	HGNC	protein_coding	OTTHUMT00000334985.1	119	0.00	0	A	NM_000741		46407130	46407130	-1	no_errors	ENST00000433765	ensembl	human	known	69_37n	silent	92	15.60	17	SNP	0.000	G
CHRM1	1128	genome.wustl.edu	37	11	62677354	62677354	+	Missense_Mutation	SNP	A	A	C	rs371631781		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:62677354A>C	ENST00000306960.3	-	2	1760	c.1219T>G	c.(1219-1221)Tgc>Ggc	p.C407G	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	407					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	TTGACGTAGCACAGCCAGTAG	0.577																																						dbGAP											0													157.0	135.0	143.0					11																	62677354		2201	4298	6499	-	-	-	SO:0001583	missense	0			Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.1219T>G	11.37:g.62677354A>C	ENSP00000306490:p.Cys407Gly		Q96RH1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Musac_M1_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.C407G	ENST00000306960.3	37	c.1219	CCDS8040.1	11	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630513	0.67015	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.35236	1.32;1.32	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.555807	0.15297	N	0.269840	T	0.34948	0.0915	N	0.04355	-0.22	0.53005	D	0.999966	D	0.76494	0.999	D	0.81914	0.995	T	0.20672	-1.0268	10	0.27785	T	0.31	-23.2239	11.7753	0.51983	1.0:0.0:0.0:0.0	.	407	P11229	ACM1_HUMAN	G	407	ENSP00000306490:C407G;ENSP00000441188:C407G	ENSP00000306490:C407G	C	-	1	0	CHRM1	62433930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.021000	0.93673	1.870000	0.54199	0.459000	0.35465	TGC	CHRM1	-	pfam_7TM_GPCR_Rhodpsn,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000168539		0.577	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM1	HGNC	protein_coding	OTTHUMT00000396178.1	110	0.00	0	A	NM_000738		62677354	62677354	-1	no_errors	ENST00000306960	ensembl	human	known	69_37n	missense	51	20.31	13	SNP	1.000	C
CHRNA1	1134	genome.wustl.edu	37	2	175618248	175618248	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:175618248T>G	ENST00000261007.5	-	7	902	c.836A>C	c.(835-837)tAc>tCc	p.Y279S	CHRNA1_ENST00000409323.1_Missense_Mutation_p.Y254S|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.Y254S|CHRNA1_ENST00000409542.1_Missense_Mutation_p.Y172S|CHRNA1_ENST00000348749.5_Missense_Mutation_p.Y254S	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	279					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TGTGGGCAGGTAGAATACCAG	0.537																																						dbGAP											0													209.0	192.0	198.0					2																	175618248		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.836A>C	2.37:g.175618248T>G	ENSP00000261007:p.Tyr279Ser		B4DRV6|D3DPE8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.Y279S	ENST00000261007.5	37	c.836	CCDS33331.1	2	.	.	.	.	.	.	.	.	.	.	T	18.29	3.591104	0.66219	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.95579	0.8563	M	0.85299	2.745	0.80722	D	1	D;D;D	0.89917	1.0;0.986;0.986	D;D;D	0.97110	1.0;0.943;0.956	D	0.96281	0.9206	10	0.87932	D	0	.	15.3121	0.74042	0.0:0.0:0.0:1.0	.	254;254;279	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	S	254;279;172;254;254	ENSP00000261008:Y254S;ENSP00000261007:Y279S;ENSP00000387026:Y172S;ENSP00000386611:Y254S;ENSP00000386684:Y254S	ENSP00000261007:Y279S	Y	-	2	0	CHRNA1	175326494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.951000	0.87819	2.075000	0.62263	0.528000	0.53228	TAC	CHRNA1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	ENSG00000138435		0.537	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	HGNC	protein_coding	OTTHUMT00000334116.1	221	0.88	2	T			175618248	175618248	-1	no_errors	ENST00000261007	ensembl	human	known	69_37n	missense	222	11.42	29	SNP	1.000	G
CHRNA4	1137	genome.wustl.edu	37	20	61981886	61981886	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:61981886T>G	ENST00000370263.4	-	5	1098	c.877A>C	c.(877-879)Acc>Ccc	p.T293P	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	293					action potential (GO:0001508)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cognition (GO:0050890)|DNA repair (GO:0006281)|exploration behavior (GO:0035640)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|neurological system process (GO:0050877)|regulation of dopamine secretion (GO:0014059)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	ATGATCTCGGTGATGAGCAGC	0.582																																						dbGAP											0													247.0	181.0	203.0					20																	61981886		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13517.1	20q13.33	2013-09-20	2012-02-07		ENSG00000101204	ENSG00000101204		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1958	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 4 (neuronal)"""	118504	"""cholinergic receptor, nicotinic, alpha polypeptide 4"""	EBN, EBN1		1505988	Standard	NM_000744		Approved	BFNC	uc002yes.3	P43681	OTTHUMG00000033080	ENST00000370263.4:c.877A>C	20.37:g.61981886T>G	ENSP00000359285:p.Thr293Pro		Q4JGR7|Q4VAQ5|Q4VAQ6	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T293P	ENST00000370263.4	37	c.877	CCDS13517.1	20	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730774	0.89390	.	.	ENSG00000101204	ENST00000370258;ENST00000370263;ENST00000539366	D	0.86432	-2.12	5.06	5.06	0.68205	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92622	0.7656	M	0.70275	2.135	0.80722	D	1	D;P	0.89917	1.0;0.863	D;P	0.91635	0.999;0.722	D	0.93515	0.6856	10	0.87932	D	0	.	14.7882	0.69819	0.0:0.0:0.0:1.0	.	222;293	Q4VAQ5;P43681	.;ACHA4_HUMAN	P	199;293;222	ENSP00000359285:T293P	ENSP00000359280:T199P	T	-	1	0	CHRNA4	61452330	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.103000	0.71492	1.889000	0.54706	0.533000	0.62120	ACC	CHRNA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000101204		0.582	CHRNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA4	HGNC	protein_coding	OTTHUMT00000080508.3	297	0.00	0	T			61981886	61981886	-1	no_errors	ENST00000370263	ensembl	human	known	69_37n	missense	170	12.76	25	SNP	1.000	G
CHRNB1	1140	genome.wustl.edu	37	17	7358701	7358701	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:7358701T>G	ENST00000306071.2	+	9	1210	c.1143T>G	c.(1141-1143)agT>agG	p.S381R	CHRNB1_ENST00000536404.2_Missense_Mutation_p.S309R|CHRNB1_ENST00000575379.1_5'Flank|CHRNB1_ENST00000576360.1_Missense_Mutation_p.S260R	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	381					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|neurological system process (GO:0050877)|neuromuscular synaptic transmission (GO:0007274)|postsynaptic membrane organization (GO:0001941)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|ligand-gated ion channel activity (GO:0015276)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)			Galantamine(DB00674)	CTCCAGGAAGTGGCTGGGGTC	0.522																																						dbGAP											0													83.0	88.0	86.0					17																	7358701		2203	4300	6503	-	-	-	SO:0001583	missense	0			X14830	CCDS11106.1	17p13.1	2012-02-11	2006-02-01		ENSG00000170175	ENSG00000170175		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1961	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 1 (muscle)"""	100710	"""cholinergic receptor, nicotinic, beta polypeptide 1 (muscle)"""	CHRNB			Standard	NM_000747		Approved		uc002ghb.3	P11230	OTTHUMG00000108139	ENST00000306071.2:c.1143T>G	17.37:g.7358701T>G	ENSP00000304290:p.Ser381Arg		B7Z5H1|Q8IZ46|Q96FB8	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S381R	ENST00000306071.2	37	c.1143	CCDS11106.1	17	.	.	.	.	.	.	.	.	.	.	T	12.25	1.882717	0.33255	.	.	ENSG00000170175	ENST00000306071;ENST00000536404	T;T	0.71461	-0.57;-0.57	5.73	3.33	0.38152	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.274101	0.41001	D	0.000972	T	0.48333	0.1494	N	0.17474	0.49	0.80722	D	1	B	0.13594	0.008	B	0.14578	0.011	T	0.38950	-0.9637	10	0.20046	T	0.44	.	7.0182	0.24900	0.0:0.0812:0.1496:0.7692	.	381	P11230	ACHB_HUMAN	R	381;309	ENSP00000304290:S381R;ENSP00000439209:S309R	ENSP00000304290:S381R	S	+	3	2	CHRNB1	7299425	0.941000	0.31946	1.000000	0.80357	0.974000	0.67602	0.415000	0.21181	2.181000	0.69327	0.533000	0.62120	AGT	CHRNB1	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000170175		0.522	CHRNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB1	HGNC	protein_coding	OTTHUMT00000226942.3	119	0.83	1	T			7358701	7358701	+1	no_errors	ENST00000306071	ensembl	human	known	69_37n	missense	120	12.41	17	SNP	0.998	G
CHRNB4	1143	genome.wustl.edu	37	15	78921509	78921509	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:78921509A>G	ENST00000261751.3	-	5	1249	c.1138T>C	c.(1138-1140)Tcc>Ccc	p.S380P	RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000412074.2_Intron|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	380					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	TAGAAGTTGGAGGGGCTGGTG	0.642																																						dbGAP											0													52.0	53.0	53.0					15																	78921509		2196	4293	6489	-	-	-	SO:0001583	missense	0			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.1138T>C	15.37:g.78921509A>G	ENSP00000261751:p.Ser380Pro		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.S380P	ENST00000261751.3	37	c.1138	CCDS10306.1	15	.	.	.	.	.	.	.	.	.	.	A	3.924	-0.017519	0.07681	.	.	ENSG00000117971	ENST00000261751	D	0.85861	-2.04	5.45	-1.26	0.09376	Neurotransmitter-gated ion-channel transmembrane domain (2);	5.702840	0.00166	N	0.000002	T	0.69904	0.3163	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.56050	-0.8043	10	0.20519	T	0.43	.	2.984	0.05962	0.5294:0.1476:0.2297:0.0933	.	380	P30926	ACHB4_HUMAN	P	380	ENSP00000261751:S380P	ENSP00000261751:S380P	S	-	1	0	CHRNB4	76708564	0.001000	0.12720	0.003000	0.11579	0.279000	0.26890	-0.495000	0.06443	-0.175000	0.10725	0.533000	0.62120	TCC	CHRNB4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel	ENSG00000117971		0.642	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB4	HGNC	protein_coding	OTTHUMT00000290108.1	169	0.59	1	A			78921509	78921509	-1	no_errors	ENST00000261751	ensembl	human	known	69_37n	missense	100	17.89	22	SNP	0.000	G
CHRND	1144	genome.wustl.edu	37	2	233393286	233393286	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:233393286A>C	ENST00000258385.3	+	5	461	c.429A>C	c.(427-429)ccA>ccC	p.P143P	CHRND_ENST00000536614.1_Silent_p.P143P|CHRND_ENST00000543200.1_Silent_p.P128P|CHRND_ENST00000457943.2_Missense_Mutation_p.H53P	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	143					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|musculoskeletal movement (GO:0050881)|neuromuscular process (GO:0050905)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)	Galantamine(DB00674)	ACTGGCTGCCACCTGCCATCT	0.567																																						dbGAP											0													176.0	161.0	166.0					2																	233393286		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X55019	CCDS2494.1, CCDS58754.1	2q37.1	2012-02-11	2012-02-07		ENSG00000135902	ENSG00000135902		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1965	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, delta (muscle)"""	100720	"""cholinergic receptor, nicotinic, delta"""	ACHRD			Standard	NM_000751		Approved		uc002vsw.4	Q07001	OTTHUMG00000133261	ENST00000258385.3:c.429A>C	2.37:g.233393286A>C			A8K661|B4DT92|Q52LH4	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM	p.H53P	ENST00000258385.3	37	c.158	CCDS2494.1	2	.	.	.	.	.	.	.	.	.	.	A	11.79	1.744004	0.30865	.	.	ENSG00000135902	ENST00000457943	D	0.86956	-2.19	4.29	-8.59	0.00893	.	.	.	.	.	T	0.72748	0.3499	.	.	.	0.20196	N	0.999927	B	0.02656	0.0	B	0.01281	0.0	T	0.56105	-0.8034	7	.	.	.	.	9.9221	0.41470	0.5421:0.2258:0.2321:0.0	.	53	B4E3W4	.	P	53	ENSP00000391055:H53P	.	H	+	2	0	CHRND	233101530	0.000000	0.05858	0.408000	0.26446	0.959000	0.62525	-5.032000	0.00158	-2.108000	0.00839	-0.366000	0.07423	CAC	CHRND	-	NULL	ENSG00000135902		0.567	CHRND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRND	HGNC	protein_coding	OTTHUMT00000257038.2	143	0.67	1	A			233393286	233393286	+1	no_errors	ENST00000457943	ensembl	human	known	69_37n	missense	164	17.59	35	SNP	0.140	C
CHRNG	1146	genome.wustl.edu	37	2	233407679	233407679	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:233407679T>G	ENST00000389494.3	+	7	713	c.692T>G	c.(691-693)gTg>gGg	p.V231G	CHRNG_ENST00000389492.3_Missense_Mutation_p.V179G	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	231					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CACCAGAAGGTGGTGTTCTAC	0.617																																						dbGAP											0													198.0	151.0	167.0					2																	233407679		2203	4300	6503	-	-	-	SO:0001583	missense	0			X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.692T>G	2.37:g.233407679T>G	ENSP00000374145:p.Val231Gly		B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.V231G	ENST00000389494.3	37	c.692	CCDS33400.1	2	.	.	.	.	.	.	.	.	.	.	T	24.5	4.537887	0.85917	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.83755	-1.76;-1.76	5.18	5.18	0.71444	Neurotransmitter-gated ion-channel ligand-binding (3);	0.246809	0.34314	N	0.004075	D	0.92635	0.7660	M	0.91090	3.175	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.963;0.994	D	0.94185	0.7435	10	0.72032	D	0.01	.	15.3349	0.74244	0.0:0.0:0.0:1.0	.	179;231	Q14DU4;P07510	.;ACHG_HUMAN	G	231;231;179	ENSP00000374145:V231G;ENSP00000374143:V179G	ENSP00000374143:V179G	V	+	2	0	CHRNG	233115923	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.884000	0.87274	2.096000	0.63516	0.379000	0.24179	GTG	CHRNG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	ENSG00000196811		0.617	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNG	HGNC	protein_coding	OTTHUMT00000330743.1	162	0.60	1	T	NM_005199		233407679	233407679	+1	no_errors	ENST00000389494	ensembl	human	known	69_37n	missense	130	20.25	33	SNP	1.000	G
CHST15	51363	genome.wustl.edu	37	10	125804300	125804300	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:125804300T>G	ENST00000346248.5	-	3	1324	c.682A>C	c.(682-684)Acc>Ccc	p.T228P	CHST15_ENST00000462406.1_5'Flank|CHST15_ENST00000421115.1_Missense_Mutation_p.T228P|CHST15_ENST00000435907.1_Missense_Mutation_p.T228P	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	228					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						GCGTCGAAGGTGGAGCGGAAG	0.637																																						dbGAP											0													106.0	95.0	99.0					10																	125804300		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.682A>C	10.37:g.125804300T>G	ENSP00000333947:p.Thr228Pro		O60338|O60474|Q86VM4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.T228P	ENST00000346248.5	37	c.682	CCDS7638.1	10	.	.	.	.	.	.	.	.	.	.	T	17.77	3.470690	0.63625	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000546346;ENST00000421115	.	.	.	5.65	4.5	0.54988	.	0.283142	0.36854	N	0.002368	T	0.24431	0.0592	N	0.14661	0.345	0.29423	N	0.860434	P;P	0.47604	0.898;0.837	B;B	0.43867	0.434;0.171	T	0.05007	-1.0912	9	0.33940	T	0.23	-38.5356	11.6387	0.51220	0.0:0.0:0.1485:0.8515	.	228;228	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	P	228	.	ENSP00000333947:T228P	T	-	1	0	CHST15	125794290	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	2.371000	0.44248	0.942000	0.37525	-0.316000	0.08728	ACC	CHST15	-	NULL	ENSG00000182022		0.637	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST15	HGNC	protein_coding	OTTHUMT00000050856.1	142	0.67	1	T	NM_015892		125804300	125804300	-1	no_errors	ENST00000346248	ensembl	human	known	69_37n	missense	122	12.06	17	SNP	0.998	G
FNTB	2342	genome.wustl.edu	37	14	65494210	65494210	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:65494210T>G	ENST00000246166.2	+	5	648	c.414T>G	c.(412-414)ggT>ggG	p.G138G	FNTB_ENST00000542227.1_Silent_p.G92G|FNTB_ENST00000447296.2_Silent_p.G172G|CHURC1-FNTB_ENST00000549987.1_Silent_p.G173G|MAX_ENST00000341653.2_Intron|FNTB_ENST00000555742.1_3'UTR	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	138					negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCCCAGAAGGTGGCTTTGGAG	0.502																																						dbGAP											0													200.0	179.0	186.0					14																	65494210		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.414T>G	14.37:g.65494210T>G			B2RDX6|B4E1A0	Silent	SNP	pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase	p.G172	ENST00000246166.2	37	c.516	CCDS9769.1	14																																																																																			CHURC1-FNTB	-	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000125954		0.502	FNTB-001	KNOWN	basic|CCDS	protein_coding	CHURC1-FNTB	HGNC	protein_coding	OTTHUMT00000286392.1	200	0.49	1	T	NM_002028		65494210	65494210	+1	no_errors	ENST00000447296	ensembl	human	known	69_37n	silent	195	13.72	31	SNP	0.969	G
CISD3	284106	genome.wustl.edu	37	17	36887634	36887634	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:36887634T>G	ENST00000439660.2	+	3	270	c.146T>G	c.(145-147)gTg>gGg	p.V49G	RNA5SP440_ENST00000363245.1_RNA|CISD3_ENST00000578573.1_3'UTR	NM_001136498.1	NP_001129970.1	P0C7P0	CISD3_HUMAN	CDGSH iron sulfur domain 3	49						mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)			endometrium(2)	2						CCCATCAAGGTGGAGCTGGTG	0.607																																						dbGAP											0													93.0	104.0	101.0					17																	36887634		692	1591	2283	-	-	-	SO:0001583	missense	0			AK097047	CCDS45662.1	17q12	2007-08-10				ENSG00000277972		"""CDGSH iron sulfur domain containing"""	27578	protein-coding gene	gene with protein product	"""mitoNEET related 2"""	611933				17376863, 17584744	Standard	NM_001136498		Approved	Miner2	uc010wds.1	P0C7P0		ENST00000439660.2:c.146T>G	17.37:g.36887634T>G	ENSP00000391402:p.Val49Gly			Missense_Mutation	SNP	pfam_FeS-contain_CDGSH-typ,smart_FeS-contain_CDGSH-typ_subfam	p.V49G	ENST00000439660.2	37	c.146	CCDS45662.1	17	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254318	0.80135	.	.	ENSG00000230055	ENST00000439660	.	.	.	4.86	4.86	0.63082	Iron sulphur-containing domain, CDGSH-type, subfamily (1);Iron sulphur-containing domain, CDGSH-type (1);	.	.	.	.	D	0.86146	0.5863	H	0.98370	4.215	0.58432	D	0.999996	D	0.58268	0.982	P	0.59825	0.864	D	0.90095	0.4180	8	0.87932	D	0	-2.4626	10.929	0.47207	0.0:0.0:0.0:1.0	.	49	P0C7P0	CISD3_HUMAN	G	49	.	ENSP00000391402:V49G	V	+	2	0	CISD3	34141160	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	4.232000	0.58645	1.838000	0.53458	0.454000	0.30748	GTG	CISD3	-	pfam_FeS-contain_CDGSH-typ,smart_FeS-contain_CDGSH-typ_subfam	ENSG00000230055		0.607	CISD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD3	HGNC	protein_coding	OTTHUMT00000441921.1	127	0.00	0	T			36887634	36887634	+1	no_errors	ENST00000439660	ensembl	human	known	69_37n	missense	95	14.29	16	SNP	1.000	G
CIT	11113	genome.wustl.edu	37	12	120135488	120135488	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:120135488T>G	ENST00000261833.7	-	45	5784	c.5732A>C	c.(5731-5733)cAc>cCc	p.H1911P	CIT_ENST00000392521.2_Missense_Mutation_p.H1953P|RP1-127H14.3_ENST00000535109.1_5'Flank|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1911					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CGGGCCCCGGTGGTGTTCAGT	0.532																																						dbGAP											0													100.0	104.0	103.0					12																	120135488		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.5732A>C	12.37:g.120135488T>G	ENSP00000261833:p.His1911Pro		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.H1911P	ENST00000261833.7	37	c.5732	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.09|13.09	2.134560|2.134560	0.37630|0.37630	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392521;ENST00000261833|ENST00000392520	T;T|.	0.63913|.	-0.05;-0.07|.	4.82|4.82	3.59|3.59	0.41128|0.41128	.|.	0.185142|.	0.47455|.	D|.	0.000235|.	T|T	0.57446|0.57446	0.2054|0.2054	L|L	0.43152|0.43152	1.355|1.355	0.42468|0.42468	D|D	0.992816|0.992816	B;B;B|.	0.06786|.	0.0;0.0;0.001|.	B;B;B|.	0.06405|.	0.0;0.0;0.002|.	T|T	0.55642|0.55642	-0.8109|-0.8109	10|5	0.44086|.	T|.	0.13|.	.|.	12.0538|12.0538	0.53522|0.53522	0.0:0.0:0.143:0.857|0.0:0.0:0.143:0.857	.|.	1953;1911;1429|.	Q2M5E1;O14578;O14578-3|.	.;CTRO_HUMAN;.|.	P|P	1953;1911|1524	ENSP00000376306:H1953P;ENSP00000261833:H1911P|.	ENSP00000261833:H1911P|.	H|T	-|-	2|1	0|0	CIT|CIT	118619871|118619871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	4.582000|4.582000	0.60957|0.60957	1.927000|1.927000	0.55829|0.55829	0.533000|0.533000	0.62120|0.62120	CAC|ACC	CIT	-	pirsf_Citron_Rho-interacting_kinase	ENSG00000122966		0.532	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	160	0.61	1	T	NM_007174		120135488	120135488	-1	no_errors	ENST00000261833	ensembl	human	known	69_37n	missense	115	19.58	28	SNP	1.000	G
CIZ1	25792	genome.wustl.edu	37	9	130928520	130928520	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:130928520A>G	ENST00000393608.1	-	17	2855	c.2653T>C	c.(2653-2655)Tcc>Ccc	p.S885P	CIZ1_ENST00000538431.1_Missense_Mutation_p.S911P|CIZ1_ENST00000372938.5_Missense_Mutation_p.S885P|CIZ1_ENST00000357558.5_Missense_Mutation_p.S857P|CIZ1_ENST00000372948.3_Missense_Mutation_p.S829P|CIZ1_ENST00000372954.1_Missense_Mutation_p.S805P|CIZ1_ENST00000541172.1_Missense_Mutation_p.S784P|CIZ1_ENST00000476727.2_5'Flank|CIZ1_ENST00000277465.4_Missense_Mutation_p.S857P|CIZ1_ENST00000325721.8_Missense_Mutation_p.S856P	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	885					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GGGGGCTGGGAGGGTCGAGCC	0.632																																						dbGAP											0													32.0	36.0	35.0					9																	130928520		2197	4297	6494	-	-	-	SO:0001583	missense	0			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2653T>C	9.37:g.130928520A>G	ENSP00000377232:p.Ser885Pro		A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.S911P	ENST00000393608.1	37	c.2731	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	A	8.142	0.785460	0.16189	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.33865	1.39;1.54;1.53;1.71;1.55;1.96;1.71;1.39;1.54;2.15	4.45	1.43	0.22495	.	0.681568	0.13597	N	0.376141	T	0.10380	0.0254	N	0.00926	-1.1	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.001;0.0;0.001;0.001;0.001;0.004;0.001	B;B;B;B;B;B;B	0.06405	0.001;0.001;0.002;0.001;0.001;0.002;0.001	T	0.26395	-1.0104	10	0.25751	T	0.34	-4.9374	3.6971	0.08368	0.2468:0.2039:0.5493:0.0	.	911;824;829;805;885;856;857	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	P	805;885;911;857;856;824;784;857;829;885;807	ENSP00000362045:S805P;ENSP00000377232:S885P;ENSP00000439244:S911P;ENSP00000350169:S857P;ENSP00000320374:S856P;ENSP00000445057:S784P;ENSP00000277465:S857P;ENSP00000362039:S829P;ENSP00000362029:S885P;ENSP00000398011:S807P	ENSP00000277465:S857P	S	-	1	0	CIZ1	129968341	0.020000	0.18652	0.015000	0.15790	0.839000	0.47603	0.559000	0.23485	0.315000	0.23110	0.459000	0.35465	TCC	CIZ1	-	NULL	ENSG00000148337		0.632	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	108	0.91	1	A	NM_012127		130928520	130928520	-1	no_errors	ENST00000538431	ensembl	human	known	69_37n	missense	110	17.16	23	SNP	0.014	G
CLASRP	11129	genome.wustl.edu	37	19	45556415	45556415	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:45556415T>G	ENST00000221455.3	+	5	457	c.359T>G	c.(358-360)gTg>gGg	p.V120G	CLASRP_ENST00000544944.2_Missense_Mutation_p.V120G|CLASRP_ENST00000391953.4_Missense_Mutation_p.V58G	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	120					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AGAGGCCTGGTGCAGAACGAC	0.557																																						dbGAP											0													86.0	71.0	76.0					19																	45556415		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.359T>G	19.37:g.45556415T>G	ENSP00000221455:p.Val120Gly		B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	pfam_SWAP_N_domain	p.V120G	ENST00000221455.3	37	c.359	CCDS12652.2	19	.	.	.	.	.	.	.	.	.	.	T	23.9	4.468603	0.84533	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000391953;ENST00000544944	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.5	4.5	0.54988	Splicing factor, suppressor of white apricot (1);	0.000000	0.32836	U	0.005591	T	0.48132	0.1483	M	0.72894	2.215	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.999	D;D;D	0.78314	0.991;0.954;0.989	T	0.51395	-0.8711	10	0.87932	D	0	-21.2725	11.8373	0.52333	0.0:0.0:0.0:1.0	.	58;120;120	F8WAG9;F5H0Q6;Q8N2M8	.;.;CLASR_HUMAN	G	120;120;58;120	ENSP00000221455:V120G;ENSP00000375814:V120G;ENSP00000375815:V58G;ENSP00000438702:V120G	ENSP00000221455:V120G	V	+	2	0	CLASRP	50248255	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.535000	0.82014	1.902000	0.55061	0.383000	0.25322	GTG	CLASRP	-	pfam_SWAP_N_domain	ENSG00000104859		0.557	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLASRP	HGNC	protein_coding	OTTHUMT00000316749.1	127	0.76	1	T	NM_007056		45556415	45556415	+1	no_errors	ENST00000221455	ensembl	human	known	69_37n	missense	120	12.41	17	SNP	1.000	G
CLCN2	1181	genome.wustl.edu	37	3	184073188	184073188	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:184073188T>G	ENST00000265593.4	-	12	1471	c.1300A>C	c.(1300-1302)Acc>Ccc	p.T434P	CLCN2_ENST00000344937.7_Missense_Mutation_p.T434P|CLCN2_ENST00000457512.1_Missense_Mutation_p.T434P|CLCN2_ENST00000423355.2_Missense_Mutation_p.T75P|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.T390P|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	434					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ATGACCAGGGTGAGGAAGACG	0.572																																						dbGAP											0													168.0	134.0	146.0					3																	184073188		2203	4300	6503	-	-	-	SO:0001583	missense	0			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1300A>C	3.37:g.184073188T>G	ENSP00000265593:p.Thr434Pro		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.T434P	ENST00000265593.4	37	c.1300	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	t	26.0	4.690914	0.88735	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000423355;ENST00000434054;ENST00000457512	D;D;T;D;D	0.94457	-3.43;-3.43;-0.51;-3.43;-3.43	5.47	5.47	0.80525	Chloride channel, core (2);	0.047144	0.85682	D	0.000000	D	0.96460	0.8845	M	0.65320	2	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.984;0.999;0.998;0.996;0.999	P;D;D;D;D	0.75484	0.904;0.986;0.977;0.942;0.986	D	0.96662	0.9490	10	0.56958	D	0.05	-26.7519	15.2162	0.73267	0.0:0.0:0.0:1.0	.	434;390;434;434;434	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	P	434;434;75;390;434	ENSP00000265593:T434P;ENSP00000345056:T434P;ENSP00000412226:T75P;ENSP00000400425:T390P;ENSP00000391928:T434P	ENSP00000265593:T434P	T	-	1	0	CLCN2	185555882	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.089000	0.63090	0.379000	0.24179	ACC	CLCN2	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000114859		0.572	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	203	0.00	0	T			184073188	184073188	-1	no_errors	ENST00000265593	ensembl	human	known	69_37n	missense	105	15.32	19	SNP	1.000	G
CLCN2	1181	genome.wustl.edu	37	3	184075201	184075201	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:184075201T>G	ENST00000265593.4	-	8	1018	c.847A>C	c.(847-849)Acc>Ccc	p.T283P	CLCN2_ENST00000344937.7_Missense_Mutation_p.T283P|CLCN2_ENST00000457512.1_Missense_Mutation_p.T283P|CLCN2_ENST00000423355.2_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.T239P|CLCN2_ENST00000475279.1_5'Flank	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	283					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)	p.T283S(1)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GCACTGAAGGTGGCAGCGAAG	0.627																																						dbGAP											1	Substitution - Missense(1)	lung(1)											72.0	80.0	77.0					3																	184075201		2203	4300	6503	-	-	-	SO:0001583	missense	0			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.847A>C	3.37:g.184075201T>G	ENSP00000265593:p.Thr283Pro		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.T283P	ENST00000265593.4	37	c.847	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	t	20.3	3.970705	0.74246	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	5.3	5.3	0.74995	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.97275	0.9109	M	0.85462	2.755	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.99;1.0;0.998;0.996;0.998	D	0.97929	1.0319	10	0.72032	D	0.01	-27.9759	14.2482	0.66001	0.0:0.0:0.0:1.0	.	283;239;283;283;283	B4DYE3;E9PBD9;E9PCD2;P51788-3;P51788	.;.;.;.;CLCN2_HUMAN	P	283;283;239;283	ENSP00000265593:T283P;ENSP00000345056:T283P;ENSP00000400425:T239P;ENSP00000391928:T283P	ENSP00000265593:T283P	T	-	1	0	CLCN2	185557895	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.980000	0.88113	2.010000	0.58986	0.459000	0.35465	ACC	CLCN2	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000114859		0.627	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	96	0.00	0	T			184075201	184075201	-1	no_errors	ENST00000265593	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	1.000	G
CLCN6	1185	genome.wustl.edu	37	1	11897515	11897515	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:11897515A>C	ENST00000346436.6	+	20	2306	c.2254A>C	c.(2254-2256)Acc>Ccc	p.T752P	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.T752P|CLCN6_ENST00000376487.3_Missense_Mutation_p.T730P	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	752					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCTTGTCACCCTGCTTGT	0.582																																						dbGAP											0													99.0	86.0	90.0					1																	11897515		2203	4300	6503	-	-	-	SO:0001583	missense	0			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.2254A>C	1.37:g.11897515A>C	ENSP00000234488:p.Thr752Pro		A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.T752P	ENST00000346436.6	37	c.2254	CCDS138.1	1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.537202	0.85812	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.88046	-2.33;-2.33;-2.33	4.94	4.94	0.65067	.	0.141813	0.64402	D	0.000006	T	0.80308	0.4599	L	0.34521	1.04	0.80722	D	1	P;P	0.44946	0.846;0.761	B;B	0.39258	0.295;0.154	T	0.80241	-0.1464	10	0.33940	T	0.23	-31.657	13.9381	0.64036	1.0:0.0:0.0:0.0	.	730;752	F8W9R3;P51797	.;CLCN6_HUMAN	P	752;730;752	ENSP00000234488:T752P;ENSP00000365670:T730P;ENSP00000365679:T752P	ENSP00000234488:T752P	T	+	1	0	CLCN6	11820102	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.761000	0.91691	2.076000	0.62316	0.459000	0.35465	ACC	CLCN6	-	NULL	ENSG00000011021		0.582	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	102	0.95	1	A	NM_001286		11897515	11897515	+1	no_errors	ENST00000346436	ensembl	human	known	69_37n	missense	55	20.29	14	SNP	1.000	C
CLDN14	23562	genome.wustl.edu	37	21	37833355	37833355	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:37833355T>G	ENST00000399137.1	-	3	1505	c.639A>C	c.(637-639)ccA>ccC	p.P213P	AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399135.1_Silent_p.P213P|CLDN14_ENST00000342108.2_Silent_p.P213P|CLDN14_ENST00000399139.1_Silent_p.P213P|AP000695.4_ENST00000454980.1_RNA|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000399136.1_Silent_p.P213P	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	213					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|lung(5)|skin(1)	7						AGGCAGCTGGTGGCTGGTAGG	0.647																																						dbGAP											0													97.0	86.0	90.0					21																	37833355		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ132445	CCDS13645.1	21q22.3	2008-07-31			ENSG00000159261	ENSG00000159261		"""Claudins"""	2035	protein-coding gene	gene with protein product		605608		DFNB29		11163249	Standard	NM_144492		Approved		uc002yvk.2	O95500	OTTHUMG00000086638	ENST00000399137.1:c.639A>C	21.37:g.37833355T>G				Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14,prints_Claudin,prints_Claudin2	p.P213	ENST00000399137.1	37	c.639	CCDS13645.1	21																																																																																			CLDN14	-	NULL	ENSG00000159261		0.647	CLDN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN14	HGNC	protein_coding	OTTHUMT00000194697.1	140	0.71	1	T	NM_144492		37833355	37833355	-1	no_errors	ENST00000342108	ensembl	human	known	69_37n	silent	188	17.18	39	SNP	0.000	G
CLDN19	149461	genome.wustl.edu	37	1	43204090	43204090	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:43204090A>C	ENST00000296387.1	-	2	579		c.e2+1		CLDN19_ENST00000539749.1_Splice_Site|CLDN19_ENST00000372539.3_Splice_Site	NM_001123395.1|NM_148960.2	NP_001116867.1|NP_683763.2	Q8N6F1	CLD19_HUMAN	claudin 19						apical junction assembly (GO:0043297)|calcium-independent cell-cell adhesion (GO:0016338)|neuronal action potential propagation (GO:0019227)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	apical junction complex (GO:0043296)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGGGCACTCACCTGCCAGGA	0.647																																						dbGAP											0													75.0	71.0	72.0					1																	43204090		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK096063	CCDS471.1, CCDS44125.1, CCDS53306.1	1p34.2	2008-05-14			ENSG00000164007	ENSG00000164007		"""Claudins"""	2040	protein-coding gene	gene with protein product		610036					Standard	NM_148960		Approved		uc001cht.1	Q8N6F1	OTTHUMG00000007524	ENST00000296387.1:c.388+1T>G	1.37:g.43204090A>C			B7Z5I2|F5H5P9|Q5QT57|Q8N8X0	Splice_Site	SNP	-	e2+2	ENST00000296387.1	37	c.388+2	CCDS471.1	1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359903	0.61403	.	.	ENSG00000164007	ENST00000296387;ENST00000539749;ENST00000372539	.	.	.	4.36	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5623	0.50785	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLDN19	42976677	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	6.189000	0.72051	1.838000	0.53458	0.260000	0.18958	.	CLDN19	-	-	ENSG00000164007		0.647	CLDN19-001	KNOWN	basic|CCDS	protein_coding	CLDN19	HGNC	protein_coding	OTTHUMT00000019788.1	102	0.94	1	A	NM_148960	Intron	43204090	43204090	-1	no_errors	ENST00000296387	ensembl	human	known	69_37n	splice_site	34	17.07	7	SNP	1.000	C
CLDN6	9074	genome.wustl.edu	37	16	3065928	3065928	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:3065928A>C	ENST00000396925.1	-	3	523	c.95T>G	c.(94-96)gTg>gGg	p.V32G	CLDN6_ENST00000328796.4_Missense_Mutation_p.V32G|TNFRSF12A_ENST00000573001.1_5'Flank|CLDN6_ENST00000572154.1_Splice_Site			P56747	CLD6_HUMAN	claudin 6	32					calcium-independent cell-cell adhesion (GO:0016338)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GAAAGCGGTCACCTTCCACAT	0.637																																						dbGAP											0													125.0	98.0	107.0					16																	3065928		2198	4300	6498	-	-	-	SO:0001583	missense	0			AJ249735	CCDS10488.1	16p13.3	2008-08-01			ENSG00000184697	ENSG00000184697		"""Claudins"""	2048	protein-coding gene	gene with protein product		615798				9892664, 18234789	Standard	NM_021195		Approved		uc002csu.4	P56747	OTTHUMG00000128999	ENST00000396925.1:c.95T>G	16.37:g.3065928A>C	ENSP00000380131:p.Val32Gly		B3KQP9|D3DUA5	Splice_Site	SNP	-	e1+2	ENST00000396925.1	37	c.93+2	CCDS10488.1	16	.	.	.	.	.	.	.	.	.	.	A	13.65	2.301022	0.40694	.	.	ENSG00000184697	ENST00000396925;ENST00000328796	D;D	0.90620	-2.7;-2.7	4.47	4.47	0.54385	.	0.077755	0.51477	D	0.000099	D	0.96842	0.8969	H	0.98487	4.245	0.80722	D	1	D	0.61697	0.99	D	0.67725	0.953	D	0.97544	1.0088	10	0.72032	D	0.01	.	12.0113	0.53289	1.0:0.0:0.0:0.0	.	32	P56747	CLD6_HUMAN	G	32	ENSP00000380131:V32G;ENSP00000328674:V32G	ENSP00000328674:V32G	V	-	2	0	CLDN6	3005929	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.313000	0.59160	1.998000	0.58463	0.533000	0.62120	GTG	CLDN6	-	-	ENSG00000184697		0.637	CLDN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN6	HGNC	protein_coding	OTTHUMT00000250988.1	163	0.60	1	A	NM_021195		3065928	3065928	-1	no_errors	ENST00000572154	ensembl	human	putative	69_37n	splice_site	94	18.80	22	SNP	1.000	C
CLDND2	125875	genome.wustl.edu	37	19	51871824	51871824	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:51871824A>C	ENST00000291715.1	-	1	433	c.8T>G	c.(7-9)gTg>gGg	p.V3G	CTD-2616J11.11_ENST00000600067.1_5'Flank|CLDND2_ENST00000601435.1_Missense_Mutation_p.V3G|ETFB_ENST00000309244.4_5'Flank	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	3						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTCCGCTTCACCCCCATGCC	0.672																																						dbGAP											0													46.0	40.0	42.0					19																	51871824		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC029518	CCDS12829.1	19q13.41	2008-02-05				ENSG00000160318			28511	protein-coding gene	gene with protein product						12477932	Standard	NM_152353		Approved	MGC33839	uc002pwi.1	Q8NHS1		ENST00000291715.1:c.8T>G	19.37:g.51871824A>C	ENSP00000291715:p.Val3Gly			Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin	p.V3G	ENST00000291715.1	37	c.8	CCDS12829.1	19	.	.	.	.	.	.	.	.	.	.	A	19.79	3.893190	0.72524	.	.	ENSG00000160318	ENST00000291715	D	0.97016	-4.21	4.26	4.26	0.50523	.	0.529435	0.15536	N	0.257230	D	0.96984	0.9015	M	0.65975	2.015	0.51767	D	0.999937	D	0.69078	0.997	P	0.61397	0.888	D	0.96447	0.9331	10	0.87932	D	0	-5.8844	10.0685	0.42319	1.0:0.0:0.0:0.0	.	3	Q8NHS1	CLDN2_HUMAN	G	3	ENSP00000291715:V3G	ENSP00000291715:V3G	V	-	2	0	CLDND2	56563636	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	2.797000	0.47877	1.695000	0.51148	0.459000	0.35465	GTG	CLDND2	-	NULL	ENSG00000160318		0.672	CLDND2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLDND2	HGNC	protein_coding	OTTHUMT00000464268.1	54	0.00	0	A	NM_152353		51871824	51871824	-1	no_errors	ENST00000291715	ensembl	human	known	69_37n	missense	30	28.57	12	SNP	1.000	C
CLINT1	9685	genome.wustl.edu	37	5	157218852	157218852	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:157218852T>G	ENST00000411809.2	-	10	1443	c.1239A>C	c.(1237-1239)ccA>ccC	p.P413P	CLINT1_ENST00000296951.5_Silent_p.P395P|CLINT1_ENST00000523908.1_Silent_p.P413P|CLINT1_ENST00000523094.1_Silent_p.P395P|CLINT1_ENST00000530742.1_Silent_p.P395P	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	413					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGCAGGAGGTGGGCCTAGAG	0.517																																					Colon(22;427 587 2170 6147 14291)	dbGAP											0													83.0	90.0	87.0					5																	157218852		2078	4219	6297	-	-	-	SO:0001819	synonymous_variant	0			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.1239A>C	5.37:g.157218852T>G			B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	NULL	p.T105P	ENST00000411809.2	37	c.313	CCDS47330.1	5	.	.	.	.	.	.	.	.	.	.	T	9.625	1.134940	0.21123	.	.	ENSG00000113282	ENST00000521615	.	.	.	5.57	1.42	0.22433	.	.	.	.	.	T	0.43299	0.1241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25537	-1.0129	4	.	.	.	-11.066	2.1666	0.03839	0.2284:0.305:0.0:0.4666	.	.	.	.	P	105	.	.	T	-	1	0	CLINT1	157151430	0.397000	0.25270	0.784000	0.31847	0.899000	0.52679	-0.096000	0.11059	0.453000	0.26858	0.528000	0.53228	ACC	CLINT1	-	NULL	ENSG00000113282		0.517	CLINT1-001	KNOWN	basic|CCDS	protein_coding	CLINT1	HGNC	protein_coding	OTTHUMT00000374001.1	198	0.50	1	T	NM_014666		157218852	157218852	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000521615	ensembl	human	novel	69_37n	missense	85	19.81	21	SNP	0.991	G
CLINT1	9685	genome.wustl.edu	37	5	157230673	157230673	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:157230673T>G	ENST00000411809.2	-	8	1201	c.997A>C	c.(997-999)Acc>Ccc	p.T333P	CLINT1_ENST00000296951.5_Missense_Mutation_p.T315P|CLINT1_ENST00000523908.1_Missense_Mutation_p.T333P|CLINT1_ENST00000523094.1_Missense_Mutation_p.T315P|CLINT1_ENST00000530742.1_Missense_Mutation_p.T315P	NM_014666.3	NP_055481.1	Q14677	EPN4_HUMAN	clathrin interactor 1	333					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)	clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|lipid binding (GO:0008289)			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACTGGCTGGTGCCATCAAAC	0.373																																					Colon(22;427 587 2170 6147 14291)	dbGAP											0													36.0	38.0	37.0					5																	157230673		1855	4103	5958	-	-	-	SO:0001583	missense	0			AF434813	CCDS47330.1, CCDS56388.1, CCDS56389.1	5q33.3	2006-06-13			ENSG00000113282	ENSG00000113282			23186	protein-coding gene	gene with protein product		607265				12213833, 12429846	Standard	NM_014666		Approved	ENTH, KIAA0171, EPNR, CLINT	uc011ddv.2	Q14677	OTTHUMG00000163527	ENST00000411809.2:c.997A>C	5.37:g.157230673T>G	ENSP00000388340:p.Thr333Pro		B7Z6F8|D3DQJ6|Q8NAF1|Q96E05	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.T315P	ENST00000411809.2	37	c.943	CCDS47330.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.49|12.49	1.954703|1.954703	0.34471|0.34471	.|.	.|.	ENSG00000113282|ENSG00000113282	ENST00000521615|ENST00000523094;ENST00000530742;ENST00000411809;ENST00000296951;ENST00000523908	.|T;T;T;T;T	.|0.40756	.|1.02;1.02;1.03;1.02;1.04	5.82|5.82	-2.81|-2.81	0.05805|0.05805	.|.	.|1.645690	.|0.02858	.|N	.|0.129917	T|T	0.24890|0.24890	0.0604|0.0604	L|L	0.34521|0.34521	1.04|1.04	0.21675|0.21675	N|N	0.999592|0.999592	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.04840|0.04840	-1.0923|-1.0923	5|10	.|0.12430	.|T	.|0.62	-17.9807|-17.9807	0.0547|0.0547	0.00013|0.00013	0.3198:0.2062:0.2179:0.256|0.3198:0.2062:0.2179:0.256	.|.	.|333;333	.|B7Z6F8;Q14677	.|.;EPN4_HUMAN	P|P	49|315;315;333;315;333	.|ENSP00000429345:T315P;ENSP00000433419:T315P;ENSP00000388340:T333P;ENSP00000296951:T315P;ENSP00000429824:T333P	.|ENSP00000296951:T315P	H|T	-|-	2|1	0|0	CLINT1|CLINT1	157163251|157163251	0.011000|0.011000	0.17503|0.17503	0.895000|0.895000	0.35142|0.35142	0.997000|0.997000	0.91878|0.91878	-0.077000|-0.077000	0.11394|0.11394	-0.734000|-0.734000	0.04843|0.04843	0.529000|0.529000	0.55759|0.55759	CAC|ACC	CLINT1	-	NULL	ENSG00000113282		0.373	CLINT1-001	KNOWN	basic|CCDS	protein_coding	CLINT1	HGNC	protein_coding	OTTHUMT00000374001.1	126	0.00	0	T	NM_014666		157230673	157230673	-1	no_errors	ENST00000296951	ensembl	human	known	69_37n	missense	46	36.99	27	SNP	0.714	G
CLIP1	6249	genome.wustl.edu	37	12	122812693	122812693	+	Missense_Mutation	SNP	G	G	T	rs77289752	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:122812693G>T	ENST00000540338.1	-	16	3091	c.3050C>A	c.(3049-3051)aCa>aAa	p.T1017K	CLIP1_ENST00000358808.2_Missense_Mutation_p.T1006K|CLIP1_ENST00000545889.1_Missense_Mutation_p.T592K|CLIP1_ENST00000537178.1_Missense_Mutation_p.T971K|CLIP1_ENST00000302528.7_Missense_Mutation_p.T1006K|CLIP1_ENST00000361654.4_Missense_Mutation_p.T895K			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1017					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)		GTTGTGGCTTGTTTCCATTTT	0.502													G|||	488	0.0974441	0.1316	0.1167	5008	,	,		19312	0.0655		0.0795	False		,,,				2504	0.089					dbGAP											0													152.0	153.0	153.0					12																	122812693		2203	4300	6503	-	-	-	SO:0001583	missense	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.3050C>A	12.37:g.122812693G>T	ENSP00000439093:p.Thr1017Lys		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.T1017K	ENST00000540338.1	37	c.3050	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	G	0.284	-0.984294	0.02180	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.49432	2.96;0.79;0.79;0.8;0.78	5.35	-0.637	0.11504	.	1.166520	0.06091	N	0.663628	T	0.25195	0.0612	N	0.16368	0.405	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.19321	-1.0309	10	0.05436	T	0.98	0.7372	5.8611	0.18747	0.2494:0.1063:0.5385:0.1059	.	971;1006;1017	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	K	592;1006;1006;736;48;971;1017	ENSP00000438743:T592K;ENSP00000303585:T1006K;ENSP00000351665:T1006K;ENSP00000445531:T971K;ENSP00000439093:T1017K	ENSP00000303585:T1006K	T	-	2	0	CLIP1	121378646	0.000000	0.05858	0.033000	0.17914	0.874000	0.50279	-0.339000	0.07832	-0.273000	0.09246	0.655000	0.94253	ACA	CLIP1	-	NULL	ENSG00000130779		0.502	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	193	0.00	0	G	NM_002956		122812693	122812693	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	missense	261	16.08	50	SNP	0.001	T
CLN3	1201	genome.wustl.edu	37	16	28493927	28493927	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:28493927A>C	ENST00000569430.1	-	12	1657				CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357857.9_Intron|CLN3_ENST00000535392.1_Intron|CLN3_ENST00000354630.5_Splice_Site|CLN3_ENST00000568224.1_Intron|CLN3_ENST00000565316.1_Splice_Site|CLN3_ENST00000395653.4_Intron|CLN3_ENST00000360019.2_Intron|CLN3_ENST00000355477.5_Intron|CLN3_ENST00000333496.9_Intron|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000359984.7_Intron			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3						action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ACAGGGACATACCCCAGCCAT	0.562																																						dbGAP											0													98.0	96.0	97.0					16																	28493927		2197	4300	6497	-	-	-	SO:0001627	intron_variant	0			U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.837+19T>G	16.37:g.28493927A>C			B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Splice_Site	SNP	-	e10+2	ENST00000569430.1	37	c.855+2	CCDS10632.1	16	.	.	.	.	.	.	.	.	.	.	a	12.76	2.033473	0.35893	.	.	ENSG00000188603	ENST00000354630	.	.	.	4.78	-1.02	0.10135	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.8136	0.01098	0.4538:0.1607:0.2277:0.1579	.	.	.	.	.	-1	.	.	.	-	.	.	CLN3	28401428	0.000000	0.05858	0.001000	0.08648	0.658000	0.38924	-0.157000	0.10085	-0.035000	0.13691	0.414000	0.27820	.	CLN3	-	-	ENSG00000188603		0.562	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN3	HGNC	protein_coding	OTTHUMT00000214115.2	224	0.44	1	A			28493927	28493927	-1	no_errors	ENST00000354630	ensembl	human	known	69_37n	splice_site	175	11.56	23	SNP	0.000	C
CLN6	54982	genome.wustl.edu	37	15	68504065	68504065	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:68504065T>G	ENST00000249806.5	-	4	591	c.434A>C	c.(433-435)cAc>cCc	p.H145P	RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000564752.1_Missense_Mutation_p.H145P|CLN6_ENST00000418702.2_Intron|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000538696.1_Missense_Mutation_p.H177P|CLN6_ENST00000566347.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	145					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GACAGACAGGTGGTGCTGGTA	0.572																																						dbGAP											0													126.0	125.0	125.0					15																	68504065		2200	4298	6498	-	-	-	SO:0001583	missense	0			AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.434A>C	15.37:g.68504065T>G	ENSP00000249806:p.His145Pro		A8K560|B4DDH6|Q6IAB1|Q96SR0	Missense_Mutation	SNP	NULL	p.H145P	ENST00000249806.5	37	c.434	CCDS10227.1	15	.	.	.	.	.	.	.	.	.	.	T	26.0	4.692267	0.88735	.	.	ENSG00000128973	ENST00000249806;ENST00000538696	D;D	0.95821	-3.82;-3.82	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.96034	0.8708	L	0.61218	1.895	0.80722	D	1	D;D	0.59767	0.986;0.974	P;P	0.54174	0.744;0.663	D	0.96428	0.9317	10	0.87932	D	0	-45.2326	14.9797	0.71303	0.0:0.0:0.0:1.0	.	177;145	B4DDH6;Q9NWW5	.;CLN6_HUMAN	P	145;177	ENSP00000249806:H145P;ENSP00000445770:H177P	ENSP00000249806:H145P	H	-	2	0	CLN6	66291119	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.570000	0.82390	1.935000	0.56089	0.418000	0.28097	CAC	CLN6	-	NULL	ENSG00000128973		0.572	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN6	HGNC	protein_coding	OTTHUMT00000257066.1	106	0.00	0	T	NM_017882		68504065	68504065	-1	no_errors	ENST00000249806	ensembl	human	known	69_37n	missense	64	17.95	14	SNP	1.000	G
CLSTN3	9746	genome.wustl.edu	37	12	7293957	7293957	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:7293957A>C	ENST00000266546.6	+	9	1893	c.1443A>C	c.(1441-1443)ccA>ccC	p.P481P	CLSTN3_ENST00000537408.1_Silent_p.P493P	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	481					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TCATCCACCCACCCCGAAGGG	0.572											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													232.0	182.0	199.0					12																	7293957		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.1443A>C	12.37:g.7293957A>C		640	D3DUT6|O94831|Q2T9J5|Q5UE57	Silent	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P481	ENST00000266546.6	37	c.1443	CCDS8575.1	12																																																																																			CLSTN3	-	superfamily_ConA-like_lec_gl	ENSG00000139182		0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2	124	0.78	1	A	NM_014718		7293957	7293957	+1	no_errors	ENST00000266546	ensembl	human	known	69_37n	silent	131	16.03	25	SNP	0.001	C
CNDP2	55748	genome.wustl.edu	37	18	72179684	72179684	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:72179684T>G	ENST00000324262.4	+	7	975	c.659T>G	c.(658-660)gTg>gGg	p.V220G	CNDP2_ENST00000579847.1_Splice_Site_p.V220G|CNDP2_ENST00000324301.8_Splice_Site_p.V136G	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	220					cellular nitrogen compound metabolic process (GO:0034641)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		TCCGTGCAGGTGGAGTGCAGC	0.502																																						dbGAP											0													165.0	134.0	144.0					18																	72179684		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK001692	CCDS12006.1, CCDS54190.1	18q22.3	2014-07-14	2004-07-12		ENSG00000133313	ENSG00000133313	3.4.13.18		24437	protein-coding gene	gene with protein product	"""cytosolic nonspecific dipeptidase"""	169800	"""peptidase A"""	PEPA		12473676	Standard	NM_018235		Approved	FLJ10830, CN2, HsT2298, CPGL	uc002llm.2	Q96KP4	OTTHUMG00000132853	ENST00000324262.4:c.658-1T>G	18.37:g.72179684T>G			B3KUG4|Q8WY59|Q9BQ94|Q9NVB4	Missense_Mutation	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	p.V220G	ENST00000324262.4	37	c.659	CCDS12006.1	18	.	.	.	.	.	.	.	.	.	.	T	13.70	2.314594	0.40996	.	.	ENSG00000133313	ENST00000324262;ENST00000324301	T	0.30182	1.54	5.14	5.14	0.70334	Peptidase M20, dimerisation (1);	0.059447	0.64402	D	0.000002	T	0.68293	0.2985	H	0.96301	3.8	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.989;0.988;0.996	T	0.79983	-0.1573	10	0.87932	D	0	-2.4353	14.9846	0.71336	0.0:0.0:0.0:1.0	.	125;136;220	B4DPF1;Q96KP4-2;Q96KP4	.;.;CNDP2_HUMAN	G	220;136	ENSP00000325548:V220G	ENSP00000325548:V220G	V	+	2	0	CNDP2	70330664	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	6.073000	0.71245	1.944000	0.56390	0.533000	0.62120	GTG	CNDP2	-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1	ENSG00000133313		0.502	CNDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNDP2	HGNC	protein_coding	OTTHUMT00000256327.1	216	0.92	2	T	NM_018235	Missense_Mutation	72179684	72179684	+1	no_errors	ENST00000324262	ensembl	human	known	69_37n	missense	171	14.07	28	SNP	1.000	G
CNGB1	1258	genome.wustl.edu	37	16	57965657	57965657	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:57965657T>G	ENST00000251102.8	-	17	1558	c.1498A>C	c.(1498-1500)Acc>Ccc	p.T500P	CNGB1_ENST00000564654.1_5'Flank|CNGB1_ENST00000564448.1_Missense_Mutation_p.T494P	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	500					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ACTATAAGGGTGTCTGATTTG	0.532																																					Colon(156;1293 1853 16336 28962 38659)	dbGAP											0													89.0	97.0	95.0					16																	57965657		1980	4185	6165	-	-	-	SO:0001583	missense	0			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1498A>C	16.37:g.57965657T>G	ENSP00000251102:p.Thr500Pro		H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.T500P	ENST00000251102.8	37	c.1498	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	T	15.65	2.894988	0.52121	.	.	ENSG00000070729	ENST00000251102	T	0.28069	1.63	5.48	5.48	0.80851	.	0.000000	0.50627	D	0.000115	T	0.54127	0.1839	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.55685	-0.8102	10	0.49607	T	0.09	.	12.2451	0.54566	0.0:0.0:0.0:1.0	.	500	Q14028	CNGB1_HUMAN	P	500	ENSP00000251102:T500P	ENSP00000251102:T500P	T	-	1	0	CNGB1	56523158	1.000000	0.71417	1.000000	0.80357	0.039000	0.13416	3.595000	0.54016	2.215000	0.71742	0.460000	0.39030	ACC	CNGB1	-	NULL	ENSG00000070729		0.532	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	204	0.00	0	T	NM_001297		57965657	57965657	-1	no_errors	ENST00000251102	ensembl	human	known	69_37n	missense	92	17.12	19	SNP	1.000	G
CNNM4	26504	genome.wustl.edu	37	2	97465296	97465296	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:97465296T>G	ENST00000377075.2	+	5	1957	c.1859T>G	c.(1858-1860)gTg>gGg	p.V620G	MIR3127_ENST00000583925.1_RNA|CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Missense_Mutation_p.V107G	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	620					biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CAGGGGAAGGTGGAGGTGGAG	0.567																																						dbGAP											0													88.0	79.0	82.0					2																	97465296		2190	4272	6462	-	-	-	SO:0001583	missense	0			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.1859T>G	2.37:g.97465296T>G	ENSP00000366275:p.Val620Gly		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Missense_Mutation	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.V620G	ENST00000377075.2	37	c.1859	CCDS2024.2	2	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614814	0.87359	.	.	ENSG00000158158	ENST00000377075;ENST00000540067	T	0.59364	0.27	5.02	5.02	0.67125	RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.070424	0.56097	D	0.000029	T	0.79203	0.4406	M	0.88842	2.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.991	D	0.83695	0.0179	10	0.87932	D	0	-17.4574	14.0309	0.64615	0.0:0.0:0.0:1.0	.	107;620	B7Z1U0;Q6P4Q7	.;CNNM4_HUMAN	G	620;107	ENSP00000366275:V620G	ENSP00000366275:V620G	V	+	2	0	CNNM4	96829023	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.040000	0.89188	2.017000	0.59298	0.459000	0.35465	GTG	CNNM4	-	superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000158158		0.567	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1	229	0.43	1	T	NM_020184		97465296	97465296	+1	no_errors	ENST00000377075	ensembl	human	known	69_37n	missense	224	10.36	26	SNP	1.000	G
CNOT1	23019	genome.wustl.edu	37	16	58579343	58579343	+	Silent	SNP	T	T	G	rs368118724		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:58579343T>G	ENST00000317147.5	-	30	4391	c.4059A>C	c.(4057-4059)ccA>ccC	p.P1353P	CNOT1_ENST00000569240.1_Silent_p.P1348P|CNOT1_ENST00000441024.2_Silent_p.P1353P|CNOT1_ENST00000245138.4_Silent_p.P204P	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1353	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ACTGTGGCTGTGGTGGAACCG	0.428																																						dbGAP											0													239.0	190.0	206.0					16																	58579343		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.4059A>C	16.37:g.58579343T>G			Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	NULL	p.T60P	ENST00000317147.5	37	c.178	CCDS10799.1	16																																																																																			CNOT1	-	NULL	ENSG00000125107		0.428	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNOT1	HGNC	protein_coding	OTTHUMT00000257385.3	361	0.28	1	T	NM_016284		58579343	58579343	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000567133	ensembl	human	novel	69_37n	missense	280	13.27	43	SNP	0.988	G
CNTFR	1271	genome.wustl.edu	37	9	34552233	34552233	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:34552233T>G	ENST00000378980.3	-	9	1337	c.1044A>C	c.(1042-1044)gcA>gcC	p.A348A	CNTFR_ENST00000351266.4_Silent_p.A348A	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	348					brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		CCAAGAAGGGTGCCGAGGGTC	0.672																																						dbGAP											0													18.0	22.0	21.0					9																	34552233		2163	4254	6417	-	-	-	SO:0001819	synonymous_variant	0			M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.1044A>C	9.37:g.34552233T>G			Q5U050	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A348	ENST00000378980.3	37	c.1044	CCDS6558.1	9																																																																																			CNTFR	-	NULL	ENSG00000122756		0.672	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNTFR	HGNC	protein_coding	OTTHUMT00000052176.1	39	0.00	0	T			34552233	34552233	-1	no_errors	ENST00000351266	ensembl	human	known	69_37n	silent	22	37.14	13	SNP	0.002	G
CNTN3	5067	genome.wustl.edu	37	3	74347270	74347270	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:74347270T>G	ENST00000263665.6	-	17	2266	c.2239A>C	c.(2239-2241)Acc>Ccc	p.T747P		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	747	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGGATCCAGGTGGTAACCCCA	0.458																																						dbGAP											0													159.0	155.0	156.0					3																	74347270		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2239A>C	3.37:g.74347270T>G	ENSP00000263665:p.Thr747Pro		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T747P	ENST00000263665.6	37	c.2239	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	T	14.43	2.533003	0.45073	.	.	ENSG00000113805	ENST00000263665	T	0.57107	0.42	5.79	4.63	0.57726	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.341930	0.33753	N	0.004599	T	0.46171	0.1379	L	0.45470	1.425	0.09310	N	1	B	0.06786	0.001	B	0.19666	0.026	T	0.37197	-0.9716	10	0.38643	T	0.18	.	11.8082	0.52167	0.0:0.0684:0.0:0.9316	.	747	Q9P232	CNTN3_HUMAN	P	747	ENSP00000263665:T747P	ENSP00000263665:T747P	T	-	1	0	CNTN3	74429960	0.011000	0.17503	0.991000	0.47740	0.998000	0.95712	1.852000	0.39348	1.014000	0.39417	0.533000	0.62120	ACC	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.458	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	271	0.37	1	T	NM_020872		74347270	74347270	-1	no_errors	ENST00000263665	ensembl	human	known	69_37n	missense	222	11.16	28	SNP	0.005	G
CNTN3	5067	genome.wustl.edu	37	3	74350638	74350638	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:74350638A>C	ENST00000263665.6	-	15	2033	c.2006T>G	c.(2005-2007)gTg>gGg	p.V669G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	669	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTCATATTCCACCCATGGGTT	0.438																																						dbGAP											0													126.0	124.0	124.0					3																	74350638		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2006T>G	3.37:g.74350638A>C	ENSP00000263665:p.Val669Gly		B9EK50|Q9H039	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V669G	ENST00000263665.6	37	c.2006	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	A	22.1	4.248399	0.80024	.	.	ENSG00000113805	ENST00000263665	T	0.57752	0.38	6.08	4.9	0.64082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.70413	0.3221	M	0.76328	2.33	0.80722	D	1	P	0.51147	0.942	D	0.64410	0.925	T	0.73550	-0.3947	10	0.87932	D	0	.	13.4457	0.61140	0.8692:0.1308:0.0:0.0	.	669	Q9P232	CNTN3_HUMAN	G	669	ENSP00000263665:V669G	ENSP00000263665:V669G	V	-	2	0	CNTN3	74433328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.615000	0.90920	1.078000	0.41014	0.482000	0.46254	GTG	CNTN3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.438	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	180	0.55	1	A	NM_020872		74350638	74350638	-1	no_errors	ENST00000263665	ensembl	human	known	69_37n	missense	234	15.22	42	SNP	1.000	C
CNTNAP2	26047	genome.wustl.edu	37	7	147183118	147183118	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:147183118G>C	ENST00000361727.3	+	11	2278	c.1762G>C	c.(1762-1764)Gcc>Ccc	p.A588P		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	588	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			ATACAGTGGGGCCACCTGCCA	0.468										HNSCC(39;0.1)																												dbGAP											0													104.0	96.0	99.0					7																	147183118		2203	4300	6503	-	-	-	SO:0001583	missense	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.1762G>C	7.37:g.147183118G>C	ENSP00000354778:p.Ala588Pro		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	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.A588P	ENST00000361727.3	37	c.1762	CCDS5889.1	7	.	.	.	.	.	.	.	.	.	.	G	16.75	3.210774	0.58343	.	.	ENSG00000174469	ENST00000361727	T	0.17528	2.27	5.89	4.99	0.66335	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.090297	0.46145	D	0.000312	T	0.20333	0.0489	L	0.58354	1.805	0.80722	D	1	B	0.13145	0.007	B	0.17722	0.019	T	0.01945	-1.1242	10	0.33141	T	0.24	.	14.9127	0.70770	0.0:0.0:0.8557:0.1443	.	588	Q9UHC6	CNTP2_HUMAN	P	588	ENSP00000354778:A588P	ENSP00000354778:A588P	A	+	1	0	CNTNAP2	146814051	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.589000	0.74080	1.426000	0.47256	0.655000	0.94253	GCC	CNTNAP2	-	pfam_EGF-like_dom,superfamily_Fibrinogen_a/b/g_C,smart_EGF-like,pfscan_EG-like_dom	ENSG00000174469		0.468	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	93	0.00	0	G			147183118	147183118	+1	no_errors	ENST00000361727	ensembl	human	known	69_37n	missense	79	20.20	20	SNP	1.000	C
CNTRL	11064	genome.wustl.edu	37	9	123912627	123912627	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:123912627A>C	ENST00000373855.1	+	25	4089	c.3829A>C	c.(3829-3831)Acc>Ccc	p.T1277P	CNTRL_ENST00000373847.1_Missense_Mutation_p.T725P|CNTRL_ENST00000238341.5_Missense_Mutation_p.T1277P|CNTRL_ENST00000373850.1_Missense_Mutation_p.T725P			Q7Z7A1	CNTRL_HUMAN	centriolin	1277	Pro-rich.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						CCGACCTCTCACCCCTGGCAC	0.572																																						dbGAP											0													135.0	123.0	127.0					9																	123912627		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.3829A>C	9.37:g.123912627A>C	ENSP00000362962:p.Thr1277Pro		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.T1277P	ENST00000373855.1	37	c.3829	CCDS35118.1	9	.	.	.	.	.	.	.	.	.	.	A	12.96	2.093730	0.36952	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000373851;ENST00000373850;ENST00000373847	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.71	0.75	0.18387	.	.	.	.	.	T	0.21427	0.0516	L	0.44542	1.39	0.09310	N	1	P;B	0.34757	0.467;0.337	B;B	0.25884	0.064;0.029	T	0.09250	-1.0683	9	0.52906	T	0.07	.	8.2585	0.31771	0.3842:0.0:0.6158:0.0	.	1277;1277	F5GZN0;Q7Z7A1	.;CNTRL_HUMAN	P	1277;1277;1277;33;759;725;725	ENSP00000362962:T1277P;ENSP00000238341:T1277P;ENSP00000362956:T725P;ENSP00000362953:T725P	ENSP00000238341:T1277P	T	+	1	0	CNTRL	122952448	0.096000	0.21769	0.333000	0.25482	0.995000	0.86356	1.007000	0.29860	0.133000	0.18654	0.523000	0.50628	ACC	CNTRL	-	NULL	ENSG00000119397		0.572	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	168	0.59	1	A	NM_007018		123912627	123912627	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	missense	139	18.13	31	SNP	0.185	C
COL11A1	1301	genome.wustl.edu	37	1	103468816	103468816	+	Silent	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:103468816T>C	ENST00000370096.3	-	21	2265	c.1953A>G	c.(1951-1953)cgA>cgG	p.R651R	COL11A1_ENST00000512756.1_Silent_p.R535R|COL11A1_ENST00000353414.4_Silent_p.R612R|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000358392.2_Silent_p.R663R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	651	Collagen-like 4.|Collagen-like 5.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCAGCAAACCTCGTGGGCCCT	0.413																																						dbGAP											0													31.0	34.0	33.0					1																	103468816		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1953A>G	1.37:g.103468816T>C			B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.R663	ENST00000370096.3	37	c.1989	CCDS778.1	1																																																																																			COL11A1	-	NULL	ENSG00000060718		0.413	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	104	0.00	0	T	NM_080630		103468816	103468816	-1	no_errors	ENST00000358392	ensembl	human	known	69_37n	silent	89	12.75	13	SNP	1.000	C
COL11A2	1302	genome.wustl.edu	37	6	33154351	33154351	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:33154351T>G	ENST00000395194.1	-	5	1064	c.851A>C	c.(850-852)cAc>cCc	p.H284P	COL11A2_ENST00000374708.4_Intron|COL11A2_ENST00000357486.1_Intron|COL11A2_ENST00000341947.2_Intron|COL11A2_ENST00000374712.1_Intron|COL11A2_ENST00000395197.1_Intron|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374713.1_Intron	NM_001163771.1	NP_001157243.1	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1220	Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GATGCCTGGGTGTCTTCCCTC	0.542																																					Melanoma(1;90 116 3946 5341 17093)	dbGAP											0													173.0	158.0	163.0					6																	33154351		692	1591	2283	-	-	-	SO:0001583	missense	0			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000395194.1:c.851A>C	6.37:g.33154351T>G	ENSP00000378620:p.His284Pro		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.H284P	ENST00000395194.1	37	c.851	CCDS54992.1	6	.	.	.	.	.	.	.	.	.	.	T	10.83	1.461606	0.26248	.	.	ENSG00000204248	ENST00000395194	T	0.26518	1.73	3.52	-7.05	0.01573	.	.	.	.	.	T	0.02455	0.0075	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38001	-0.9681	9	0.31617	T	0.26	.	3.9471	0.09353	0.1602:0.5106:0.1251:0.204	.	284	Q7Z6C3	.	P	284	ENSP00000378620:H284P	ENSP00000378620:H284P	H	-	2	0	COL11A2	33262329	0.000000	0.05858	0.000000	0.03702	0.666000	0.39218	-1.658000	0.01977	-1.839000	0.01186	0.363000	0.22086	CAC	COL11A2	-	NULL	ENSG00000204248		0.542	COL11A2-003	PUTATIVE	basic|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000276187.1	251	0.78	2	T			33154351	33154351	-1	no_errors	ENST00000395194	ensembl	human	putative	69_37n	missense	227	13.96	37	SNP	0.000	G
COL13A1	1305	genome.wustl.edu	37	10	71658488	71658488	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:71658488A>C	ENST00000398978.3	+	14	1242	c.750A>C	c.(748-750)ccA>ccC	p.P250P	COL13A1_ENST00000398971.3_Silent_p.P250P|COL13A1_ENST00000398964.3_Silent_p.P221P|COL13A1_ENST00000398974.3_Silent_p.P238P|COL13A1_ENST00000398973.3_Silent_p.P250P|COL13A1_ENST00000520267.1_Silent_p.P193P|COL13A1_ENST00000398969.3_Silent_p.P193P|COL13A1_ENST00000357811.3_Intron|COL13A1_ENST00000398972.3_Silent_p.P250P|COL13A1_ENST00000356340.3_Silent_p.P250P|COL13A1_ENST00000520133.1_Intron|COL13A1_ENST00000398966.3_Intron|COL13A1_ENST00000522165.1_Silent_p.P231P|COL13A1_ENST00000398968.3_Silent_p.P231P|COL13A1_ENST00000517713.1_Intron|COL13A1_ENST00000354547.3_Intron	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1											endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GACTGGCTCCACCCCCGGTCA	0.577																																						dbGAP											0													86.0	84.0	85.0					10																	71658488		2040	4175	6215	-	-	-	SO:0001819	synonymous_variant	0			AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.750A>C	10.37:g.71658488A>C				Silent	SNP	pfam_Collagen	p.P250	ENST00000398978.3	37	c.750	CCDS44419.1	10																																																																																			COL13A1	-	NULL	ENSG00000197467		0.577	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL13A1	HGNC	protein_coding	OTTHUMT00000048468.1	150	0.65	1	A	NM_005203		71658488	71658488	+1	no_errors	ENST00000356340	ensembl	human	known	69_37n	silent	242	12.27	34	SNP	0.979	C
COL16A1	1307	genome.wustl.edu	37	1	32122649	32122649	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:32122649A>C	ENST00000373672.3	-	65	4557	c.4041T>G	c.(4039-4041)ggT>ggG	p.G1347G	RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|COL16A1_ENST00000461217.1_5'Flank|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000588288.1_RNA|COL16A1_ENST00000271069.6_Silent_p.G1347G|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1347	Triple-helical region 2 (COL2) with 2 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)		TGCCAGCTGCACCATCCGTAC	0.527																																					Colon(143;498 1786 21362 25193 36625)	dbGAP											0													136.0	171.0	159.0					1																	32122649		2068	4202	6270	-	-	-	SO:0001819	synonymous_variant	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.4041T>G	1.37:g.32122649A>C			Q16593|Q59F89|Q71RG9	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.G1347	ENST00000373672.3	37	c.4041	CCDS41297.1	1																																																																																			COL16A1	-	NULL	ENSG00000084636		0.527	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	271	0.73	2	A	NM_001856		32122649	32122649	-1	no_errors	ENST00000271069	ensembl	human	known	69_37n	silent	140	23.50	43	SNP	0.455	C
COL16A1	1307	genome.wustl.edu	37	1	32167794	32167794	+	Start_Codon_SNP	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:32167794T>C	ENST00000373672.3	-	2	517	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	COL16A1_ENST00000271069.6_Start_Codon_SNP_p.M1V|COL16A1_ENST00000373668.3_Start_Codon_SNP_p.M1V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1					cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GATACCCACATCCCGGTCCAA	0.567																																					Colon(143;498 1786 21362 25193 36625)	dbGAP											0													70.0	83.0	79.0					1																	32167794		2050	4183	6233	-	-	-	SO:0001582	initiator_codon_variant	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.1A>G	1.37:g.32167794T>C	ENSP00000362776:p.Met1Val		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.M1V	ENST00000373672.3	37	c.1	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	T	15.87	2.960544	0.53400	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.24151	1.87;1.87;1.87	4.42	4.42	0.53409	.	0.000000	0.64402	D	0.000003	T	0.43523	0.1251	.	.	.	0.80722	D	1	P;P	0.45715	0.865;0.713	P;P	0.57620	0.824;0.761	T	0.39563	-0.9608	9	0.87932	D	0	.	10.3451	0.43901	0.0:0.0:0.0:1.0	.	1;1	A6NCT7;Q07092	.;COGA1_HUMAN	V	1	ENSP00000362776:M1V;ENSP00000271069:M1V;ENSP00000362772:M1V	ENSP00000271069:M1V	M	-	1	0	COL16A1	31940381	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.321000	0.51999	2.224000	0.72417	0.533000	0.62120	ATG	COL16A1	-	NULL	ENSG00000084636		0.567	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	163	0.00	0	T	NM_001856	Missense_Mutation	32167794	32167794	-1	no_errors	ENST00000271069	ensembl	human	known	69_37n	missense	91	17.27	19	SNP	1.000	C
COL23A1	91522	genome.wustl.edu	37	5	177669366	177669366	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:177669366A>C	ENST00000390654.3	-	26	1827	c.1470T>G	c.(1468-1470)ggT>ggG	p.G490G		NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	490	Collagen-like 5.|Gly-rich.				collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CGCTCCGATCACCTTTCTCTC	0.597																																						dbGAP											0													56.0	61.0	60.0					5																	177669366		2059	4201	6260	-	-	-	SO:0001819	synonymous_variant	0			AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.1470T>G	5.37:g.177669366A>C			Q8IVR4|Q9NT93	Silent	SNP	pfam_Collagen	p.G490	ENST00000390654.3	37	c.1470	CCDS4436.1	5																																																																																			COL23A1	-	pfam_Collagen	ENSG00000050767		0.597	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL23A1	HGNC	protein_coding	OTTHUMT00000253475.1	127	0.00	0	A	NM_173465		177669366	177669366	-1	no_errors	ENST00000390654	ensembl	human	known	69_37n	silent	129	11.56	17	SNP	0.876	C
COL27A1	85301	genome.wustl.edu	37	9	117045991	117045991	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:117045991T>G	ENST00000356083.3	+	40	4273	c.3882T>G	c.(3880-3882)ggT>ggG	p.G1294G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1294	Collagen-like 11.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCTTGTAGGGTGCTCCGGGAC	0.642																																						dbGAP											0													91.0	87.0	89.0					9																	117045991		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3882T>G	9.37:g.117045991T>G			Q66K43|Q96JF7	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.G1294	ENST00000356083.3	37	c.3882	CCDS6802.1	9																																																																																			COL27A1	-	pfam_Collagen	ENSG00000196739		0.642	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL27A1	HGNC	protein_coding	OTTHUMT00000053763.1	116	0.00	0	T	NM_032888		117045991	117045991	+1	no_errors	ENST00000356083	ensembl	human	known	69_37n	silent	92	18.58	21	SNP	0.999	G
COL28A1	340267	genome.wustl.edu	37	7	7400063	7400063	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:7400063T>G	ENST00000399429.3	-	34	3303	c.3163A>C	c.(3163-3165)Acc>Ccc	p.T1055P		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1055					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGCCTGGGGGTGGTGGTGGCC	0.542																																						dbGAP											0													97.0	108.0	104.0					7																	7400063		2009	4170	6179	-	-	-	SO:0001583	missense	0			AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.3163A>C	7.37:g.7400063T>G	ENSP00000382356:p.Thr1055Pro		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m	p.T1055P	ENST00000399429.3	37	c.3163	CCDS43553.1	7	.	.	.	.	.	.	.	.	.	.	T	6.038	0.375377	0.11409	.	.	ENSG00000215018	ENST00000453441;ENST00000399429	T;D	0.89810	-0.2;-2.57	3.93	0.0477	0.14281	.	1.252830	0.05997	U	0.647039	D	0.83225	0.5208	L	0.36672	1.1	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.65467	-0.6161	10	0.27785	T	0.31	.	10.1123	0.42570	0.0:0.0:0.5926:0.4074	.	1055	Q2UY09	COSA1_HUMAN	P	10;1055	ENSP00000391380:T10P;ENSP00000382356:T1055P	ENSP00000382356:T1055P	T	-	1	0	COL28A1	7366588	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.278000	0.08490	0.009000	0.14813	-0.313000	0.08912	ACC	COL28A1	-	NULL	ENSG00000215018		0.542	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL28A1	HGNC	protein_coding	OTTHUMT00000315899.1	227	0.86	2	T	NM_001037763		7400063	7400063	-1	no_errors	ENST00000399429	ensembl	human	known	69_37n	missense	127	17.83	28	SNP	0.000	G
COL4A1	1282	genome.wustl.edu	37	13	110813606	110813606	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:110813606T>G	ENST00000375820.4	-	49	4694	c.4573A>C	c.(4573-4575)Acc>Ccc	p.T1525P	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1525	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGCTCAGGGGTGGACAGCCAG	0.483																																						dbGAP											0													137.0	115.0	122.0					13																	110813606		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.4573A>C	13.37:g.110813606T>G	ENSP00000364979:p.Thr1525Pro		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.T1525P	ENST00000375820.4	37	c.4573	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	T	11.38	1.622949	0.28889	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.95137	-3.62	4.56	4.56	0.56223	C-type lectin fold (1);	0.059266	0.64402	D	0.000002	D	0.98194	0.9403	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.99453	1.0941	10	0.87932	D	0	.	14.2173	0.65802	0.0:0.0:0.0:1.0	.	1525	P02462	CO4A1_HUMAN	P	1168;1525;1174	ENSP00000364979:T1525P	ENSP00000364973:T1168P	T	-	1	0	COL4A1	109611607	1.000000	0.71417	0.896000	0.35187	0.205000	0.24178	3.014000	0.49590	1.807000	0.52817	0.379000	0.24179	ACC	COL4A1	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	ENSG00000187498		0.483	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	170	0.00	0	T			110813606	110813606	-1	no_errors	ENST00000375820	ensembl	human	known	69_37n	missense	163	10.44	19	SNP	0.998	G
COL4A1	1282	genome.wustl.edu	37	13	110845184	110845184	+	Silent	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:110845184T>C	ENST00000375820.4	-	23	1579	c.1458A>G	c.(1456-1458)ggA>ggG	p.G486G	COL4A1_ENST00000543140.1_Silent_p.G486G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	486	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TACCTATTTCTCCCGGGGGTC	0.498																																						dbGAP											0													64.0	64.0	64.0					13																	110845184		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1458A>G	13.37:g.110845184T>C			A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G486	ENST00000375820.4	37	c.1458	CCDS9511.1	13																																																																																			COL4A1	-	pfam_Collagen	ENSG00000187498		0.498	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	152	0.00	0	T			110845184	110845184	-1	no_errors	ENST00000375820	ensembl	human	known	69_37n	silent	118	16.20	23	SNP	0.999	C
COL4A6	1288	genome.wustl.edu	37	X	107422038	107422038	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:107422038A>C	ENST00000372216.4	-	27	2494	c.2394T>G	c.(2392-2394)ggT>ggG	p.G798G	COL4A6_ENST00000334504.7_Silent_p.G797G|COL4A6_ENST00000538570.1_Silent_p.G797G|COL4A6_ENST00000545689.1_Silent_p.G797G|COL4A6_ENST00000394872.2_Silent_p.G798G	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	798	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TGCCCCGCTCACCTTTGGGGC	0.577									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	dbGAP											0													98.0	77.0	84.0					X																	107422038		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.2394T>G	X.37:g.107422038A>C			Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G798	ENST00000372216.4	37	c.2394	CCDS14541.1	X																																																																																			COL4A6	-	pfam_Collagen	ENSG00000197565		0.577	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	132	0.00	0	A			107422038	107422038	-1	no_errors	ENST00000372216	ensembl	human	known	69_37n	silent	92	16.96	19	SNP	0.995	C
COL4A5	1287	genome.wustl.edu	37	X	107823935	107823935	+	Silent	SNP	T	T	G	rs183837448		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:107823935T>G	ENST00000361603.2	+	15	1102	c.858T>G	c.(856-858)ggT>ggG	p.G286G	COL4A5_ENST00000328300.6_Silent_p.G286G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	286	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTGAGAAAGGTGAGAAGGGTG	0.378									Alport syndrome with Diffuse Leiomyomatosis																													dbGAP											0													144.0	144.0	144.0					X																	107823935		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.858T>G	X.37:g.107823935T>G			Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G286	ENST00000361603.2	37	c.858	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen	ENSG00000188153		0.378	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	502	0.79	4	T			107823935	107823935	+1	no_errors	ENST00000328300	ensembl	human	known	69_37n	silent	319	10.39	37	SNP	1.000	G
COL7A1	1294	genome.wustl.edu	37	3	48606850	48606850	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:48606850A>C	ENST00000328333.8	-	102	7751	c.7644T>G	c.(7642-7644)ggT>ggG	p.G2548G	COL7A1_ENST00000454817.1_Silent_p.G2516G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2548	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCCTTTGTCACCATCCAAGC	0.592																																						dbGAP											0													187.0	166.0	173.0					3																	48606850		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.7644T>G	3.37:g.48606850A>C			Q14054|Q16507	Silent	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.G2548	ENST00000328333.8	37	c.7644	CCDS2773.1	3																																																																																			COL7A1	-	pfam_Collagen	ENSG00000114270		0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	204	0.00	0	A	NM_000094		48606850	48606850	-1	no_errors	ENST00000328333	ensembl	human	known	69_37n	silent	209	12.55	30	SNP	1.000	C
COL7A1	1294	genome.wustl.edu	37	3	48627147	48627147	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:48627147T>G	ENST00000328333.8	-	16	2162	c.2055A>C	c.(2053-2055)ccA>ccC	p.P685P	COL7A1_ENST00000454817.1_Silent_p.P685P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	685	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGGCCCAGTGGGTCTAGTG	0.587																																						dbGAP											0													75.0	76.0	75.0					3																	48627147		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2055A>C	3.37:g.48627147T>G			Q14054|Q16507	Silent	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.P685	ENST00000328333.8	37	c.2055	CCDS2773.1	3																																																																																			COL7A1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000114270		0.587	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	112	0.00	0	T	NM_000094		48627147	48627147	-1	no_errors	ENST00000328333	ensembl	human	known	69_37n	silent	83	15.31	15	SNP	0.891	G
COL6A5	256076	genome.wustl.edu	37	3	130095497	130095497	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:130095497T>G	ENST00000432398.2	+	3	979	c.485T>G	c.(484-486)gTg>gGg	p.V162G	COL6A5_ENST00000265379.6_Missense_Mutation_p.V162G	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	162	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAAGACGGGGTGAAAATTATC	0.507																																						dbGAP											0													73.0	78.0	77.0					3																	130095497		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.485T>G	3.37:g.130095497T>G	ENSP00000390895:p.Val162Gly		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.V162G	ENST00000432398.2	37	c.485		3	.	.	.	.	.	.	.	.	.	.	T	10.12	1.263349	0.23051	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.86956	-2.19;-2.19	5.14	5.14	0.70334	.	.	.	.	.	D	0.94555	0.8246	M	0.91768	3.24	0.58432	D	0.999994	D	0.89917	1.0	D	0.85130	0.997	D	0.95603	0.8665	9	0.87932	D	0	.	14.2338	0.65911	0.0:0.0:0.0:1.0	.	162	A8TX70-2	.	G	162	ENSP00000390895:V162G;ENSP00000265379:V162G	ENSP00000265379:V162G	V	+	2	0	COL6A5	131578187	1.000000	0.71417	0.993000	0.49108	0.045000	0.14185	5.225000	0.65294	2.064000	0.61679	0.455000	0.32223	GTG	COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.507	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		154	0.64	1	T	NM_153264		130095497	130095497	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	84	18.45	19	SNP	1.000	G
COL9A1	1297	genome.wustl.edu	37	6	70944526	70944526	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:70944526T>G	ENST00000357250.6	-	34	2388	c.2230A>C	c.(2230-2232)Acc>Ccc	p.T744P	RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.T501P|COL9A1_ENST00000370499.4_Missense_Mutation_p.T501P	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	744	Collagen-like 8.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGCAGGCCGGTGGCACCCTGT	0.647																																						dbGAP											0													38.0	40.0	39.0					6																	70944526		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2230A>C	6.37:g.70944526T>G	ENSP00000349790:p.Thr744Pro		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.T744P	ENST00000357250.6	37	c.2230	CCDS4971.1	6	.	.	.	.	.	.	.	.	.	.	T	12.80	2.047950	0.36085	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	T;T;T	0.68331	-0.32;-0.32;-0.32	5.74	3.18	0.36537	.	0.153629	0.64402	D	0.000016	T	0.16257	0.0391	N	0.00811	-1.165	0.37289	D	0.908184	B;B;B	0.14012	0.009;0.006;0.001	B;B;B	0.15484	0.013;0.004;0.004	T	0.04090	-1.0978	10	0.19590	T	0.45	.	12.5408	0.56169	0.0:0.0:0.5158:0.4842	.	744;501;293	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	P	744;501;501	ENSP00000349790:T744P;ENSP00000315252:T501P;ENSP00000359530:T501P	ENSP00000315252:T501P	T	-	1	0	COL9A1	71001247	1.000000	0.71417	0.985000	0.45067	0.938000	0.57974	5.474000	0.66781	0.988000	0.38734	0.477000	0.44152	ACC	COL9A1	-	pfam_Collagen	ENSG00000112280		0.647	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	69	0.00	0	T			70944526	70944526	-1	no_errors	ENST00000357250	ensembl	human	known	69_37n	missense	34	20.45	9	SNP	0.979	G
COL9A3	1299	genome.wustl.edu	37	20	61472048	61472048	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:61472048A>G	ENST00000343916.3	+	32	2022	c.2019A>G	c.(2017-2019)ggA>ggG	p.G673G	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	673	Nonhelical region 1 (NC1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCGTGTTAGGAGGGGTCGGGG	0.612																																						dbGAP											0													24.0	25.0	25.0					20																	61472048		2198	4296	6494	-	-	-	SO:0001819	synonymous_variant	0			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.2019A>G	20.37:g.61472048A>G			Q13681|Q9H4G9|Q9UPE2	Silent	SNP	pfam_Collagen	p.G673	ENST00000343916.3	37	c.2019	CCDS13505.1	20																																																																																			COL9A3	-	NULL	ENSG00000092758		0.612	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	50	0.00	0	A	NM_001853		61472048	61472048	+1	no_errors	ENST00000343916	ensembl	human	known	69_37n	silent	26	16.13	5	SNP	0.072	G
CORO6	84940	genome.wustl.edu	37	17	27946110	27946110	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:27946110T>G	ENST00000445145.2	-	3	420	c.419A>C	c.(418-420)cAc>cCc	p.H140P	CORO6_ENST00000584969.1_Missense_Mutation_p.H140P|CORO6_ENST00000345068.5_Missense_Mutation_p.H140P|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000388767.3_Missense_Mutation_p.H140P|CORO6_ENST00000456796.3_5'Flank|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000580212.1_Missense_Mutation_p.H140P|RP11-68I3.2_ENST00000581474.1_RNA			Q6QEF8	CORO6_HUMAN	coronin 6	140					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						GGCAGTAGGGTGCCAGGAGAG	0.592																																						dbGAP											0													42.0	46.0	45.0					17																	27946110		2069	4246	6315	-	-	-	SO:0001583	missense	0			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.419A>C	17.37:g.27946110T>G	ENSP00000393624:p.His140Pro		B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H140P	ENST00000445145.2	37	c.419		17	.	.	.	.	.	.	.	.	.	.	T	15.06	2.721345	0.48728	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T	0.61510	0.1;0.1	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.81800	0.4899	M	0.92691	3.335	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86368	0.1721	10	0.87932	D	0	.	15.8779	0.79180	0.0:0.0:0.0:1.0	.	140	Q6QEF8-5	.	P	211;140;140	ENSP00000373419:H140P;ENSP00000393624:H140P	ENSP00000344562:H211P	H	-	2	0	CORO6	24970236	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.966000	0.87956	2.234000	0.73211	0.459000	0.35465	CAC	CORO6	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000167549		0.592	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	CORO6	HGNC	protein_coding	OTTHUMT00000447831.1	92	0.00	0	T	NM_032854		27946110	27946110	-1	no_errors	ENST00000345068	ensembl	human	known	69_37n	missense	56	21.13	15	SNP	1.000	G
CORO7	79585	genome.wustl.edu	37	16	4462374	4462374	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:4462374T>G	ENST00000251166.4	-	3	360	c.215A>C	c.(214-216)cAc>cCc	p.H72P	CORO7_ENST00000423908.2_Intron|CORO7_ENST00000577144.1_5'UTR|CORO7_ENST00000537233.2_Missense_Mutation_p.H72P|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.H72P|CORO7_ENST00000574025.1_Missense_Mutation_p.H72P|CORO7_ENST00000539968.1_5'UTR	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	72					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GCAGCCCAGGTGGGCCACGCG	0.587																																						dbGAP											0													169.0	141.0	151.0					16																	4462374		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.215A>C	16.37:g.4462374T>G	ENSP00000251166:p.His72Pro		B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	pfam_DUF1900,pfam_Protein_transpt,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H72P	ENST00000251166.4	37	c.215	CCDS10513.1	16	.	.	.	.	.	.	.	.	.	.	T	12.60	1.986162	0.35036	.	.	ENSG00000103426	ENST00000251166;ENST00000537233	T;T	0.67698	0.22;-0.28	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);	0.865493	0.09801	N	0.754074	T	0.51686	0.1689	N	0.11818	0.18	0.80722	D	1	P;B;P;P	0.47191	0.891;0.337;0.566;0.583	B;B;B;B	0.41088	0.347;0.085;0.269;0.338	T	0.48364	-0.9042	10	0.44086	T	0.13	-5.4569	12.4959	0.55927	0.0:0.0:0.0:1.0	.	72;72;72;53	P57737-2;B4DFD6;P57737;B4DKU9	.;.;CORO7_HUMAN;.	P	72	ENSP00000251166:H72P;ENSP00000440460:H72P	ENSP00000251166:H72P	H	-	2	0	CORO7	4402375	1.000000	0.71417	0.801000	0.32222	0.282000	0.26991	2.144000	0.42197	1.982000	0.57802	0.379000	0.24179	CAC	CORO7	-	pfam_WD40_repeat,smart_WD40_repeat	ENSG00000103426		0.587	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7	HGNC	protein_coding	OTTHUMT00000251628.2	162	0.60	1	T	NM_024535		4462374	4462374	-1	no_errors	ENST00000572467	ensembl	human	known	69_37n	missense	119	16.67	24	SNP	0.870	G
CPAMD8	27151	genome.wustl.edu	37	19	17025306	17025306	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:17025306A>C	ENST00000443236.1	-	29	3961	c.3930T>G	c.(3928-3930)ggT>ggG	p.G1310G		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1263						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGTGGATCCCACCCTGCAAGG	0.612																																						dbGAP											0													64.0	68.0	67.0					19																	17025306		2072	4218	6290	-	-	-	SO:0001819	synonymous_variant	0			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3930T>G	19.37:g.17025306A>C			Q8NC09|Q9ULD7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.V1321G	ENST00000443236.1	37	c.3962	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	A	0.203	-1.043111	0.01997	.	.	ENSG00000160111	ENST00000443236	.	.	.	2.93	-4.92	0.03075	.	.	.	.	.	T	0.45994	0.1370	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42816	-0.9429	4	.	.	.	.	4.7603	0.13104	0.4262:0.2884:0.2854:0.0	.	.	.	.	G	1321	.	.	V	-	2	0	CPAMD8	16886306	0.999000	0.42202	0.752000	0.31206	0.196000	0.23810	0.500000	0.22562	-0.951000	0.03654	-0.451000	0.05528	GTG	CPAMD8	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000160111		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	82	0.00	0	A	NM_015692		17025306	17025306	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000443236	ensembl	human	known	69_37n	missense	52	16.13	10	SNP	0.992	C
CPLX3	594855	genome.wustl.edu	37	15	75122506	75122506	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:75122506T>G	ENST00000395018.4	+	3	445	c.288T>G	c.(286-288)ggT>ggG	p.G96G	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	96					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)	p.G96G(1)		large_intestine(2)|lung(2)	4						AGATGGCAGGTGGAGACGTGG	0.612																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											60.0	58.0	59.0					15																	75122506		2197	4295	6492	-	-	-	SO:0001819	synonymous_variant	0			BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.288T>G	15.37:g.75122506T>G			D3DW66|Q8TEM6|Q9H818	Silent	SNP	pfam_Synaphin	p.G96	ENST00000395018.4	37	c.288	CCDS32294.1	15																																																																																			CPLX3	-	pfam_Synaphin	ENSG00000213578		0.612	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX3	HGNC	protein_coding	OTTHUMT00000286402.2	132	0.74	1	T	NM_001030005		75122506	75122506	+1	no_errors	ENST00000395018	ensembl	human	known	69_37n	silent	92	14.55	16	SNP	0.899	G
CPNE3	8895	genome.wustl.edu	37	8	87570602	87570602	+	Silent	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:87570602T>C	ENST00000521271.1	+	17	1740	c.1578T>C	c.(1576-1578)ccT>ccC	p.P526P	CPNE3_ENST00000198765.4_Silent_p.P526P	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	526					lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AACTCCTTCCTCCCAAGAACC	0.463																																						dbGAP											0													122.0	112.0	116.0					8																	87570602		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.1578T>C	8.37:g.87570602T>C			A8KA47|Q8IYA1	Silent	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.P526	ENST00000521271.1	37	c.1578	CCDS6243.1	8																																																																																			CPNE3	-	NULL	ENSG00000085719		0.463	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE3	HGNC	protein_coding	OTTHUMT00000374994.1	203	0.00	0	T			87570602	87570602	+1	no_errors	ENST00000198765	ensembl	human	known	69_37n	silent	181	20.18	46	SNP	0.995	C
CPS1	1373	genome.wustl.edu	37	2	211466997	211466997	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:211466997T>G	ENST00000233072.5	+	16	1975	c.1779T>G	c.(1777-1779)ggT>ggG	p.G593G	CPS1_ENST00000451903.2_Silent_p.G142G|CPS1_ENST00000430249.2_Silent_p.G599G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	593	ATP-grasp 1.		G -> R (in CPS1D). {ECO:0000269|PubMed:17310273}.		anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	ATGCACTGGGTGGGTTAGGCT	0.453																																						dbGAP											0													140.0	126.0	131.0					2																	211466997		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.1779T>G	2.37:g.211466997T>G			B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu	p.G599	ENST00000233072.5	37	c.1797	CCDS2393.1	2																																																																																			CPS1	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,prints_CbamoylP_synth_lsu_CPSase_dom,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000021826		0.453	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPS1	HGNC	protein_coding	OTTHUMT00000256569.5	187	0.53	1	T			211466997	211466997	+1	no_errors	ENST00000430249	ensembl	human	known	69_37n	silent	116	15.94	22	SNP	0.873	G
CPSF1	29894	genome.wustl.edu	37	8	145619167	145619167	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:145619167A>C	ENST00000349769.3	-	35	4040	c.3946T>G	c.(3946-3948)Tgc>Ggc	p.C1316G	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'UTR	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1316					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)			GCCCCCCGGCACGGGGTCCTC	0.617																																					NSCLC(133;1088 1848 27708 34777 35269)	dbGAP											0													56.0	55.0	55.0					8																	145619167		2201	4300	6501	-	-	-	SO:0001583	missense	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.3946T>G	8.37:g.145619167A>C	ENSP00000339353:p.Cys1316Gly		Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.C1316G	ENST00000349769.3	37	c.3946	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807943	0.31961	.	.	ENSG00000071894	ENST00000349769	T	0.41400	1.0	5.36	5.36	0.76844	Cleavage/polyadenylation specificity factor, A subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.45581	1.43	0.80722	D	1	B	0.16166	0.016	B	0.20577	0.03	T	0.14117	-1.0484	10	0.22109	T	0.4	-34.8927	13.2903	0.60267	1.0:0.0:0.0:0.0	.	1316	Q10570	CPSF1_HUMAN	G	1316	ENSP00000339353:C1316G	ENSP00000339353:C1316G	C	-	1	0	CPSF1	145589975	1.000000	0.71417	0.914000	0.36105	0.492000	0.33523	4.594000	0.61041	2.033000	0.60031	0.454000	0.30748	TGC	CPSF1	-	pfam_Cleavage/polyA-sp_fac_asu_C	ENSG00000071894		0.617	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	123	0.00	0	A	NM_013291		145619167	145619167	-1	no_errors	ENST00000349769	ensembl	human	known	69_37n	missense	159	12.37	23	SNP	0.996	C
CPT1C	126129	genome.wustl.edu	37	19	50216020	50216020	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:50216020A>C	ENST00000392518.4	+	18	2419	c.2047A>C	c.(2047-2049)Acc>Ccc	p.T683P	CPT1C_ENST00000405931.2_Missense_Mutation_p.T672P|CPT1C_ENST00000598293.1_Missense_Mutation_p.T683P|CPT1C_ENST00000354199.5_Intron|CPT1C_ENST00000323446.5_Missense_Mutation_p.T683P	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	683					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCAGCTGTCCACCAGCCAGAT	0.572																																						dbGAP											0													80.0	60.0	66.0					19																	50216020		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.2047A>C	19.37:g.50216020A>C	ENSP00000376303:p.Thr683Pro		A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.T683P	ENST00000392518.4	37	c.2047	CCDS12779.1	19	.	.	.	.	.	.	.	.	.	.	A	27.5	4.838349	0.91117	.	.	ENSG00000169169	ENST00000392518;ENST00000405931;ENST00000323446	D;D;D	0.87256	-2.23;-2.23;-2.23	4.59	4.59	0.56863	.	0.000000	0.46442	D	0.000284	D	0.94558	0.8247	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95518	0.8592	10	0.72032	D	0.01	-32.6168	13.4179	0.60979	1.0:0.0:0.0:0.0	.	672;683	Q8TCG5-2;Q8TCG5	.;CPT1C_HUMAN	P	683;672;683	ENSP00000376303:T683P;ENSP00000384465:T672P;ENSP00000319343:T683P	ENSP00000319343:T683P	T	+	1	0	CPT1C	54907832	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.416000	0.90244	2.070000	0.61991	0.529000	0.55759	ACC	CPT1C	-	pfam_Carn_acyl_trans	ENSG00000169169		0.572	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1C	HGNC	protein_coding	OTTHUMT00000465873.1	47	0.00	0	A	NM_152359		50216020	50216020	+1	no_errors	ENST00000323446	ensembl	human	known	69_37n	missense	58	21.62	16	SNP	1.000	C
CRAMP1L	57585	genome.wustl.edu	37	16	1675984	1675984	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:1675984T>G	ENST00000397412.3	+	3	456	c.357T>G	c.(355-357)ggT>ggG	p.G119G	CRAMP1L_ENST00000436138.3_Intron|CRAMP1L_ENST00000293925.5_Silent_p.G119G|LA16c-395F10.1_ENST00000415176.1_RNA			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	119						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GAGCTGAAGGTGGTGGATCAT	0.632																																						dbGAP											0													53.0	51.0	51.0					16																	1675984		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.357T>G	16.37:g.1675984T>G			A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Silent	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.G119	ENST00000397412.3	37	c.357	CCDS10440.2	16																																																																																			CRAMP1L	-	NULL	ENSG00000007545		0.632	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAMP1L	HGNC	protein_coding	OTTHUMT00000157297.4	135	0.72	1	T			1675984	1675984	+1	no_errors	ENST00000293925	ensembl	human	known	69_37n	silent	125	16.11	24	SNP	0.090	G
CREB5	9586	genome.wustl.edu	37	7	28844033	28844033	+	Missense_Mutation	SNP	A	A	C	rs559296613	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:28844033A>C	ENST00000357727.2	+	8	1310	c.920A>C	c.(919-921)cAc>cCc	p.H307P	CREB5_ENST00000396299.2_Missense_Mutation_p.H274P|CREB5_ENST00000396298.2_Missense_Mutation_p.H168P|CREB5_ENST00000396300.2_Missense_Mutation_p.H300P|CREB5_ENST00000409603.1_Missense_Mutation_p.H274P	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	307					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						caaccccatcaccagcagaac	0.607																																						dbGAP											0													583.0	332.0	417.0					7																	28844033		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.920A>C	7.37:g.28844033A>C	ENSP00000350359:p.His307Pro		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.H307P	ENST00000357727.2	37	c.920	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	A	12.39	1.923822	0.34002	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.65178	-0.12;-0.12;-0.12;-0.12;-0.14	5.51	5.51	0.81932	.	0.253160	0.45606	D	0.000360	T	0.53642	0.1809	L	0.40543	1.245	0.51767	D	0.999932	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48210	-0.9055	10	0.26408	T	0.33	-16.5257	15.3425	0.74309	1.0:0.0:0.0:0.0	.	168;307	B4DU13;Q02930	.;CREB5_HUMAN	P	274;307;300;274;133;168	ENSP00000379593:H274P;ENSP00000350359:H307P;ENSP00000379594:H300P;ENSP00000387197:H274P;ENSP00000379592:H168P	ENSP00000350359:H307P	H	+	2	0	CREB5	28810558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.897000	0.92532	2.119000	0.64992	0.472000	0.43445	CAC	CREB5	-	pirsf_TF_cAMP-dep	ENSG00000146592		0.607	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	523	0.19	1	A	NM_004904		28844033	28844033	+1	no_errors	ENST00000357727	ensembl	human	known	69_37n	missense	254	12.07	35	SNP	1.000	C
CREB5	9586	genome.wustl.edu	37	7	28844069	28844069	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:28844069A>C	ENST00000357727.2	+	8	1346	c.956A>C	c.(955-957)cAc>cCc	p.H319P	CREB5_ENST00000396299.2_Missense_Mutation_p.H286P|CREB5_ENST00000396298.2_Missense_Mutation_p.H180P|CREB5_ENST00000396300.2_Missense_Mutation_p.H312P|CREB5_ENST00000409603.1_Missense_Mutation_p.H286P	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	319					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						tcccattcccaccttcatgca	0.587																																						dbGAP											0													527.0	329.0	396.0					7																	28844069		2203	4300	6503	-	-	-	SO:0001583	missense	0			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.956A>C	7.37:g.28844069A>C	ENSP00000350359:p.His319Pro		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.H319P	ENST00000357727.2	37	c.956	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	A	13.79	2.343525	0.41498	.	.	ENSG00000146592	ENST00000396299;ENST00000357727;ENST00000396300;ENST00000409603;ENST00000426500;ENST00000396298	T;T;T;T;T	0.64085	-0.06;-0.06;-0.05;-0.06;-0.08	5.51	5.51	0.81932	.	0.186041	0.56097	D	0.000024	T	0.50292	0.1607	N	0.22421	0.69	0.48040	D	0.999573	P;D	0.56968	0.932;0.978	B;B	0.43623	0.425;0.396	T	0.49762	-0.8905	10	0.28530	T	0.3	-16.7902	15.3425	0.74309	1.0:0.0:0.0:0.0	.	180;319	B4DU13;Q02930	.;CREB5_HUMAN	P	286;319;312;286;145;180	ENSP00000379593:H286P;ENSP00000350359:H319P;ENSP00000379594:H312P;ENSP00000387197:H286P;ENSP00000379592:H180P	ENSP00000350359:H319P	H	+	2	0	CREB5	28810594	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.099000	0.76981	2.119000	0.64992	0.472000	0.43445	CAC	CREB5	-	pirsf_TF_cAMP-dep	ENSG00000146592		0.587	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4	521	0.19	1	A	NM_004904		28844069	28844069	+1	no_errors	ENST00000357727	ensembl	human	known	69_37n	missense	191	22.89	57	SNP	1.000	C
CRMP1	1400	genome.wustl.edu	37	4	5827261	5827261	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:5827261T>G	ENST00000397890.2	-	13	1801	c.1587A>C	c.(1585-1587)ccA>ccC	p.P529P	CRMP1_ENST00000324989.7_Silent_p.P643P|EVC_ENST00000382674.2_Intron|CRMP1_ENST00000512574.1_Silent_p.P527P|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	529					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		TTCTGATGGGTGGGGGCTGGT	0.552																																						dbGAP											0													173.0	169.0	171.0					4																	5827261		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1587A>C	4.37:g.5827261T>G			A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.P643	ENST00000397890.2	37	c.1929	CCDS43207.1	4																																																																																			CRMP1	-	NULL	ENSG00000072832		0.552	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	281	0.71	2	T	NM_001313		5827261	5827261	-1	no_errors	ENST00000324989	ensembl	human	known	69_37n	silent	363	12.29	51	SNP	0.511	G
CSAD	51380	genome.wustl.edu	37	12	53567205	53567205	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:53567205A>C	ENST00000444623.1	-	4	317	c.50T>G	c.(49-51)gTg>gGg	p.V17G	CSAD_ENST00000542115.1_Missense_Mutation_p.V17G|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000267085.4_Missense_Mutation_p.V44G|CSAD_ENST00000379843.3_Missense_Mutation_p.V17G|CSAD_ENST00000453446.2_Missense_Mutation_p.V17G|CSAD_ENST00000379846.1_Missense_Mutation_p.V17G	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	17					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	CAAGGCTTCCACAGCCACTGG	0.567																																					Ovarian(109;252 1546 16882 28524 44645)	dbGAP											0													82.0	75.0	77.0					12																	53567205		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.50T>G	12.37:g.53567205A>C	ENSP00000415485:p.Val17Gly		A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.V44G	ENST00000444623.1	37	c.131	CCDS58235.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.049|2.049	-0.418098|-0.418098	0.04766|0.04766	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000379850|ENST00000308926;ENST00000379843;ENST00000267085;ENST00000544139;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446;ENST00000548698;ENST00000542115;ENST00000437073;ENST00000424990	.|T;T;T;T;T;T;T;T;T	.|0.27104	.|2.32;2.83;2.32;2.84;2.84;1.69;2.28;2.27;2.31	5.08|5.08	-1.03|-1.03	0.10102|0.10102	.|Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.663479	.|0.13616	.|N	.|0.374780	T|T	0.09069|0.09069	0.0224|0.0224	N|N	0.04508|0.04508	-0.205|-0.205	0.25510|0.25510	N|N	0.98746|0.98746	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.0;0.0;0.0;0.001	T|T	0.39522|0.39522	-0.9610|-0.9610	5|10	.|0.11182	.|T	.|0.66	-0.4815|-0.4815	7.9572|7.9572	0.30049|0.30049	0.1579:0.2185:0.6235:0.0|0.1579:0.2185:0.6235:0.0	.|.	.|17;44;17;17	.|B4DL84;Q9Y600-3;Q9Y600;Q9Y600-2	.|.;.;CSAD_HUMAN;.	W|G	42|106;17;44;17;17;17;17;17;17;17;17;17	.|ENSP00000369172:V17G;ENSP00000267085:V44G;ENSP00000369175:V17G;ENSP00000415485:V17G;ENSP00000410648:V17G;ENSP00000449373:V17G;ENSP00000439419:V17G;ENSP00000415314:V17G;ENSP00000401078:V17G	.|ENSP00000267085:V44G	C|V	-|-	3|2	2|0	CSAD|CSAD	51853472|51853472	0.890000|0.890000	0.30428|0.30428	0.226000|0.226000	0.23910|0.23910	0.102000|0.102000	0.19082|0.19082	0.919000|0.919000	0.28692|0.28692	0.017000|0.017000	0.15025|0.15025	-0.912000|-0.912000	0.02778|0.02778	TGT|GTG	CSAD	-	superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000139631		0.567	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	CSAD	HGNC	protein_coding	OTTHUMT00000343697.1	106	0.93	1	A	NM_015989		53567205	53567205	-1	no_errors	ENST00000267085	ensembl	human	known	69_37n	missense	73	14.12	12	SNP	0.172	C
CRY1	1407	genome.wustl.edu	37	12	107391781	107391781	+	Missense_Mutation	SNP	A	A	C	rs201044685		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:107391781A>C	ENST00000008527.5	-	8	2068	c.1201T>G	c.(1201-1203)Tct>Gct	p.S401A		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	401	Required for inhibition of CLOCK- ARNTL/BMAL1-mediated transcription. {ECO:0000250}.				blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GAACTACAAGACAGCCACATC	0.393																																						dbGAP											0													124.0	107.0	113.0					12																	107391781		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1201T>G	12.37:g.107391781A>C	ENSP00000008527:p.Ser401Ala			Missense_Mutation	SNP	pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N	p.S401A	ENST00000008527.5	37	c.1201	CCDS9112.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.2|26.2	4.717969|4.717969	0.89205|0.89205	.|.	.|.	ENSG00000008405|ENSG00000008405	ENST00000319645|ENST00000008527	.|.	.|.	.|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	.|0.050291	.|0.85682	.|D	.|0.000000	T|T	0.63498|0.63498	0.2516|0.2516	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D	.|0.54964	.|0.969	.|D	.|0.68353	.|0.957	T|T	0.60105|0.60105	-0.7328|-0.7328	6|9	0.87932|0.25106	D|T	0|0.35	-10.8822|-10.8822	16.0675|16.0675	0.80893|0.80893	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|401	.|Q16526	.|CRY1_HUMAN	W|A	8|401	.|.	ENSP00000323551:C8W|ENSP00000008527:S401A	C|S	-|-	3|1	2|0	CRY1|CRY1	105915911|105915911	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.315000|9.315000	0.96313|0.96313	2.202000|2.202000	0.70862|0.70862	0.482000|0.482000	0.46254|0.46254	TGT|TCT	CRY1	-	pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C	ENSG00000008405		0.393	CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRY1	HGNC	protein_coding	OTTHUMT00000406827.1	141	0.00	0	A	NM_004075		107391781	107391781	-1	no_errors	ENST00000008527	ensembl	human	known	69_37n	missense	111	14.62	19	SNP	1.000	C
CSAG1	158511	genome.wustl.edu	37	X	151908826	151908826	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:151908826T>G	ENST00000370287.3	+	4	393	c.65T>G	c.(64-66)gTg>gGg	p.V22G	CSAG1_ENST00000452779.2_Missense_Mutation_p.V22G|CSAG1_ENST00000370291.2_Missense_Mutation_p.V22G	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	22										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGACCAGGTGGACTGGAGT	0.512																																						dbGAP											0													203.0	191.0	195.0					X																	151908826		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"""cancer/testis antigen family 24, member 1"""					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.65T>G	X.37:g.151908826T>G	ENSP00000359310:p.Val22Gly		A6NE22	Missense_Mutation	SNP	NULL	p.V22G	ENST00000370287.3	37	c.65	CCDS14711.1	X	.	.	.	.	.	.	.	.	.	.	T	2.131	-0.399029	0.04865	.	.	ENSG00000198930	ENST00000370287;ENST00000452779;ENST00000370291	T;T;T	0.58652	0.97;0.97;0.32	0.837	-1.67	0.08238	.	.	.	.	.	T	0.32556	0.0833	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.12682	-1.0538	6	.	.	.	.	.	.	.	.	22	Q6PB30	CSAG1_HUMAN	G	22	ENSP00000359310:V22G;ENSP00000396520:V22G;ENSP00000359314:V22G	.	V	+	2	0	CSAG1	151659482	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	-1.268000	0.02836	-1.277000	0.02411	-1.405000	0.01134	GTG	CSAG1	-	NULL	ENSG00000198930		0.512	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSAG1	HGNC	protein_coding	OTTHUMT00000058760.2	307	0.95	3	T	NM_153479		151908826	151908826	+1	no_errors	ENST00000370287	ensembl	human	known	69_37n	missense	321	11.92	44	SNP	0.001	G
CSE1L	1434	genome.wustl.edu	37	20	47711454	47711454	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:47711454A>C	ENST00000262982.2	+	24	2903	c.2780A>C	c.(2779-2781)cAc>cCc	p.H927P	CSE1L_ENST00000469700.1_3'UTR|CSE1L_ENST00000542325.1_Missense_Mutation_p.H710P|CSE1L_ENST00000396192.3_Missense_Mutation_p.H871P	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	927					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CCCAAAATTCACCTGGCACAG	0.453																																						dbGAP											0													93.0	88.0	90.0					20																	47711454		2203	4300	6503	-	-	-	SO:0001583	missense	0			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.2780A>C	20.37:g.47711454A>C	ENSP00000262982:p.His927Pro		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Exportin/Importin_Cse1-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.H927P	ENST00000262982.2	37	c.2780	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	A	18.92	3.726073	0.69074	.	.	ENSG00000124207	ENST00000417408;ENST00000262982;ENST00000542325;ENST00000396192	T;T;T	0.46451	0.87;0.87;0.87	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);CAS/CSE, C-terminal (1);	0.049856	0.85682	D	0.000000	T	0.43299	0.1241	L	0.42245	1.32	0.53005	D	0.99996	P;P;B;P;P	0.46656	0.534;0.882;0.216;0.648;0.681	B;P;P;P;B	0.47346	0.231;0.544;0.489;0.477;0.42	T	0.40720	-0.9548	10	0.66056	D	0.02	-16.392	11.8437	0.52371	0.8695:0.0:0.0:0.1305	.	616;710;871;871;927	F5GX54;B4DUC5;A3RLL6;F8W904;P55060	.;.;.;.;XPO2_HUMAN	P	525;927;710;871	ENSP00000262982:H927P;ENSP00000446477:H710P;ENSP00000379495:H871P	ENSP00000262982:H927P	H	+	2	0	CSE1L	47144861	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	5.181000	0.65054	2.371000	0.80710	0.533000	0.62120	CAC	CSE1L	-	pfam_CAS_CSE1_C,superfamily_ARM-type_fold	ENSG00000124207		0.453	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2	109	0.00	0	A	NM_001316		47711454	47711454	+1	no_errors	ENST00000262982	ensembl	human	known	69_37n	missense	92	20.00	23	SNP	1.000	C
CSF1R	1436	genome.wustl.edu	37	5	149433883	149433883	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:149433883A>C	ENST00000286301.3	-	21	3055		c.e21+1			NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor						cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CACCCCACTCACCCGCTCTCT	0.627																																						dbGAP											0													68.0	53.0	58.0					5																	149433883		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2763+1T>G	5.37:g.149433883A>C			B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Splice_Site	SNP	-	e20+2	ENST00000286301.3	37	c.2763+2	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	A	9.765	1.171222	0.21621	.	.	ENSG00000182578	ENST00000286301	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0362	0.64646	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSF1R	149414076	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	5.462000	0.66707	2.057000	0.61298	0.460000	0.39030	.	CSF1R	-	-	ENSG00000182578		0.627	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	98	1.00	1	A	NM_005211	Intron	149433883	149433883	-1	no_errors	ENST00000286301	ensembl	human	known	69_37n	splice_site	40	19.61	10	SNP	1.000	C
CSMD2	114784	genome.wustl.edu	37	1	33999409	33999409	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:33999409T>G	ENST00000373381.4	-	63	10154	c.9978A>C	c.(9976-9978)ccA>ccC	p.P3326P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACAGTCAGGTGGGGTTCCAC	0.547																																						dbGAP											0													128.0	107.0	114.0					1																	33999409		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9978A>C	1.37:g.33999409T>G			B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.P3326	ENST00000373381.4	37	c.9978		1																																																																																			CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.547	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		181	0.55	1	T	NM_052896		33999409	33999409	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	silent	132	13.73	21	SNP	0.909	G
CSMD2	114784	genome.wustl.edu	37	1	34192158	34192158	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:34192158T>G	ENST00000373381.4	-	16	2673	c.2497A>C	c.(2497-2499)Acc>Ccc	p.T833P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	793	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTGTCGAAGGTGATTTTGATG	0.602																																						dbGAP											0													52.0	56.0	55.0					1																	34192158		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.2497A>C	1.37:g.34192158T>G	ENSP00000362479:p.Thr833Pro		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	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.T833P	ENST00000373381.4	37	c.2497		1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.610096	0.87258	.	.	ENSG00000121904	ENST00000373381	T	0.19394	2.15	5.77	5.77	0.91146	CUB (5);	0.056259	0.64402	D	0.000001	T	0.51873	0.1700	M	0.91717	3.235	0.80722	D	1	D;D	0.63880	0.993;0.993	P;P	0.62560	0.904;0.904	T	0.59590	-0.7426	10	0.38643	T	0.18	.	15.2752	0.73737	0.0:0.0:0.0:1.0	.	793;833	Q7Z408;E7EUA6	CSMD2_HUMAN;.	P	833	ENSP00000362479:T833P	ENSP00000241312:T793P	T	-	1	0	CSMD2	33964745	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.171000	0.71926	2.190000	0.69967	0.533000	0.62120	ACC	CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000121904		0.602	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		103	0.94	1	T	NM_052896		34192158	34192158	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	missense	39	18.00	9	SNP	1.000	G
CSRP2BP	57325	genome.wustl.edu	37	20	18163823	18163823	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:18163823A>C	ENST00000435364.3	+	8	2206	c.1865A>C	c.(1864-1866)cAc>cCc	p.H622P	CSRP2BP_ENST00000489634.2_Missense_Mutation_p.H494P|CSRP2BP_ENST00000377681.3_Missense_Mutation_p.H621P	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	622					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATTCGTTCCCACCTGCACAGG	0.502																																						dbGAP											0													133.0	126.0	129.0					20																	18163823		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.1865A>C	20.37:g.18163823A>C	ENSP00000392318:p.His622Pro		A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.H622P	ENST00000435364.3	37	c.1865	CCDS13133.1	20	.	.	.	.	.	.	.	.	.	.	A	16.59	3.164919	0.57476	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364;ENST00000489634	T;T;T;T	0.15139	2.45;2.45;2.45;2.45	6.04	6.04	0.98038	.	0.240106	0.44285	D	0.000469	T	0.13329	0.0323	N	0.22421	0.69	0.42015	D	0.990956	B;B	0.29270	0.24;0.155	B;B	0.29862	0.108;0.081	T	0.07065	-1.0792	10	0.59425	D	0.04	-29.7236	11.641	0.51233	0.8675:0.0:0.0:0.1325	.	494;622	Q9H8E8-2;Q9H8E8	.;CSR2B_HUMAN	P	622;621;622;494	ENSP00000278816:H622P;ENSP00000366909:H621P;ENSP00000392318:H622P;ENSP00000425909:H494P	ENSP00000278816:H622P	H	+	2	0	CSRP2BP	18111823	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.759000	0.62227	2.317000	0.78254	0.460000	0.39030	CAC	CSRP2BP	-	NULL	ENSG00000149474		0.502	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	HGNC	protein_coding	OTTHUMT00000078152.5	150	0.00	0	A	NM_020536		18163823	18163823	+1	no_errors	ENST00000278816	ensembl	human	known	69_37n	missense	131	15.48	24	SNP	1.000	C
CST11	140880	genome.wustl.edu	37	20	23433219	23433219	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:23433219A>C	ENST00000377009.3	-	1	262		c.e1+1		CST11_ENST00000377007.3_Splice_Site	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11						defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TCATACACTCACCTGCCTCTG	0.527																																						dbGAP											0													114.0	103.0	107.0					20																	23433219		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.228+1T>G	20.37:g.23433219A>C			Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Splice_Site	SNP	-	e1+2	ENST00000377009.3	37	c.228+2	CCDS13155.1	20	.	.	.	.	.	.	.	.	.	.	A	10.16	1.274448	0.23307	.	.	ENSG00000125831	ENST00000377009;ENST00000377007	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3551	0.38161	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CST11	23381219	0.516000	0.26218	0.277000	0.24703	0.005000	0.04900	3.139000	0.50577	1.978000	0.57642	0.528000	0.53228	.	CST11	-	-	ENSG00000125831		0.527	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST11	HGNC	protein_coding	OTTHUMT00000078314.1	99	0.00	0	A	NM_130794	Intron	23433219	23433219	-1	no_errors	ENST00000377009	ensembl	human	known	69_37n	splice_site	52	21.21	14	SNP	0.312	C
CTBP2	1488	genome.wustl.edu	37	10	126714661	126714661	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:126714661T>G	ENST00000337195.5	-	3	458				CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000309035.6_Silent_p.A556A|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000531469.1_Intron	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2						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)		TTGGTTCTGGTGCAAGCATGG	0.642																																						dbGAP											0													98.0	99.0	98.0					10																	126714661		2203	4300	6503	-	-	-	SO:0001627	intron_variant	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.58+12904A>C	10.37:g.126714661T>G			A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.A556	ENST00000337195.5	37	c.1668	CCDS7643.1	10																																																																																			CTBP2	-	NULL	ENSG00000175029		0.642	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	40	0.00	0	T	NM_001083914		126714661	126714661	-1	no_errors	ENST00000309035	ensembl	human	known	69_37n	silent	30	18.92	7	SNP	0.023	G
CTSA	5476	genome.wustl.edu	37	20	44521475	44521475	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:44521475A>C	ENST00000372459.2	+	5	749	c.556A>C	c.(556-558)Acc>Ccc	p.T186P	CTSA_ENST00000354880.5_Missense_Mutation_p.T187P|CTSA_ENST00000191018.5_Missense_Mutation_p.T186P|RP3-337O18.9_ENST00000607703.1_RNA|NEURL2_ENST00000372518.4_5'Flank|CTSA_ENST00000372484.3_Missense_Mutation_p.T204P			P10619	PPGB_HUMAN	cathepsin A	186					glycosphingolipid metabolic process (GO:0006687)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|enzyme activator activity (GO:0008047)|serine-type carboxypeptidase activity (GO:0004185)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CTACATCCCCACCCTGGCCGT	0.542																																						dbGAP											0													57.0	56.0	57.0					20																	44521475		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22960	CCDS13385.2, CCDS46609.1, CCDS54467.1	20q13.12	2012-02-10	2006-12-05	2006-12-05	ENSG00000064601	ENSG00000064601	3.4.16.5	"""Cathepsins"""	9251	protein-coding gene	gene with protein product	"""carboxypeptidase C"", ""lysosomal protective protein"", ""carboxypeptidase-L"", ""carboxypeptidase Y-like kininase"", ""deamidase"", ""lysosomal carboxypeptidase A"", ""urinary kininase"""	613111	"""protective protein for beta-galactosidase (galactosialidosis)"""	GSL, PPGB		2071143	Standard	NM_000308		Approved		uc002xqh.3	P10619	OTTHUMG00000033078	ENST00000372459.2:c.556A>C	20.37:g.44521475A>C	ENSP00000361537:p.Thr186Pro		B2R798|Q561W6|Q5JZH1|Q96KJ2|Q9BR08|Q9BW68	Missense_Mutation	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.T204P	ENST00000372459.2	37	c.610	CCDS46609.1	20	.	.	.	.	.	.	.	.	.	.	A	21.1	4.090230	0.76756	.	.	ENSG00000064601	ENST00000354880;ENST00000372484;ENST00000191018;ENST00000419493;ENST00000372459	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	5.15	3.98	0.46160	.	0.097268	0.64402	D	0.000001	D	0.95452	0.8523	M	0.85462	2.755	0.80722	D	1	D;D;D	0.63880	0.993;0.983;0.986	D;D;D	0.75484	0.986;0.986;0.977	D	0.94984	0.8128	10	0.54805	T	0.06	-22.0287	9.1862	0.37172	0.7188:0.0:0.0:0.2812	.	186;186;203	B4E324;P10619;Q59EV6	.;PPGB_HUMAN;.	P	187;204;186;169;186	ENSP00000346952:T187P;ENSP00000361562:T204P;ENSP00000191018:T186P;ENSP00000408533:T169P;ENSP00000361537:T186P	ENSP00000191018:T186P	T	+	1	0	CTSA	43954882	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.110000	0.64622	1.943000	0.56356	0.496000	0.49642	ACC	CTSA	-	pfam_Peptidase_S10	ENSG00000064601		0.542	CTSA-012	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	CTSA	HGNC	protein_coding	OTTHUMT00000471297.2	106	0.91	1	A	NM_000308		44521475	44521475	+1	no_errors	ENST00000372484	ensembl	human	known	69_37n	missense	73	24.24	24	SNP	1.000	C
CTTNBP2NL	55917	genome.wustl.edu	37	1	112999854	112999854	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:112999854A>C	ENST00000271277.6	+	6	1965	c.1740A>C	c.(1738-1740)ccA>ccC	p.P580P	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	580					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAACCCTCCACCCATCCCAC	0.567																																						dbGAP											0													117.0	117.0	117.0					1																	112999854		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1740A>C	1.37:g.112999854A>C			B3KMS5|Q96B40	Silent	SNP	pfam_Cortactin-binding_p2_N	p.P580	ENST00000271277.6	37	c.1740	CCDS845.1	1																																																																																			CTTNBP2NL	-	NULL	ENSG00000143079		0.567	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1	205	0.96	2	A	NM_018704		112999854	112999854	+1	no_errors	ENST00000271277	ensembl	human	known	69_37n	silent	117	17.02	24	SNP	0.995	C
CUEDC1	404093	genome.wustl.edu	37	17	55943866	55943866	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:55943866A>C	ENST00000577830.1	-	10	1546	c.1133T>G	c.(1132-1134)gTg>gGg	p.V378G	CUEDC1_ENST00000578357.1_5'UTR|CUEDC1_ENST00000407144.2_Missense_Mutation_p.V378G|CUEDC1_ENST00000360238.2_Missense_Mutation_p.V378G|CUEDC1_ENST00000577840.1_Missense_Mutation_p.V241G	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	378										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GCCTTCCTCCACCTTGGGTGC	0.632																																						dbGAP											0													111.0	86.0	94.0					17																	55943866		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.1133T>G	17.37:g.55943866A>C	ENSP00000462717:p.Val378Gly		D3DTZ2|Q9NWD0	Missense_Mutation	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.V378G	ENST00000577830.1	37	c.1133	CCDS11599.1	17	.	.	.	.	.	.	.	.	.	.	A	8.570	0.879796	0.17467	.	.	ENSG00000180891	ENST00000407144;ENST00000360238	T;T	0.24538	1.85;1.85	4.95	1.22	0.21188	.	0.269791	0.34700	N	0.003746	T	0.15998	0.0385	L	0.36672	1.1	0.46564	D	0.999105	B	0.20887	0.049	B	0.22386	0.039	T	0.07849	-1.0751	10	0.45353	T	0.12	-8.9472	3.1899	0.06613	0.513:0.0:0.216:0.271	.	378	Q9NWM3	CUED1_HUMAN	G	378	ENSP00000384712:V378G;ENSP00000353373:V378G	ENSP00000353373:V378G	V	-	2	0	CUEDC1	53298865	0.995000	0.38212	0.960000	0.40013	0.952000	0.60782	0.662000	0.25038	0.243000	0.21327	0.459000	0.35465	GTG	CUEDC1	-	NULL	ENSG00000180891		0.632	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUEDC1	HGNC	protein_coding	OTTHUMT00000443305.1	122	0.80	1	A	NM_017949		55943866	55943866	-1	no_errors	ENST00000360238	ensembl	human	known	69_37n	missense	66	23.86	21	SNP	0.970	C
CXorf36	79742	genome.wustl.edu	37	X	45051237	45051237	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:45051237T>G	ENST00000398000.2	-	2	331	c.257A>C	c.(256-258)cAc>cCc	p.H86P	CXorf36_ENST00000477281.1_5'Flank|RP11-342D14.1_ENST00000438181.1_RNA|RP11-342D14.1_ENST00000450527.1_RNA|CXorf36_ENST00000377934.4_Missense_Mutation_p.H86P	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	86						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						CAGTCCAAGGTGGGAAGCCAG	0.517																																						dbGAP											0													59.0	59.0	59.0					X																	45051237		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.257A>C	X.37:g.45051237T>G	ENSP00000381086:p.His86Pro		A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	NULL	p.H86P	ENST00000398000.2	37	c.257	CCDS48096.1	X	.	.	.	.	.	.	.	.	.	.	T	7.945	0.743649	0.15642	.	.	ENSG00000147113	ENST00000398000;ENST00000377934	T;T	0.35789	1.29;1.38	5.31	-0.353	0.12594	.	0.283865	0.32430	N	0.006110	T	0.24431	0.0592	L	0.42245	1.32	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.12630	-1.0540	10	0.46703	T	0.11	.	5.4395	0.16500	0.0:0.1548:0.3024:0.5427	.	86;86	Q9H7Y0-2;Q9H7Y0	.;CX036_HUMAN	P	86	ENSP00000381086:H86P;ENSP00000367168:H86P	ENSP00000367168:H86P	H	-	2	0	CXorf36	44936181	0.969000	0.33509	0.000000	0.03702	0.431000	0.31685	0.465000	0.22004	-0.450000	0.07107	0.417000	0.27973	CAC	CXorf36	-	NULL	ENSG00000147113		0.517	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf36	HGNC	protein_coding	OTTHUMT00000056333.2	204	0.49	1	T	NM_024689		45051237	45051237	-1	no_errors	ENST00000398000	ensembl	human	known	69_37n	missense	169	10.94	21	SNP	0.061	G
CYB5R2	51700	genome.wustl.edu	37	11	7690527	7690527	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:7690527A>C	ENST00000533558.1	-	5	853	c.297T>G	c.(295-297)ggT>ggG	p.G99G	CYB5R2_ENST00000299498.6_Silent_p.G99G|CYB5R2_ENST00000524790.1_Silent_p.G99G|CYB5R2_ENST00000299497.9_Silent_p.G99G|CYB5R2_ENST00000528585.1_5'UTR			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	99	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCATCTTCCCACCTTCAGGAT	0.478																																						dbGAP											0													131.0	125.0	127.0					11																	7690527		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.297T>G	11.37:g.7690527A>C			Q9BVA3|Q9UF68|Q9UHJ0	Silent	SNP	pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	p.G99	ENST00000533558.1	37	c.297	CCDS7780.1	11																																																																																			CYB5R2	-	pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000166394		0.478	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R2	HGNC	protein_coding	OTTHUMT00000385679.1	205	0.49	1	A	NM_016229		7690527	7690527	-1	no_errors	ENST00000299498	ensembl	human	known	69_37n	silent	136	12.26	19	SNP	0.749	C
CYFIP2	26999	genome.wustl.edu	37	5	156736761	156736761	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:156736761T>G	ENST00000521420.1	+	9	924	c.833T>G	c.(832-834)gTg>gGg	p.V278G	CYFIP2_ENST00000347377.6_Missense_Mutation_p.V304G|CYFIP2_ENST00000377576.3_Missense_Mutation_p.V304G|CYFIP2_ENST00000318218.6_Missense_Mutation_p.V304G|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.V108G|CYFIP2_ENST00000541131.1_Missense_Mutation_p.V229G|CYFIP2_ENST00000435847.2_5'Flank					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGCTGCAGGTGGTGCCCCTT	0.572																																						dbGAP											0													55.0	60.0	58.0					5																	156736761		2026	4194	6220	-	-	-	SO:0001583	missense	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.833T>G	5.37:g.156736761T>G	ENSP00000430904:p.Val278Gly			Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.V304G	ENST00000521420.1	37	c.911		5	.	.	.	.	.	.	.	.	.	.	T	24.9	4.585013	0.86748	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131	T;T;T;T;T;T	0.26518	1.73;1.78;1.79;1.78;1.78;1.8	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.52451	0.1735	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D;P	0.76494	0.999;0.999;0.999;0.997;0.999;0.932	D;D;D;P;D;P	0.81914	0.995;0.98;0.959;0.879;0.993;0.693	T	0.56511	-0.7967	10	0.87932	D	0	-29.9865	16.0205	0.80486	0.0:0.0:0.0:1.0	.	168;108;278;304;304;304	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	G	304;108;278;304;304;229	ENSP00000325817:V304G;ENSP00000428009:V108G;ENSP00000430904:V278G;ENSP00000313567:V304G;ENSP00000366799:V304G;ENSP00000444645:V229G	ENSP00000325817:V304G	V	+	2	0	CYFIP2	156669339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.194000	0.70268	0.533000	0.62120	GTG	CYFIP2	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.572	CYFIP2-001	NOVEL	basic	protein_coding	CYFIP2	HGNC	protein_coding	OTTHUMT00000373710.1	114	0.00	0	T	NM_001037332		156736761	156736761	+1	no_errors	ENST00000318218	ensembl	human	known	69_37n	missense	132	13.16	20	SNP	1.000	G
CYP17A1	1586	genome.wustl.edu	37	10	104596883	104596883	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:104596883T>G	ENST00000369887.3	-	1	407	c.236A>C	c.(235-237)cAc>cCc	p.H79P	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	79					adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	GGCCAGCTGGTGGTGGCCGAC	0.532																																						dbGAP											0													113.0	96.0	102.0					10																	104596883		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.236A>C	10.37:g.104596883T>G	ENSP00000358903:p.His79Pro		Q5TZV7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.H79P	ENST00000369887.3	37	c.236	CCDS7541.1	10	.	.	.	.	.	.	.	.	.	.	t	15.96	2.986556	0.53934	.	.	ENSG00000148795	ENST00000369887	T	0.74106	-0.81	5.36	4.16	0.48862	.	0.894030	0.09961	N	0.733493	T	0.79969	0.4538	L	0.41824	1.3	0.37763	D	0.926381	D	0.69078	0.997	D	0.67725	0.953	T	0.76244	-0.3030	10	0.42905	T	0.14	.	11.8275	0.52275	0.131:0.0:0.0:0.869	.	79	P05093	CP17A_HUMAN	P	79	ENSP00000358903:H79P	ENSP00000358903:H79P	H	-	2	0	CYP17A1	104586873	1.000000	0.71417	0.470000	0.27216	0.209000	0.24338	5.656000	0.67988	2.154000	0.67381	0.375000	0.23000	CAC	CYP17A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000148795		0.532	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP17A1	HGNC	protein_coding	OTTHUMT00000050101.1	127	0.00	0	T	NM_000102		104596883	104596883	-1	no_errors	ENST00000369887	ensembl	human	known	69_37n	missense	106	17.05	22	SNP	0.972	G
CYP21A2	1589	genome.wustl.edu	37	6	32008363	32008363	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:32008363T>G	ENST00000418967.2	+	8	1276		c.e8+2		CYP21A2_ENST00000435122.2_Splice_Site	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2						glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	GCCCAGCAGGTGACTCCCGAG	0.667																																					Melanoma(174;1669 1998 3915 34700 46447)	dbGAP											0													16.0	16.0	16.0					6																	32008363		2152	4196	6348	-	-	-	SO:0001630	splice_region_variant	0			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1118+2T>G	6.37:g.32008363T>G			A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Splice_Site	SNP	-	e8+2	ENST00000418967.2	37	c.1118+2	CCDS4735.1	6	.	.	.	.	.	.	.	.	.	.	t	17.35	3.366350	0.61513	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.8173	0.46585	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYP21A2	32116342	0.914000	0.31030	0.998000	0.56505	0.728000	0.41692	1.783000	0.38664	2.128000	0.65567	0.529000	0.55759	.	CYP21A2	-	-	ENSG00000231852		0.667	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	63	0.00	0	T	NM_000500	Intron	32008363	32008363	+1	no_errors	ENST00000418967	ensembl	human	known	69_37n	splice_site	50	16.67	10	SNP	1.000	G
CYP27B1	1594	genome.wustl.edu	37	12	58158219	58158219	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:58158219A>G	ENST00000228606.4	-	6	1287	c.1078T>C	c.(1078-1080)Tca>Cca	p.S360P	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	360					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	ACAGTGGCTGAGGGGTAGGCA	0.602																																						dbGAP											0													113.0	119.0	117.0					12																	58158219		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.1078T>C	12.37:g.58158219A>G	ENSP00000228606:p.Ser360Pro		B2RC61|Q548T3	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S360P	ENST00000228606.4	37	c.1078	CCDS8954.1	12	.	.	.	.	.	.	.	.	.	.	G	6.501	0.460722	0.12342	.	.	ENSG00000111012	ENST00000228606;ENST00000546567	T;T	0.70164	-0.46;2.57	4.79	1.72	0.24424	.	1.137570	0.06349	N	0.709460	T	0.49830	0.1580	N	0.21448	0.665	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.35375	-0.9791	10	0.45353	T	0.12	0.023	2.9207	0.05768	0.3769:0.0:0.4297:0.1934	.	360	O15528	CP27B_HUMAN	P	360;125	ENSP00000228606:S360P;ENSP00000449472:S125P	ENSP00000228606:S360P	S	-	1	0	CYP27B1	56444486	0.000000	0.05858	0.010000	0.14722	0.868000	0.49771	0.043000	0.13971	-0.075000	0.12798	-1.403000	0.01137	TCA	CYP27B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000111012		0.602	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27B1	HGNC	protein_coding	OTTHUMT00000409248.1	71	0.00	0	A	NM_000785		58158219	58158219	-1	no_errors	ENST00000228606	ensembl	human	known	69_37n	missense	74	15.73	14	SNP	0.023	G
CYP2C8	1558	genome.wustl.edu	37	10	96796918	96796918	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:96796918T>G	ENST00000371270.3	-	9	1534	c.1440A>C	c.(1438-1440)ccA>ccC	p.P480P	CYP2C8_ENST00000535898.1_Silent_p.P378P	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	480					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	GGTATGAGGGTGGCAGAGAAA	0.408																																						dbGAP											0													143.0	149.0	147.0					10																	96796918		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1440A>C	10.37:g.96796918T>G			A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.P480	ENST00000371270.3	37	c.1440	CCDS7438.1	10																																																																																			CYP2C8	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000138115		0.408	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C8	HGNC	protein_coding	OTTHUMT00000049499.2	347	0.85	3	T	NM_000770		96796918	96796918	-1	no_errors	ENST00000371270	ensembl	human	known	69_37n	silent	190	16.23	37	SNP	0.088	G
CYP2F1	1572	genome.wustl.edu	37	19	41622454	41622454	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:41622454T>G	ENST00000331105.2	+	3	338	c.266T>G	c.(265-267)gTg>gGg	p.V89G		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	89					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GAGGCCCTGGTGGACCAGGGA	0.597																																						dbGAP											0													105.0	102.0	103.0					19																	41622454		2203	4300	6503	-	-	-	SO:0001583	missense	0			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.266T>G	19.37:g.41622454T>G	ENSP00000333534:p.Val89Gly		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.V89G	ENST00000331105.2	37	c.266	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820570	0.50633	.	.	ENSG00000197446	ENST00000331105	T	0.69040	-0.37	3.91	2.88	0.33553	.	0.238961	0.34156	U	0.004204	T	0.77928	0.4204	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.72625	0.978;0.962	T	0.75679	-0.3234	10	0.87932	D	0	.	4.1021	0.10018	0.1805:0.103:0.0:0.7164	.	89;89	Q32MN5;P24903	.;CP2F1_HUMAN	G	89	ENSP00000333534:V89G	ENSP00000333534:V89G	V	+	2	0	CYP2F1	46314294	1.000000	0.71417	0.728000	0.30774	0.607000	0.37147	4.545000	0.60698	0.563000	0.29222	0.445000	0.29226	GTG	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000197446		0.597	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	201	0.98	2	T			41622454	41622454	+1	no_errors	ENST00000331105	ensembl	human	known	69_37n	missense	94	15.18	17	SNP	0.996	G
CYP4X1	260293	genome.wustl.edu	37	1	47512151	47512151	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:47512151T>G	ENST00000371901.3	+	9	1336	c.1086T>G	c.(1084-1086)ggT>ggG	p.G362G	CYP4X1_ENST00000538609.1_Silent_p.G361G	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	362						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ACCAGCTGGGTGAGATGTCGT	0.478																																						dbGAP											0													145.0	126.0	132.0					1																	47512151		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1086T>G	1.37:g.47512151T>G			G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Silent	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.G362	ENST00000371901.3	37	c.1086	CCDS544.1	1																																																																																			CYP4X1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000186377		0.478	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4X1	HGNC	protein_coding	OTTHUMT00000022017.1	119	0.00	0	T	NM_178033		47512151	47512151	+1	no_errors	ENST00000371901	ensembl	human	known	69_37n	silent	117	18.75	27	SNP	0.004	G
DAG1	1605	genome.wustl.edu	37	3	49569309	49569309	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:49569309A>C	ENST00000539901.1	+	3	1923	c.1365A>C	c.(1363-1365)acA>acC	p.T455T	DAG1_ENST00000308775.2_Silent_p.T455T|DAG1_ENST00000515359.2_Silent_p.T455T|DAG1_ENST00000538711.1_Silent_p.T455T|DAG1_ENST00000541308.1_Silent_p.T455T|DAG1_ENST00000545947.1_Silent_p.T455T	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	455	Mucin-like domain.|Thr-rich.				basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACCACGGACACCCCGGCCAG	0.592																																						dbGAP											0													127.0	133.0	131.0					3																	49569309		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.1365A>C	3.37:g.49569309A>C			A8K6M7|Q969J9	Silent	SNP	pfam_DAG1,superfamily_Cadherin-like,smart_Cadg	p.T455	ENST00000539901.1	37	c.1365	CCDS2799.1	3																																																																																			DAG1	-	NULL	ENSG00000173402		0.592	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1	290	0.00	0	A			49569309	49569309	+1	no_errors	ENST00000308775	ensembl	human	known	69_37n	silent	163	13.68	26	SNP	0.002	C
DAND5	199699	genome.wustl.edu	37	19	13084301	13084301	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:13084301A>C	ENST00000317060.2	+	2	602	c.423A>C	c.(421-423)ccA>ccC	p.P141P	DAND5_ENST00000585548.1_3'UTR	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	141	CTCK.				atrial septum development (GO:0003283)|determination of heart left/right asymmetry (GO:0061371)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of nodal signaling pathway (GO:1900108)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|sequestering of nodal from receptor via nodal binding (GO:0038101)|ventricular septum development (GO:0003281)	extracellular region (GO:0005576)	morphogen activity (GO:0016015)			kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			ACCCCACCCCACTAGTCCTGT	0.612																																						dbGAP											0													153.0	134.0	141.0					19																	13084301		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095926	CCDS12291.1	19p13	2013-02-26	2013-02-26			ENSG00000179284			26780	protein-coding gene	gene with protein product		609068	"""DAN domain family, member 5"""			15254711	Standard	NM_152654		Approved	FLJ38607, CKTSF1B3, DANTE, GREM3, CER2, DTE	uc002mwc.1	Q8N907		ENST00000317060.2:c.423A>C	19.37:g.13084301A>C				Silent	SNP	pfam_DAN,pirsf_Cerberus	p.P141	ENST00000317060.2	37	c.423	CCDS12291.1	19																																																																																			DAND5	-	pfam_DAN,pirsf_Cerberus	ENSG00000179284		0.612	DAND5-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DAND5	HGNC	protein_coding	OTTHUMT00000452761.1	172	0.00	0	A	NM_152654		13084301	13084301	+1	no_errors	ENST00000317060	ensembl	human	known	69_37n	silent	175	10.66	21	SNP	0.000	C
DAP	1611	genome.wustl.edu	37	5	10681156	10681156	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:10681156T>G	ENST00000230895.6	-	0	524				DAP_ENST00000432074.2_Missense_Mutation_p.H93P	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cellular response to amino acid starvation (GO:0034198)|negative regulation of autophagy (GO:0010507)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)		death domain binding (GO:0070513)			endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				GGCAGGCTGGTGGACTCCAGG	0.592																																						dbGAP											0													79.0	63.0	68.0					5																	10681156		2201	4299	6500	-	-	-	SO:0001624	3_prime_UTR_variant	0			X76105	CCDS3880.1	5p15.2	2008-07-18			ENSG00000112977	ENSG00000112977			2672	protein-coding gene	gene with protein product		600954				8530096, 7828849	Standard	NM_004394		Approved		uc003jez.4	P51397	OTTHUMG00000131041	ENST00000230895.6:c.*12A>C	5.37:g.10681156T>G			Q6FGC3|Q9BUC9	Missense_Mutation	SNP	NULL	p.H93P	ENST00000230895.6	37	c.278	CCDS3880.1	5	.	.	.	.	.	.	.	.	.	.	T	13.72	2.322472	0.41096	.	.	ENSG00000112977	ENST00000432074	.	.	.	4.47	-0.54	0.11861	.	.	.	.	.	T	0.27419	0.0673	.	.	.	0.09310	N	1	B	0.26258	0.145	B	0.14023	0.01	T	0.17623	-1.0363	7	0.87932	D	0	.	5.93	0.19134	0.1275:0.5122:0.0:0.3603	.	93	B4DQ75	.	P	93	.	ENSP00000394163:H93P	H	-	2	0	DAP	10734156	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.508000	0.00447	-0.373000	0.07979	-0.408000	0.06270	CAC	DAP	-	NULL	ENSG00000112977		0.592	DAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP	HGNC	protein_coding	OTTHUMT00000253687.1	167	0.00	0	T	NM_004394		10681156	10681156	-1	no_errors	ENST00000432074	ensembl	human	putative	69_37n	missense	145	14.20	24	SNP	0.000	G
DAP	1611	genome.wustl.edu	37	5	10681247	10681247	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:10681247A>C	ENST00000230895.6	-	4	433	c.230T>G	c.(229-231)gTg>gGg	p.V77G	DAP_ENST00000432074.2_Missense_Mutation_p.W63G	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	77					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cellular response to amino acid starvation (GO:0034198)|negative regulation of autophagy (GO:0010507)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)		death domain binding (GO:0070513)			endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				CTGGTGAGCCACCTGCGCAGC	0.587																																						dbGAP											0													65.0	55.0	58.0					5																	10681247		2200	4299	6499	-	-	-	SO:0001583	missense	0			X76105	CCDS3880.1	5p15.2	2008-07-18			ENSG00000112977	ENSG00000112977			2672	protein-coding gene	gene with protein product		600954				8530096, 7828849	Standard	NM_004394		Approved		uc003jez.4	P51397	OTTHUMG00000131041	ENST00000230895.6:c.230T>G	5.37:g.10681247A>C	ENSP00000230895:p.Val77Gly		Q6FGC3|Q9BUC9	Missense_Mutation	SNP	NULL	p.V77G	ENST00000230895.6	37	c.230	CCDS3880.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.65|16.65	3.183153|3.183153	0.57800|0.57800	.|.	.|.	ENSG00000112977|ENSG00000112977	ENST00000230895|ENST00000432074	T|.	0.34072|.	1.38|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|.	.|.	.|.	.|.	T|T	0.72518|0.72518	0.3470|0.3470	M|M	0.76938|0.76938	2.355|2.355	0.29023|0.29023	N|N	0.886163|0.886163	D|D	0.76494|0.89917	0.999|1.0	D|D	0.83275|0.87578	0.996|0.998	T|T	0.68754|0.68754	-0.5325|-0.5325	9|7	0.27082|.	T|.	0.32|.	-30.28|-30.28	13.5893|13.5893	0.61951|0.61951	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	77|63	P51397|B4DQ75	DAP1_HUMAN|.	G|G	77|63	ENSP00000230895:V77G|.	ENSP00000230895:V77G|.	V|W	-|-	2|1	0|0	DAP|DAP	10734247|10734247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	6.283000|6.283000	0.72646|0.72646	1.861000|1.861000	0.53984|0.53984	0.533000|0.533000	0.62120|0.62120	GTG|TGG	DAP	-	NULL	ENSG00000112977		0.587	DAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP	HGNC	protein_coding	OTTHUMT00000253687.1	135	0.72	1	A	NM_004394		10681247	10681247	-1	no_errors	ENST00000230895	ensembl	human	known	69_37n	missense	79	24.30	26	SNP	1.000	C
BRINP1	1620	genome.wustl.edu	37	9	121971015	121971015	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:121971015T>G	ENST00000265922.3	-	7	1588	c.1127A>C	c.(1126-1128)cAc>cCc	p.H376P	BRINP1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	376					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											AGGCAGCTGGTGGTTGGGATT	0.552																																						dbGAP											0													183.0	159.0	167.0					9																	121971015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1127A>C	9.37:g.121971015T>G	ENSP00000265922:p.His376Pro		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.H376P	ENST00000265922.3	37	c.1127	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307618	0.81247	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.14144	2.53	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.28764	0.0713	L	0.44542	1.39	0.80722	D	1	D	0.57571	0.98	D	0.64321	0.924	T	0.00733	-1.1589	10	0.62326	D	0.03	-30.1688	15.3199	0.74112	0.0:0.0:0.0:1.0	.	376	O60477	DBC1_HUMAN	P	376	ENSP00000265922:H376P	ENSP00000265922:H376P	H	-	2	0	DBC1	121010836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.665000	0.83852	2.205000	0.71048	0.528000	0.53228	CAC	DBC1	-	NULL	ENSG00000078725		0.552	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	298	0.66	2	T	NM_014618		121971015	121971015	-1	no_errors	ENST00000265922	ensembl	human	known	69_37n	missense	179	15.96	34	SNP	1.000	G
DCAF4L2	138009	genome.wustl.edu	37	8	88885140	88885140	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:88885140A>G	ENST00000319675.3	-	1	1156	c.1060T>C	c.(1060-1062)Tcc>Ccc	p.S354P		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	354										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGGTATGGGGAGGGTATGGTT	0.627																																						dbGAP											0													79.0	88.0	85.0					8																	88885140		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.1060T>C	8.37:g.88885140A>G	ENSP00000316496:p.Ser354Pro			Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S354P	ENST00000319675.3	37	c.1060	CCDS6245.1	8	.	.	.	.	.	.	.	.	.	.	A	14.73	2.622800	0.46840	.	.	ENSG00000176566	ENST00000319675	T	0.24350	1.86	1.37	-2.27	0.06846	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.40595	0.1123	M	0.80616	2.505	0.09310	N	0.999998	D	0.76494	0.999	D	0.87578	0.998	T	0.18555	-1.0333	10	0.42905	T	0.14	.	3.0317	0.06109	0.5535:0.2468:0.1997:0.0	.	354	Q8NA75	DC4L2_HUMAN	P	354	ENSP00000316496:S354P	ENSP00000316496:S354P	S	-	1	0	DCAF4L2	88954256	1.000000	0.71417	0.002000	0.10522	0.068000	0.16541	4.131000	0.57970	-0.163000	0.10946	0.383000	0.25322	TCC	DCAF4L2	-	superfamily_WD40_repeat_dom	ENSG00000176566		0.627	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF4L2	HGNC	protein_coding	OTTHUMT00000375302.1	179	0.00	0	A	NM_152418		88885140	88885140	-1	no_errors	ENST00000319675	ensembl	human	known	69_37n	missense	164	13.99	27	SNP	0.216	G
DCAF8L2	347442	genome.wustl.edu	37	X	27766112	27766112	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:27766112T>G	ENST00000451261.2	+	5	1499	c.1100T>G	c.(1099-1101)gTg>gGg	p.V367G		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	367										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GATAAGAAAGTGGGACTGTAT	0.418																																						dbGAP											0													131.0	90.0	103.0					X																	27766112		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1100T>G	X.37:g.27766112T>G	ENSP00000462745:p.Val367Gly		B2RXH9|J3KT06	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V367G	ENST00000451261.2	37	c.1100	CCDS59162.1	X																																																																																			DCAF8L2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000189186		0.418	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	118	0.83	1	T	XM_293354		27766112	27766112	+1	no_errors	ENST00000451261	ensembl	human	known	69_37n	missense	184	10.68	22	SNP	1.000	G
DCST2	127579	genome.wustl.edu	37	1	154991032	154991032	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:154991032T>G	ENST00000368424.3	-	15	2368	c.2310A>C	c.(2308-2310)ccA>ccC	p.P770P		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	770	Pro-rich.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ATTTGGGGGGTGGGTGGGAAG	0.532																																						dbGAP											0													58.0	63.0	61.0					1																	154991032		1879	4106	5985	-	-	-	SO:0001819	synonymous_variant	0			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.2310A>C	1.37:g.154991032T>G			Q2M2R2|Q8N810|Q96M03	Silent	SNP	pfam_DC_STAMP-like	p.P770	ENST00000368424.3	37	c.2310	CCDS1082.2	1																																																																																			DCST2	-	NULL	ENSG00000163354		0.532	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	147	0.00	0	T	NM_144622		154991032	154991032	-1	no_errors	ENST00000368424	ensembl	human	known	69_37n	silent	284	14.71	49	SNP	0.002	G
DCST2	127579	genome.wustl.edu	37	1	154991036	154991036	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:154991036T>G	ENST00000368424.3	-	15	2364	c.2306A>C	c.(2305-2307)cAc>cCc	p.H769P		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	769	Pro-rich.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGGGGTGGGTGGGAAGGATC	0.527																																						dbGAP											0													66.0	72.0	70.0					1																	154991036		1894	4118	6012	-	-	-	SO:0001583	missense	0			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.2306A>C	1.37:g.154991036T>G	ENSP00000357409:p.His769Pro		Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	pfam_DC_STAMP-like	p.H769P	ENST00000368424.3	37	c.2306	CCDS1082.2	1	.	.	.	.	.	.	.	.	.	.	T	2.311	-0.357947	0.05138	.	.	ENSG00000163354	ENST00000368424	T	0.21543	2.0	2.1	0.894	0.19242	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.24846	N	0.992438	P	0.38565	0.637	B	0.20955	0.032	T	0.37384	-0.9708	9	0.87932	D	0	-0.0577	4.2128	0.10519	0.3066:0.0:0.0:0.6934	.	769	Q5T1A1	DCST2_HUMAN	P	769	ENSP00000357409:H769P	ENSP00000357409:H769P	H	-	2	0	DCST2	153257660	0.028000	0.19301	0.283000	0.24790	0.005000	0.04900	-0.022000	0.12480	0.222000	0.20900	-0.695000	0.03696	CAC	DCST2	-	NULL	ENSG00000163354		0.527	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	153	0.65	1	T	NM_144622		154991036	154991036	-1	no_errors	ENST00000368424	ensembl	human	known	69_37n	missense	285	17.82	62	SNP	0.377	G
DCTN2	10540	genome.wustl.edu	37	12	57928141	57928141	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:57928141T>G	ENST00000548249.1	-	6	725	c.458A>C	c.(457-459)cAc>cCc	p.H153P	DCTN2_ENST00000537439.1_Missense_Mutation_p.H130P|DCTN2_ENST00000543672.1_Missense_Mutation_p.H158P|DCTN2_ENST00000434715.3_Missense_Mutation_p.H158P|DCTN2_ENST00000551400.1_5'Flank	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	153					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CTTCTCCAGGTGGGAAGCAAC	0.552																																						dbGAP											0													58.0	61.0	60.0					12																	57928141		2035	4203	6238	-	-	-	SO:0001583	missense	0			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.458A>C	12.37:g.57928141T>G	ENSP00000447824:p.His153Pro		B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	pfam_Dynamitin_2su	p.H158P	ENST00000548249.1	37	c.473	CCDS58245.1	12	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730914	0.89390	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000546758;ENST00000550954;ENST00000550750	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.76926	0.4056	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.75448	-0.3314	9	0.33940	T	0.23	-25.135	14.7093	0.69215	0.0:0.0:0.0:1.0	.	153;158;153	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	P	153;158;158;130;153;66;37;167;130	.	ENSP00000346785:H153P	H	-	2	0	DCTN2	56214408	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.602000	0.82796	2.371000	0.80710	0.533000	0.62120	CAC	DCTN2	-	pfam_Dynamitin_2su	ENSG00000175203		0.552	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCTN2	HGNC	protein_coding	OTTHUMT00000407393.2	109	0.00	0	T	NM_006400		57928141	57928141	-1	no_errors	ENST00000434715	ensembl	human	known	69_37n	missense	59	22.37	17	SNP	1.000	G
DDC	1644	genome.wustl.edu	37	7	50547559	50547559	+	Missense_Mutation	SNP	A	A	C	rs188088947		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:50547559A>C	ENST00000444124.2	-	10	1147	c.947T>G	c.(946-948)gTg>gGg	p.V316G	DDC_ENST00000426377.1_Missense_Mutation_p.V238G|DDC_ENST00000431062.1_Missense_Mutation_p.V223G|DDC_ENST00000357936.5_Missense_Mutation_p.V316G	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	316					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	TCTCTTTTTCACCCTGGTTTT	0.527																																						dbGAP											0													175.0	158.0	164.0					7																	50547559		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.947T>G	7.37:g.50547559A>C	ENSP00000403644:p.Val316Gly		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Aromatic_deC	p.V316G	ENST00000444124.2	37	c.947	CCDS5511.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.067446|4.067446	0.76301|0.76301	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124|ENST00000430300	T;T;T;T|.	0.48836|.	0.8;0.8;0.8;0.8|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.115777|.	0.64402|.	D|.	0.000016|.	D|.	0.85186|.	0.5639|.	M|M	0.92219|0.92219	3.285|3.285	0.80722|0.80722	D|D	1|1	D;D|.	0.57899|.	0.981;0.981|.	D;D|.	0.81914|.	0.995;0.995|.	D|.	0.88657|.	0.3186|.	10|.	0.87932|.	D|.	0|.	-34.0544|-34.0544	15.3338|15.3338	0.74234|0.74234	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	316;316|.	Q53Y41;P20711|.	.;DDC_HUMAN|.	G|G	316;223;238;316|197	ENSP00000350616:V316G;ENSP00000399184:V223G;ENSP00000395069:V238G;ENSP00000403644:V316G|.	ENSP00000350616:V316G|.	V|X	-|-	2|1	0|0	DDC|DDC	50515053|50515053	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.767000|0.767000	0.43475|0.43475	8.130000|8.130000	0.89598|0.89598	2.266000|2.266000	0.75297|0.75297	0.533000|0.533000	0.62120|0.62120	GTG|TGA	DDC	-	pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000132437		0.527	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DDC	HGNC	protein_coding	OTTHUMT00000342593.1	224	0.00	0	A			50547559	50547559	-1	no_errors	ENST00000357936	ensembl	human	known	69_37n	missense	188	11.32	24	SNP	1.000	C
DDX11	1663	genome.wustl.edu	37	12	31250920	31250920	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:31250920A>C	ENST00000407793.2	+	18	2115	c.1864A>C	c.(1864-1866)Acc>Ccc	p.T622P	DDX11_ENST00000545668.1_Missense_Mutation_p.T622P|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.T622P|DDX11_ENST00000228264.6_Missense_Mutation_p.T596P|DDX11_ENST00000350437.4_Missense_Mutation_p.T622P	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	622					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)					TGCGGGGGGTACCATGCAGCC	0.577										Multiple Myeloma(12;0.14)																												dbGAP											0													58.0	60.0	59.0					12																	31250920		2202	4298	6500	-	-	-	SO:0001583	missense	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.1864A>C	12.37:g.31250920A>C	ENSP00000384703:p.Thr622Pro		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	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.T622P	ENST00000407793.2	37	c.1864	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739665	0.49045	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	3.23	3.23	0.37069	.	0.000000	0.85682	D	0.000000	T	0.66548	0.2800	H	0.94698	3.57	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73385	-0.3999	10	0.87932	D	0	.	9.5852	0.39512	1.0:0.0:0.0:0.0	.	596;622;622;622	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	P	622;622;347;596;622;622	ENSP00000443426:T622P;ENSP00000384703:T622P;ENSP00000228264:T596P;ENSP00000440402:T622P;ENSP00000309965:T622P	ENSP00000228264:T596P	T	+	1	0	DDX11	31142187	1.000000	0.71417	0.886000	0.34754	0.317000	0.28152	6.333000	0.72939	1.335000	0.45486	0.414000	0.27820	ACC	DDX11	-	tigrfam_DNA_helicase_DNA-repair_Rad3	ENSG00000013573		0.577	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	HGNC	protein_coding	OTTHUMT00000399728.1	197	0.50	1	A	NM_030653		31250920	31250920	+1	no_errors	ENST00000407793	ensembl	human	known	69_37n	missense	160	18.78	37	SNP	1.000	C
DENND1C	79958	genome.wustl.edu	37	19	6478861	6478861	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:6478861T>G	ENST00000381480.2	-	6	411	c.299A>C	c.(298-300)cAc>cCc	p.H100P	DENND1C_ENST00000591030.1_5'UTR|DENND1C_ENST00000543576.1_Missense_Mutation_p.H56P	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	100	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCAAGGCAGGTGGCTGTGGAG	0.592																																						dbGAP											0													55.0	67.0	63.0					19																	6478861		2051	4185	6236	-	-	-	SO:0001583	missense	0			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.299A>C	19.37:g.6478861T>G	ENSP00000370889:p.His100Pro		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.H100P	ENST00000381480.2	37	c.299	CCDS45938.1	19	.	.	.	.	.	.	.	.	.	.	T	8.646	0.897068	0.17686	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.11604	2.76;2.76	4.98	3.96	0.45880	DENN (3);	0.190200	0.47455	D	0.000228	T	0.16214	0.0390	L	0.58583	1.82	0.32184	N	0.579934	B	0.26195	0.144	B	0.40940	0.344	T	0.09530	-1.0670	10	0.49607	T	0.09	-27.1166	6.4817	0.22067	0.0:0.1943:0.0:0.8057	.	100	Q8IV53	DEN1C_HUMAN	P	100;56	ENSP00000370889:H100P;ENSP00000437805:H56P	ENSP00000370889:H100P	H	-	2	0	DENND1C	6429861	1.000000	0.71417	0.984000	0.44739	0.056000	0.15407	3.924000	0.56476	0.752000	0.32923	0.260000	0.18958	CAC	DENND1C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000205744		0.592	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1C	HGNC	protein_coding	OTTHUMT00000453332.2	110	0.89	1	T	NM_024898		6478861	6478861	-1	no_errors	ENST00000381480	ensembl	human	known	69_37n	missense	83	14.43	14	SNP	1.000	G
DENND2C	163259	genome.wustl.edu	37	1	115127989	115127989	+	3'UTR	DEL	A	A	-			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:115127989delA	ENST00000393274.1	-	0	3644				DENND2C_ENST00000481894.1_5'Flank|DENND2C_ENST00000393276.3_3'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C						positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		AGGCTGCTATAAAAAAAAAAT	0.408																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.*232T>-	1.37:g.115127989delA			B1AL26|Q5TCX6|Q6P3R3	RNA	DEL	-	NULL	ENST00000393274.1	37	NULL	CCDS58018.1	1																																																																																			DENND2C	-	-	ENSG00000175984		0.408	DENND2C-005	KNOWN	basic|CCDS	protein_coding	DENND2C	HGNC	protein_coding	OTTHUMT00000314822.1	13	0.00	0	A	NM_198459		115127989	115127989	-1	no_errors	ENST00000495031	ensembl	human	known	69_37n	rna	4	33.33	2	DEL	0.000	-
DEPDC5	9681	genome.wustl.edu	37	22	32198762	32198762	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:32198762T>G	ENST00000382112.3	+	14	1089	c.1019T>G	c.(1018-1020)gTg>gGg	p.V340G	DEPDC5_ENST00000536766.1_Missense_Mutation_p.V312G|DEPDC5_ENST00000400246.1_Missense_Mutation_p.V340G|DEPDC5_ENST00000400248.2_Missense_Mutation_p.V340G|DEPDC5_ENST00000382111.2_Missense_Mutation_p.V340G|DEPDC5_ENST00000266091.3_Missense_Mutation_p.V340G|DEPDC5_ENST00000400242.3_Missense_Mutation_p.V340G|DEPDC5_ENST00000382105.2_Missense_Mutation_p.V340G|DEPDC5_ENST00000400249.2_Missense_Mutation_p.V340G|DEPDC5_ENST00000535622.1_Missense_Mutation_p.V340G	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	340					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACGCCCGGGGTGGGTGTCTTT	0.468																																						dbGAP											0													168.0	164.0	165.0					22																	32198762		1990	4170	6160	-	-	-	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.1019T>G	22.37:g.32198762T>G	ENSP00000371546:p.Val340Gly		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.V340G	ENST00000382112.3	37	c.1019	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	T	23.4	4.411658	0.83340	.	.	ENSG00000100150	ENST00000535622;ENST00000536766;ENST00000400242;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	T;T;T;T;T;T;T;T;T;T	0.44083	1.49;1.49;0.93;1.89;1.89;1.88;1.48;1.89;1.88;1.89	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.55114	0.1900	L	0.46157	1.445	0.80722	D	1	D;P;B;B;D;B	0.58970	0.984;0.949;0.253;0.078;0.979;0.069	D;P;B;B;P;B	0.62955	0.909;0.596;0.261;0.246;0.877;0.039	T	0.54662	-0.8260	10	0.48119	T	0.1	.	14.7568	0.69572	0.0:0.0:0.0:1.0	.	340;312;340;340;340;340	B9EGN9;F5GYZ8;B4DH93;A8MPX9;O75140;O75140-2	.;.;.;.;DEPD5_HUMAN;.	G	340;312;340;340;340;340;340;340;340;340;340	ENSP00000440210:V340G;ENSP00000441358:V312G;ENSP00000383101:V340G;ENSP00000266091:V340G;ENSP00000383108:V340G;ENSP00000383105:V340G;ENSP00000371539:V340G;ENSP00000371546:V340G;ENSP00000371545:V340G;ENSP00000383107:V340G	ENSP00000266091:V340G	V	+	2	0	DEPDC5	30528762	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.793000	0.85851	2.080000	0.62538	0.529000	0.55759	GTG	DEPDC5	-	pfam_DUF3608	ENSG00000100150		0.468	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	258	0.39	1	T	NM_014662		32198762	32198762	+1	no_errors	ENST00000266091	ensembl	human	known	69_37n	missense	232	11.74	31	SNP	1.000	G
DEPDC5	9681	genome.wustl.edu	37	22	32289637	32289637	+	Missense_Mutation	SNP	A	A	G	rs201725540		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:32289637A>G	ENST00000382112.3	+	38	4146	c.4076A>G	c.(4075-4077)gAg>gGg	p.E1359G	DEPDC5_ENST00000400246.1_Missense_Mutation_p.E1368G|DEPDC5_ENST00000400248.2_Missense_Mutation_p.E1337G|DEPDC5_ENST00000382111.2_Missense_Mutation_p.E1368G|DEPDC5_ENST00000266091.3_Missense_Mutation_p.E1346G|DEPDC5_ENST00000539165.1_Missense_Mutation_p.E185G|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000400249.2_Missense_Mutation_p.E1337G|DEPDC5_ENST00000535622.1_Missense_Mutation_p.E1268G	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1368					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GACCGGCTGGAGTGGTGCAGC	0.557																																						dbGAP											0													82.0	91.0	88.0					22																	32289637		2041	4193	6234	-	-	-	SO:0001583	missense	0			AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4076A>G	22.37:g.32289637A>G	ENSP00000371546:p.Glu1359Gly		A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.E1346G	ENST00000382112.3	37	c.4037	CCDS46692.1	22	.	.	.	.	.	.	.	.	.	.	A	26.7	4.761181	0.89932	.	.	ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165	D;T;T;T;T;T;T	0.82893	-1.66;-1.21;-1.19;-0.82;-1.19;-0.82;-1.19	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.90246	0.6950	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;0.999	D;D;D;D;D;D	0.91635	0.99;0.993;0.999;0.994;0.986;0.986	D	0.91456	0.5185	10	0.87932	D	0	.	13.8902	0.63733	1.0:0.0:0.0:0.0	.	1368;1268;754;1346;1359;1337	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140	.;.;.;.;.;DEPD5_HUMAN	G	1268;1346;1337;1268;1368;1359;1368;1337;185	ENSP00000440210:E1268G;ENSP00000266091:E1346G;ENSP00000383108:E1337G;ENSP00000383105:E1368G;ENSP00000371546:E1359G;ENSP00000371545:E1368G;ENSP00000383107:E1337G	ENSP00000266091:E1346G	E	+	2	0	DEPDC5	30619637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.003000	0.93577	1.874000	0.54306	0.460000	0.39030	GAG	DEPDC5	-	NULL	ENSG00000100150		0.557	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DEPDC5	HGNC	protein_coding	OTTHUMT00000129087.1	200	0.00	0	A	NM_014662		32289637	32289637	+1	no_errors	ENST00000266091	ensembl	human	known	69_37n	missense	103	16.26	20	SNP	1.000	G
DFNA5	1687	genome.wustl.edu	37	7	24745879	24745879	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:24745879A>C	ENST00000342947.3	-	8	1532	c.1107T>G	c.(1105-1107)ggT>ggG	p.G369G	DFNA5_ENST00000545231.1_Silent_p.G205G|DFNA5_ENST00000419307.1_Silent_p.G205G|DFNA5_ENST00000409775.3_Silent_p.G369G|DFNA5_ENST00000409970.1_Silent_p.G205G	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	369					apoptotic process (GO:0006915)|inner ear receptor cell differentiation (GO:0060113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CCGGACACCCACCCTGTAAGC	0.617																																					GBM(78;184 1250 20134 20900 23600)	dbGAP											0													55.0	58.0	57.0					7																	24745879		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007790	CCDS5389.1, CCDS47563.1	7p15	2011-07-01			ENSG00000105928	ENSG00000105928			2810	protein-coding gene	gene with protein product		608798				8589696, 9450185	Standard	NM_004403		Approved	ICERE-1	uc010kus.1	O60443	OTTHUMG00000023237	ENST00000342947.3:c.1107T>G	7.37:g.24745879A>C			A4D156|B2RAX9|B3KT05|O14590|Q08AQ8|Q9UBV3	Silent	SNP	pfam_Gasdermin	p.G369	ENST00000342947.3	37	c.1107	CCDS5389.1	7																																																																																			DFNA5	-	pfam_Gasdermin	ENSG00000105928		0.617	DFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNA5	HGNC	protein_coding	OTTHUMT00000214060.2	58	0.00	0	A	NM_004403		24745879	24745879	-1	no_errors	ENST00000342947	ensembl	human	known	69_37n	silent	56	25.00	19	SNP	0.000	C
DGCR6	8214	genome.wustl.edu	37	22	18898474	18898474	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:18898474T>G	ENST00000331444.6	+	4	598	c.446T>G	c.(445-447)gTg>gGg	p.V149G	DGCR6_ENST00000436645.1_3'UTR|DGCR6_ENST00000413981.1_Missense_Mutation_p.V13G	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6	149					cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GACCGGAAGGTGGCTGACCAG	0.692																																						dbGAP											0													94.0	78.0	83.0					22																	18898474		2203	4299	6502	-	-	-	SO:0001583	missense	0			X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.446T>G	22.37:g.18898474T>G	ENSP00000331681:p.Val149Gly		B2RCH5|D3DX15|G5E9J8|Q9BY28	Missense_Mutation	SNP	pfam_DGCR6	p.V149G	ENST00000331444.6	37	c.446	CCDS13753.1	22	.	.	.	.	.	.	.	.	.	.	t	24.8	4.572176	0.86542	.	.	ENSG00000183628	ENST00000331444;ENST00000436645	T	0.51071	0.72	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.69691	0.3139	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75147	-0.3420	10	0.87932	D	0	-40.7166	11.7314	0.51739	0.0:0.0:0.0:1.0	.	149	Q14129	DGCR6_HUMAN	G	149;69	ENSP00000331681:V149G	ENSP00000331681:V149G	V	+	2	0	DGCR6	17278474	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.076000	0.57591	1.958000	0.56883	0.352000	0.21897	GTG	DGCR6	-	pfam_DGCR6	ENSG00000183628		0.692	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6	HGNC	protein_coding	OTTHUMT00000316631.2	132	0.74	1	T	NM_005675		18898474	18898474	+1	no_errors	ENST00000331444	ensembl	human	known	69_37n	missense	60	20.00	15	SNP	1.000	G
DGCR14	8220	genome.wustl.edu	37	22	19130243	19130243	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:19130243T>G	ENST00000252137.6	-	2	343	c.300A>C	c.(298-300)ccA>ccC	p.P100P		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	100					mRNA splicing, via spliceosome (GO:0000398)|nervous system development (GO:0007399)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TCATACAGGGTGGCGGGGGCT	0.577																																						dbGAP											0													66.0	70.0	69.0					22																	19130243		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L77566	CCDS13756.1	22q11.21	2007-02-20			ENSG00000100056	ENSG00000100056			16817	protein-coding gene	gene with protein product		601755	"""DiGeorge syndrome critical region gene 13"""	DGCR13		8776594, 9063747	Standard	NM_022719		Approved	DGSI, Es2el, ES2, DGS-H	uc002zou.3	Q96DF8	OTTHUMG00000150119	ENST00000252137.6:c.300A>C	22.37:g.19130243T>G			Q49AH7|Q9BTZ4	Silent	SNP	pfam_Nuclear_protein_DGCR14	p.P100	ENST00000252137.6	37	c.300	CCDS13756.1	22																																																																																			DGCR14	-	pfam_Nuclear_protein_DGCR14	ENSG00000100056		0.577	DGCR14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR14	HGNC	protein_coding	OTTHUMT00000316432.2	65	0.00	0	T			19130243	19130243	-1	no_errors	ENST00000252137	ensembl	human	known	69_37n	silent	71	20.65	19	SNP	0.233	G
DGKA	1606	genome.wustl.edu	37	12	56346937	56346937	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:56346937A>C	ENST00000331886.5	+	22	2510	c.2056A>C	c.(2056-2058)Acc>Ccc	p.T686P	DGKA_ENST00000394147.1_Missense_Mutation_p.T686P|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.T686P	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	686					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CTCTGAGATCACCTTCCAGTA	0.567																																						dbGAP											0													80.0	79.0	79.0					12																	56346937		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.2056A>C	12.37:g.56346937A>C	ENSP00000328405:p.Thr686Pro		O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.T686P	ENST00000331886.5	37	c.2056	CCDS8896.1	12	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250950	0.80135	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	T;T;T	0.30981	1.51;1.51;1.51	4.83	4.83	0.62350	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.56077	0.1961	M	0.83223	2.63	0.58432	D	0.999994	D	0.54207	0.965	D	0.63703	0.917	T	0.62520	-0.6837	10	0.62326	D	0.03	.	13.6807	0.62484	1.0:0.0:0.0:0.0	.	686	P23743	DGKA_HUMAN	P	686	ENSP00000328405:T686P;ENSP00000377703:T686P;ENSP00000450359:T686P	ENSP00000328405:T686P	T	+	1	0	DGKA	54633204	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.792000	0.91856	1.932000	0.55993	0.459000	0.35465	ACC	DGKA	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory	ENSG00000065357		0.567	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKA	HGNC	protein_coding	OTTHUMT00000407291.1	128	0.78	1	A			56346937	56346937	+1	no_errors	ENST00000331886	ensembl	human	known	69_37n	missense	91	18.75	21	SNP	1.000	C
DHX30	22907	genome.wustl.edu	37	3	47859552	47859552	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:47859552A>C	ENST00000445061.1	+	4	476	c.69A>C	c.(67-69)ccA>ccC	p.P23P	DHX30_ENST00000476446.1_3'UTR|DHX30_ENST00000348968.4_5'UTR|DHX30_ENST00000446256.2_5'UTR	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	23						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		aacttcccccaccccgccttc	0.617																																						dbGAP											0													164.0	147.0	153.0					3																	47859552		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.69A>C	3.37:g.47859552A>C			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P23	ENST00000445061.1	37	c.69	CCDS2759.1	3																																																																																			DHX30	-	NULL	ENSG00000132153		0.617	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2	116	0.84	1	A	NM_138615		47859552	47859552	+1	no_errors	ENST00000445061	ensembl	human	known	69_37n	silent	110	17.78	24	SNP	0.997	C
DLAT	1737	genome.wustl.edu	37	11	111904192	111904192	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:111904192T>G	ENST00000280346.6	+	5	1384	c.725T>G	c.(724-726)gTg>gGg	p.V242G	RNU6-893P_ENST00000458841.1_RNA|DLAT_ENST00000537636.1_Intron|DLAT_ENST00000393051.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	242	Lipoyl-binding 2. {ECO:0000255|PROSITE- ProRule:PRU01066}.				cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		GAAAAAAAAGTGGGTGAGAAG	0.443																																						dbGAP											0													78.0	77.0	77.0					11																	111904192		2201	4297	6498	-	-	-	SO:0001583	missense	0			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.725T>G	11.37:g.111904192T>G	ENSP00000280346:p.Val242Gly		Q16783|Q53EP3	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L	p.V242G	ENST00000280346.6	37	c.725	CCDS8354.1	11	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505717	0.85282	.	.	ENSG00000150768	ENST00000280346;ENST00000534998	T	0.60424	0.19	6.16	3.87	0.44632	Single hybrid motif (1);Biotin/lipoyl attachment (2);	0.000000	0.85682	D	0.000000	T	0.76328	0.3972	M	0.88181	2.935	0.80722	D	1	D	0.62365	0.991	D	0.65987	0.94	T	0.78186	-0.2302	10	0.87932	D	0	-5.1302	10.4979	0.44788	0.0:0.1285:0.0:0.8715	.	242	P10515	ODP2_HUMAN	G	242;210	ENSP00000280346:V242G	ENSP00000280346:V242G	V	+	2	0	DLAT	111409402	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.671000	0.83941	0.571000	0.29365	0.528000	0.53228	GTG	DLAT	-	pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L	ENSG00000150768		0.443	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLAT	HGNC	protein_coding	OTTHUMT00000258167.1	169	0.00	0	T	NM_001931		111904192	111904192	+1	no_errors	ENST00000280346	ensembl	human	known	69_37n	missense	151	11.11	19	SNP	1.000	G
DLEC1	9940	genome.wustl.edu	37	3	38159298	38159298	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:38159298T>G	ENST00000308059.6	+	33	4508	c.4487T>G	c.(4486-4488)gTg>gGg	p.V1496G	DLEC1_ENST00000346219.3_Splice_Site_p.V1496G|DLEC1_ENST00000452631.2_Splice_Site_p.V1499G					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCTGCCCAGGTGCTGAGTGAG	0.582											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													100.0	108.0	105.0					3																	38159298		2102	4224	6326	-	-	-	SO:0001630	splice_region_variant	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4486-1T>G	3.37:g.38159298T>G		876		Missense_Mutation	SNP	superfamily_PapD-like	p.V1496G	ENST00000308059.6	37	c.4487	CCDS2672.2	3	.	.	.	.	.	.	.	.	.	.	T	21.7	4.185672	0.78789	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.53423	0.62;0.62;0.62	5.12	5.12	0.69794	.	0.461344	0.18246	U	0.147093	T	0.67646	0.2915	M	0.69823	2.125	0.80722	D	1	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.999;0.999	P;D;D;D;D	0.73708	0.899;0.943;0.976;0.948;0.981	T	0.70831	-0.4765	10	0.72032	D	0.01	-18.4843	14.8993	0.70666	0.0:0.0:0.0:1.0	.	1499;1496;1496;1496;1496	F8W6T4;B1B5Y4;B7ZW06;Q9Y238-3;Q9Y238	.;.;.;.;DLEC1_HUMAN	G	1496;1496;1499	ENSP00000308597:V1496G;ENSP00000315914:V1496G;ENSP00000410427:V1499G	ENSP00000308597:V1496G	V	+	2	0	DLEC1	38134302	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.943000	0.56621	1.930000	0.55929	0.528000	0.53228	GTG	DLEC1	-	NULL	ENSG00000008226		0.582	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	108	0.90	1	T	NM_007337	Missense_Mutation	38159298	38159298	+1	no_errors	ENST00000346219	ensembl	human	known	69_37n	missense	31	36.73	18	SNP	1.000	G
DLK1	8788	genome.wustl.edu	37	14	101195443	101195443	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:101195443A>C	ENST00000341267.4	+	3	504				DLK1_ENST00000331224.6_Intron|DLK1_ENST00000556051.1_Missense_Mutation_p.Y101S	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)						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)				CTGCGTCCTTACCTGCCTGcc	0.582																																						dbGAP											0													36.0	40.0	39.0					14																	101195443		2203	4300	6503	-	-	-	SO:0001627	intron_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.262+40A>C	14.37:g.101195443A>C			P15803|Q96DW5	Missense_Mutation	SNP	pfam_EGF_extracell,smart_EGF-like,pfscan_EG-like_dom	p.Y101S	ENST00000341267.4	37	c.302	CCDS9963.1	14	.	.	.	.	.	.	.	.	.	.	A	3.683	-0.065189	0.07273	.	.	ENSG00000185559	ENST00000556051	D	0.85955	-2.05	3.34	-1.02	0.10135	.	.	.	.	.	T	0.70404	0.3220	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.57585	-0.7786	5	.	.	.	.	0.4384	0.00482	0.2606:0.1974:0.3409:0.2011	.	.	.	.	S	101	ENSP00000450821:Y101S	.	Y	+	2	0	DLK1	100265196	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.538000	0.06120	-0.078000	0.12730	-1.182000	0.01712	TAC	DLK1	-	NULL	ENSG00000185559		0.582	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLK1	HGNC	protein_coding	OTTHUMT00000414389.1	91	0.00	0	A			101195443	101195443	+1	no_errors	ENST00000556051	ensembl	human	putative	69_37n	missense	40	28.07	16	SNP	0.001	C
DLX1	1745	genome.wustl.edu	37	2	172950625	172950625	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:172950625T>C	ENST00000361725.4	+	1	672	c.220T>C	c.(220-222)Tcg>Ccg	p.S74P	DLX1_ENST00000341900.6_Missense_Mutation_p.S74P	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	74					cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic skeletal system development (GO:0048706)|hippocampus development (GO:0021766)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CTACGTCAACTCGGTCAGCAG	0.667																																						dbGAP											0													76.0	77.0	76.0					2																	172950625		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC013010	CCDS2247.2, CCDS33328.1	2q31.1	2011-06-20	2005-12-22		ENSG00000144355	ENSG00000144355		"""Homeoboxes / ANTP class : NKL subclass"""	2914	protein-coding gene	gene with protein product		600029	"""distal-less homeo box 1"""			7907794	Standard	NM_001038493		Approved		uc002uhl.3	P56177	OTTHUMG00000073951	ENST00000361725.4:c.220T>C	2.37:g.172950625T>C	ENSP00000354478:p.Ser74Pro		D3DPD7|Q53ZU4|Q7Z724|Q8IYB2	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S74P	ENST00000361725.4	37	c.220	CCDS2247.2	2	.	.	.	.	.	.	.	.	.	.	T	10.33	1.321228	0.23994	.	.	ENSG00000144355	ENST00000361609;ENST00000469444;ENST00000361725;ENST00000341900	D;D;D	0.95518	-3.73;-3.26;-3.0	5.73	5.73	0.89815	.	0.064888	0.64402	D	0.000004	D	0.90086	0.6903	N	0.16233	0.39	0.80722	D	1	B;B;B	0.30634	0.001;0.009;0.288	B;B;B	0.24269	0.004;0.02;0.052	D	0.88340	0.2974	10	0.33940	T	0.23	-17.5863	16.0213	0.80499	0.0:0.0:0.0:1.0	.	74;74;74	F8VXJ2;Q7Z724;P56177	.;.;DLX1_HUMAN	P	74	ENSP00000354865:S74P;ENSP00000448827:S74P;ENSP00000354478:S74P	ENSP00000341786:S74P	S	+	1	0	DLX1	172658871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.054000	0.64275	2.185000	0.69588	0.460000	0.39030	TCG	DLX1	-	NULL	ENSG00000144355		0.667	DLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX1	HGNC	protein_coding	OTTHUMT00000405916.1	76	0.00	0	T	XM_087198		172950625	172950625	+1	no_errors	ENST00000361725	ensembl	human	known	69_37n	missense	45	11.76	6	SNP	1.000	C
DLX5	1749	genome.wustl.edu	37	7	96650195	96650195	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:96650195A>G	ENST00000222598.4	-	3	1196	c.723T>C	c.(721-723)ccT>ccC	p.P241P	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	241					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGGAGGTCGGAGGGTGGGCAT	0.657																																						dbGAP											0													65.0	57.0	60.0					7																	96650195		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.723T>C	7.37:g.96650195A>G			B7Z4P3|Q9UPL1	Silent	SNP	pfam_Distal-less_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.P241	ENST00000222598.4	37	c.723	CCDS5647.1	7																																																																																			DLX5	-	NULL	ENSG00000105880		0.657	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX5	HGNC	protein_coding	OTTHUMT00000334371.2	107	0.00	0	A			96650195	96650195	-1	no_errors	ENST00000222598	ensembl	human	known	69_37n	silent	123	16.33	24	SNP	1.000	G
DMBT1	1755	genome.wustl.edu	37	10	124335962	124335962	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:124335962T>G	ENST00000338354.3	+	7	437	c.331T>G	c.(331-333)Tgt>Ggt	p.C111G	DMBT1_ENST00000368955.3_Missense_Mutation_p.C111G|DMBT1_ENST00000330163.4_Missense_Mutation_p.C111G|DMBT1_ENST00000368956.2_Missense_Mutation_p.C111G|DMBT1_ENST00000344338.3_Missense_Mutation_p.C111G|DMBT1_ENST00000359586.6_Missense_Mutation_p.C111G|DMBT1_ENST00000368909.3_Missense_Mutation_p.C111G			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	111	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGATGGCAGGTGTCAGGGCCG	0.557																																					Ovarian(182;93 2026 18125 22222 38972)	dbGAP											0													145.0	149.0	148.0					10																	124335962		2058	4243	6301	-	-	-	SO:0001583	missense	0				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.331T>G	10.37:g.124335962T>G	ENSP00000342210:p.Cys111Gly		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt	p.C111G	ENST00000338354.3	37	c.331		10	.	.	.	.	.	.	.	.	.	.	t	15.94	2.981345	0.53827	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000359586	T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31	4.52	4.52	0.55395	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.62539	0.2436	M	0.83012	2.62	0.45025	D	0.998044	B;D;D;D;D	0.89917	0.178;0.999;1.0;0.999;1.0	B;D;D;D;D	0.97110	0.378;0.998;0.999;0.998;1.0	T	0.69068	-0.5243	9	0.66056	D	0.02	.	14.1349	0.65281	0.0:0.0:0.0:1.0	.	111;111;111;111;111	F8WEF7;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;DMBT1_HUMAN	G	111	ENSP00000342210:C111G;ENSP00000343175:C111G;ENSP00000327747:C111G;ENSP00000357905:C111G;ENSP00000357951:C111G;ENSP00000357952:C111G;ENSP00000352593:C111G	ENSP00000331522:C111G	C	+	1	0	DMBT1	124325952	0.998000	0.40836	0.849000	0.33467	0.117000	0.20001	3.021000	0.49651	1.795000	0.52594	0.533000	0.62120	TGT	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000187908		0.557	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	199	0.99	2	T	NM_004406		124335962	124335962	+1	no_errors	ENST00000368915	ensembl	human	known	69_37n	missense	162	14.29	27	SNP	0.998	G
DMKN	93099	genome.wustl.edu	37	19	35991002	35991002	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:35991002A>C	ENST00000339686.3	-	13	1464				DMKN_ENST00000429837.1_Intron|DMKN_ENST00000414866.2_Intron|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000443640.1_Intron|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000408915.2_Intron|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000467637.1_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000602781.1_Intron|DMKN_ENST00000402589.2_Intron|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000472252.2_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TAAACATCCCACCTTCCTGCC	0.517																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1288-71T>G	19.37:g.35991002A>C			A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	RNA	SNP	-	NULL	ENST00000339686.3	37	NULL	CCDS12463.1	19																																																																																			DMKN	-	-	ENSG00000161249		0.517	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	145	0.68	1	A	NM_033317		35991002	35991002	-1	no_errors	ENST00000469960	ensembl	human	putative	69_37n	rna	81	18.18	18	SNP	0.000	C
DMKN	93099	genome.wustl.edu	37	19	35991278	35991278	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:35991278A>C	ENST00000339686.3	-	12	1464				DMKN_ENST00000429837.1_Splice_Site|DMKN_ENST00000414866.2_Intron|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000443640.1_Splice_Site|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000408915.2_Intron|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000467637.1_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000602781.1_Splice_Site|DMKN_ENST00000402589.2_Splice_Site|DMKN_ENST00000480502.1_Splice_Site|DMKN_ENST00000472252.2_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TAGATGTCTCACCTTGGAAGT	0.537																																						dbGAP											0													98.0	93.0	94.0					19																	35991278		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1287+156T>G	19.37:g.35991278A>C			A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Splice_Site	SNP	-	NULL	ENST00000339686.3	37	c.NULL	CCDS12463.1	19	.	.	.	.	.	.	.	.	.	.	A	7.611	0.674795	0.14841	.	.	ENSG00000161249	ENST00000434389;ENST00000402589;ENST00000429837;ENST00000443857;ENST00000443640	.	.	.	4.41	1.96	0.26148	.	.	.	.	.	.	.	.	.	.	.	0.21719	N	0.999571	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.0158	0.06059	0.5574:0.2442:0.1984:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DMKN	40683118	0.326000	0.24669	0.489000	0.27452	0.038000	0.13279	0.841000	0.27613	0.667000	0.31107	0.358000	0.22013	.	DMKN	-	-	ENSG00000161249		0.537	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	163	0.00	0	A	NM_033317		35991278	35991278	-1	no_errors	ENST00000462721	ensembl	human	known	69_37n	splice_site	52	17.46	11	SNP	0.241	C
DMXL1	1657	genome.wustl.edu	37	5	118576144	118576144	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:118576144A>C	ENST00000311085.8	+	41	8699	c.8619A>C	c.(8617-8619)gcA>gcC	p.A2873A	DMXL1_ENST00000539542.1_Silent_p.A2894A|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2873										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTCTTGTAGCACCTGCCAATA	0.279																																						dbGAP											0													83.0	93.0	90.0					5																	118576144		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.8619A>C	5.37:g.118576144A>C				Silent	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A2894	ENST00000311085.8	37	c.8682	CCDS4125.1	5																																																																																			DMXL1	-	superfamily_WD40_repeat_dom	ENSG00000172869		0.279	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	207	0.48	1	A	NM_005509		118576144	118576144	+1	no_errors	ENST00000539542	ensembl	human	known	69_37n	silent	183	20.43	47	SNP	1.000	C
DNAH2	146754	genome.wustl.edu	37	17	7671381	7671381	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:7671381T>G	ENST00000572933.1	+	23	5297		c.e23+2		DNAH2_ENST00000389173.2_Splice_Site			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGTATAAGGTGGGGAGAAAC	0.582																																						dbGAP											0													52.0	58.0	56.0					17																	7671381		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.3837+2T>G	17.37:g.7671381T>G			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Splice_Site	SNP	-	e22+2	ENST00000572933.1	37	c.3837+2	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	T	15.10	2.734243	0.48939	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.27	1.94	0.25998	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3102	0.15825	0.156:0.0904:0.0:0.7536	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH2	7612106	0.998000	0.40836	0.740000	0.30986	0.828000	0.46876	3.281000	0.51685	0.061000	0.16311	0.402000	0.26972	.	DNAH2	-	-	ENSG00000183914		0.582	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	97	0.00	0	T	NM_020877	Intron	7671381	7671381	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	splice_site	60	21.05	16	SNP	0.979	G
DNAH2	146754	genome.wustl.edu	37	17	7696445	7696445	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:7696445A>C	ENST00000572933.1	+	48	8951	c.7491A>C	c.(7489-7491)ccA>ccC	p.P2497P	DNAH2_ENST00000389173.2_Silent_p.P2497P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2497	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGTCCCAGCCACCCCTGGAGC	0.517																																						dbGAP											0													101.0	90.0	94.0					17																	7696445		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7491A>C	17.37:g.7696445A>C			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.P2497	ENST00000572933.1	37	c.7491	CCDS32551.1	17																																																																																			DNAH2	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	ENSG00000183914		0.517	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	113	0.87	1	A	NM_020877		7696445	7696445	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	silent	63	23.17	19	SNP	0.901	C
DNAJB2	3300	genome.wustl.edu	37	2	220147923	220147923	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:220147923A>C	ENST00000336576.5	+	7	802	c.514A>C	c.(514-516)Acc>Ccc	p.T172P	DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Missense_Mutation_p.T172P	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	172					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein deubiquitination (GO:0090086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|inclusion body (GO:0016234)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TACATCTACCACCTTTGTCCA	0.552																																						dbGAP											0													98.0	81.0	87.0					2																	220147923		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2439.1, CCDS46519.1	2q32-q34	2011-09-02			ENSG00000135924	ENSG00000135924		"""Heat shock proteins / DNAJ (HSP40)"""	5228	protein-coding gene	gene with protein product		604139		HSJ1		1599432, 10516435	Standard	NM_006736		Approved	HSPF3	uc002vkx.1	P25686	OTTHUMG00000133134	ENST00000336576.5:c.514A>C	2.37:g.220147923A>C	ENSP00000338019:p.Thr172Pro		A8K9P6|Q8IUK1|Q8IUK2|Q96F52	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.T172P	ENST00000336576.5	37	c.514	CCDS2439.1	2	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566030	0.45694	.	.	ENSG00000135924	ENST00000336576;ENST00000425450;ENST00000392086;ENST00000392087	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.46	1.75	0.24633	.	0.241077	0.34777	N	0.003696	T	0.38692	0.1050	M	0.65975	2.015	0.26658	N	0.971969	B;B	0.16603	0.001;0.018	B;B	0.28139	0.001;0.086	T	0.41538	-0.9503	10	0.72032	D	0.01	.	5.2858	0.15700	0.7212:0.0:0.1467:0.1321	.	172;172	P25686;P25686-2	DNJB2_HUMAN;.	P	172;172;172;141	ENSP00000338019:T172P;ENSP00000414796:T172P;ENSP00000375936:T172P;ENSP00000375937:T141P	ENSP00000338019:T172P	T	+	1	0	DNAJB2	219856167	0.930000	0.31532	0.999000	0.59377	0.952000	0.60782	0.864000	0.27926	0.341000	0.23771	0.460000	0.39030	ACC	DNAJB2	-	NULL	ENSG00000135924		0.552	DNAJB2-001	KNOWN	basic|CCDS	protein_coding	DNAJB2	HGNC	protein_coding	OTTHUMT00000256823.2	114	0.86	1	A			220147923	220147923	+1	no_errors	ENST00000336576	ensembl	human	known	69_37n	missense	115	15.11	21	SNP	0.997	C
DNAJB6	10049	genome.wustl.edu	37	7	157175008	157175008	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:157175008T>G	ENST00000262177.4	+	6	620	c.415T>G	c.(415-417)Tcg>Gcg	p.S139A	DNAJB6_ENST00000429029.2_Missense_Mutation_p.S139A|DNAJB6_ENST00000443280.1_Intron|DNAJB6_ENST00000452797.2_Missense_Mutation_p.S90A	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	139	Gly/Phe-rich.|Interaction with HSP70.|Interaction with KRT18.				intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		AGGGACGGGGTCGTTTTTCTC	0.423																																					Esophageal Squamous(46;195 967 1350 20350 43814)	dbGAP											0													141.0	146.0	144.0					7																	157175008		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	14888	protein-coding gene	gene with protein product		611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.415T>G	7.37:g.157175008T>G	ENSP00000262177:p.Ser139Ala		A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.S139A	ENST00000262177.4	37	c.415	CCDS5946.1	7	.	.	.	.	.	.	.	.	.	.	T	3.973	-0.008039	0.07773	.	.	ENSG00000105993	ENST00000441561;ENST00000429029;ENST00000262177;ENST00000417758;ENST00000452797;ENST00000421417	T;T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98;-0.98	4.98	1.1	0.20463	.	2.307410	0.01726	N	0.028608	T	0.66499	0.2795	L	0.53249	1.67	0.09310	N	1	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.0	T	0.23297	-1.0192	10	0.15066	T	0.55	.	3.1639	0.06529	0.1347:0.1003:0.1386:0.6263	.	90;139;139;139	B4DN73;A8KAG0;O75190;O75190-2	.;.;DNJB6_HUMAN;.	A	139;139;139;139;90;139	ENSP00000410643:S139A;ENSP00000397556:S139A;ENSP00000262177:S139A;ENSP00000400665:S139A;ENSP00000402270:S90A	ENSP00000262177:S139A	S	+	1	0	DNAJB6	156867769	0.818000	0.29161	0.001000	0.08648	0.297000	0.27493	1.001000	0.29783	0.228000	0.21019	-0.440000	0.05779	TCG	DNAJB6	-	NULL	ENSG00000105993		0.423	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	DNAJB6	HGNC	protein_coding	OTTHUMT00000348119.2	516	0.76	4	T			157175008	157175008	+1	no_errors	ENST00000262177	ensembl	human	known	69_37n	missense	357	10.95	44	SNP	0.073	G
DNAJC11	55735	genome.wustl.edu	37	1	6697505	6697505	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:6697505A>C	ENST00000377577.5	-	13	1505		c.e13+1		DNAJC11_ENST00000465508.1_Splice_Site|DNAJC11_ENST00000294401.7_Splice_Site|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Splice_Site|DNAJC11_ENST00000542246.1_Splice_Site	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11							extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		ACATGTTCTCACCCATTCTGG	0.582																																						dbGAP											0													155.0	150.0	152.0					1																	6697505		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1381+1T>G	1.37:g.6697505A>C			Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Splice_Site	SNP	-	e13+2	ENST00000377577.5	37	c.1381+2	CCDS87.1	1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023784	0.35701	.	.	ENSG00000007923	ENST00000377577;ENST00000294401;ENST00000542246;ENST00000377573	.	.	.	5.78	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3432	0.55105	0.8586:0.1414:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAJC11	6620092	1.000000	0.71417	0.955000	0.39395	0.265000	0.26407	8.699000	0.91316	0.997000	0.38969	-0.313000	0.08912	.	DNAJC11	-	-	ENSG00000007923		0.582	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC11	HGNC	protein_coding	OTTHUMT00000004216.3	146	0.67	1	A	NM_018198	Intron	6697505	6697505	-1	no_errors	ENST00000377577	ensembl	human	known	69_37n	splice_site	128	12.67	19	SNP	0.996	C
DNASE2	1777	genome.wustl.edu	37	19	12989584	12989584	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:12989584T>G	ENST00000222219.3	-	4	503	c.411A>C	c.(409-411)ccA>ccC	p.P137P	DNASE2_ENST00000538460.1_Intron|CTD-2265O21.7_ENST00000592400.1_RNA	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	137					apoptotic DNA fragmentation (GO:0006309)|DNA metabolic process (GO:0006259)|erythrocyte differentiation (GO:0030218)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGGAGGCCGGTGGAGGGAAGT	0.592																																						dbGAP											0													69.0	60.0	63.0					19																	12989584		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF045937	CCDS12284.1	19p13.2	2012-10-02			ENSG00000105612	ENSG00000105612	3.1.22.1		2960	protein-coding gene	gene with protein product		126350		DNL, DNL2		1586130	Standard	NM_001375		Approved		uc002mvn.1	O00115		ENST00000222219.3:c.411A>C	19.37:g.12989584T>G			B2RD06|B7Z4K6|O43910	Silent	SNP	pfam_DNase_II	p.P137	ENST00000222219.3	37	c.411	CCDS12284.1	19																																																																																			DNASE2	-	pfam_DNase_II	ENSG00000105612		0.592	DNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE2	HGNC	protein_coding	OTTHUMT00000451790.1	137	0.00	0	T			12989584	12989584	-1	no_errors	ENST00000222219	ensembl	human	known	69_37n	silent	58	23.38	18	SNP	0.032	G
DNHD1	144132	genome.wustl.edu	37	11	6580251	6580251	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:6580251A>C	ENST00000527990.2	+	25	9331	c.9331A>C	c.(9331-9333)Acc>Ccc	p.T3111P	DNHD1_ENST00000254579.6_Missense_Mutation_p.T3111P			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3111					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCCACTCGTCACCCCCAAGAC	0.562																																						dbGAP											0													111.0	108.0	109.0					11																	6580251		692	1591	2283	-	-	-	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.9331A>C	11.37:g.6580251A>C	ENSP00000436180:p.Thr3111Pro		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE	p.T3111P	ENST00000527990.2	37	c.9331	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	A	13.25	2.182516	0.38511	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000524401;ENST00000526486;ENST00000526027	T;T	0.58506	0.33;0.33	6.03	6.03	0.97812	.	.	.	.	.	T	0.62073	0.2398	N	0.14661	0.345	0.36220	D	0.851911	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	T	0.73135	-0.4078	9	0.87932	D	0	.	15.5407	0.76043	1.0:0.0:0.0:0.0	.	23;3111	E9PNB2;Q96M86	.;DNHD1_HUMAN	P	3111;3111;176;23;23	ENSP00000254579:T3111P;ENSP00000436180:T3111P	ENSP00000254579:T3111P	T	+	1	0	DNHD1	6536827	0.999000	0.42202	0.987000	0.45799	0.807000	0.45602	4.925000	0.63425	2.308000	0.77769	0.533000	0.62120	ACC	DNHD1	-	NULL	ENSG00000179532		0.562	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	159	0.62	1	A	NM_144666		6580251	6580251	+1	no_errors	ENST00000254579	ensembl	human	known	69_37n	missense	150	18.48	34	SNP	0.998	C
DNMT3A	1788	genome.wustl.edu	37	2	25470534	25470534	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:25470534A>C	ENST00000264709.3	-	8	1277	c.940T>G	c.(940-942)Tgg>Ggg	p.W314G	DNMT3A_ENST00000321117.5_Missense_Mutation_p.W314G|DNMT3A_ENST00000380746.4_Missense_Mutation_p.W125G|DNMT3A_ENST00000402667.1_Missense_Mutation_p.W91G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	314	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGTCATCCACCAAGACACA	0.637			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													91.0	94.0	93.0					2																	25470534		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.940T>G	2.37:g.25470534A>C	ENSP00000264709:p.Trp314Gly		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.W314G	ENST00000264709.3	37	c.940	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	A	14.17	2.456949	0.43634	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37	4.97	4.97	0.65823	PWWP (3);	0.057603	0.85682	D	0.000000	T	0.44582	0.1300	N	0.03608	-0.345	0.80722	D	1	B;B	0.28971	0.014;0.229	B;B	0.29663	0.012;0.105	T	0.50030	-0.8875	10	0.48119	T	0.1	-7.0978	13.6031	0.62031	1.0:0.0:0.0:0.0	.	314;125	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	G	125;314;314;91	ENSP00000370122:W125G;ENSP00000324375:W314G;ENSP00000264709:W314G;ENSP00000384237:W91G	ENSP00000264709:W314G	W	-	1	0	DNMT3A	25324038	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.260000	0.51523	2.088000	0.63022	0.379000	0.24179	TGG	DNMT3A	-	pfam_PWWP,smart_PWWP,pfscan_PWWP	ENSG00000119772		0.637	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	140	0.00	0	A	NM_022552		25470534	25470534	-1	no_errors	ENST00000264709	ensembl	human	known	69_37n	missense	152	12.14	21	SNP	1.000	C
DNMT3A	1788	genome.wustl.edu	37	2	25523042	25523042	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:25523042A>C	ENST00000264709.3	-	3	480	c.143T>G	c.(142-144)gTg>gGg	p.V48G	DNMT3A_ENST00000406659.3_Missense_Mutation_p.V48G|DNMT3A_ENST00000321117.5_Missense_Mutation_p.V48G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	48					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCGCCCCACCTTCCGTGC	0.657			"""Mis, F, N, S"""		AML																																	dbGAP		Rec	yes		2	2p23	1788	DNA (cytosine-5-)-methyltransferase 3 alpha		L	0													89.0	71.0	77.0					2																	25523042		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.143T>G	2.37:g.25523042A>C	ENSP00000264709:p.Val48Gly		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.V48G	ENST00000264709.3	37	c.143	CCDS33157.1	2	.	.	.	.	.	.	.	.	.	.	A	20.5	3.992884	0.74703	.	.	ENSG00000119772	ENST00000321117;ENST00000264709;ENST00000406659	D;D	0.94537	-3.45;-3.45	5.35	5.35	0.76521	.	0.000000	0.37857	N	0.001917	D	0.94066	0.8098	N	0.19112	0.55	0.58432	D	0.999996	D;P	0.76494	0.999;0.909	D;D	0.80764	0.994;0.927	D	0.94693	0.7876	10	0.87932	D	0	-8.2228	11.7262	0.51710	1.0:0.0:0.0:0.0	.	48;48	Q9Y6K1-3;Q9Y6K1	.;DNM3A_HUMAN	G	48	ENSP00000324375:V48G;ENSP00000264709:V48G	ENSP00000264709:V48G	V	-	2	0	DNMT3A	25376546	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.326000	0.52037	2.016000	0.59253	0.379000	0.24179	GTG	DNMT3A	-	NULL	ENSG00000119772		0.657	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	DNMT3A	HGNC	protein_coding	OTTHUMT00000211587.1	77	0.00	0	A	NM_022552		25523042	25523042	-1	no_errors	ENST00000264709	ensembl	human	known	69_37n	missense	55	16.42	11	SNP	1.000	C
DOCK1	1793	genome.wustl.edu	37	10	128810561	128810561	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:128810561T>G	ENST00000280333.6	+	12	1170	c.1061T>G	c.(1060-1062)gTg>gGg	p.V354G	RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	354					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCACCCAGGGTGGCAGGGGAG	0.522																																						dbGAP											0													118.0	113.0	115.0					10																	128810561		1993	4161	6154	-	-	-	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.1061T>G	10.37:g.128810561T>G	ENSP00000280333:p.Val354Gly		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.V354G	ENST00000280333.6	37	c.1061		10	.	.	.	.	.	.	.	.	.	.	T	18.40	3.616619	0.66672	.	.	ENSG00000150760	ENST00000280333	T	0.19669	2.13	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	M	0.72118	2.19	0.80722	D	1	P	0.44659	0.84	P	0.45343	0.477	T	0.20240	-1.0281	10	0.87932	D	0	.	14.1576	0.65428	0.0:0.0:0.0:1.0	.	354	Q14185	DOCK1_HUMAN	G	354	ENSP00000280333:V354G	ENSP00000280333:V354G	V	+	2	0	DOCK1	128700551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.789000	0.85783	1.918000	0.55548	0.533000	0.62120	GTG	DOCK1	-	NULL	ENSG00000150760		0.522	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	131	0.00	0	T	NM_001380		128810561	128810561	+1	no_errors	ENST00000280333	ensembl	human	known	69_37n	missense	111	18.98	26	SNP	1.000	G
DOK4	55715	genome.wustl.edu	37	16	57507498	57507498	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:57507498T>G	ENST00000340099.4	-	8	1234				DOK4_ENST00000566936.1_Missense_Mutation_p.T297P|DOK4_ENST00000569548.1_Intron|DOK4_ENST00000561918.1_5'Flank	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4						MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						TCCTGGCAGGTGGGTGTGGGG	0.597																																						dbGAP											0													99.0	96.0	97.0					16																	57507498		2198	4300	6498	-	-	-	SO:0001627	intron_variant	0			BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.862+26A>C	16.37:g.57507498T>G			O75209|Q9BTP2|Q9NVV3	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.T297P	ENST00000340099.4	37	c.889	CCDS10783.1	16																																																																																			DOK4	-	NULL	ENSG00000125170		0.597	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK4	HGNC	protein_coding	OTTHUMT00000257335.3	145	0.66	1	T			57507498	57507498	-1	no_errors	ENST00000566936	ensembl	human	putative	69_37n	missense	93	16.07	18	SNP	0.000	G
DPCD	25911	genome.wustl.edu	37	10	103368704	103368704	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:103368704A>C	ENST00000370151.4	+	5	556				DPCD_ENST00000370147.1_Intron|FBXW4_ENST00000470093.1_5'Flank	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)						determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						TGTAAGATTCACCCAGACTTC	0.527																																						dbGAP											0													145.0	133.0	137.0					10																	103368704		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.507+10A>C	10.37:g.103368704A>C			A8K289|Q6QNL3|Q8N5R1|Q9UFY6	RNA	SNP	-	NULL	ENST00000370151.4	37	NULL	CCDS7514.1	10																																																																																			DPCD	-	-	ENSG00000166171		0.527	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPCD	HGNC	protein_coding	OTTHUMT00000049958.2	99	0.00	0	A			103368704	103368704	+1	no_errors	ENST00000475443	ensembl	human	known	69_37n	rna	98	14.04	16	SNP	0.000	C
DPCR1	135656	genome.wustl.edu	37	6	30917697	30917697	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:30917697A>C	ENST00000462446.1	+	2	1484	c.1456A>C	c.(1456-1458)Aca>Cca	p.T486P	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	236						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TAGAGAAACAACAGCCAATGA	0.502																																						dbGAP											0													125.0	178.0	162.0					6																	30917697		692	1591	2283	-	-	-	SO:0001583	missense	0			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1456A>C	6.37:g.30917697A>C	ENSP00000417182:p.Thr486Pro		C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.T486P	ENST00000462446.1	37	c.1456	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	3.141	-0.176328	0.06380	.	.	ENSG00000168631	ENST00000462446	T	0.48201	0.82	0.637	0.637	0.17735	.	.	.	.	.	T	0.32882	0.0844	L	0.40543	1.245	0.22693	N	0.998848	D	0.69078	0.997	D	0.68483	0.958	T	0.11299	-1.0593	9	0.19590	T	0.45	.	5.821	0.18528	0.9999:0.0:1.0E-4:0.0	.	486	E9PEI6	.	P	486	ENSP00000417182:T486P	ENSP00000417182:T486P	T	+	1	0	DPCR1	31025676	0.000000	0.05858	0.005000	0.12908	0.174000	0.22865	-0.855000	0.04295	0.598000	0.29829	0.296000	0.19595	ACA	DPCR1	-	NULL	ENSG00000168631		0.502	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	394	1.00	4	A	NM_080870		30917697	30917697	+1	no_errors	ENST00000462446	ensembl	human	novel	69_37n	missense	286	21.64	79	SNP	0.030	C
DPM2	8818	genome.wustl.edu	37	9	130698723	130698723	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:130698723T>G	ENST00000314392.8	-	3	860				RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA|DPM2_ENST00000373110.4_Missense_Mutation_p.H102P|RP11-203J24.8_ENST00000591408.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471)	dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234)			lung(1)	1						accccacgggtgagttcgggg	0.582																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB013361	CCDS6886.1	9q34.13	2013-02-26			ENSG00000136908	ENSG00000136908			3006	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	603564				9724629	Standard	NM_003863		Approved	MGC21559, MGC111193	uc004bsv.2	O94777	OTTHUMG00000020725	ENST00000314392.8:c.196+108A>C	9.37:g.130698723T>G			Q5XKK9|Q6FGH3	Missense_Mutation	SNP	pfam_DPM2	p.H102P	ENST00000314392.8	37	c.305	CCDS6886.1	9	.	.	.	.	.	.	.	.	.	.	T	9.849	1.193094	0.21954	.	.	ENSG00000136908	ENST00000373110	T	0.79940	-1.32	3.5	-2.08	0.07254	.	.	.	.	.	T	0.74435	0.3716	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.66658	-0.5868	6	0.87932	D	0	0.7779	4.9757	0.14138	0.2342:0.0:0.1228:0.643	.	.	.	.	P	102	ENSP00000362202:H102P	ENSP00000362202:H102P	H	-	2	0	DPM2	129738544	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.192000	0.09587	-0.395000	0.07715	-0.527000	0.04329	CAC	DPM2	-	NULL	ENSG00000136908		0.582	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPM2	HGNC	protein_coding	OTTHUMT00000054324.1	51	0.00	0	T	NM_003863		130698723	130698723	-1	no_errors	ENST00000373110	ensembl	human	putative	69_37n	missense	18	21.74	5	SNP	0.000	G
DPT	1805	genome.wustl.edu	37	1	168683555	168683555	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:168683555A>C	ENST00000367817.3	-	2	424	c.335T>G	c.(334-336)gTg>gGg	p.V112G		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	112	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GAATCCTGCCACCAGCCCATT	0.542																																						dbGAP											0													90.0	80.0	83.0					1																	168683555		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.335T>G	1.37:g.168683555A>C	ENSP00000356791:p.Val112Gly		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	NULL	p.V112G	ENST00000367817.3	37	c.335	CCDS1275.1	1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.875095	0.91664	.	.	ENSG00000143196	ENST00000367817	T	0.55234	0.53	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.63628	0.2527	M	0.61703	1.905	0.52099	D	0.999947	D	0.76494	0.999	D	0.80764	0.994	T	0.69394	-0.5157	9	0.87932	D	0	-12.7565	15.2639	0.73646	1.0:0.0:0.0:0.0	.	112	Q07507	DERM_HUMAN	G	112	ENSP00000356791:V112G	ENSP00000356791:V112G	V	-	2	0	DPT	166950179	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.534000	0.73833	2.244000	0.73946	0.533000	0.62120	GTG	DPT	-	NULL	ENSG00000143196		0.542	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPT	HGNC	protein_coding	OTTHUMT00000083618.1	95	0.00	0	A	NM_001937		168683555	168683555	-1	no_errors	ENST00000367817	ensembl	human	known	69_37n	missense	125	11.97	17	SNP	1.000	C
DRAP1	10589	genome.wustl.edu	37	11	65688408	65688408	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:65688408A>C	ENST00000312515.2	+	6	722	c.477A>C	c.(475-477)ccA>ccC	p.P159P	C11orf68_ENST00000449692.3_5'Flank|DRAP1_ENST00000532933.1_Silent_p.P139P|C11orf68_ENST00000438576.2_5'Flank|DRAP1_ENST00000527119.1_Silent_p.P115P|DRAP1_ENST00000376991.2_Silent_p.P166P|C11orf68_ENST00000530188.1_5'Flank	NM_006442.3	NP_006433.2	Q14919	NC2A_HUMAN	DR1-associated protein 1 (negative cofactor 2 alpha)	159	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	5				READ - Rectum adenocarcinoma(159;0.166)		CACAACCCCCACCCCAGGCCA	0.577																																						dbGAP											0													80.0	75.0	77.0					11																	65688408		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			U41843	CCDS8123.1	11q13	2010-09-29			ENSG00000175550	ENSG00000175550			3019	protein-coding gene	gene with protein product	"""negative cofactor 2 alpha"", ""DR1-associated corepressor"""	602289				8608938	Standard	NM_006442		Approved	NC2-alpha	uc001ogj.2	Q14919	OTTHUMG00000166723	ENST00000312515.2:c.477A>C	11.37:g.65688408A>C			Q13448	Silent	SNP	pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold	p.P159	ENST00000312515.2	37	c.477	CCDS8123.1	11																																																																																			DRAP1	-	NULL	ENSG00000175550		0.577	DRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRAP1	HGNC	protein_coding	OTTHUMT00000391197.2	126	0.78	1	A	NM_006442		65688408	65688408	+1	no_errors	ENST00000312515	ensembl	human	known	69_37n	silent	106	18.18	24	SNP	0.968	C
DSCAM	1826	genome.wustl.edu	37	21	41465716	41465716	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:41465716A>C	ENST00000400454.1	-	21	4259	c.3782T>G	c.(3781-3783)gTg>gGg	p.V1261G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1261	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AACAGCCACCACCCAGACGCT	0.502																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													72.0	69.0	70.0					21																	41465716		1973	4170	6143	-	-	-	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3782T>G	21.37:g.41465716A>C	ENSP00000383303:p.Val1261Gly		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V1261G	ENST00000400454.1	37	c.3782	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	A	22.8	4.336738	0.81801	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.74315	-0.83;-0.83	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90082	0.6902	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93043	0.6459	10	0.87932	D	0	.	15.0665	0.71999	1.0:0.0:0.0:0.0	.	1261	O60469	DSCAM_HUMAN	G	1261;1013	ENSP00000383303:V1261G;ENSP00000385342:V1013G	ENSP00000383303:V1261G	V	-	2	0	DSCAM	40387586	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.401000	0.79962	1.956000	0.56807	0.383000	0.25322	GTG	DSCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000171587		0.502	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	130	0.00	0	A	NM_001389		41465716	41465716	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	missense	79	21.78	22	SNP	1.000	C
DSCAML1	57453	genome.wustl.edu	37	11	117403166	117403166	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:117403166T>G	ENST00000321322.6	-	4	764	c.763A>C	c.(763-765)Acc>Ccc	p.T255P	DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	195	Ig-like C2-type 3.				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)		CAGCGATAGGTGGAGAGGGCG	0.557																																						dbGAP											0													125.0	104.0	111.0					11																	117403166		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.763A>C	11.37:g.117403166T>G	ENSP00000315465:p.Thr255Pro		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T255P	ENST00000321322.6	37	c.763	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	T	26.3	4.728627	0.89390	.	.	ENSG00000177103	ENST00000321322	T	0.78595	-1.19	4.97	4.97	0.65823	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85474	0.5705	M	0.67397	2.05	0.80722	D	1	D	0.65815	0.995	D	0.64506	0.926	D	0.86216	0.1628	9	0.51188	T	0.08	.	15.1227	0.72457	0.0:0.0:0.0:1.0	.	195	Q8TD84	DSCL1_HUMAN	P	255	ENSP00000315465:T255P	ENSP00000315465:T255P	T	-	1	0	DSCAML1	116908376	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.777000	0.85628	2.209000	0.71365	0.533000	0.62120	ACC	DSCAML1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000177103		0.557	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	122	0.79	1	T	NM_020693		117403166	117403166	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	missense	56	25.33	19	SNP	1.000	G
DUOX1	53905	genome.wustl.edu	37	15	45448102	45448102	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:45448102A>C	ENST00000321429.4	+	29	4084	c.3677A>C	c.(3676-3678)cAc>cCc	p.H1226P	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.H1226P|DUOX1_ENST00000561166.1_Missense_Mutation_p.H872P	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1226	Ferric oxidoreductase.|Interaction with TXNDC11. {ECO:0000250}.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CTGACCCACCACCTCTACATC	0.607																																						dbGAP											0													95.0	88.0	91.0					15																	45448102		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.3677A>C	15.37:g.45448102A>C	ENSP00000317997:p.His1226Pro		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.H1226P	ENST00000321429.4	37	c.3677	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	A	17.90	3.502085	0.64298	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.91464	-2.85;-2.85	4.11	4.11	0.48088	Flavoprotein transmembrane component (1);	0.216418	0.47455	D	0.000237	D	0.96207	0.8763	H	0.96015	3.755	0.58432	D	0.999996	D	0.57257	0.979	D	0.65573	0.936	D	0.96649	0.9480	10	0.66056	D	0.02	-35.0919	11.3742	0.49717	1.0:0.0:0.0:0.0	.	1226	Q9NRD9	DUOX1_HUMAN	P	1226	ENSP00000317997:H1226P;ENSP00000373689:H1226P	ENSP00000317997:H1226P	H	+	2	0	DUOX1	43235394	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.983000	0.70540	1.837000	0.53436	0.460000	0.39030	CAC	DUOX1	-	pfam_Fe3_Rdtase_TM_dom	ENSG00000137857		0.607	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	217	0.46	1	A	NM_017434		45448102	45448102	+1	no_errors	ENST00000321429	ensembl	human	known	69_37n	missense	189	14.35	32	SNP	1.000	C
DUOX1	53905	genome.wustl.edu	37	15	45454504	45454504	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:45454504A>C	ENST00000321429.4	+	32	4584	c.4177A>C	c.(4177-4179)Acc>Ccc	p.T1393P	CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000389037.3_Missense_Mutation_p.T1393P|DUOX1_ENST00000561166.1_Missense_Mutation_p.T1039P	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1393					cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CATTGGGGTCACCCCTTTTGC	0.552																																						dbGAP											0													149.0	130.0	136.0					15																	45454504		2198	4298	6496	-	-	-	SO:0001583	missense	0			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.4177A>C	15.37:g.45454504A>C	ENSP00000317997:p.Thr1393Pro		A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.T1393P	ENST00000321429.4	37	c.4177	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	A	22.1	4.243075	0.79912	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.73152	-0.72;-0.72	4.23	4.23	0.50019	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.88654	0.6495	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91517	0.5231	10	0.87932	D	0	-31.8963	11.5699	0.50829	1.0:0.0:0.0:0.0	.	1393	Q9NRD9	DUOX1_HUMAN	P	1393	ENSP00000317997:T1393P;ENSP00000373689:T1393P	ENSP00000317997:T1393P	T	+	1	0	DUOX1	43241796	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.076000	0.94009	1.903000	0.55091	0.459000	0.35465	ACC	DUOX1	-	pfam_Fe_red_NAD-bd_6	ENSG00000137857		0.552	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	151	0.00	0	A	NM_017434		45454504	45454504	+1	no_errors	ENST00000321429	ensembl	human	known	69_37n	missense	155	15.14	28	SNP	1.000	C
DUSP10	11221	genome.wustl.edu	37	1	221879733	221879733	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:221879733A>C	ENST00000366899.3	-	3	1125	c.887T>G	c.(886-888)gTg>gGg	p.V296G	DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	296					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GCCGCCCCCCACCTCCCGGCA	0.582																																						dbGAP											0													50.0	60.0	56.0					1																	221879733		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.887T>G	1.37:g.221879733A>C	ENSP00000355866:p.Val296Gly		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.V296G	ENST00000366899.3	37	c.887	CCDS1528.1	1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.615342	0.28801	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.02421	4.3	5.44	-2.49	0.06403	.	0.571575	0.18514	N	0.138974	T	0.01029	0.0034	N	0.01874	-0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53830	-0.8383	10	0.22109	T	0.4	.	7.0141	0.24879	0.3237:0.2478:0.4285:0.0	.	296	Q9Y6W6	DUS10_HUMAN	G	296;241	ENSP00000355866:V296G	ENSP00000355866:V296G	V	-	2	0	DUSP10	219946356	0.483000	0.25956	0.996000	0.52242	0.997000	0.91878	0.000000	0.12993	-0.161000	0.10983	0.482000	0.46254	GTG	DUSP10	-	NULL	ENSG00000143507		0.582	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	67	0.00	0	A	NM_007207		221879733	221879733	-1	no_errors	ENST00000366899	ensembl	human	known	69_37n	missense	88	18.18	20	SNP	0.998	C
DUSP27	92235	genome.wustl.edu	37	1	167086637	167086637	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:167086637T>G	ENST00000361200.2	+	4	444	c.278T>G	c.(277-279)gTg>gGg	p.V93G	DUSP27_ENST00000443333.1_Missense_Mutation_p.V93G|DUSP27_ENST00000271385.5_Missense_Mutation_p.V93G			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	93					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAGCTGCTGGTGGAGGACCTG	0.582																																						dbGAP											0													75.0	57.0	63.0					1																	167086637		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.278T>G	1.37:g.167086637T>G	ENSP00000354483:p.Val93Gly		A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.V93G	ENST00000361200.2	37	c.278	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.627810	0.87560	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.04317	3.65;3.65;3.65	5.1	5.1	0.69264	.	0.072595	0.56097	D	0.000038	T	0.04998	0.0134	L	0.34521	1.04	0.80722	D	1	D	0.60160	0.987	P	0.53450	0.726	T	0.41360	-0.9513	10	0.59425	D	0.04	-24.8346	14.8816	0.70537	0.0:0.0:0.0:1.0	.	93	Q5VZP5	DUS27_HUMAN	G	93	ENSP00000354483:V93G;ENSP00000271385:V93G;ENSP00000404874:V93G	ENSP00000271385:V93G	V	+	2	0	DUSP27	165353261	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.694000	0.84235	1.908000	0.55244	0.459000	0.35465	GTG	DUSP27	-	NULL	ENSG00000198842		0.582	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	115	0.00	0	T	NM_001080426		167086637	167086637	+1	no_errors	ENST00000271385	ensembl	human	known	69_37n	missense	141	21.23	38	SNP	1.000	G
DUSP27	92235	genome.wustl.edu	37	1	167096167	167096167	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:167096167T>G	ENST00000361200.2	+	6	1965	c.1799T>G	c.(1798-1800)gTg>gGg	p.V600G	DUSP27_ENST00000443333.1_Missense_Mutation_p.V600G|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.V600G			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	600					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAGAAGAAGGTGGGCAGTGAG	0.612																																						dbGAP											0													46.0	45.0	46.0					1																	167096167		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1799T>G	1.37:g.167096167T>G	ENSP00000354483:p.Val600Gly		A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.V600G	ENST00000361200.2	37	c.1799	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075678	0.55646	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03772	3.81;3.81;3.81	5.22	5.22	0.72569	.	0.649458	0.13396	N	0.391006	T	0.05135	0.0137	L	0.60455	1.87	0.54753	D	0.999982	P	0.47409	0.895	B	0.44315	0.446	T	0.24621	-1.0155	10	0.87932	D	0	-12.4264	15.1087	0.72338	0.0:0.0:0.0:1.0	.	600	Q5VZP5	DUS27_HUMAN	G	600	ENSP00000354483:V600G;ENSP00000271385:V600G;ENSP00000404874:V600G	ENSP00000271385:V600G	V	+	2	0	DUSP27	165362791	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.960000	0.49161	1.961000	0.56991	0.523000	0.50628	GTG	DUSP27	-	NULL	ENSG00000198842		0.612	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	121	0.81	1	T	NM_001080426		167096167	167096167	+1	no_errors	ENST00000271385	ensembl	human	known	69_37n	missense	98	19.67	24	SNP	1.000	G
DUSP10	11221	genome.wustl.edu	37	1	221912962	221912962	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:221912962T>G	ENST00000366899.3	-	2	363	c.125A>C	c.(124-126)cAc>cCc	p.H42P	DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	42					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GACAGGAGGGTGGCTGTTACT	0.562																																						dbGAP											0													119.0	114.0	116.0					1																	221912962		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.125A>C	1.37:g.221912962T>G	ENSP00000355866:p.His42Pro		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.H42P	ENST00000366899.3	37	c.125	CCDS1528.1	1	.	.	.	.	.	.	.	.	.	.	T	11.90	1.776808	0.31411	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.02421	4.3	5.52	1.93	0.25924	.	0.694873	0.14986	N	0.286950	T	0.01870	0.0059	N	0.14661	0.345	0.80722	D	1	B	0.26975	0.165	B	0.17433	0.018	T	0.56715	-0.7933	10	0.46703	T	0.11	.	6.3769	0.21513	0.0:0.1997:0.1219:0.6784	.	42	Q9Y6W6	DUS10_HUMAN	P	42	ENSP00000355866:H42P	ENSP00000355866:H42P	H	-	2	0	DUSP10	219979585	0.165000	0.22948	0.554000	0.28268	0.989000	0.77384	0.485000	0.22324	0.080000	0.16959	0.482000	0.46254	CAC	DUSP10	-	NULL	ENSG00000143507		0.562	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1	123	0.80	1	T	NM_007207		221912962	221912962	-1	no_errors	ENST00000366899	ensembl	human	known	69_37n	missense	96	19.83	24	SNP	0.934	G
DYNC1H1	1778	genome.wustl.edu	37	14	102476251	102476251	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:102476251A>C	ENST00000360184.4	+	30	6213	c.6049A>C	c.(6049-6051)Acc>Ccc	p.T2017P		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2017	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CATCTTCATCACCATGAACCC	0.537																																						dbGAP											0													64.0	61.0	62.0					14																	102476251		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6049A>C	14.37:g.102476251A>C	ENSP00000348965:p.Thr2017Pro		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.T2017P	ENST00000360184.4	37	c.6049	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	A	28.3	4.912415	0.92178	.	.	ENSG00000197102	ENST00000360184	T	0.53206	0.63	5.33	5.33	0.75918	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.82549	0.5061	H	0.99590	4.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90421	0.4417	10	0.87932	D	0	.	15.5894	0.76512	1.0:0.0:0.0:0.0	.	2017	Q14204	DYHC1_HUMAN	P	2017	ENSP00000348965:T2017P	ENSP00000348965:T2017P	T	+	1	0	DYNC1H1	101546004	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.225000	0.95219	2.136000	0.66102	0.533000	0.62120	ACC	DYNC1H1	-	smart_AAA+_ATPase	ENSG00000197102		0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	93	0.00	0	A	NM_001376		102476251	102476251	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	54	16.42	11	SNP	1.000	C
DYNC1H1	1778	genome.wustl.edu	37	14	102483426	102483426	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:102483426T>G	ENST00000360184.4	+	39	8014	c.7850T>G	c.(7849-7851)gTg>gGg	p.V2617G		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2617	AAA 3. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCTCCAAAGGTGGTGGGTCTC	0.522																																						dbGAP											0													119.0	107.0	111.0					14																	102483426		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7849-1T>G	14.37:g.102483426T>G			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.V2617G	ENST00000360184.4	37	c.7850	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196684	0.79015	.	.	ENSG00000197102	ENST00000360184	T	0.25250	1.81	4.92	4.92	0.64577	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.62575	0.2439	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72912	-0.4148	10	0.42905	T	0.14	.	14.8564	0.70341	0.0:0.0:0.0:1.0	.	2617	Q14204	DYHC1_HUMAN	G	2617	ENSP00000348965:V2617G	ENSP00000348965:V2617G	V	+	2	0	DYNC1H1	101553179	1.000000	0.71417	0.935000	0.37517	0.906000	0.53458	7.857000	0.86963	1.991000	0.58162	0.459000	0.35465	GTG	DYNC1H1	-	smart_AAA+_ATPase	ENSG00000197102		0.522	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	178	0.55	1	T	NM_001376	Missense_Mutation	102483426	102483426	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	117	18.75	27	SNP	1.000	G
DYSF	8291	genome.wustl.edu	37	2	71708016	71708016	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:71708016T>G	ENST00000258104.3	+	2	369	c.92T>G	c.(91-93)gTg>gGg	p.V31G	DYSF_ENST00000409651.1_Missense_Mutation_p.V32G|DYSF_ENST00000413539.2_Missense_Mutation_p.V31G|DYSF_ENST00000409366.1_Missense_Mutation_p.V32G|DYSF_ENST00000409762.1_Missense_Mutation_p.V31G|DYSF_ENST00000429174.2_Missense_Mutation_p.V31G|DYSF_ENST00000394120.2_Missense_Mutation_p.V32G|DYSF_ENST00000410020.3_Missense_Mutation_p.V32G|DYSF_ENST00000409582.3_Missense_Mutation_p.V31G|DYSF_ENST00000410041.1_Missense_Mutation_p.V32G|DYSF_ENST00000409744.1_Missense_Mutation_p.V32G	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	31	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				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						CTTGTAGGGGTGAAGAAGAGA	0.483																																						dbGAP											0													242.0	187.0	205.0					2																	71708016		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.92T>G	2.37:g.71708016T>G	ENSP00000258104:p.Val31Gly		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.V31G	ENST00000258104.3	37	c.92	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	T	13.31	2.199599	0.38806	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	4.43	4.43	0.53597	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.552015	0.18101	N	0.151683	T	0.54013	0.1832	N	0.25647	0.755	0.58432	D	0.999991	B;B;B;B;B;B;B;B;B;B;P;B;B;B	0.46952	0.234;0.234;0.141;0.141;0.053;0.053;0.053;0.061;0.234;0.053;0.887;0.141;0.141;0.17	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.43082	0.272;0.272;0.272;0.182;0.06;0.096;0.096;0.139;0.272;0.096;0.407;0.272;0.272;0.392	T	0.50004	-0.8878	10	0.25751	T	0.34	-12.029	11.9148	0.52759	0.0:0.0:0.0:1.0	.	32;32;32;32;32;32;31;31;31;31;31;31;32;31	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	G	31;31;31;31;31;32;32;32;32;32;32	ENSP00000407046:V31G;ENSP00000387137:V31G;ENSP00000386547:V31G;ENSP00000398305:V31G;ENSP00000258104:V31G;ENSP00000386683:V32G;ENSP00000377678:V32G;ENSP00000386285:V32G;ENSP00000386512:V32G;ENSP00000386881:V32G;ENSP00000386617:V32G	ENSP00000258104:V31G	V	+	2	0	DYSF	71561524	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.450000	0.60041	1.771000	0.52183	0.454000	0.30748	GTG	DYSF	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000135636		0.483	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	352	0.28	1	T	NM_003494		71708016	71708016	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	missense	220	10.16	25	SNP	1.000	G
DYSF	8291	genome.wustl.edu	37	2	71909736	71909736	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:71909736T>G	ENST00000258104.3	+	54	6410	c.6133T>G	c.(6133-6135)Tgg>Ggg	p.W2045G	DYSF_ENST00000409651.1_Missense_Mutation_p.W2077G|DYSF_ENST00000413539.2_Missense_Mutation_p.W2076G|DYSF_ENST00000409366.1_Missense_Mutation_p.W2067G|DYSF_ENST00000409762.1_Missense_Mutation_p.W2062G|DYSF_ENST00000429174.2_Missense_Mutation_p.W2066G|DYSF_ENST00000394120.2_Missense_Mutation_p.W2046G|DYSF_ENST00000410020.3_Missense_Mutation_p.W2084G|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Missense_Mutation_p.W2083G|DYSF_ENST00000410041.1_Missense_Mutation_p.W2063G|DYSF_ENST00000409744.1_Missense_Mutation_p.W2053G	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	2045					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						GCGTTTCCGGTGGGCcatcat	0.587																																						dbGAP											0													178.0	124.0	142.0					2																	71909736		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.6133T>G	2.37:g.71909736T>G	ENSP00000258104:p.Trp2045Gly		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.W2076G	ENST00000258104.3	37	c.6226	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471577	0.63737	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	D;D;D;D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.84;-1.84;-1.85;-1.85;-1.85;-1.84;-1.84;-1.84;-1.85	5.1	5.1	0.69264	.	0.244896	0.51477	D	0.000085	D	0.90170	0.6928	M	0.73372	2.23	0.52501	D	0.999953	B;B;B;B;B;P;P;P;B;B;B;B;B;B;B	0.35774	0.259;0.144;0.144;0.144;0.083;0.519;0.519;0.519;0.221;0.144;0.377;0.07;0.083;0.144;0.05	B;B;B;B;B;P;P;P;P;B;P;B;B;B;B	0.53185	0.429;0.301;0.301;0.301;0.301;0.72;0.72;0.72;0.498;0.301;0.579;0.158;0.301;0.301;0.158	D	0.90399	0.4401	10	0.56958	D	0.05	-3.9275	13.1302	0.59377	0.0:0.0:0.0:1.0	.	809;2077;2084;2067;2032;2063;2053;2062;2052;2076;2083;2066;2031;2046;2045	B7Z8G4;O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	G	2076;2062;2083;2066;2045;2077;2046;2053;2067;2084;2063	ENSP00000407046:W2076G;ENSP00000387137:W2062G;ENSP00000386547:W2083G;ENSP00000398305:W2066G;ENSP00000258104:W2045G;ENSP00000386683:W2077G;ENSP00000377678:W2046G;ENSP00000386285:W2053G;ENSP00000386512:W2067G;ENSP00000386881:W2084G;ENSP00000386617:W2063G	ENSP00000258104:W2045G	W	+	1	0	DYSF	71763244	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.197000	0.72100	2.034000	0.60081	0.533000	0.62120	TGG	DYSF	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000135636		0.587	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	178	0.55	1	T	NM_003494		71909736	71909736	+1	no_errors	ENST00000413539	ensembl	human	known	69_37n	missense	230	11.54	30	SNP	1.000	G
E4F1	1877	genome.wustl.edu	37	16	2282221	2282221	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:2282221A>G	ENST00000301727.4	+	4	513	c.465A>G	c.(463-465)ggA>ggG	p.G155G	E4F1_ENST00000565090.1_Silent_p.G155G|E4F1_ENST00000564139.1_Silent_p.G155G	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	155					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|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 coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						CGGAGCTGGGAGACGGTGAGA	0.672																																						dbGAP											0													54.0	65.0	61.0					16																	2282221		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.465A>G	16.37:g.2282221A>G			A8K2R4|O00146	Missense_Mutation	SNP	NULL	p.R182G	ENST00000301727.4	37	c.544	CCDS32370.1	16																																																																																			E4F1	-	NULL	ENSG00000167967		0.672	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E4F1	HGNC	protein_coding	OTTHUMT00000435225.1	48	0.00	0	A	NM_004424		2282221	2282221	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000562589	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	0.141	G
EARS2	124454	genome.wustl.edu	37	16	23541168	23541168	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:23541168A>C	ENST00000563459.1	-	6	1124	c.1118T>G	c.(1117-1119)gTg>gGg	p.V373G	EARS2_ENST00000449606.1_Missense_Mutation_p.V373G|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.V373G|EARS2_ENST00000563232.1_Missense_Mutation_p.V373G			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	373					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CAGCTTCCCCACCAGCTGGCG	0.607																																						dbGAP											0													73.0	77.0	76.0					16																	23541168		2036	4189	6225	-	-	-	SO:0001583	missense	0			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1118T>G	16.37:g.23541168A>C	ENSP00000456467:p.Val373Gly		B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Glu-tRNA-synth_Ib_bac/mito	p.V373G	ENST00000563459.1	37	c.1118	CCDS42132.1	16	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530064	0.64860	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.44083	0.93	5.38	5.38	0.77491	Aminoacyl-tRNA synthetase, class I, anticodon-binding (1);	0.118515	0.56097	D	0.000032	T	0.58836	0.2150	M	0.81497	2.545	0.80722	D	1	D;P	0.57899	0.981;0.935	P;P	0.53360	0.724;0.694	T	0.66460	-0.5918	10	0.87932	D	0	-5.8587	14.5623	0.68148	1.0:0.0:0.0:0.0	.	373;373	Q86YH3;Q5JPH6	.;SYEM_HUMAN	G	373	ENSP00000395196:V373G	ENSP00000343488:V373G	V	-	2	0	EARS2	23448669	0.998000	0.40836	0.996000	0.52242	0.281000	0.26958	5.727000	0.68523	2.050000	0.60909	0.482000	0.46254	GTG	EARS2	-	superfamily_aa-tRNA-synth_I_codon-bd,tigrfam_Glu-tRNA-synth_Ib_bac/mito	ENSG00000103356		0.607	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	EARS2	HGNC	protein_coding	OTTHUMT00000434844.1	60	0.00	0	A	NM_133451		23541168	23541168	-1	no_errors	ENST00000341597	ensembl	human	known	69_37n	missense	91	22.22	26	SNP	0.997	C
EARS2	124454	genome.wustl.edu	37	16	23541198	23541198	+	Missense_Mutation	SNP	A	A	C	rs200504812		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:23541198A>C	ENST00000563459.1	-	6	1094	c.1088T>G	c.(1087-1089)gTg>gGg	p.V363G	EARS2_ENST00000449606.1_Missense_Mutation_p.V363G|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.V363G|EARS2_ENST00000563232.1_Missense_Mutation_p.V363G			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	363					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CTCATTGCTCACCAGCCGCTG	0.607																																						dbGAP											0													55.0	57.0	57.0					16																	23541198		2005	4169	6174	-	-	-	SO:0001583	missense	0			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.1088T>G	16.37:g.23541198A>C	ENSP00000456467:p.Val363Gly		B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Glu-tRNA-synth_Ib_bac/mito	p.V363G	ENST00000563459.1	37	c.1088	CCDS42132.1	16	.	.	.	.	.	.	.	.	.	.	A	20.4	3.978255	0.74360	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.47869	0.83	5.38	5.38	0.77491	Aminoacyl-tRNA synthetase, class I, anticodon-binding (1);	0.279448	0.38548	N	0.001656	T	0.46908	0.1417	M	0.62723	1.935	0.80722	D	1	P;B	0.35656	0.514;0.271	B;B	0.37650	0.255;0.119	T	0.39057	-0.9632	10	0.17832	T	0.49	-6.2485	14.5623	0.68148	1.0:0.0:0.0:0.0	.	363;363	Q86YH3;Q5JPH6	.;SYEM_HUMAN	G	363	ENSP00000395196:V363G	ENSP00000343488:V363G	V	-	2	0	EARS2	23448699	1.000000	0.71417	0.972000	0.41901	0.941000	0.58515	7.448000	0.80631	2.050000	0.60909	0.482000	0.46254	GTG	EARS2	-	superfamily_aa-tRNA-synth_I_codon-bd,tigrfam_Glu-tRNA-synth_Ib_bac/mito	ENSG00000103356		0.607	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	EARS2	HGNC	protein_coding	OTTHUMT00000434844.1	50	0.00	0	A	NM_133451		23541198	23541198	-1	no_errors	ENST00000341597	ensembl	human	known	69_37n	missense	63	41.12	44	SNP	0.951	C
EBF1	1879	genome.wustl.edu	37	5	158139201	158139201	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:158139201T>G	ENST00000313708.6	-	14	1792	c.1510A>C	c.(1510-1512)Acc>Ccc	p.T504P	EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Missense_Mutation_p.T473P	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	504	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGAGGAAGGTGGGGGAGCCG	0.567			T	HMGA2	lipoma																																	dbGAP		Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													80.0	60.0	67.0					5																	158139201		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1510A>C	5.37:g.158139201T>G	ENSP00000322898:p.Thr504Pro		Q8IW11	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_HLH_DNA-bd,smart_IPT_TIG_rcpt	p.T504P	ENST00000313708.6	37	c.1510	CCDS4343.1	5	.	.	.	.	.	.	.	.	.	.	T	15.39	2.819159	0.50633	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654	T;T	0.44881	0.91;0.91	4.92	4.92	0.64577	.	0.054244	0.64402	D	0.000001	T	0.31857	0.0810	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.25743	0.133;0.052;0.021;0.0	B;B;B;B	0.24006	0.05;0.038;0.032;0.001	T	0.14839	-1.0458	10	0.59425	D	0.04	-8.129	14.8736	0.70478	0.0:0.0:0.0:1.0	.	504;491;504;473	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	P	504;504;473	ENSP00000322898:T504P;ENSP00000370029:T473P	ENSP00000322898:T504P	T	-	1	0	EBF1	158071779	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	6.242000	0.72376	1.967000	0.57214	0.528000	0.53228	ACC	EBF1	-	NULL	ENSG00000164330		0.567	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	94	0.00	0	T	NM_024007		158139201	158139201	-1	no_errors	ENST00000313708	ensembl	human	known	69_37n	missense	68	25.27	23	SNP	1.000	G
ECE1	1889	genome.wustl.edu	37	1	21563237	21563237	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:21563237A>C	ENST00000374893.6	-	12	1563		c.e12+1		ECE1_ENST00000357071.4_Splice_Site|ECE1_ENST00000264205.6_Splice_Site|ECE1_ENST00000436918.2_Splice_Site|ECE1_ENST00000528294.1_5'Flank|ECE1_ENST00000415912.2_Splice_Site	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1						bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGCCAGCCTCACCTTTTCCTT	0.542																																						dbGAP											0													185.0	179.0	181.0					1																	21563237		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1488+1T>G	1.37:g.21563237A>C			A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Splice_Site	SNP	-	e12+2	ENST00000374893.6	37	c.1488+2	CCDS215.1	1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407567	0.42715	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	.	.	.	5.22	2.83	0.33086	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0347	0.36280	0.8436:0.0:0.1564:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ECE1	21435824	1.000000	0.71417	1.000000	0.80357	0.590000	0.36582	3.125000	0.50469	0.364000	0.24374	0.459000	0.35465	.	ECE1	-	-	ENSG00000117298		0.542	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	HGNC	protein_coding	OTTHUMT00000007470.2	143	0.00	0	A	NM_001397	Intron	21563237	21563237	-1	no_errors	ENST00000374893	ensembl	human	known	69_37n	splice_site	208	10.68	25	SNP	1.000	C
ECE1	1889	genome.wustl.edu	37	1	21573724	21573724	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:21573724T>G	ENST00000374893.6	-	9	1227	c.1153A>C	c.(1153-1155)Acc>Ccc	p.T385P	ECE1_ENST00000357071.4_Missense_Mutation_p.T373P|ECE1_ENST00000264205.6_Missense_Mutation_p.T382P|ECE1_ENST00000436918.2_Missense_Mutation_p.T385P|ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000415912.2_Missense_Mutation_p.T369P	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	385					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CATCTGTCGGTGGTGTTGATG	0.552																																						dbGAP											0													163.0	131.0	141.0					1																	21573724		2203	4300	6503	-	-	-	SO:0001583	missense	0			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1153A>C	1.37:g.21573724T>G	ENSP00000364028:p.Thr385Pro		A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.T385P	ENST00000374893.6	37	c.1153	CCDS215.1	1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937945	0.73557	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2	5.48	5.48	0.80851	Peptidase M13 (1);	0.048625	0.85682	D	0.000000	D	0.89729	0.6799	M	0.89904	3.07	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.996;0.999;0.999	D;D;D;D;D	0.79784	0.986;0.993;0.987;0.989;0.989	D	0.91706	0.5377	10	0.72032	D	0.01	-15.541	14.4117	0.67119	0.0:0.0:0.0:1.0	.	385;369;385;373;382	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	P	369;373;385;385;382	ENSP00000405088:T369P;ENSP00000349581:T373P;ENSP00000364028:T385P;ENSP00000388439:T385P;ENSP00000264205:T382P	ENSP00000264205:T382P	T	-	1	0	ECE1	21446311	1.000000	0.71417	0.307000	0.25127	0.727000	0.41649	7.471000	0.80985	2.071000	0.62044	0.454000	0.30748	ACC	ECE1	-	pfam_Peptidase_M13_N	ENSG00000117298		0.552	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	HGNC	protein_coding	OTTHUMT00000007470.2	152	0.00	0	T	NM_001397		21573724	21573724	-1	no_errors	ENST00000374893	ensembl	human	known	69_37n	missense	141	11.73	19	SNP	0.993	G
EDC4	23644	genome.wustl.edu	37	16	67912515	67912515	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:67912515A>C	ENST00000358933.5	+	10	1404	c.1165A>C	c.(1165-1167)Acc>Ccc	p.T389P	EDC4_ENST00000574770.1_3'UTR|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	389					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		AGTATCCTGGACCTGCCTGCA	0.542																																						dbGAP											0													107.0	105.0	106.0					16																	67912515		2198	4300	6498	-	-	-	SO:0001583	missense	0			U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1165A>C	16.37:g.67912515A>C	ENSP00000351811:p.Thr389Pro		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T389P	ENST00000358933.5	37	c.1165	CCDS10849.1	16	.	.	.	.	.	.	.	.	.	.	A	17.39	3.376646	0.61735	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	T	0.07021	3.23	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.057128	0.64402	D	0.000002	T	0.21962	0.0529	L	0.50333	1.59	0.80722	D	1	D;D;D	0.76494	0.989;0.997;0.999	P;P;D	0.66716	0.648;0.772;0.946	T	0.00607	-1.1647	10	0.34782	T	0.22	-25.0713	15.336	0.74255	1.0:0.0:0.0:0.0	.	321;8;389	B7Z7V8;Q6P2E9-2;Q6P2E9	.;.;EDC4_HUMAN	P	389;321	ENSP00000351811:T389P	ENSP00000351811:T389P	T	+	1	0	EDC4	66470016	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	9.267000	0.95665	2.109000	0.64355	0.459000	0.35465	ACC	EDC4	-	superfamily_WD40_repeat_dom	ENSG00000038358		0.542	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC4	HGNC	protein_coding	OTTHUMT00000268874.2	148	0.00	0	A	NM_014329		67912515	67912515	+1	no_errors	ENST00000358933	ensembl	human	known	69_37n	missense	90	14.29	15	SNP	1.000	C
EEPD1	80820	genome.wustl.edu	37	7	36327282	36327282	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:36327282A>C	ENST00000242108.4	+	6	1929	c.1211A>C	c.(1210-1212)cAc>cCc	p.H404P	EEPD1_ENST00000534978.1_Missense_Mutation_p.H404P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	404					DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						GTTAACCTTCACCTGGCAGCC	0.547																																						dbGAP											0													132.0	113.0	119.0					7																	36327282		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1211A>C	7.37:g.36327282A>C	ENSP00000242108:p.His404Pro		Q96K64|Q9C0F7	Missense_Mutation	SNP	pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH	p.H404P	ENST00000242108.4	37	c.1211	CCDS34619.1	7	.	.	.	.	.	.	.	.	.	.	A	18.04	3.534255	0.64972	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.99051	-5.37;-5.37	4.79	2.36	0.29203	Endonuclease/exonuclease/phosphatase (2);	0.231400	0.43919	D	0.000515	D	0.97617	0.9219	L	0.56769	1.78	0.43390	D	0.995508	P	0.42203	0.773	P	0.44623	0.455	D	0.95512	0.8587	10	0.32370	T	0.25	-17.3654	9.6436	0.39855	0.8474:0.0:0.1526:0.0	.	404	Q7L9B9	EEPD1_HUMAN	P	404	ENSP00000242108:H404P;ENSP00000442692:H404P	ENSP00000242108:H404P	H	+	2	0	EEPD1	36293807	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	4.564000	0.60830	0.801000	0.34066	0.379000	0.24179	CAC	EEPD1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000122547		0.547	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	HGNC	protein_coding	OTTHUMT00000337602.1	105	0.93	1	A	NM_030636		36327282	36327282	+1	no_errors	ENST00000242108	ensembl	human	known	69_37n	missense	95	18.10	21	SNP	1.000	C
EFCAB6	64800	genome.wustl.edu	37	22	43924730	43924730	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:43924730T>G	ENST00000262726.7	-	0	4762				EFCAB6_ENST00000461800.1_5'UTR|EFCAB6_ENST00000396231.2_3'UTR|EFCAB6-AS1_ENST00000431327.3_RNA	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ACAGCAGGGGTGTCTACTGGA	0.448																																						dbGAP											0													108.0	116.0	114.0					22																	43924730		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.*3A>C	22.37:g.43924730T>G			A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	RNA	SNP	-	NULL	ENST00000262726.7	37	NULL	CCDS14049.1	22																																																																																			EFCAB6	-	-	ENSG00000186976		0.448	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	245	0.40	1	T	NM_022785		43924730	43924730	-1	no_errors	ENST00000461800	ensembl	human	known	69_37n	rna	119	21.43	33	SNP	0.000	G
EHBP1L1	254102	genome.wustl.edu	37	11	65349313	65349313	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:65349313T>G	ENST00000309295.4	+	9	1435	c.1170T>G	c.(1168-1170)agT>agG	p.S390R		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	390						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CAGAGGCCAGTGGGGTGGACA	0.562																																						dbGAP											0													69.0	81.0	77.0					11																	65349313		2120	4222	6342	-	-	-	SO:0001583	missense	0			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1170T>G	11.37:g.65349313T>G	ENSP00000312671:p.Ser390Arg		Q8TB89|Q9H7M7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.S390R	ENST00000309295.4	37	c.1170	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	T	11.54	1.668418	0.29604	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;T	0.81163	-0.23;-1.46	3.96	-4.46	0.03536	.	0.796041	0.11025	N	0.607938	T	0.58148	0.2102	N	0.20986	0.625	0.21822	N	0.999529	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.41179	-0.9523	10	0.34782	T	0.22	.	0.6187	0.00774	0.393:0.1813:0.2475:0.1782	.	390;390	E9PIH6;Q8N3D4	.;EH1L1_HUMAN	R	390	ENSP00000312671:S390R;ENSP00000431996:S390R	ENSP00000312671:S390R	S	+	3	2	EHBP1L1	65105889	0.000000	0.05858	0.015000	0.15790	0.341000	0.28922	-2.389000	0.01058	-0.724000	0.04908	0.459000	0.35465	AGT	EHBP1L1	-	NULL	ENSG00000173442		0.562	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	295	0.00	0	T	XM_170658		65349313	65349313	+1	no_errors	ENST00000309295	ensembl	human	known	69_37n	missense	154	10.98	19	SNP	0.004	G
EHBP1L1	254102	genome.wustl.edu	37	11	65349318	65349318	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:65349318T>G	ENST00000309295.4	+	9	1440	c.1175T>G	c.(1174-1176)gTg>gGg	p.V392G		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	392						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCCAGTGGGGTGGACACTGAG	0.552																																						dbGAP											0													70.0	83.0	79.0					11																	65349318		2135	4231	6366	-	-	-	SO:0001583	missense	0			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1175T>G	11.37:g.65349318T>G	ENSP00000312671:p.Val392Gly		Q8TB89|Q9H7M7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.V392G	ENST00000309295.4	37	c.1175	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	T	11.43	1.635339	0.29068	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;D	0.81579	-0.26;-1.51	4.26	-3.29	0.05017	.	1.142140	0.06876	N	0.801716	T	0.66005	0.2746	L	0.29908	0.895	0.09310	N	1	B;B	0.26318	0.146;0.146	B;B	0.19148	0.016;0.024	T	0.54200	-0.8329	10	0.66056	D	0.02	.	5.6311	0.17512	0.1352:0.4226:0.0:0.4422	.	392;392	E9PIH6;Q8N3D4	.;EH1L1_HUMAN	G	392	ENSP00000312671:V392G;ENSP00000431996:V392G	ENSP00000312671:V392G	V	+	2	0	EHBP1L1	65105894	0.001000	0.12720	0.095000	0.20976	0.387000	0.30353	-0.595000	0.05727	-0.553000	0.06158	-0.444000	0.05651	GTG	EHBP1L1	-	NULL	ENSG00000173442		0.552	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	297	0.66	2	T	XM_170658		65349318	65349318	+1	no_errors	ENST00000309295	ensembl	human	known	69_37n	missense	131	23.39	40	SNP	0.007	G
EHBP1L1	254102	genome.wustl.edu	37	11	65349335	65349335	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:65349335T>G	ENST00000309295.4	+	9	1457	c.1192T>G	c.(1192-1194)Tca>Gca	p.S398A		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	398						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGAGCCAAGGTCAGGAGGCAG	0.542																																						dbGAP											0													79.0	93.0	88.0					11																	65349335		2145	4256	6401	-	-	-	SO:0001583	missense	0			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1192T>G	11.37:g.65349335T>G	ENSP00000312671:p.Ser398Ala		Q8TB89|Q9H7M7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.S398A	ENST00000309295.4	37	c.1192	CCDS44649.1	11	.	.	.	.	.	.	.	.	.	.	T	6.200	0.405010	0.11754	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	T;T	0.81247	-0.09;-1.47	3.89	-7.78	0.01223	.	1.634730	0.04179	N	0.326171	T	0.64638	0.2616	L	0.27053	0.805	0.09310	N	0.999997	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.50162	-0.8860	10	0.27785	T	0.31	.	7.592	0.28027	0.0:0.3211:0.4053:0.2736	.	398;398	E9PIH6;Q8N3D4	.;EH1L1_HUMAN	A	398	ENSP00000312671:S398A;ENSP00000431996:S398A	ENSP00000312671:S398A	S	+	1	0	EHBP1L1	65105911	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	-0.994000	0.03716	-1.730000	0.01362	-0.429000	0.05907	TCA	EHBP1L1	-	NULL	ENSG00000173442		0.542	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	296	0.66	2	T	XM_170658		65349335	65349335	+1	no_errors	ENST00000309295	ensembl	human	known	69_37n	missense	160	14.74	28	SNP	0.001	G
EFEMP2	30008	genome.wustl.edu	37	11	65634507	65634507	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:65634507A>C	ENST00000307998.6	-	11	1444	c.1214T>G	c.(1213-1215)gTg>gGg	p.V405G	EFEMP2_ENST00000528176.1_Intron|MUS81_ENST00000525006.1_Intron|EFEMP2_ENST00000532648.1_5'UTR	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	405					blood coagulation (GO:0007596)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GGGGCCCGTCACCGGCCGGGC	0.607																																						dbGAP											0													65.0	64.0	64.0					11																	65634507		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF109121	CCDS8116.1	11q13	2011-06-17	2011-01-25		ENSG00000172638	ENSG00000172638		"""Fibulins"""	3219	protein-coding gene	gene with protein product	"""fibulin 4"""	604633	"""EGF-containing fibulin-like extracellular matrix protein 2"""			10601734, 10982184	Standard	NR_037718		Approved	FBLN4, UPH1	uc001ofy.4	O95967	OTTHUMG00000166664	ENST00000307998.6:c.1214T>G	11.37:g.65634507A>C	ENSP00000309953:p.Val405Gly		A8K7R4|B3KM31|B3KQT1|O75967	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,superfamily_TIL_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,prints_Thrombomodulin	p.V405G	ENST00000307998.6	37	c.1214	CCDS8116.1	11	.	.	.	.	.	.	.	.	.	.	A	21.3	4.127131	0.77549	.	.	ENSG00000172638	ENST00000526911;ENST00000307998;ENST00000530806	D;D;T	0.86562	-2.14;-1.78;-1.31	5.38	5.38	0.77491	.	0.000000	0.43110	D	0.000616	D	0.86936	0.6053	M	0.63428	1.95	0.80722	D	1	P	0.40050	0.7	B	0.42319	0.383	D	0.88372	0.2995	10	0.87932	D	0	.	13.6269	0.62170	1.0:0.0:0.0:0.0	.	405	O95967	FBLN4_HUMAN	G	64;405;58	ENSP00000436536:V64G;ENSP00000309953:V405G;ENSP00000436526:V58G	ENSP00000309953:V405G	V	-	2	0	EFEMP2	65391083	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.857000	0.92250	2.174000	0.68829	0.459000	0.35465	GTG	EFEMP2	-	NULL	ENSG00000172638		0.607	EFEMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFEMP2	HGNC	protein_coding	OTTHUMT00000391047.4	90	0.00	0	A	NM_016938		65634507	65634507	-1	no_errors	ENST00000307998	ensembl	human	known	69_37n	missense	58	18.31	13	SNP	1.000	C
EHMT2	10919	genome.wustl.edu	37	6	31851590	31851590	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:31851590T>G	ENST00000375537.4	-	22	2915	c.2909A>C	c.(2908-2910)cAc>cCc	p.H970P	EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375530.4_Missense_Mutation_p.H936P|EHMT2_ENST00000395728.3_Missense_Mutation_p.H1027P|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.H993P	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	970					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CACCTGCAGGTGGGTGATGTT	0.572																																						dbGAP											0													142.0	143.0	142.0					6																	31851590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.2909A>C	6.37:g.31851590T>G	ENSP00000364687:p.His970Pro		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Splice_Site	SNP	-	NULL	ENST00000375537.4	37	c.NULL	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788030	0.70337	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.16	5.16	0.70880	Pre-SET zinc-binding sub-group (1);Pre-SET domain (1);	0.000000	0.85682	D	0.000000	D	0.85375	0.5682	N	0.11818	0.18	0.80722	D	1	B;B;D;D	0.71674	0.011;0.208;0.995;0.998	B;B;D;D	0.76575	0.064;0.149;0.988;0.988	D	0.89491	0.3757	10	0.72032	D	0.01	.	12.5146	0.56026	0.0:0.0:0.0:1.0	.	993;936;970;791	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	P	1027;993;936;970;791	ENSP00000379078:H1027P;ENSP00000364678:H993P;ENSP00000364680:H936P;ENSP00000364687:H970P	ENSP00000364678:H993P	H	-	2	0	EHMT2	31959569	1.000000	0.71417	0.999000	0.59377	0.903000	0.53119	7.844000	0.86867	1.946000	0.56461	0.533000	0.62120	CAC	EHMT2-AS1	-	-	ENSG00000237080		0.572	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2-AS1	HGNC	protein_coding	OTTHUMT00000076355.5	123	0.79	1	T	NM_006709		31851590	31851590	+1	no_errors	ENST00000434689	ensembl	human	known	69_37n	splice_site	100	15.13	18	SNP	1.000	G
EIF2B5	8893	genome.wustl.edu	37	3	183859753	183859753	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:183859753T>G	ENST00000273783.3	+	8	1319	c.1197T>G	c.(1195-1197)ggT>ggG	p.G399G	EIF2B5_ENST00000444495.1_Silent_p.G399G	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	399					astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGTGGCAGGGTGTTCGAGTGG	0.562																																						dbGAP											0													128.0	114.0	119.0					3																	183859753		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1197T>G	3.37:g.183859753T>G			Q541Z1|Q96D04	Silent	SNP	pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain	p.G399	ENST00000273783.3	37	c.1197	CCDS3252.1	3																																																																																			EIF2B5	-	superfamily_Trimer_LpxA-like	ENSG00000145191		0.562	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	HGNC	protein_coding	OTTHUMT00000346168.1	199	0.50	1	T			183859753	183859753	+1	no_errors	ENST00000273783	ensembl	human	known	69_37n	silent	108	21.17	29	SNP	0.648	G
EIF4EBP1	1978	genome.wustl.edu	37	8	37917603	37917603	+	3'UTR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:37917603A>C	ENST00000338825.4	+	0	740				KB-1836B5.1_ENST00000563059.1_RNA|EIF4EBP1_ENST00000520657.1_3'UTR	NM_004095.3	NP_004086.1	Q13541	4EBP1_HUMAN	eukaryotic translation initiation factor 4E binding protein 1						cellular protein metabolic process (GO:0044267)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translational initiation (GO:0045947)|positive regulation of mitotic cell cycle (GO:0045931)|response to ethanol (GO:0045471)|response to ischemia (GO:0002931)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)	translation repressor activity (GO:0030371)			endometrium(1)|lung(1)|ovary(1)|urinary_tract(1)	4	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)				CACTCAGGGCACCTGCCCCCT	0.632																																					Melanoma(144;549 1821 15133 20335 46806)	dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS6100.1	8p12	2008-10-08			ENSG00000187840	ENSG00000187840			3288	protein-coding gene	gene with protein product	"""phosphorylated heat- and acid-stable protein regulated by insulin 1"""	602223				7935836	Standard	NM_004095		Approved	PHAS-I, 4E-BP1	uc003xks.3	Q13541	OTTHUMG00000164012	ENST00000338825.4:c.*150A>C	8.37:g.37917603A>C			B2R502|D3DSW8|Q6IBN3	RNA	SNP	-	NULL	ENST00000338825.4	37	NULL	CCDS6100.1	8																																																																																			EIF4EBP1	-	-	ENSG00000187840		0.632	EIF4EBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4EBP1	HGNC	protein_coding	OTTHUMT00000376743.1	27	0.00	0	A	NM_004095		37917603	37917603	+1	no_errors	ENST00000520657	ensembl	human	putative	69_37n	rna	22	18.52	5	SNP	0.878	C
AGO2	27161	genome.wustl.edu	37	8	141557699	141557699	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:141557699A>C	ENST00000220592.5	-	13	1728	c.1616T>G	c.(1615-1617)gTg>gGg	p.V539G	AGO2_ENST00000519980.1_Missense_Mutation_p.V539G	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	539	Interaction with guide RNA.|Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|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)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CATCCCCAGCACCGTGTCTCC	0.637																																						dbGAP											0													179.0	138.0	152.0					8																	141557699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1616T>G	8.37:g.141557699A>C	ENSP00000220592:p.Val539Gly		Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.V539G	ENST00000220592.5	37	c.1616	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	A	14.67	2.603432	0.46423	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.29917	1.55;1.55	5.49	4.3	0.51218	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.37945	0.1022	M	0.69823	2.125	0.80722	D	1	B;B	0.27316	0.175;0.009	B;B	0.35182	0.197;0.028	T	0.22173	-1.0224	10	0.56958	D	0.05	-4.5814	11.7022	0.51577	0.8674:0.0:0.0:0.1326	.	539;539	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	G	539	ENSP00000220592:V539G;ENSP00000430176:V539G	ENSP00000220592:V539G	V	-	2	0	EIF2C2	141626881	1.000000	0.71417	0.740000	0.30986	0.400000	0.30750	9.193000	0.94954	0.862000	0.35528	0.533000	0.62120	GTG	EIF2C2	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi	ENSG00000123908		0.637	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	90	0.00	0	A			141557699	141557699	-1	no_errors	ENST00000220592	ensembl	human	known	69_37n	missense	135	15.09	24	SNP	0.999	C
EIF4G1	1981	genome.wustl.edu	37	3	184043713	184043713	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:184043713A>C	ENST00000346169.2	+	21	3467	c.3196A>C	c.(3196-3198)Acc>Ccc	p.T1066P	EIF4G1_ENST00000342981.4_Missense_Mutation_p.T1067P|EIF4G1_ENST00000427845.1_Missense_Mutation_p.T980P|EIF4G1_ENST00000411531.1_Missense_Mutation_p.T1027P|EIF4G1_ENST00000319274.6_Missense_Mutation_p.T1066P|EIF4G1_ENST00000434061.2_Missense_Mutation_p.T871P|EIF4G1_ENST00000382330.3_Missense_Mutation_p.T1073P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_Missense_Mutation_p.T1073P|EIF4G1_ENST00000435046.2_Missense_Mutation_p.T870P|EIF4G1_ENST00000352767.3_Missense_Mutation_p.T1073P|EIF4G1_ENST00000414031.1_Missense_Mutation_p.T1026P|EIF4G1_ENST00000350481.5_Missense_Mutation_p.T902P|SNORD66_ENST00000390856.1_RNA|EIF4G1_ENST00000392537.2_Missense_Mutation_p.T979P|EIF4G1_ENST00000441154.1_Missense_Mutation_p.T903P	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1066	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCCATTGACACCTCACGACT	0.517																																						dbGAP											0													139.0	133.0	135.0					3																	184043713		2203	4300	6503	-	-	-	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3196A>C	3.37:g.184043713A>C	ENSP00000316879:p.Thr1066Pro		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.T1073P	ENST00000346169.2	37	c.3217	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	A	5.840	0.339192	0.11069	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000382330;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000441154;ENST00000434061;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.03580	4.06;4.06;3.97;4.06;3.89;4.06;3.96;4.04;4.06;4.06;4.05;3.88;3.88;3.88	5.89	5.89	0.94794	.	0.098808	0.64402	D	0.000002	T	0.02649	0.0080	N	0.11818	0.18	0.58432	D	0.999999	B;B;B	0.13145	0.007;0.007;0.007	B;B;B	0.14578	0.011;0.011;0.011	T	0.38693	-0.9649	10	0.06099	T	0.92	-18.0195	16.3123	0.82883	1.0:0.0:0.0:0.0	.	1073;1067;1066	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	P	1066;1026;979;1073;902;1073;980;1067;1066;1073;1027;903;871;870	ENSP00000316879:T1066P;ENSP00000391935:T1026P;ENSP00000376320:T979P;ENSP00000371767:T1073P;ENSP00000317600:T902P;ENSP00000338020:T1073P;ENSP00000407682:T980P;ENSP00000343450:T1067P;ENSP00000323737:T1066P;ENSP00000416255:T1073P;ENSP00000395974:T1027P;ENSP00000399858:T903P;ENSP00000411826:T871P;ENSP00000404754:T870P	ENSP00000323737:T1066P	T	+	1	0	EIF4G1	185526407	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.403000	0.52615	2.254000	0.74563	0.459000	0.35465	ACC	EIF4G1	-	NULL	ENSG00000114867		0.517	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	158	0.00	0	A	NM_182917		184043713	184043713	+1	no_errors	ENST00000352767	ensembl	human	known	69_37n	missense	143	12.12	20	SNP	1.000	C
ELAVL1	1994	genome.wustl.edu	37	19	8028615	8028615	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:8028615A>C	ENST00000407627.2	-	6	862	c.733T>G	c.(733-735)Tgc>Ggc	p.C245G	ELAVL1_ENST00000596459.1_Missense_Mutation_p.C245G|ELAVL1_ENST00000593807.1_3'UTR|ELAVL1_ENST00000351593.5_Missense_Mutation_p.C272G	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	245	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|multicellular organismal development (GO:0007275)|positive regulation of translation (GO:0045727)|regulation of stem cell maintenance (GO:2000036)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|double-stranded RNA binding (GO:0003725)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATGAAAATGCACCAGCCGGAG	0.597																																						dbGAP											0													73.0	61.0	65.0					19																	8028615		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38175	CCDS12193.1	19p13.2	2013-10-03	2013-10-03			ENSG00000066044		"""RNA binding motif (RRM) containing"""	3312	protein-coding gene	gene with protein product	"""embryonic lethal, abnormal vision, drosophila, homolog-like 1"", ""Hu antigen R"""	603466	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)"""	HUR		8626503, 9003489	Standard	NM_001419		Approved	HuR, Hua, MelG	uc002mjb.3	Q15717		ENST00000407627.2:c.733T>G	19.37:g.8028615A>C	ENSP00000385269:p.Cys245Gly		B4DVB8|Q53XN6|Q9BTT1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.C272G	ENST00000407627.2	37	c.814	CCDS12193.1	19	.	.	.	.	.	.	.	.	.	.	A	19.62	3.861973	0.71949	.	.	ENSG00000066044	ENST00000407627;ENST00000351593	T;T	0.05447	3.44;3.44	5.85	5.85	0.93711	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	L	0.49778	1.585	0.80722	D	1	D	0.62365	0.991	P	0.61592	0.891	T	0.00102	-1.2063	10	0.87932	D	0	.	14.1823	0.65583	1.0:0.0:0.0:0.0	.	245	Q15717	ELAV1_HUMAN	G	245;272	ENSP00000385269:C245G;ENSP00000264073:C272G	ENSP00000264073:C272G	C	-	1	0	ELAVL1	7934615	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.962000	0.93254	2.233000	0.73108	0.533000	0.62120	TGC	ELAVL1	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000066044		0.597	ELAVL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELAVL1	HGNC	protein_coding	OTTHUMT00000461494.3	93	0.00	0	A	NM_001419		8028615	8028615	-1	no_errors	ENST00000351593	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	1.000	C
ELF3	1999	genome.wustl.edu	37	1	201980364	201980364	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:201980364A>C	ENST00000359651.3	+	1	3292	c.100A>C	c.(100-102)Acc>Ccc	p.T34P	ELF3_ENST00000367284.5_Missense_Mutation_p.T34P|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.T34P|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000495848.1_3'UTR					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CCCTGCTGCCACCTTTGGGGC	0.582																																						dbGAP											0													110.0	105.0	107.0					1																	201980364		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.100A>C	1.37:g.201980364A>C	ENSP00000352673:p.Thr34Pro			Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets	p.T34P	ENST00000359651.3	37	c.100	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	A	7.133	0.580255	0.13686	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	5.88	-11.8	0.00035	Sterile alpha motif/pointed domain (1);	2.832410	0.00780	N	0.001272	T	0.15696	0.0378	L	0.43152	1.355	0.20821	N	0.999842	B	0.02656	0.0	B	0.04013	0.001	T	0.22661	-1.0210	10	0.62326	D	0.03	.	1.0958	0.01673	0.243:0.193:0.3231:0.2409	.	34	P78545	ELF3_HUMAN	P	34	ENSP00000352673:T34P;ENSP00000356253:T34P;ENSP00000356252:T34P;ENSP00000405162:T34P	ENSP00000311348:T34P	T	+	1	0	ELF3	200246987	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-2.431000	0.01023	-3.383000	0.00174	-1.676000	0.00740	ACC	ELF3	-	superfamily_SAM/pointed	ENSG00000163435		0.582	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	125	0.79	1	A	NM_004433		201980364	201980364	+1	no_errors	ENST00000359651	ensembl	human	known	69_37n	missense	198	13.42	31	SNP	0.004	C
ELMOD3	84173	genome.wustl.edu	37	2	85598564	85598564	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:85598564T>G	ENST00000409890.2	+	10	1153	c.486T>G	c.(484-486)tgT>tgG	p.C162W	RN7SL113P_ENST00000497900.2_RNA|ELMOD3_ENST00000315658.7_Splice_Site_p.C162W|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409344.3_Splice_Site_p.C162W|ELMOD3_ENST00000393852.4_Splice_Site_p.C162W|ELMOD3_ENST00000409013.3_Splice_Site_p.C162W|ELMOD3_ENST00000428955.2_Splice_Site_p.C162W|RNU7-162P_ENST00000516669.1_RNA			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	162					phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						TTGGGGCAGGTGGCCTGGATA	0.547																																						dbGAP											0													63.0	61.0	62.0					2																	85598564		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.485-1T>G	2.37:g.85598564T>G			B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Missense_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO	p.C162W	ENST00000409890.2	37	c.486	CCDS46352.1	2	.	.	.	.	.	.	.	.	.	.	T	18.87	3.714445	0.68730	.	.	ENSG00000115459	ENST00000409331;ENST00000409013;ENST00000409890;ENST00000409344;ENST00000393852;ENST00000428955;ENST00000315658	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	6.17	2.66	0.31614	Engulfment/cell motility, ELMO (1);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	L	0.47716	1.5	0.80722	D	1	D;P	0.89917	1.0;0.86	D;B	0.97110	1.0;0.389	T	0.25363	-1.0134	10	0.51188	T	0.08	.	8.4742	0.33003	0.0:0.2118:0.0:0.7882	.	162;162	Q96FG2-6;Q96FG2	.;ELMD3_HUMAN	W	162	ENSP00000386257:C162W;ENSP00000387139:C162W;ENSP00000386304:C162W;ENSP00000386248:C162W;ENSP00000377434:C162W;ENSP00000412692:C162W;ENSP00000318264:C162W	ENSP00000318264:C162W	C	+	3	2	ELMOD3	85452075	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.169000	0.31871	1.160000	0.42584	0.533000	0.62120	TGT	ELMOD3	-	pfam_Engulfment_cell_motility_ELMO	ENSG00000115459		0.547	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMOD3	HGNC	protein_coding	OTTHUMT00000329124.1	165	0.60	1	T	NM_032213	Missense_Mutation	85598564	85598564	+1	no_errors	ENST00000315658	ensembl	human	known	69_37n	missense	95	25.20	32	SNP	1.000	G
ELP2	55250	genome.wustl.edu	37	18	33750147	33750147	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:33750147A>C	ENST00000358232.6	+	20	2261	c.2198A>C	c.(2197-2199)cAc>cCc	p.H733P	ELP2_ENST00000350494.6_Missense_Mutation_p.H728P|ELP2_ENST00000351393.6_Missense_Mutation_p.H707P|ELP2_ENST00000542824.1_Missense_Mutation_p.H663P|ELP2_ENST00000423854.2_Missense_Mutation_p.H663P|ELP2_ENST00000442325.2_Missense_Mutation_p.H798P	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	733					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CCAGTGCTCCACCCTTCTCAA	0.512																																						dbGAP											0													144.0	119.0	127.0					18																	33750147		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2198A>C	18.37:g.33750147A>C	ENSP00000350967:p.His733Pro		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H733P	ENST00000358232.6	37	c.2198	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	A	0.251	-1.006607	0.02112	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	4.7	-0.991	0.10235	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.622914	0.17495	N	0.172214	T	0.09949	0.0244	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B	0.19706	0.038;0.038;0.008;0.013;0.007;0.008	B;B;B;B;B;B	0.16289	0.007;0.007;0.015;0.009;0.005;0.004	T	0.24728	-1.0152	10	0.23302	T	0.38	-0.1403	4.4523	0.11626	0.4051:0.2073:0.3876:0.0	.	728;798;663;663;707;733	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	P	733;707;798;663;728;663	ENSP00000350967:H733P;ENSP00000257191:H707P;ENSP00000414851:H798P;ENSP00000391202:H663P;ENSP00000316051:H728P;ENSP00000443800:H663P	ENSP00000316051:H728P	H	+	2	0	ELP2	32004145	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-0.169000	0.09911	-0.028000	0.13850	-0.462000	0.05337	CAC	ELP2	-	superfamily_WD40_repeat_dom	ENSG00000134759		0.512	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	208	0.48	1	A	NM_018255		33750147	33750147	+1	no_errors	ENST00000358232	ensembl	human	known	69_37n	missense	130	12.16	18	SNP	0.020	C
EMC1	23065	genome.wustl.edu	37	1	19549247	19549247	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:19549247T>G	ENST00000477853.1	-	20	2500	c.2458A>C	c.(2458-2460)Acc>Ccc	p.T820P	EMC1_ENST00000375208.3_Missense_Mutation_p.T798P|EMC1_ENST00000375199.3_Missense_Mutation_p.T819P|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000480380.1_5'Flank	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	820						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											CTGAAGGCGGTGGCGTTGTAT	0.602																																						dbGAP											0													118.0	104.0	109.0					1																	19549247		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.2458A>C	1.37:g.19549247T>G	ENSP00000420608:p.Thr820Pro		A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620,superfamily_Quinonprotein_ADH-like	p.T820P	ENST00000477853.1	37	c.2458	CCDS190.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.506076|4.506076	0.85282|0.85282	.|.	.|.	ENSG00000127463|ENSG00000127463	ENST00000375197|ENST00000477853;ENST00000375199;ENST00000375208;ENST00000486405	.|T;T;T	.|0.26067	.|1.76;1.76;1.76	5.98|5.98	5.98|5.98	0.97165|0.97165	.|Domain of unknown function DUF1620 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51805|0.51805	0.1696|0.1696	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|P;D;D;D	.|0.89917	.|0.929;0.997;1.0;1.0	.|P;D;D;D	.|0.91635	.|0.729;0.983;0.999;0.999	T|T	0.51044|0.51044	-0.8755|-0.8755	5|9	.|.	.|.	.|.	-18.6535|-18.6535	15.2862|15.2862	0.73831|0.73831	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|798;819;819;820	.|Q8N766-4;Q8N766-2;Q8N766-3;Q8N766	.|.;.;.;K0090_HUMAN	P|P	553|820;819;798;65	.|ENSP00000420608:T820P;ENSP00000364345:T819P;ENSP00000364354:T798P	.|.	H|T	-|-	2|1	0|0	KIAA0090|KIAA0090	19421834|19421834	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.718000|0.718000	0.41266|0.41266	5.673000|5.673000	0.68109|0.68109	2.289000|2.289000	0.77006|0.77006	0.533000|0.533000	0.62120|0.62120	CAC|ACC	EMC1	-	pfam_DUF1620	ENSG00000127463		0.602	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	197	0.98	2	T	NM_015047		19549247	19549247	-1	no_errors	ENST00000477853	ensembl	human	known	69_37n	missense	143	15.29	26	SNP	1.000	G
EMC9	51016	genome.wustl.edu	37	14	24608367	24608367	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:24608367A>C	ENST00000419198.2	-	5	759	c.479T>G	c.(478-480)gTg>gGg	p.V160G	EMC9_ENST00000558200.1_5'Flank|RP11-468E2.5_ENST00000558478.1_lincRNA|EMC9_ENST00000216799.4_Missense_Mutation_p.V160G|EMC9_ENST00000560403.1_Missense_Mutation_p.V86G			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	160						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)											TAGAGCTCCCACCATCTGCCG	0.547																																						dbGAP											0													103.0	100.0	101.0					14																	24608367		2203	4300	6503	-	-	-	SO:0001583	missense	0			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.479T>G	14.37:g.24608367A>C	ENSP00000403210:p.Val160Gly		D3DS60|Q9BUM3	Missense_Mutation	SNP	pfam_UPF0172	p.V160G	ENST00000419198.2	37	c.479	CCDS9613.1	14	.	.	.	.	.	.	.	.	.	.	a	13.46	2.242753	0.39598	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.49432	0.78;0.78	5.4	4.25	0.50352	.	0.350840	0.29814	N	0.011135	T	0.44222	0.1283	M	0.64170	1.965	0.58432	D	0.999997	B	0.27910	0.193	B	0.31390	0.129	T	0.44143	-0.9347	10	0.66056	D	0.02	-15.8229	6.7234	0.23342	0.8221:0.0:0.1779:0.0	.	160	Q9Y3B6	F158A_HUMAN	G	160	ENSP00000403210:V160G;ENSP00000216799:V160G	ENSP00000216799:V160G	V	-	2	0	FAM158A	23678207	0.980000	0.34600	1.000000	0.80357	0.998000	0.95712	2.369000	0.44231	1.054000	0.40438	0.533000	0.62120	GTG	EMC9	-	pfam_UPF0172	ENSG00000100908		0.547	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EMC9	HGNC	protein_coding	OTTHUMT00000071917.4	123	0.00	0	A	NM_016049		24608367	24608367	-1	no_errors	ENST00000216799	ensembl	human	known	69_37n	missense	68	20.00	17	SNP	0.994	C
EML2	24139	genome.wustl.edu	37	19	46136353	46136353	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:46136353A>C	ENST00000245925.3	-	5	424	c.374T>G	c.(373-375)gTg>gGg	p.V125G	EML2_ENST00000586902.1_5'Flank|EML2_ENST00000589876.1_Missense_Mutation_p.V125G|EML2_ENST00000536630.1_Missense_Mutation_p.V272G|EML2_ENST00000587152.1_Missense_Mutation_p.V326G	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	125	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GGTTCCCGCCACCTGTCCCGT	0.592																																						dbGAP											0													162.0	105.0	124.0					19																	46136353		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.374T>G	19.37:g.46136353A>C	ENSP00000245925:p.Val125Gly		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V326G	ENST00000245925.3	37	c.977	CCDS12670.1	19	.	.	.	.	.	.	.	.	.	.	A	25.5	4.643197	0.87859	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.37915	1.17;1.17;5.06	5.04	5.04	0.67666	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	M	0.86343	2.81	0.80722	D	1	D;D;P;D;D	0.69078	0.997;0.973;0.761;0.958;0.973	D;D;P;P;P	0.69479	0.964;0.956;0.451;0.639;0.895	T	0.62020	-0.6942	10	0.19147	T	0.46	-21.1695	12.7551	0.57331	1.0:0.0:0.0:0.0	.	125;291;272;283;125	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	G	272;125;326;283	ENSP00000442365:V272G;ENSP00000245925:V125G;ENSP00000382503:V283G	ENSP00000245925:V125G	V	-	2	0	EML2	50828193	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.360000	0.73064	2.103000	0.63969	0.460000	0.39030	GTG	EML2	-	superfamily_Quinonprotein_ADH-like,smart_WD40_repeat	ENSG00000125746		0.592	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	HGNC	protein_coding	OTTHUMT00000459608.1	200	0.98	2	A	NM_012155		46136353	46136353	-1	no_errors	ENST00000587152	ensembl	human	known	69_37n	missense	204	13.87	33	SNP	1.000	C
EML6	400954	genome.wustl.edu	37	2	55155845	55155845	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:55155845A>C	ENST00000356458.6	+	27	4481	c.3961A>C	c.(3961-3963)Acc>Ccc	p.T1321P		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	1321						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						AATGGAAGGCACCAAGCCACA	0.443																																						dbGAP											0													92.0	91.0	91.0					2																	55155845		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.3961A>C	2.37:g.55155845A>C	ENSP00000348842:p.Thr1321Pro		A8MUB5|B6ZDG7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T1321P	ENST00000356458.6	37	c.3961	CCDS46286.1	2	.	.	.	.	.	.	.	.	.	.	A	18.64	3.668014	0.67814	.	.	ENSG00000214595	ENST00000356458	T	0.35605	1.3	6.17	5.01	0.66863	.	.	.	.	.	T	0.33527	0.0866	N	0.24115	0.695	0.33195	D	0.551371	D	0.54397	0.966	P	0.49421	0.61	T	0.43163	-0.9408	9	0.35671	T	0.21	.	13.6745	0.62445	0.8711:0.1289:0.0:0.0	.	1321	Q6ZMW3	EMAL6_HUMAN	P	1321	ENSP00000348842:T1321P	ENSP00000348842:T1321P	T	+	1	0	EML6	55009349	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.138000	0.64795	1.130000	0.42092	0.533000	0.62120	ACC	EML6	-	NULL	ENSG00000214595		0.443	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	153	0.65	1	A	XM_001725002		55155845	55155845	+1	no_errors	ENST00000356458	ensembl	human	novel	69_37n	missense	150	10.18	17	SNP	1.000	C
EMR3	84658	genome.wustl.edu	37	19	14740913	14740913	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:14740913T>G	ENST00000253673.5	-	14	1850	c.1750A>C	c.(1750-1752)Acc>Ccc	p.T584P	EMR3_ENST00000344373.4_Missense_Mutation_p.T532P|EMR3_ENST00000443157.2_Missense_Mutation_p.T458P|EMR3_ENST00000599900.1_Missense_Mutation_p.T369P	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	584					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTGATGATGGTGAAGAGGTAG	0.512																																						dbGAP											0													118.0	100.0	106.0					19																	14740913		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.1750A>C	19.37:g.14740913T>G	ENSP00000253673:p.Thr584Pro			Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd,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_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97	p.T584P	ENST00000253673.5	37	c.1750	CCDS12315.1	19	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831163	0.71258	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.55588	0.51;0.51;0.51	3.76	3.76	0.43208	GPCR, family 2-like (1);	.	.	.	.	T	0.77498	0.4139	H	0.94264	3.515	0.37210	D	0.904789	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.77004	0.946;0.976;0.989	D	0.85045	0.0925	9	0.87932	D	0	.	10.7634	0.46279	0.0:0.0:0.0:1.0	.	458;532;584	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	P	458;584;532	ENSP00000396208:T458P;ENSP00000253673:T584P;ENSP00000340758:T532P	ENSP00000253673:T584P	T	-	1	0	EMR3	14601913	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.864000	0.62990	1.700000	0.51204	0.533000	0.62120	ACC	EMR3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000131355		0.512	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	HGNC	protein_coding	OTTHUMT00000466488.1	244	0.81	2	T	NM_032571		14740913	14740913	-1	no_errors	ENST00000253673	ensembl	human	known	69_37n	missense	143	13.33	22	SNP	1.000	G
EMR2	30817	genome.wustl.edu	37	19	14854490	14854490	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:14854490T>G	ENST00000315576.3	-	19	2741	c.2290A>C	c.(2290-2292)Acc>Ccc	p.T764P	EMR2_ENST00000596991.2_Missense_Mutation_p.T753P|EMR2_ENST00000346057.1_Missense_Mutation_p.T715P|EMR2_ENST00000353005.1_Missense_Mutation_p.T622P|EMR2_ENST00000595839.1_Missense_Mutation_p.T622P|EMR2_ENST00000392967.2_Missense_Mutation_p.T753P|EMR2_ENST00000353876.1_Missense_Mutation_p.T671P|EMR2_ENST00000594294.1_Missense_Mutation_p.T715P|EMR2_ENST00000392965.3_Missense_Mutation_p.T706P|EMR2_ENST00000594076.1_Missense_Mutation_p.T671P|EMR2_ENST00000601345.1_Missense_Mutation_p.T753P	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	764					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TTGATGATGGTGAAGAGGTAG	0.597																																						dbGAP											0													165.0	146.0	152.0					19																	14854490		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.2290A>C	19.37:g.14854490T>G	ENSP00000319883:p.Thr764Pro		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	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,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like	p.T764P	ENST00000315576.3	37	c.2290	CCDS32935.1	19	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562983	0.86335	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000392965	T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51	5.21	5.21	0.72293	GPCR, family 2-like (1);	.	.	.	.	T	0.80979	0.4728	H	0.96889	3.9	0.80722	D	1	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	D;D;D;D;D;D;D;D	0.97110	0.998;0.998;0.999;0.999;0.998;0.999;1.0;0.995	D	0.86965	0.2094	9	0.87932	D	0	.	13.0328	0.58851	0.0:0.0:0.0:1.0	.	706;671;764;622;715;764;764;753	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.;.;.;.;.;.;EMR2_HUMAN;.	P	764;753;715;671;622;706	ENSP00000319883:T764P;ENSP00000376694:T753P;ENSP00000263380:T715P;ENSP00000319454:T671P;ENSP00000319838:T622P;ENSP00000376692:T706P	ENSP00000319883:T764P	T	-	1	0	EMR2	14715490	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.968000	0.70413	1.974000	0.57490	0.491000	0.48974	ACC	EMR2	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000127507		0.597	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	186	0.53	1	T			14854490	14854490	-1	no_errors	ENST00000315576	ensembl	human	known	69_37n	missense	135	13.46	21	SNP	1.000	G
ENGASE	64772	genome.wustl.edu	37	17	77079917	77079917	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:77079917A>G	ENST00000579016.1	+	10	1326	c.1326A>G	c.(1324-1326)ggA>ggG	p.G442G	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	442						cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACAGGCTGGGAGGGGATGGCC	0.657																																						dbGAP											0													35.0	44.0	41.0					17																	77079917		2081	4208	6289	-	-	-	SO:0001819	synonymous_variant	0			AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.1326A>G	17.37:g.77079917A>G			Q659F0|Q8TB86|Q9H6U4	Silent	SNP	pfam_Glyco_hydro_85,pfscan_BRCT_dom	p.G442	ENST00000579016.1	37	c.1326	CCDS42394.1	17																																																																																			ENGASE	-	NULL	ENSG00000167280		0.657	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENGASE	HGNC	protein_coding	OTTHUMT00000395807.1	75	0.00	0	A	NM_022759		77079917	77079917	+1	no_errors	ENST00000579016	ensembl	human	known	69_37n	silent	29	29.27	12	SNP	0.000	G
ENPEP	2028	genome.wustl.edu	37	4	111397746	111397746	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:111397746A>C	ENST00000265162.5	+	1	518	c.176A>C	c.(175-177)cAc>cCc	p.H59P		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	59					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GCTCCTTCCCACCTGCCTTCT	0.632																																						dbGAP											0													96.0	96.0	96.0					4																	111397746		2203	4300	6503	-	-	-	SO:0001583	missense	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.176A>C	4.37:g.111397746A>C	ENSP00000265162:p.His59Pro		Q504U2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.H59P	ENST00000265162.5	37	c.176	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	A	12.76	2.036000	0.35893	.	.	ENSG00000138792	ENST00000265162	T	0.01279	5.06	4.6	-6.52	0.01872	.	3.709890	0.01330	U	0.011239	T	0.01387	0.0045	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46275	-0.9203	10	0.30078	T	0.28	.	11.6414	0.51235	0.1952:0.7168:0.088:0.0	.	59	Q07075	AMPE_HUMAN	P	59	ENSP00000265162:H59P	ENSP00000265162:H59P	H	+	2	0	ENPEP	111617195	0.000000	0.05858	0.000000	0.03702	0.503000	0.33858	-0.056000	0.11787	-0.692000	0.05128	0.402000	0.26972	CAC	ENPEP	-	NULL	ENSG00000138792		0.632	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	99	0.99	1	A			111397746	111397746	+1	no_errors	ENST00000265162	ensembl	human	known	69_37n	missense	76	29.73	33	SNP	0.000	C
ENPEP	2028	genome.wustl.edu	37	4	111397760	111397760	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:111397760A>C	ENST00000265162.5	+	1	532	c.190A>C	c.(190-192)Acg>Ccg	p.T64P		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	64					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GCCTTCTTCCACGGCCAGCCC	0.632																																						dbGAP											0													78.0	79.0	79.0					4																	111397760		2203	4300	6503	-	-	-	SO:0001583	missense	0			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.190A>C	4.37:g.111397760A>C	ENSP00000265162:p.Thr64Pro		Q504U2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.T64P	ENST00000265162.5	37	c.190	CCDS3691.1	4	.	.	.	.	.	.	.	.	.	.	A	14.37	2.514687	0.44763	.	.	ENSG00000138792	ENST00000265162	T	0.01406	4.93	5.63	-9.24	0.00669	.	1.199950	0.05717	N	0.596955	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.49041	-0.8980	10	0.28530	T	0.3	.	0.7458	0.00982	0.3273:0.294:0.17:0.2087	.	64	Q07075	AMPE_HUMAN	P	64	ENSP00000265162:T64P	ENSP00000265162:T64P	T	+	1	0	ENPEP	111617209	0.000000	0.05858	0.000000	0.03702	0.243000	0.25628	-0.367000	0.07553	-1.935000	0.01049	0.402000	0.26972	ACG	ENPEP	-	NULL	ENSG00000138792		0.632	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	HGNC	protein_coding	OTTHUMT00000255747.2	100	0.00	0	A			111397760	111397760	+1	no_errors	ENST00000265162	ensembl	human	known	69_37n	missense	77	19.59	19	SNP	0.000	C
LINC01287	103724390	genome.wustl.edu	37	7	153109928	153109928	+	lincRNA	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:153109928T>G	ENST00000416982.1	-	0	1120																											agccgaatggtggcagaagaa	0.478																																						dbGAP											0													38.0	42.0	41.0					7																	153109928		692	1591	2283	-	-	-			0																															7.37:g.153109928T>G				RNA	SNP	-	NULL	ENST00000416982.1	37	NULL		7																																																																																			AC073236.3	-	-	ENSG00000234722		0.478	AC073236.3-001	KNOWN	basic	lincRNA	ENSG00000234722	Clone_based_vega_gene	lincRNA	OTTHUMT00000280517.1	236	0.42	1	T			153109928	153109928	-1	no_errors	ENST00000416982	ensembl	human	known	69_37n	rna	131	21.39	37	SNP	0.030	G
IDS	3423	genome.wustl.edu	37	X	148607455	148607455	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:148607455A>C	ENST00000422081.2	-	3	1197				LINC00893_ENST00000412882.1_RNA|LINC00893_ENST00000609369.1_RNA|IDS_ENST00000427113.2_Intron|LINC00893_ENST00000596412.2_RNA|IDS_ENST00000541269.1_Intron|AF011889.2_ENST00000370438.2_lincRNA|LINC00893_ENST00000437981.1_RNA|LINC00893_ENST00000431025.1_RNA			P22304	IDS_HUMAN	iduronate 2-sulfatase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AAAGTCTTTCACCCTGGTACT	0.537																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000422081.2:c.214+3448T>G	X.37:g.148607455A>C			D3DWT4|Q14604|Q9BRM3	RNA	SNP	-	NULL	ENST00000422081.2	37	NULL		X																																																																																			AF011889.2	-	-	ENSG00000238039		0.537	IDS-006	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	ENSG00000238039	Clone_based_vega_gene	protein_coding	OTTHUMT00000058694.2	492	1.00	5	A			148607455	148607455	-1	no_errors	ENST00000370438	ensembl	human	known	69_37n	rna	122	19.21	29	SNP	1.000	C
IFNAR2	3455	genome.wustl.edu	37	21	34625119	34625119	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:34625119A>C	ENST00000342136.4	+	7	1019	c.693A>C	c.(691-693)ccA>ccC	p.P231P	AP000295.9_ENST00000433395.2_Missense_Mutation_p.H139P|IFNAR2_ENST00000382264.3_Silent_p.P231P|IFNAR2_ENST00000413881.1_Silent_p.P159P|IFNAR2_ENST00000404220.3_Silent_p.P231P|IFNAR2_ENST00000342101.3_Silent_p.P231P|IFNAR2_ENST00000382241.3_Silent_p.P231P			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	231					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	CCCTCCTTCCACCTGGCCAGG	0.363																																						dbGAP											0													101.0	91.0	94.0					21																	34625119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.693A>C	21.37:g.34625119A>C			A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.H98P	ENST00000342136.4	37	c.293	CCDS13621.1	21	.	.	.	.	.	.	.	.	.	.	A	2.918	-0.223880	0.06061	.	.	ENSG00000249624	ENST00000433395	.	.	.	3.57	-7.15	0.01521	.	.	.	.	.	T	0.25827	0.0629	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23476	-1.0187	4	.	.	.	.	7.1987	0.25868	0.2231:0.0:0.5298:0.2472	.	.	.	.	P	139	.	.	H	+	2	0	AP000295.9	33546989	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-3.878000	0.00344	-2.374000	0.00599	-1.590000	0.00845	CAC	AP000295.9	-	superfamily_Fibronectin_type3	ENSG00000249624		0.363	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000249624	Clone_based_vega_gene	protein_coding	OTTHUMT00000139825.1	133	0.74	1	A			34625119	34625119	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000432231	ensembl	human	known	69_37n	missense	157	11.24	20	SNP	0.000	C
RP11-93K22.13	0	genome.wustl.edu	37	3	129814940	129814940	+	lincRNA	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:129814940A>G	ENST00000514010.1	-	0	0				ALG1L2_ENST00000507643.1_RNA|AC083906.2_ENST00000578837.1_RNA																							AGTGGCCTGGACCTGCCCATG	0.592																																						dbGAP											0													36.0	30.0	32.0					3																	129814940		692	1591	2283	-	-	-			0																															3.37:g.129814940A>G				RNA	SNP	-	NULL	ENST00000514010.1	37	NULL		3																																																																																			RP11-93K22.11	-	-	ENSG00000251287		0.592	RP11-93K22.13-001	KNOWN	basic	lincRNA	ENSG00000251287	Clone_based_vega_gene	lincRNA	OTTHUMT00000358040.1	165	0.60	1	A			129814940	129814940	+1	no_errors	ENST00000503500	ensembl	human	known	69_37n	rna	73	11.96	11	SNP	1.000	G
COQ10A	93058	genome.wustl.edu	37	12	56661868	56661868	+	Intron	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:56661868T>C	ENST00000308197.5	+	2	542				COQ10A_ENST00000546544.1_Intron|COQ10A_ENST00000433805.2_Intron|RP11-977G19.14_ENST00000546464.1_RNA	NM_144576.3	NP_653177.3	Q96MF6	CQ10A_HUMAN	coenzyme Q10 homolog A (S. cerevisiae)							mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	8						TCCTCAGTCCTCCCCTGCCAC	0.493																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK057003	CCDS41796.1, CCDS44921.1	12q13.3	2011-09-16	2006-04-04		ENSG00000135469	ENSG00000135469			26515	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog A (yeast)"""				Standard	NM_144576		Approved	FLJ32452	uc001sko.4	Q96MF6	OTTHUMG00000170283	ENST00000308197.5:c.281+144T>C	12.37:g.56661868T>C			Q6GMR6|Q6UWB9|Q86X16|Q8TAL2|Q96MF1|Q9BUP4	RNA	SNP	-	NULL	ENST00000308197.5	37	NULL	CCDS41796.1	12																																																																																			RP11-977G19.14	-	-	ENSG00000258260		0.493	COQ10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258260	Clone_based_vega_gene	protein_coding	OTTHUMT00000408332.1	28	0.00	0	T	NM_144576		56661868	56661868	-1	no_errors	ENST00000546464	ensembl	human	known	69_37n	rna	12	43.48	10	SNP	0.000	C
STRIP1	85369	genome.wustl.edu	37	1	110592936	110592936	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:110592936T>G	ENST00000369795.3	+	18	1911				STRIP1_ENST00000369796.1_Intron	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1						cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											TTGCTCATGGTGGGCATCTGG	0.587																																						dbGAP											0													91.0	71.0	77.0					1																	110592936		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1890-29T>G	1.37:g.110592936T>G			Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	RNA	SNP	-	NULL	ENST00000369795.3	37	NULL	CCDS30798.1	1																																																																																			RP4-773N10.5	-	-	ENSG00000258686		0.587	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258686	Clone_based_vega_gene	protein_coding	OTTHUMT00000032213.1	137	0.72	1	T	NM_033088		110592936	110592936	+1	no_errors	ENST00000473429	ensembl	human	known	69_37n	rna	148	11.38	19	SNP	0.001	G
ICAM1	3383	genome.wustl.edu	37	19	10395732	10395732	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:10395732T>G	ENST00000264832.3	+	6	1751				ICAM4_ENST00000340992.4_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000393717.2_5'Flank|ICAM1_ENST00000423829.2_Intron|ICAM4_ENST00000380770.3_5'Flank|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1						adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CAGAGCTGGGTGGGGGCAGGG	0.627																																						dbGAP											0													62.0	67.0	65.0					19																	10395732		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.1426+28T>G	19.37:g.10395732T>G			B2R6M3|Q5NKV7|Q96B50	RNA	SNP	-	NULL	ENST00000264832.3	37	NULL	CCDS12231.1	19																																																																																			CTD-2369P2.5	-	-	ENSG00000266978		0.627	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266978	Clone_based_vega_gene	protein_coding	OTTHUMT00000451207.1	100	0.00	0	T			10395732	10395732	-1	no_errors	ENST00000592893	ensembl	human	known	69_37n	rna	77	22.77	23	SNP	0.000	G
ENTPD6	955	genome.wustl.edu	37	20	25203432	25203432	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:25203432T>G	ENST00000376652.4	+	12	1208				ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000354989.5_Intron|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000360031.2_Intron			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)						response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GAGGCCTGGGTGCTCGGAGCC	0.607																																						dbGAP											0													61.0	57.0	58.0					20																	25203432		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1046-42T>G	20.37:g.25203432T>G			A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	RNA	SNP	-	NULL	ENST00000376652.4	37	NULL	CCDS13170.1	20																																																																																			ENTPD6	-	-	ENSG00000197586		0.607	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENTPD6	HGNC	protein_coding	OTTHUMT00000078414.2	81	0.00	0	T			25203432	25203432	+1	no_errors	ENST00000485936	ensembl	human	known	69_37n	rna	38	22.45	11	SNP	0.000	G
ENTPD7	57089	genome.wustl.edu	37	10	101464355	101464355	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:101464355A>C	ENST00000370489.4	+	13	1908	c.1730A>C	c.(1729-1731)cAc>cCc	p.H577P	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	577						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)		CGAATTCACCACCGACAAACA	0.547																																						dbGAP											0													104.0	85.0	91.0					10																	101464355		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.1730A>C	10.37:g.101464355A>C	ENSP00000359520:p.His577Pro		B2RB83|B3KP21|D3DR64	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.H577P	ENST00000370489.4	37	c.1730	CCDS7480.1	10	.	.	.	.	.	.	.	.	.	.	A	12.45	1.942079	0.34283	.	.	ENSG00000198018	ENST00000370489	T	0.13657	2.57	4.9	2.53	0.30540	.	0.194059	0.44285	D	0.000476	T	0.08758	0.0217	N	0.22421	0.69	0.80722	D	1	B	0.18461	0.028	B	0.19148	0.024	T	0.14309	-1.0477	10	0.54805	T	0.06	-14.435	7.4273	0.27107	0.6525:0.0:0.3475:0.0	.	577	Q9NQZ7	ENTP7_HUMAN	P	577	ENSP00000359520:H577P	ENSP00000359520:H577P	H	+	2	0	ENTPD7	101454345	0.970000	0.33590	1.000000	0.80357	0.979000	0.70002	1.073000	0.30691	0.922000	0.37019	0.459000	0.35465	CAC	ENTPD7	-	NULL	ENSG00000198018		0.547	ENTPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD7	HGNC	protein_coding	OTTHUMT00000049809.2	153	0.00	0	A	NM_020354		101464355	101464355	+1	no_errors	ENST00000370489	ensembl	human	known	69_37n	missense	91	23.77	29	SNP	0.980	C
EP300	2033	genome.wustl.edu	37	22	41573243	41573243	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:41573243A>C	ENST00000263253.7	+	31	6747	c.5528A>C	c.(5527-5529)cAg>cCg	p.Q1843P	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1843					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						GTGGTTGGGCAGCAACAGGGC	0.637			"""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													74.0	78.0	77.0					22																	41573243		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.5528A>C	22.37:g.41573243A>C	ENSP00000263253:p.Gln1843Pro		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.Q1843P	ENST00000263253.7	37	c.5528	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	A	0.019	-1.451611	0.01080	.	.	ENSG00000100393	ENST00000263253	D	0.82803	-1.65	5.48	5.48	0.80851	.	0.000000	0.46442	D	0.000298	T	0.68063	0.2960	N	0.25144	0.715	0.47547	D	0.999456	B	0.12013	0.005	B	0.09377	0.004	T	0.61623	-0.7025	10	0.02654	T	1	-5.8439	11.5502	0.50716	0.8507:0.1493:0.0:0.0	.	1843	Q09472	EP300_HUMAN	P	1843	ENSP00000263253:Q1843P	ENSP00000263253:Q1843P	Q	+	2	0	EP300	39903189	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	4.953000	0.63624	2.077000	0.62373	0.459000	0.35465	CAG	EP300	-	NULL	ENSG00000100393		0.637	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	78	0.00	0	A	NM_001429		41573243	41573243	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	1.000	C
EP400	57634	genome.wustl.edu	37	12	132502157	132502157	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:132502157A>C	ENST00000333577.4	+	21	4218	c.4109A>C	c.(4108-4110)cAc>cCc	p.H1370P	EP400_ENST00000330386.6_Missense_Mutation_p.H1334P|EP400_ENST00000389561.2_Missense_Mutation_p.H1334P|EP400_ENST00000332482.4_Missense_Mutation_p.H1297P|EP400_ENST00000389562.2_Missense_Mutation_p.H1333P			Q96L91	EP400_HUMAN	E1A binding protein p400	1370					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)		ATCTGCAACCACCCTGGGCTC	0.612																																						dbGAP											0													61.0	59.0	60.0					12																	132502157		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.4109A>C	12.37:g.132502157A>C	ENSP00000333602:p.His1370Pro		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.H1370P	ENST00000333577.4	37	c.4109		12	.	.	.	.	.	.	.	.	.	.	A	13.24	2.178508	0.38511	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.94092	0.8106	H	0.99855	4.85	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	D	0.96921	0.9674	10	0.87932	D	0	.	16.1224	0.81369	1.0:0.0:0.0:0.0	.	1334;1334;1333	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	P	1370;1334;1333;1297;1334;1334;1334	ENSP00000333602:H1370P;ENSP00000374212:H1334P;ENSP00000374213:H1333P;ENSP00000331737:H1297P;ENSP00000330620:H1334P	ENSP00000330620:H1334P	H	+	2	0	EP400	131068110	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	9.303000	0.96183	2.208000	0.71279	0.533000	0.62120	CAC	EP400	-	pfam_SNF2_N	ENSG00000183495		0.612	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		43	0.00	0	A	NM_015409		132502157	132502157	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	missense	25	23.53	8	SNP	1.000	C
EP400	57634	genome.wustl.edu	37	12	132514309	132514309	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:132514309A>C	ENST00000333577.4	+	29	5662	c.5553A>C	c.(5551-5553)ccA>ccC	p.P1851P	EP400_ENST00000389562.2_Silent_p.P1814P|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000332482.4_Silent_p.P1778P|EP400_ENST00000389561.2_Silent_p.P1815P|EP400_ENST00000330386.6_Silent_p.P1734P			Q96L91	EP400_HUMAN	E1A binding protein p400	1851					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)		CGCGGCCGCCACCCCTGTACA	0.647																																						dbGAP											0													30.0	32.0	31.0					12																	132514309		2202	4298	6500	-	-	-	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.5553A>C	12.37:g.132514309A>C			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.P1851	ENST00000333577.4	37	c.5553		12																																																																																			EP400	-	NULL	ENSG00000183495		0.647	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		62	0.00	0	A	NM_015409		132514309	132514309	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	silent	26	31.58	12	SNP	0.000	C
EP400	57634	genome.wustl.edu	37	12	132539697	132539697	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:132539697A>C	ENST00000333577.4	+	46	8045	c.7936A>C	c.(7936-7938)Acc>Ccc	p.T2646P	EP400_ENST00000330386.6_Missense_Mutation_p.T2529P|EP400_ENST00000389561.2_Missense_Mutation_p.T2610P|EP400_ENST00000332482.4_Missense_Mutation_p.T2573P|EP400_ENST00000389562.2_Missense_Mutation_p.T2609P			Q96L91	EP400_HUMAN	E1A binding protein p400	2646	Interaction with ZNF42. {ECO:0000250}.				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)		CCCAGCTGCCACCTTCCAGTC	0.607																																						dbGAP											0													49.0	39.0	43.0					12																	132539697		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.7936A>C	12.37:g.132539697A>C	ENSP00000333602:p.Thr2646Pro		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.T2646P	ENST00000333577.4	37	c.7936		12	.	.	.	.	.	.	.	.	.	.	A	12.36	1.913420	0.33815	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.66;-2.67	5.62	3.28	0.37604	.	0.100580	0.64402	D	0.000002	D	0.86952	0.6057	L	0.32530	0.975	0.32988	D	0.524554	P;P;P	0.42357	0.777;0.777;0.614	P;P;B	0.47603	0.551;0.551;0.442	D	0.85483	0.1180	10	0.27785	T	0.31	.	9.9808	0.41813	0.8626:0.0:0.1374:0.0	.	2610;2529;2609	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	P	2646;2610;2609;2573;2529;2610	ENSP00000333602:T2646P;ENSP00000374212:T2610P;ENSP00000374213:T2609P;ENSP00000331737:T2573P;ENSP00000330620:T2529P	ENSP00000330620:T2529P	T	+	1	0	EP400	131105650	1.000000	0.71417	0.996000	0.52242	0.364000	0.29643	5.218000	0.65257	0.422000	0.26005	-0.374000	0.07098	ACC	EP400	-	NULL	ENSG00000183495		0.607	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		131	0.75	1	A	NM_015409		132539697	132539697	+1	no_errors	ENST00000333577	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	1.000	C
EPS8L1	54869	genome.wustl.edu	37	19	55598951	55598951	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:55598951T>G	ENST00000201647.6	+	20	2197	c.2141T>G	c.(2140-2142)gTg>gGg	p.V714G	EPS8L1_ENST00000588359.1_Missense_Mutation_p.V400G|EPS8L1_ENST00000540810.1_Missense_Mutation_p.V650G|EPS8L1_ENST00000586329.1_Missense_Mutation_p.V539G|EPS8L1_ENST00000245618.5_Missense_Mutation_p.V587G	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	714					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		AAGAAGAAGGTGGAAGGCGAG	0.582																																					Ovarian(149;255 1863 3636 27051 29647)	dbGAP											0													147.0	142.0	144.0					19																	55598951		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.2141T>G	19.37:g.55598951T>G	ENSP00000201647:p.Val714Gly		Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.V714G	ENST00000201647.6	37	c.2141	CCDS12914.1	19	.	.	.	.	.	.	.	.	.	.	T	12.68	2.010159	0.35415	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.08546	3.29;3.1;3.08	3.41	3.41	0.39046	.	0.798076	0.10669	N	0.647757	T	0.13543	0.0328	L	0.61218	1.895	0.80722	D	1	P;B;B	0.43231	0.801;0.392;0.155	B;B;B	0.43018	0.405;0.181;0.088	T	0.05903	-1.0857	10	0.72032	D	0.01	-7.987	10.437	0.44441	0.0:0.0:0.0:1.0	.	493;587;714	Q8TE68-4;Q8TE68-2;Q8TE68	.;.;ES8L1_HUMAN	G	542;714;650;587;400	ENSP00000201647:V714G;ENSP00000437541:V650G;ENSP00000245618:V587G	ENSP00000201647:V714G	V	+	2	0	EPS8L1	60290763	1.000000	0.71417	0.997000	0.53966	0.445000	0.32107	3.002000	0.49496	1.515000	0.48885	0.260000	0.18958	GTG	EPS8L1	-	NULL	ENSG00000131037		0.582	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8L1	HGNC	protein_coding	OTTHUMT00000451713.1	218	0.46	1	T	NM_017729		55598951	55598951	+1	no_errors	ENST00000201647	ensembl	human	known	69_37n	missense	124	18.59	29	SNP	1.000	G
ERAL1	26284	genome.wustl.edu	37	17	27186250	27186250	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:27186250T>G	ENST00000254928.5	+	9	1237	c.1140T>G	c.(1138-1140)ggT>ggG	p.G380G	MIR144_ENST00000385059.1_lincRNA|MIR144_ENST00000384886.1_lincRNA|MIR144_ENST00000581873.1_lincRNA	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	380	KH type-2.				ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			AAGGACCAGGTGGGGAGCTGG	0.498																																						dbGAP											0													132.0	131.0	131.0					17																	27186250		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.1140T>G	17.37:g.27186250T>G			B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Silent	SNP	pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.G380	ENST00000254928.5	37	c.1140	CCDS11244.1	17																																																																																			ERAL1	-	superfamily_KH_prok-type	ENSG00000132591		0.498	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAL1	HGNC	protein_coding	OTTHUMT00000255937.2	315	0.32	1	T			27186250	27186250	+1	no_errors	ENST00000254928	ensembl	human	known	69_37n	silent	173	12.12	24	SNP	0.011	G
ERAP1	51752	genome.wustl.edu	37	5	96139334	96139334	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:96139334T>G	ENST00000443439.2	-	2	362	c.296A>C	c.(295-297)cAc>cCc	p.H99P	CTD-2260A17.3_ENST00000606656.1_RNA|CTD-2260A17.3_ENST00000606346.1_RNA|ERAP1_ENST00000296754.3_Missense_Mutation_p.H99P	NM_001040458.1|NM_001198541.1	NP_001035548.1|NP_001185470.1	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	99					angiogenesis (GO:0001525)|antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|fat cell differentiation (GO:0045444)|membrane protein ectodomain proteolysis (GO:0006509)|positive regulation of angiogenesis (GO:0045766)|regulation of blood pressure (GO:0008217)|regulation of innate immune response (GO:0045088)|response to bacterium (GO:0009617)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|interleukin-1, Type II receptor binding (GO:0005151)|interleukin-6 receptor binding (GO:0005138)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TATCTGCAGGTGGTGACTATG	0.552																																						dbGAP											0													182.0	182.0	182.0					5																	96139334		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011097	CCDS4085.1, CCDS47250.1	5q15	2014-04-07			ENSG00000164307	ENSG00000164307			18173	protein-coding gene	gene with protein product	"""aminopeptidase regulator of TNFR1 shedding"", ""adipocyte-derived leucine aminopeptidase"", ""puromycin-insensitive leucyl-specific aminopeptidase"""	606832				10220586, 12189246, 16286653	Standard	NM_001198541		Approved	ARTS-1, A-LAP, PILS-AP, KIAA0525, ERAAP1	uc003kml.3	Q9NZ08	OTTHUMG00000128721	ENST00000443439.2:c.296A>C	5.37:g.96139334T>G	ENSP00000406304:p.His99Pro		O60278|Q6UWY6|Q8NEL4|Q8TAD0|Q9UHF8|Q9UKY2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.H99P	ENST00000443439.2	37	c.296	CCDS47250.1	5	.	.	.	.	.	.	.	.	.	.	T	11.40	1.626208	0.28978	.	.	ENSG00000164307	ENST00000296754;ENST00000443439;ENST00000414384;ENST00000507154	T;T;T	0.04049	3.72;3.72;3.72	5.33	-9.18	0.00688	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.886638	0.10006	N	0.727847	T	0.04452	0.0122	L	0.33339	1.005	0.09310	N	1	B;B	0.26975	0.165;0.137	B;B	0.36808	0.233;0.225	T	0.38714	-0.9648	10	0.45353	T	0.12	.	10.3953	0.44196	0.0937:0.4756:0.0:0.4307	.	99;99	Q9NZ08;Q9NZ08-2	ERAP1_HUMAN;.	P	99	ENSP00000296754:H99P;ENSP00000406304:H99P;ENSP00000421697:H99P	ENSP00000296754:H99P	H	-	2	0	ERAP1	96165090	0.000000	0.05858	0.090000	0.20809	0.637000	0.38172	0.324000	0.19610	-2.069000	0.00882	-0.379000	0.06801	CAC	ERAP1	-	pfam_Peptidase_M1_N	ENSG00000164307		0.552	ERAP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000370699.1	269	0.74	2	T	NM_016442		96139334	96139334	-1	no_errors	ENST00000296754	ensembl	human	known	69_37n	missense	250	10.68	30	SNP	0.002	G
ESYT1	23344	genome.wustl.edu	37	12	56531112	56531112	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:56531112A>C	ENST00000394048.5	+	17	2157	c.1893A>C	c.(1891-1893)ccA>ccC	p.P631P	ESYT1_ENST00000541590.1_Silent_p.P641P|ESYT1_ENST00000267113.4_Silent_p.P641P	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	631					lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGATGCCCCACCTCGACCCT	0.542																																						dbGAP											0													127.0	119.0	122.0					12																	56531112		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.1893A>C	12.37:g.56531112A>C			A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting	p.P641	ENST00000394048.5	37	c.1923	CCDS8904.1	12																																																																																			ESYT1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000139641		0.542	ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ESYT1	HGNC	protein_coding	OTTHUMT00000407906.1	221	0.90	2	A	NM_015292		56531112	56531112	+1	no_errors	ENST00000267113	ensembl	human	known	69_37n	silent	145	16.48	29	SNP	0.984	C
ESYT3	83850	genome.wustl.edu	37	3	138178097	138178097	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:138178097T>G	ENST00000389567.4	+	5	834		c.e5+2		ESYT3_ENST00000289135.4_Splice_Site	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3						lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGGATCCAGGTGGGTGGAGCC	0.622																																						dbGAP											0													105.0	106.0	106.0					3																	138178097		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.648+2T>G	3.37:g.138178097T>G			A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Splice_Site	SNP	-	e5+2	ENST00000389567.4	37	c.648+2	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900471	0.72754	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5893	0.45300	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ESYT3	139660787	1.000000	0.71417	0.983000	0.44433	0.904000	0.53231	5.200000	0.65158	1.751000	0.51876	0.379000	0.24179	.	ESYT3	-	-	ENSG00000158220		0.622	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	179	0.55	1	T	NM_031913	Intron	138178097	138178097	+1	no_errors	ENST00000389567	ensembl	human	known	69_37n	splice_site	180	12.20	25	SNP	0.994	G
ETV5	2119	genome.wustl.edu	37	3	185774947	185774947	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:185774947T>G	ENST00000306376.5	-	11	1372	c.1126A>C	c.(1126-1128)Acc>Ccc	p.T376P	ETV5_ENST00000480706.1_5'UTR|ETV5_ENST00000537818.1_Missense_Mutation_p.T418P|ETV5_ENST00000434744.1_Missense_Mutation_p.T376P	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	376					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TCAAGAAGGGTGACCAGGAAC	0.552			T	"""TMPRSS2, SCL45A3"""	Prostate																																	dbGAP		Dom	yes		3	3q28	2119	ets variant gene 5		E	0													108.0	108.0	108.0					3																	185774947		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.1126A>C	3.37:g.185774947T>G	ENSP00000306894:p.Thr376Pro		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.T418P	ENST00000306376.5	37	c.1252	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	T	19.71	3.877804	0.72294	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.54675	0.56;0.56;0.56	5.69	5.69	0.88448	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	L	0.53249	1.67	0.50632	D	0.999882	D;D	0.76494	0.999;0.999	D;D	0.74348	0.98;0.983	T	0.67518	-0.5650	10	0.66056	D	0.02	.	9.4505	0.38723	0.0:0.0801:0.0:0.9199	.	376;418	P41161;B7Z7D7	ETV5_HUMAN;.	P	376;376;418	ENSP00000306894:T376P;ENSP00000413755:T376P;ENSP00000441737:T418P	ENSP00000306894:T376P	T	-	1	0	ETV5	187257641	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	2.380000	0.44327	2.173000	0.68751	0.533000	0.62120	ACC	ETV5	-	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	ENSG00000244405		0.552	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	249	0.80	2	T	NM_004454		185774947	185774947	-1	no_errors	ENST00000537818	ensembl	human	known	69_37n	missense	156	17.28	33	SNP	0.998	G
EVL	51466	genome.wustl.edu	37	14	100531785	100531785	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:100531785T>G	ENST00000402714.2	+	2	609				EVL_ENST00000555048.1_3'UTR|EVL_ENST00000392920.3_5'UTR|EVL_ENST00000544450.2_Intron|CTD-2376I20.1_ENST00000554245.1_RNA			Q9UI08	EVL_HUMAN	Enah/Vasp-like						actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CATAGGCTGGTGGGAGTACAG	0.507																																						dbGAP											0													33.0	35.0	35.0					14																	100531785		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.6-19239T>G	14.37:g.100531785T>G			A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	RNA	SNP	-	NULL	ENST00000402714.2	37	NULL		14																																																																																			EVL	-	-	ENSG00000196405		0.507	EVL-006	KNOWN	basic|appris_candidate	protein_coding	EVL	HGNC	protein_coding	OTTHUMT00000413958.1	91	0.00	0	T			100531785	100531785	+1	no_errors	ENST00000553771	ensembl	human	known	69_37n	rna	48	23.44	15	SNP	0.000	G
EVPL	2125	genome.wustl.edu	37	17	74005543	74005543	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:74005543A>C	ENST00000301607.3	-	22	3996	c.3743T>G	c.(3742-3744)gTg>gGg	p.V1248G	EVPL_ENST00000586740.1_Missense_Mutation_p.V1270G	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1248	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTTGTACTCCACCGTGGGCTT	0.652																																						dbGAP											0													103.0	83.0	90.0					17																	74005543		2203	4300	6503	-	-	-	SO:0001583	missense	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3743T>G	17.37:g.74005543A>C	ENSP00000301607:p.Val1248Gly		A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.V1248G	ENST00000301607.3	37	c.3743	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	A	21.3	4.133548	0.77662	.	.	ENSG00000167880	ENST00000301607	T	0.60299	0.2	5.2	5.2	0.72013	.	0.131649	0.50627	D	0.000111	T	0.76506	0.3997	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.66602	0.945;0.916	T	0.81079	-0.1095	10	0.87932	D	0	-40.4487	15.1157	0.72401	1.0:0.0:0.0:0.0	.	1270;1248	B7ZLH8;Q92817	.;EVPL_HUMAN	G	1248	ENSP00000301607:V1248G	ENSP00000301607:V1248G	V	-	2	0	EVPL	71517138	1.000000	0.71417	0.991000	0.47740	0.800000	0.45204	9.339000	0.96797	1.991000	0.58162	0.449000	0.29647	GTG	EVPL	-	superfamily_Ferritin/RR-like	ENSG00000167880		0.652	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	64	0.00	0	A	NM_001988		74005543	74005543	-1	no_errors	ENST00000301607	ensembl	human	known	69_37n	missense	28	21.62	8	SNP	1.000	C
EXOC4	60412	genome.wustl.edu	37	7	132937878	132937878	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:132937878T>G	ENST00000253861.4	+	1	50	c.21T>G	c.(19-21)ggT>ggG	p.G7G	EXOC4_ENST00000393161.2_Silent_p.G7G|EXOC4_ENST00000539845.1_5'Flank	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	7					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AAGCAGCTGGTGGGAAATACA	0.592																																						dbGAP											0													83.0	84.0	84.0					7																	132937878		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.21T>G	7.37:g.132937878T>G			E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Silent	SNP	pfam_Sec8_exocyst	p.G7	ENST00000253861.4	37	c.21	CCDS5829.1	7																																																																																			EXOC4	-	NULL	ENSG00000131558		0.592	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	161	0.61	1	T	NM_021807		132937878	132937878	+1	no_errors	ENST00000253861	ensembl	human	known	69_37n	silent	88	19.09	21	SNP	0.997	G
EXOC6B	23233	genome.wustl.edu	37	2	72742194	72742194	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:72742194A>C	ENST00000272427.6	-	9	1107	c.977T>G	c.(976-978)gTa>gGa	p.V326G	EXOC6B_ENST00000410104.1_Missense_Mutation_p.V326G	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	326					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						AGGTTGAAGTACCAAACGAGC	0.403																																						dbGAP											0													88.0	92.0	91.0					2																	72742194		1918	4111	6029	-	-	-	SO:0001583	missense	0			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.977T>G	2.37:g.72742194A>C	ENSP00000272427:p.Val326Gly		B8ZZY3	Missense_Mutation	SNP	pfam_Sec15,pirsf_Sec15	p.V326G	ENST00000272427.6	37	c.977	CCDS46333.1	2	.	.	.	.	.	.	.	.	.	.	A	23.2	4.388840	0.82902	.	.	ENSG00000144036	ENST00000272427;ENST00000410104;ENST00000290144	T;T	0.32272	1.46;1.46	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.58892	0.2154	M	0.86953	2.85	0.80722	D	1	D;D	0.65815	0.967;0.995	D;P	0.67231	0.95;0.905	T	0.66779	-0.5837	10	0.72032	D	0.01	.	13.7186	0.62712	1.0:0.0:0.0:0.0	.	326;326	Q9Y2D4;Q9Y2D4-2	EXC6B_HUMAN;.	G	326	ENSP00000272427:V326G;ENSP00000386698:V326G	ENSP00000272427:V326G	V	-	2	0	EXOC6B	72595702	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.163000	0.77524	2.102000	0.63906	0.528000	0.53228	GTA	EXOC6B	-	pirsf_Sec15	ENSG00000144036		0.403	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	177	0.00	0	A	XM_039570		72742194	72742194	-1	no_errors	ENST00000272427	ensembl	human	known	69_37n	missense	158	12.71	23	SNP	1.000	C
EXOSC9	5393	genome.wustl.edu	37	4	122734398	122734398	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:122734398T>G	ENST00000243498.5	+	9	945	c.837T>G	c.(835-837)ggT>ggG	p.G279G	EXOSC9_ENST00000512454.1_Silent_p.G263G|EXOSC9_ENST00000379663.3_Silent_p.G279G|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	279					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GGAAAGAAGGTGGAAAGTTTG	0.398																																						dbGAP											0													81.0	92.0	88.0					4																	122734398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.837T>G	4.37:g.122734398T>G			Q12883|Q4W5P5|Q86Y41|Q86Y48	Silent	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.G279	ENST00000243498.5	37	c.837	CCDS3722.2	4																																																																																			EXOSC9	-	NULL	ENSG00000123737		0.398	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC9	HGNC	protein_coding	OTTHUMT00000250708.2	301	0.33	1	T	NM_005033		122734398	122734398	+1	no_errors	ENST00000379663	ensembl	human	known	69_37n	silent	209	13.52	33	SNP	0.998	G
EYA2	2139	genome.wustl.edu	37	20	45633615	45633615	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:45633615A>C	ENST00000327619.5	+	4	564	c.190A>C	c.(190-192)Aca>Cca	p.T64P	EYA2_ENST00000317304.6_Missense_Mutation_p.T64P|EYA2_ENST00000357410.3_Missense_Mutation_p.T64P	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	64					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCAGCCTTCCACAGCCATGGC	0.577																																					Pancreas(120;56 1725 18501 25218 43520)	dbGAP											0													82.0	85.0	84.0					20																	45633615		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.190A>C	20.37:g.45633615A>C	ENSP00000333640:p.Thr64Pro		Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.T64P	ENST00000327619.5	37	c.190	CCDS13403.1	20	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804833	0.31961	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.91631	-2.88;-2.47;-2.78;-0.65	5.53	-11.1	0.00147	.	1.183510	0.05818	N	0.615194	T	0.71986	0.3405	N	0.02539	-0.55	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.64145	-0.6476	10	0.31617	T	0.26	-30.4256	3.2348	0.06761	0.1102:0.4166:0.1869:0.2863	.	64;64;64;64	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	P	64;64;64;64;17	ENSP00000333640:T64P;ENSP00000349986:T64P;ENSP00000321590:T64P;ENSP00000395427:T17P	ENSP00000321590:T64P	T	+	1	0	EYA2	45067022	0.000000	0.05858	0.000000	0.03702	0.578000	0.36192	-0.442000	0.06871	-2.466000	0.00533	0.459000	0.35465	ACA	EYA2	-	NULL	ENSG00000064655		0.577	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA2	HGNC	protein_coding	OTTHUMT00000080326.2	115	0.00	0	A	NM_005244		45633615	45633615	+1	no_errors	ENST00000327619	ensembl	human	known	69_37n	missense	117	13.87	19	SNP	0.000	C
EYA2	2139	genome.wustl.edu	37	20	45633692	45633692	+	Silent	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:45633692T>C	ENST00000327619.5	+	4	641	c.267T>C	c.(265-267)ccT>ccC	p.P89P	EYA2_ENST00000317304.6_Silent_p.P89P|EYA2_ENST00000357410.3_Silent_p.P89P	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	89					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CTTACCCACCTCCAGCACAAG	0.557																																					Pancreas(120;56 1725 18501 25218 43520)	dbGAP											0													83.0	75.0	77.0					20																	45633692		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.267T>C	20.37:g.45633692T>C			Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.P89	ENST00000327619.5	37	c.267	CCDS13403.1	20																																																																																			EYA2	-	NULL	ENSG00000064655		0.557	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA2	HGNC	protein_coding	OTTHUMT00000080326.2	110	0.89	1	T	NM_005244		45633692	45633692	+1	no_errors	ENST00000327619	ensembl	human	known	69_37n	silent	68	18.07	15	SNP	1.000	C
FAHD2B	151313	genome.wustl.edu	37	2	97751484	97751484	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:97751484T>G	ENST00000414820.1	-	6	907	c.637A>C	c.(637-639)Acc>Ccc	p.T213P	FAHD2B_ENST00000272610.3_Missense_Mutation_p.T213P|FAHD2B_ENST00000440566.2_Missense_Mutation_p.T213P|FAHD2B_ENST00000468548.1_5'Flank			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	213							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GGGCAGAAGGTGTCGAAGGTT	0.592																																						dbGAP											0													86.0	74.0	78.0					2																	97751484		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.637A>C	2.37:g.97751484T>G	ENSP00000410470:p.Thr213Pro		D3DXH7|Q8NDK1	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.T213P	ENST00000414820.1	37	c.637	CCDS2030.1	2	.	.	.	.	.	.	.	.	.	.	t	18.14	3.556979	0.65425	.	.	ENSG00000144199	ENST00000414820;ENST00000272610;ENST00000440566	D;D;D	0.95307	-3.67;-3.67;-3.67	0.624	0.624	0.17659	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.175206	0.49305	D	0.000156	D	0.97788	0.9274	H	0.97806	4.08	0.41978	D	0.990789	D	0.67145	0.996	D	0.64687	0.928	D	0.97752	1.0215	9	0.87932	D	0	.	.	.	.	.	213	Q6P2I3	FAH2B_HUMAN	P	213	ENSP00000410470:T213P;ENSP00000272610:T213P;ENSP00000444599:T213P	ENSP00000272610:T213P	T	-	1	0	FAHD2B	97115211	1.000000	0.71417	0.997000	0.53966	0.841000	0.47740	2.938000	0.48987	0.491000	0.27793	0.254000	0.18369	ACC	FAHD2B	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000144199		0.592	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1	159	0.62	1	T	NM_199336		97751484	97751484	-1	no_errors	ENST00000272610	ensembl	human	known	69_37n	missense	165	14.87	29	SNP	1.000	G
FAIM2	23017	genome.wustl.edu	37	12	50295019	50295019	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:50295019T>G	ENST00000320634.3	-	2	199	c.105A>C	c.(103-105)ccA>ccC	p.P35P	FAIM2_ENST00000550890.1_5'UTR	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	35					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CATAGGAGGGTGGGGCTGAGG	0.662																																						dbGAP											0													39.0	40.0	40.0					12																	50295019		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 2"""	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.105A>C	12.37:g.50295019T>G			A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Silent	SNP	pfam_Bax_inhibitor_1-related	p.P35	ENST00000320634.3	37	c.105	CCDS8791.1	12																																																																																			FAIM2	-	NULL	ENSG00000135472		0.662	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM2	HGNC	protein_coding	OTTHUMT00000405984.1	52	0.00	0	T	NM_012306		50295019	50295019	-1	no_errors	ENST00000320634	ensembl	human	known	69_37n	silent	26	21.21	7	SNP	0.795	G
FAM104B	90736	genome.wustl.edu	37	X	55187406	55187406	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:55187406A>C	ENST00000358460.4	-	1	174				FAM104B_ENST00000489298.1_5'UTR|FAM104B_ENST00000425133.2_Intron|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000477847.2_Splice_Site|FAM104B_ENST00000472571.2_Intron			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B											endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						CAACACTGTCACCTGCAGGTC	0.587																																						dbGAP											0													45.0	45.0	45.0					X																	55187406		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.20+163T>G	X.37:g.55187406A>C			A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Splice_Site	SNP	-	e1+2	ENST00000358460.4	37	c.11+2	CCDS35305.2	X	.	.	.	.	.	.	.	.	.	.	A	4.467	0.086534	0.08583	.	.	ENSG00000182518	ENST00000477847	.	.	.	1.76	0.556	0.17253	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3956	0.11362	0.5896:0.4104:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAM104B	55204131	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.018000	0.13422	0.090000	0.17273	0.242000	0.17961	.	FAM104B	-	-	ENSG00000182518		0.587	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM104B	HGNC	protein_coding	OTTHUMT00000056851.1	90	0.00	0	A	NM_138362		55187406	55187406	-1	no_errors	ENST00000477847	ensembl	human	putative	69_37n	splice_site	56	23.29	17	SNP	0.001	C
FAM120AOS	158293	genome.wustl.edu	37	9	96212843	96212843	+	Missense_Mutation	SNP	A	A	C	rs77711372		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:96212843A>C	ENST00000375412.5	-	2	1484	c.602T>G	c.(601-603)gTg>gGg	p.V201G	FAM120A_ENST00000277165.6_5'Flank|FAM120A_ENST00000340893.4_5'Flank|FAM120AOS_ENST00000479094.1_5'UTR|FAM120A_ENST00000333936.5_5'Flank|FAM120A_ENST00000375389.3_5'Flank|FAM120AOS_ENST00000423591.1_Missense_Mutation_p.V19G	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	201										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						CTGTCCGGCCACAGCCTGTCG	0.502																																						dbGAP											0													53.0	58.0	56.0					9																	96212843		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 10 opposite strand"""	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.602T>G	9.37:g.96212843A>C	ENSP00000364561:p.Val201Gly		A6NN20	Missense_Mutation	SNP	NULL	p.V201G	ENST00000375412.5	37	c.602	CCDS6705.1	9	.	.	.	.	.	.	.	.	.	.	A	5.291	0.239089	0.10023	.	.	ENSG00000188938	ENST00000423591;ENST00000375412;ENST00000375409;ENST00000428378	T;T;T	0.58506	0.37;1.08;0.33	1.02	-0.327	0.12694	.	.	.	.	.	T	0.28599	0.0708	N	0.08118	0	0.09310	N	1	P	0.47962	0.903	B	0.37508	0.252	T	0.20107	-1.0285	9	0.87932	D	0	.	3.1347	0.06435	0.7111:0.0:0.2889:0.0	.	201	Q5T036	F120S_HUMAN	G	19;201;18;18	ENSP00000414298:V19G;ENSP00000364561:V201G;ENSP00000416978:V18G	ENSP00000364558:V18G	V	-	2	0	FAM120AOS	95252664	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.191000	0.17076	-0.110000	0.12022	-0.441000	0.05720	GTG	FAM120AOS	-	NULL	ENSG00000188938		0.502	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120AOS	HGNC	protein_coding	OTTHUMT00000053154.1	140	0.00	0	A			96212843	96212843	-1	no_errors	ENST00000375412	ensembl	human	known	69_37n	missense	81	15.62	15	SNP	0.001	C
FAM120A	23196	genome.wustl.edu	37	9	96259763	96259763	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:96259763A>C	ENST00000277165.6	+	4	1009	c.815A>C	c.(814-816)cAc>cCc	p.H272P	FAM120A_ENST00000340893.4_Missense_Mutation_p.H272P|FAM120A_ENST00000333936.5_Missense_Mutation_p.H272P|FAM120A_ENST00000375389.3_Missense_Mutation_p.H272P	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	272						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTCCGGGCCCACCAGCTGGTC	0.498																																						dbGAP											0													155.0	133.0	141.0					9																	96259763		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.815A>C	9.37:g.96259763A>C	ENSP00000277165:p.His272Pro		A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	NULL	p.H272P	ENST00000277165.6	37	c.815	CCDS6706.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.4|23.4	4.415266|4.415266	0.83449|0.83449	.|.	.|.	ENSG00000048828|ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893|ENST00000446420	T;T;T;T|.	0.49432|.	0.78;0.78;0.78;0.78|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.69324|0.69324	0.3098|0.3098	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.76494|.	0.998;0.997;0.999;0.998|.	D;D;D;D|.	0.83275|.	0.984;0.994;0.996;0.964|.	T|T	0.68700|0.68700	-0.5339|-0.5339	10|5	0.66056|.	D|.	0.02|.	-14.4361|-14.4361	14.5867|14.5867	0.68331|0.68331	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	272;272;272;272|.	Q9NZB2-6;Q9NZB2-5;Q9NZB2;Q9NZB2-2|.	.;.;F120A_HUMAN;.|.	P|P	272|115	ENSP00000364538:H272P;ENSP00000277165:H272P;ENSP00000334918:H272P;ENSP00000344698:H272P|.	ENSP00000277165:H272P|.	H|T	+|+	2|1	0|0	FAM120A|FAM120A	95299584|95299584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.998000|8.998000	0.93550|0.93550	2.030000|2.030000	0.59900|0.59900	0.460000|0.460000	0.39030|0.39030	CAC|ACC	FAM120A	-	NULL	ENSG00000048828		0.498	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120A	HGNC	protein_coding	OTTHUMT00000053160.2	140	0.71	1	A	NM_014612		96259763	96259763	+1	no_errors	ENST00000333936	ensembl	human	known	69_37n	missense	160	16.23	31	SNP	1.000	C
AMER1	139285	genome.wustl.edu	37	X	63410060	63410060	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:63410060A>G	ENST00000330258.3	-	2	3379	c.3107T>C	c.(3106-3108)cTc>cCc	p.L1036P	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	1036	Pro-rich.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CTGTGGCTGGAGGTTATAGCA	0.592																																						dbGAP											67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											28.0	34.0	32.0					X																	63410060		2062	4179	6241	-	-	-	SO:0001583	missense	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.3107T>C	X.37:g.63410060A>G	ENSP00000329117:p.Leu1036Pro		A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.L1036P	ENST00000330258.3	37	c.3107	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	A	8.828	0.939124	0.18281	.	.	ENSG00000184675	ENST00000330258	T	0.51817	0.69	4.73	2.21	0.28008	.	.	.	.	.	T	0.27489	0.0675	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.20706	-1.0267	8	.	.	.	0.0021	2.89	0.05674	0.5541:0.0:0.2503:0.1957	.	1036	Q5JTC6	F123B_HUMAN	P	1036	ENSP00000329117:L1036P	.	L	-	2	0	FAM123B	63326785	0.534000	0.26362	0.028000	0.17463	0.122000	0.20287	0.831000	0.27476	0.137000	0.18759	0.430000	0.28490	CTC	FAM123B	-	NULL	ENSG00000184675		0.592	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	119	0.80	1	A	NM_152424		63410060	63410060	-1	no_errors	ENST00000330258	ensembl	human	known	69_37n	missense	58	20.27	15	SNP	0.001	G
FAM127B	26071	genome.wustl.edu	37	X	134185326	134185326	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:134185326T>G	ENST00000370775.2	-	0	879				FAM127B_ENST00000520964.1_5'UTR	NM_001078172.1	NP_001071640.1	Q9BWD3	F127B_HUMAN	family with sequence similarity 127, member B											breast(3)|endometrium(2)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;0.000127)					ACCTCCGAGGTGAGTCCACAT	0.592											OREG0019941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													252.0	188.0	207.0					X																	134185326		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			AL117556	CCDS43998.1	Xq26.3	2014-05-16			ENSG00000203950	ENSG00000203950			24514	protein-coding gene	gene with protein product						9403077, 15716091	Standard	NM_001078172		Approved	DKFZP564B147, MAR8A, CXX1b	uc004eyf.3	Q9BWD3	OTTHUMG00000022466	ENST00000370775.2:c.*471A>C	X.37:g.134185326T>G		1608	A2A2V9|Q8TBU2	RNA	SNP	-	NULL	ENST00000370775.2	37	NULL	CCDS43998.1	X																																																																																			FAM127B	-	-	ENSG00000203950		0.592	FAM127B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM127B	HGNC	protein_coding	OTTHUMT00000058393.2	239	0.82	2	T	NM_001078172		134185326	134185326	-1	no_errors	ENST00000518153	ensembl	human	known	69_37n	rna	210	17.83	46	SNP	0.002	G
FAM129C	199786	genome.wustl.edu	37	19	17662653	17662653	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:17662653T>G	ENST00000335393.4	+	16	1981				FAM129C_ENST00000332386.5_Silent_p.G634G|FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000599124.1_Silent_p.G567G|FAM129C_ENST00000601861.1_Intron|FAM129C_ENST00000600871.1_Silent_p.G552G|FAM129C_ENST00000599164.1_Silent_p.G603G|FAM129C_ENST00000352727.3_Silent_p.G598G	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CAGACTCTGGTGCCCAGATCC	0.493																																						dbGAP											0													46.0	52.0	50.0					19																	17662653		1893	4117	6010	-	-	-	SO:0001627	intron_variant	0			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1844-1469T>G	19.37:g.17662653T>G			B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Silent	SNP	smart_Pleckstrin_homology	p.G634	ENST00000335393.4	37	c.1902	CCDS12362.1	19																																																																																			FAM129C	-	NULL	ENSG00000167483		0.493	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM129C	HGNC	protein_coding	OTTHUMT00000464206.1	141	0.00	0	T	NM_173544		17662653	17662653	+1	no_errors	ENST00000332386	ensembl	human	known	69_37n	silent	74	14.94	13	SNP	0.000	G
FAM151A	338094	genome.wustl.edu	37	1	55088966	55088966	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:55088966T>G	ENST00000302250.2	-	1	263	c.103A>C	c.(103-105)Acc>Ccc	p.T35P	ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA|FAM151A_ENST00000371304.2_Missense_Mutation_p.T35P	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	35						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CGCCGCAGGGTGATGGCAAGG	0.567																																						dbGAP											0													165.0	124.0	138.0					1																	55088966		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.103A>C	1.37:g.55088966T>G	ENSP00000306888:p.Thr35Pro		Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Missense_Mutation	SNP	pfam_DUF2181	p.T35P	ENST00000302250.2	37	c.103	CCDS594.1	1	.	.	.	.	.	.	.	.	.	.	T	8.481	0.859731	0.17178	.	.	ENSG00000162391	ENST00000302250;ENST00000371304;ENST00000294370	T;T	0.10763	2.84;2.85	3.25	-0.495	0.12030	.	0.551617	0.15099	N	0.280615	T	0.06280	0.0162	L	0.39898	1.24	0.09310	N	1	P	0.39964	0.697	B	0.32465	0.146	T	0.28038	-1.0056	10	0.66056	D	0.02	-1.6603	2.3984	0.04395	0.2251:0.2501:0.0:0.5248	.	35	Q8WW52	F151A_HUMAN	P	35	ENSP00000306888:T35P;ENSP00000360353:T35P	ENSP00000294370:T35P	T	-	1	0	FAM151A	54861554	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.257000	0.18369	-0.108000	0.12066	-0.250000	0.11733	ACC	FAM151A	-	NULL	ENSG00000162391		0.567	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	106	0.92	1	T	NM_176782		55088966	55088966	-1	no_errors	ENST00000302250	ensembl	human	known	69_37n	missense	74	24.24	24	SNP	0.000	G
FAM170B	170370	genome.wustl.edu	37	10	50340148	50340148	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:50340148A>C	ENST00000311787.5	-	2	451	c.362T>G	c.(361-363)gTg>gGg	p.V121G	FAM170B-AS1_ENST00000442525.1_RNA|FAM170B-AS1_ENST00000435809.1_RNA|FAM170B-AS1_ENST00000443389.1_RNA	NM_001164484.1	NP_001157956.1	A6NMN3	F170B_HUMAN	family with sequence similarity 170, member B	121										central_nervous_system(1)|endometrium(1)|skin(1)	3						CTCCCAGGCCACAGCCACACC	0.622																																						dbGAP											0													28.0	30.0	29.0					10																	50340148		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS53536.1	10q11.23	2008-11-06	2008-06-12	2008-06-12	ENSG00000172538	ENSG00000172538			19736	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 73"""	C10orf73			Standard	NM_001164484		Approved	Em:AC084727.4	uc001jhj.3	A6NMN3	OTTHUMG00000018187	ENST00000311787.5:c.362T>G	10.37:g.50340148A>C	ENSP00000308292:p.Val121Gly		Q86WY6|Q8N6K8	Missense_Mutation	SNP	NULL	p.V121G	ENST00000311787.5	37	c.362	CCDS53536.1	10	.	.	.	.	.	.	.	.	.	.	A	17.25	3.340791	0.60963	.	.	ENSG00000172538	ENST00000311787	T	0.37915	1.17	5.79	5.79	0.91817	.	0.139197	0.33813	N	0.004538	T	0.56337	0.1978	M	0.64997	1.995	0.51482	D	0.999924	D	0.89917	1.0	D	0.77004	0.989	T	0.59473	-0.7448	10	0.87932	D	0	-40.1527	12.5692	0.56326	1.0:0.0:0.0:0.0	.	121	A6NMN3	F170B_HUMAN	G	121	ENSP00000308292:V121G	ENSP00000308292:V121G	V	-	2	0	FAM170B	50010154	0.992000	0.36948	0.993000	0.49108	0.366000	0.29705	3.070000	0.50033	2.216000	0.71823	0.529000	0.55759	GTG	FAM170B	-	NULL	ENSG00000172538		0.622	FAM170B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM170B	HGNC	protein_coding	OTTHUMT00000047974.1	55	0.00	0	A	XM_096317		50340148	50340148	-1	no_errors	ENST00000311787	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	0.995	C
FAM193B	54540	genome.wustl.edu	37	5	176951589	176951589	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:176951589A>C	ENST00000514747.1	-	6	1941	c.1893T>G	c.(1891-1893)ggT>ggG	p.G631G	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000329540.5_Silent_p.G257G|FAM193B_ENST00000443375.2_Silent_p.G598G	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	711						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						GTGGCTTCCCACCTGAGGACA	0.647																																						dbGAP											0													28.0	32.0	31.0					5																	176951589		2019	4186	6205	-	-	-	SO:0001819	synonymous_variant	0				CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1893T>G	5.37:g.176951589A>C			E9PET5|Q9NW00	Missense_Mutation	SNP	NULL	p.W317G	ENST00000514747.1	37	c.949	CCDS54954.1	5	.	.	.	.	.	.	.	.	.	.	A	7.222	0.597539	0.13875	.	.	ENSG00000146067	ENST00000524677	.	.	.	5.75	-0.828	0.10799	.	.	.	.	.	T	0.39886	0.1095	.	.	.	0.54753	D	0.999989	.	.	.	.	.	.	T	0.32561	-0.9902	4	.	.	.	-0.023	1.2097	0.01902	0.3799:0.2956:0.1439:0.1806	.	.	.	.	G	317	.	.	W	-	1	0	FAM193B	176884195	0.853000	0.29707	0.962000	0.40283	0.730000	0.41778	0.445000	0.21677	0.429000	0.26202	0.459000	0.35465	TGG	FAM193B	-	NULL	ENSG00000146067		0.647	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	HGNC	protein_coding	OTTHUMT00000373121.1	30	0.00	0	A	NM_019057		176951589	176951589	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000524677	ensembl	human	novel	69_37n	missense	19	28.57	8	SNP	0.517	C
ERICH6B	220081	genome.wustl.edu	37	13	46115689	46115689	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:46115689T>G	ENST00000298738.2	-	15	2163	c.1999A>C	c.(1999-2001)Acc>Ccc	p.T667P	FAM194B_ENST00000504261.1_Intron	NM_182542.2	NP_872348.2	Q5W0A0	ERI6B_HUMAN		667										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)	5						AGATCAGGGGTGGTCGCGTAA	0.498																																						dbGAP											0													154.0	140.0	144.0					13																	46115689		692	1591	2283	-	-	-	SO:0001583	missense	0																														ENST00000298738.2:c.1999A>C	13.37:g.46115689T>G	ENSP00000298738:p.Thr667Pro		Q96MB5	Missense_Mutation	SNP	NULL	p.T667P	ENST00000298738.2	37	c.1999	CCDS45045.1	13	.	.	.	.	.	.	.	.	.	.	T	10.99	1.506829	0.26949	.	.	ENSG00000165837	ENST00000298738	T	0.12255	2.7	4.62	-5.18	0.02840	.	.	.	.	.	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B	0.24317	0.101	B	0.22601	0.04	T	0.38436	-0.9661	9	0.87932	D	0	-2.7933	1.9223	0.03310	0.1507:0.3821:0.1544:0.3128	.	667	Q5W0A0	F194B_HUMAN	P	667	ENSP00000298738:T667P	ENSP00000298738:T667P	T	-	1	0	FAM194B	45013690	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.992000	0.03724	-0.692000	0.05128	-0.478000	0.04885	ACC	FAM194B	-	NULL	ENSG00000165837		0.498	FAM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194B	HGNC	protein_coding	OTTHUMT00000044781.3	201	0.00	0	T			46115689	46115689	-1	no_errors	ENST00000298738	ensembl	human	known	69_37n	missense	238	10.70	29	SNP	0.000	G
FAM207A	85395	genome.wustl.edu	37	21	46393062	46393062	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:46393062T>G	ENST00000291634.6	+	5	548				FAM207A_ENST00000479127.1_Intron|FAM207A_ENST00000397826.3_Intron	NM_058190.2	NP_478070.1	Q9NSI2	F207A_HUMAN	family with sequence similarity 207, member A																		CACGGGAAGGTGTTTAGGGGA	0.607																																						dbGAP											0													43.0	41.0	42.0					21																	46393062		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS13718.1	21q22.3	2011-08-15	2011-08-15	2011-08-15	ENSG00000160256	ENSG00000160256			15811	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 70"""	C21orf70			Standard	NM_058190		Approved	PRED56	uc002zgl.3	Q9NSI2	OTTHUMG00000090293	ENST00000291634.6:c.501-50T>G	21.37:g.46393062T>G				RNA	SNP	-	NULL	ENST00000291634.6	37	NULL	CCDS13718.1	21																																																																																			FAM207A	-	-	ENSG00000160256		0.607	FAM207A-002	KNOWN	basic|CCDS	protein_coding	FAM207A	HGNC	protein_coding	OTTHUMT00000206639.1	61	0.00	0	T	NM_058190		46393062	46393062	+1	no_errors	ENST00000485207	ensembl	human	putative	69_37n	rna	28	31.71	13	SNP	0.001	G
FAM3D	131177	genome.wustl.edu	37	3	58635054	58635054	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:58635054T>G	ENST00000358781.2	-	4	443	c.133A>C	c.(133-135)Acc>Ccc	p.T45P		NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D	45					negative regulation of insulin secretion (GO:0046676)	extracellular region (GO:0005576)	cytokine activity (GO:0005125)			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		ATCTCCTTGGTGGGCGAGGCT	0.627																																						dbGAP											0													90.0	84.0	86.0					3																	58635054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF494381	CCDS2893.1	3p21.1	2008-07-18			ENSG00000198643	ENSG00000198643			18665	protein-coding gene	gene with protein product		608619				12160727	Standard	NM_138805		Approved	EF7, OIT1	uc003dkq.3	Q96BQ1	OTTHUMG00000159148	ENST00000358781.2:c.133A>C	3.37:g.58635054T>G	ENSP00000351632:p.Thr45Pro		Q547G2	Missense_Mutation	SNP	NULL	p.T45P	ENST00000358781.2	37	c.133	CCDS2893.1	3	.	.	.	.	.	.	.	.	.	.	T	8.044	0.764557	0.15914	.	.	ENSG00000198643	ENST00000358781;ENST00000483787;ENST00000489857;ENST00000498347	T;T;T;T	0.54279	0.58;1.86;1.38;1.43	3.66	-7.32	0.01436	.	3.290730	0.01051	N	0.004463	T	0.25457	0.0619	N	0.04132	-0.27	0.09310	N	1	B	0.27117	0.168	B	0.23018	0.043	T	0.17561	-1.0365	10	0.44086	T	0.13	0.117	4.9461	0.13991	0.4842:0.0:0.1512:0.3646	.	45	Q96BQ1	FAM3D_HUMAN	P	45;44;8;45	ENSP00000351632:T45P;ENSP00000417099:T44P;ENSP00000417453:T8P;ENSP00000418982:T45P	ENSP00000351632:T45P	T	-	1	0	FAM3D	58610094	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-4.073000	0.00300	-1.954000	0.01025	-0.669000	0.03829	ACC	FAM3D	-	NULL	ENSG00000198643		0.627	FAM3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM3D	HGNC	protein_coding	OTTHUMT00000353494.1	175	0.00	0	T	NM_138805		58635054	58635054	-1	no_errors	ENST00000358781	ensembl	human	known	69_37n	missense	131	10.88	16	SNP	0.000	G
FAM46B	115572	genome.wustl.edu	37	1	27338992	27338992	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:27338992A>C	ENST00000289166.5	-	1	335	c.170T>G	c.(169-171)gTg>gGg	p.V57G		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	57										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CAGTCGCTTCACCTGTGGCCA	0.706																																						dbGAP											0													24.0	27.0	26.0					1																	27338992		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.170T>G	1.37:g.27338992A>C	ENSP00000289166:p.Val57Gly			Missense_Mutation	SNP	pfam_DUF1693	p.V57G	ENST00000289166.5	37	c.170	CCDS294.2	1	.	.	.	.	.	.	.	.	.	.	A	32	5.107011	0.94292	.	.	ENSG00000158246	ENST00000289166	T	0.26067	1.76	5.38	5.38	0.77491	Domain of unknown function DUF1693 (1);	0.119433	0.56097	D	0.000030	T	0.58018	0.2093	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66783	-0.5836	10	0.87932	D	0	-14.0907	15.2145	0.73254	1.0:0.0:0.0:0.0	.	57	Q96A09	FA46B_HUMAN	G	57	ENSP00000289166:V57G	ENSP00000289166:V57G	V	-	2	0	FAM46B	27211579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.722000	0.91452	2.260000	0.74910	0.533000	0.62120	GTG	FAM46B	-	pfam_DUF1693	ENSG00000158246		0.706	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	HGNC	protein_coding	OTTHUMT00000012347.2	39	0.00	0	A	NM_052943		27338992	27338992	-1	no_errors	ENST00000289166	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	C
FAM53C	51307	genome.wustl.edu	37	5	137680989	137680989	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:137680989A>C	ENST00000239906.5	+	4	1040	c.612A>C	c.(610-612)cgA>cgC	p.R204R	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Silent_p.R204R|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000507506.1_3'UTR	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	204										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATTCCTCTCGACCCTGCGCCG	0.622																																						dbGAP											0													155.0	172.0	166.0					5																	137680989		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.612A>C	5.37:g.137680989A>C			B2RDJ5|D3DQB9	Silent	SNP	NULL	p.R204	ENST00000239906.5	37	c.612	CCDS4204.1	5																																																																																			FAM53C	-	NULL	ENSG00000120709		0.622	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	HGNC	protein_coding	OTTHUMT00000251278.2	130	0.76	1	A	NM_016605		137680989	137680989	+1	no_errors	ENST00000239906	ensembl	human	known	69_37n	silent	91	14.81	16	SNP	0.999	C
GAREM	64762	genome.wustl.edu	37	18	29850214	29850214	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:29850214T>G	ENST00000269209.6	-	5	1702	c.1699A>C	c.(1699-1701)Acc>Ccc	p.T567P	GAREM_ENST00000399218.4_Missense_Mutation_p.T567P			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	567					cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TAGGACAAGGTGGGGCTGGGA	0.557																																						dbGAP											0													155.0	129.0	138.0					18																	29850214		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.1699A>C	18.37:g.29850214T>G	ENSP00000269209:p.Thr567Pro		Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	superfamily_SAM/pointed	p.T567P	ENST00000269209.6	37	c.1699	CCDS56057.1	18	.	.	.	.	.	.	.	.	.	.	T	26.7	4.764651	0.90020	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.54479	0.57;0.57	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.63943	0.2554	L	0.38175	1.15	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.953	T	0.67444	-0.5669	10	0.72032	D	0.01	-20.9931	15.0763	0.72080	0.0:0.0:0.0:1.0	.	567;567	Q9H706;Q9H706-3	FA59A_HUMAN;.	P	567	ENSP00000382165:T567P;ENSP00000269209:T567P	ENSP00000269209:T567P	T	-	1	0	FAM59A	28104212	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.625000	0.83145	1.948000	0.56530	0.529000	0.55759	ACC	FAM59A	-	NULL	ENSG00000141441		0.557	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM59A	HGNC	protein_coding	OTTHUMT00000255365.1	296	0.67	2	T	NM_022751		29850214	29850214	-1	no_errors	ENST00000269209	ensembl	human	known	69_37n	missense	239	13.04	36	SNP	1.000	G
FAM63A	55793	genome.wustl.edu	37	1	150972391	150972391	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:150972391A>C	ENST00000361936.5	-	7	1739	c.785T>G	c.(784-786)gTg>gGg	p.V262G	FAM63A_ENST00000361738.6_Missense_Mutation_p.V310G|FAM63A_ENST00000493834.2_Missense_Mutation_p.V167G|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000312210.5_Missense_Mutation_p.V120G	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	262						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|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)			GATCCTCTCCACCAGCTGGTT	0.488																																						dbGAP											0													171.0	122.0	139.0					1																	150972391		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.785T>G	1.37:g.150972391A>C	ENSP00000354814:p.Val262Gly		B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	pfam_DUF544	p.V310G	ENST00000361936.5	37	c.929	CCDS976.1	1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.536222	0.85812	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.52526	0.72;0.68;0.66;0.72	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.65450	0.2692	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	0.984;1.0	D;D	0.91635	0.943;0.999	T	0.72286	-0.4338	10	0.59425	D	0.04	-14.2815	12.0193	0.53333	1.0:0.0:0.0:0.0	.	310;262	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	G	120;262;310;167	ENSP00000310923:V120G;ENSP00000354814:V262G;ENSP00000354669:V310G;ENSP00000437174:V167G	ENSP00000310923:V120G	V	-	2	0	FAM63A	149239015	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	8.954000	0.93051	1.956000	0.56807	0.459000	0.35465	GTG	FAM63A	-	pfam_DUF544	ENSG00000143409		0.488	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	128	0.77	1	A	NM_018379		150972391	150972391	-1	no_errors	ENST00000361738	ensembl	human	known	69_37n	missense	219	13.78	35	SNP	1.000	C
TMEM255A	55026	genome.wustl.edu	37	X	119410811	119410811	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:119410811T>G	ENST00000309720.5	-	8	799	c.676A>C	c.(676-678)Acc>Ccc	p.T226P	TMEM255A_ENST00000371369.4_Missense_Mutation_p.T202P|TMEM255A_ENST00000440464.1_Intron|TMEM255A_ENST00000371352.1_Missense_Mutation_p.T62P	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	226						integral component of membrane (GO:0016021)											TTGAGGATGGTGGCAGACCAG	0.512																																						dbGAP											0													246.0	177.0	200.0					X																	119410811		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.676A>C	X.37:g.119410811T>G	ENSP00000310110:p.Thr226Pro		A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Missense_Mutation	SNP	NULL	p.T226P	ENST00000309720.5	37	c.676	CCDS14597.1	X	.	.	.	.	.	.	.	.	.	.	T	24.8	4.575666	0.86645	.	.	ENSG00000125355	ENST00000309720;ENST00000371369;ENST00000371352	T;T;T	0.51071	0.72;0.72;0.72	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.68677	0.3027	M	0.79258	2.445	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.994;0.999	T	0.73113	-0.4085	10	0.72032	D	0.01	-17.2256	13.3151	0.60403	0.0:0.0:0.0:1.0	.	202;226	B1APR4;Q5JRV8	.;FA70A_HUMAN	P	226;202;62	ENSP00000310110:T226P;ENSP00000360420:T202P;ENSP00000360403:T62P	ENSP00000310110:T226P	T	-	1	0	FAM70A	119294839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.983000	0.70540	1.737000	0.51674	0.481000	0.45027	ACC	FAM70A	-	NULL	ENSG00000125355		0.512	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM70A	HGNC	protein_coding	OTTHUMT00000058091.1	182	0.00	0	T	NM_017938		119410811	119410811	-1	no_errors	ENST00000309720	ensembl	human	known	69_37n	missense	128	14.67	22	SNP	1.000	G
SPATA31D1	389763	genome.wustl.edu	37	9	84605967	84605967	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:84605967A>C	ENST00000344803.2	+	4	629	c.582A>C	c.(580-582)ccA>ccC	p.P194P		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	194	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGGCCTCTCCACCACCCCCCT	0.562																																						dbGAP											0													115.0	113.0	113.0					9																	84605967		1897	4129	6026	-	-	-	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.582A>C	9.37:g.84605967A>C				Silent	SNP	NULL	p.P194	ENST00000344803.2	37	c.582	CCDS47986.1	9																																																																																			FAM75D1	-	NULL	ENSG00000214929		0.562	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM75D1	HGNC	protein_coding	OTTHUMT00000402325.1	287	0.34	1	A	NM_001001670		84605967	84605967	+1	no_errors	ENST00000344803	ensembl	human	known	69_37n	silent	455	10.43	53	SNP	0.013	C
SPATA31B1P	404770	genome.wustl.edu	37	9	84676242	84676242	+	IGR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:84676242A>C								SPATA31D1 (66071 upstream) : RP11-15B24.5 (211428 downstream)																							GACCAAAGTCACCTTTGTCAA	0.602																																						dbGAP											0													91.0	97.0	95.0					9																	84676242		1930	4152	6082	-	-	-	SO:0001628	intergenic_variant	0																															9.37:g.84676242A>C				Silent	SNP	NULL	p.G61		37	c.183		9																																																																																			FAM75B	-	NULL	ENSG00000204561	0	0.602					FAM75B	HGNC			238	0.41	1	A			84676242	84676242	-1	no_errors	ENST00000376458	ensembl	human	known	69_37n	silent	167	11.98	23	SNP	0.004	C
FAM83C	128876	genome.wustl.edu	37	20	33875546	33875546	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:33875546T>G	ENST00000374408.3	-	4	1132	c.1036A>C	c.(1036-1038)Acc>Ccc	p.T346P	EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374443.3_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	346										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)			CTGAGGCTGGTGCTGGAGGGC	0.647																																						dbGAP											0													111.0	90.0	97.0					20																	33875546		2203	4300	6503	-	-	-	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.1036A>C	20.37:g.33875546T>G	ENSP00000363529:p.Thr346Pro		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	pfam_DUF1669	p.T346P	ENST00000374408.3	37	c.1036	CCDS13251.1	20	.	.	.	.	.	.	.	.	.	.	T	6.763	0.509656	0.12883	.	.	ENSG00000125998	ENST00000374408	T	0.06933	3.24	4.53	0.762	0.18454	.	0.642064	0.13614	N	0.374947	T	0.07188	0.0182	L	0.55213	1.73	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38672	-0.9650	10	0.22109	T	0.4	-4.3935	3.9475	0.09355	0.0:0.2802:0.1838:0.536	.	346	Q9BQN1	FA83C_HUMAN	P	346	ENSP00000363529:T346P	ENSP00000363529:T346P	T	-	1	0	FAM83C	33338960	0.457000	0.25752	0.966000	0.40874	0.547000	0.35210	0.476000	0.22180	0.360000	0.24265	0.459000	0.35465	ACC	FAM83C	-	NULL	ENSG00000125998		0.647	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83C	HGNC	protein_coding	OTTHUMT00000078854.3	233	0.43	1	T			33875546	33875546	-1	no_errors	ENST00000374408	ensembl	human	known	69_37n	missense	125	16.11	24	SNP	0.125	G
FAM98A	25940	genome.wustl.edu	37	2	33810293	33810293	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:33810293A>C	ENST00000238823.8	-	8	1247	c.1107T>G	c.(1105-1107)ggT>ggG	p.G369G	FAM98A_ENST00000441530.2_Silent_p.G174G|FAM98A_ENST00000498340.1_5'Flank|FAM98A_ENST00000403368.1_3'UTR			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	370	Gly-rich.						poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CCCCTCGGCCACCATGGTCAT	0.567																																						dbGAP											0													192.0	157.0	169.0					2																	33810293		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.1107T>G	2.37:g.33810293A>C			B2RNA2|Q9Y3Y6	Silent	SNP	pfam_Uncharacterised_FAM98	p.G369	ENST00000238823.8	37	c.1107	CCDS33179.1	2																																																																																			FAM98A	-	NULL	ENSG00000119812		0.567	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	235	0.42	1	A	NM_015475		33810293	33810293	-1	no_errors	ENST00000238823	ensembl	human	known	69_37n	silent	313	13.06	47	SNP	0.904	C
FAN1	22909	genome.wustl.edu	37	15	31229326	31229326	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:31229326T>G	ENST00000362065.4	+	14	3212	c.2921T>G	c.(2920-2922)gTg>gGg	p.V974G		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	974	VRR-NUC.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TTCCAGCTGGTGGAAGTTAAA	0.403								Direct reversal of damage																														dbGAP											0													74.0	76.0	75.0					15																	31229326		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2921T>G	15.37:g.31229326T>G	ENSP00000354497:p.Val974Gly		A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.V974G	ENST00000362065.4	37	c.2921	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331654	0.81690	.	.	ENSG00000198690	ENST00000362065	D	0.90324	-2.65	5.21	5.21	0.72293	VRR-NUC (1);	0.070662	0.56097	D	0.000027	D	0.95424	0.8514	M	0.82517	2.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.96075	0.9049	10	0.87932	D	0	-21.139	15.3796	0.74645	0.0:0.0:0.0:1.0	.	974;974	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	G	974	ENSP00000354497:V974G	ENSP00000354497:V974G	V	+	2	0	FAN1	29016618	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.716000	0.84723	2.090000	0.63153	0.459000	0.35465	GTG	FAN1	-	pfam_VRR_NUC	ENSG00000198690		0.403	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	117	0.00	0	T	NM_014967		31229326	31229326	+1	no_errors	ENST00000362065	ensembl	human	known	69_37n	missense	131	10.27	15	SNP	1.000	G
FAM98B	283742	genome.wustl.edu	37	15	38776776	38776776	+	IGR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:38776776T>G	ENST00000491535.1	+	0	3111				FAM98B_ENST00000397609.2_Silent_p.G406G	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B							cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		GGGGCTATGGTGGAAGAGGCT	0.532																																						dbGAP											0													29.0	30.0	30.0					15																	38776776		1575	3476	5051	-	-	-	SO:0001628	intergenic_variant	0				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831		15.37:g.38776776T>G			A8MUW5|Q8N935	Silent	SNP	pfam_Uncharacterised_FAM98	p.G406	ENST00000491535.1	37	c.1218	CCDS42015.1	15																																																																																			FAM98B	-	NULL	ENSG00000171262		0.532	FAM98B-002	KNOWN	basic|CCDS	protein_coding	FAM98B	HGNC	protein_coding	OTTHUMT00000252071.2	121	0.00	0	T	NM_173611		38776776	38776776	+1	no_errors	ENST00000397609	ensembl	human	known	69_37n	silent	63	21.25	17	SNP	1.000	G
FANCG	2189	genome.wustl.edu	37	9	35075528	35075528	+	Missense_Mutation	SNP	T	T	G	rs587778345|rs148808709	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:35075528T>G	ENST00000378643.3	-	10	1858	c.1367A>C	c.(1366-1368)cAc>cCc	p.H456P	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	456					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGAAGCAGGTGGGTGGCAGA	0.577			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														dbGAP	yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Fanconi anemia, complementation group G"""		L	0													109.0	127.0	121.0					9																	35075528		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1367A>C	9.37:g.35075528T>G	ENSP00000367910:p.His456Pro			Missense_Mutation	SNP	superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat	p.H456P	ENST00000378643.3	37	c.1367	CCDS6574.1	9	.	.	.	.	.	.	.	.	.	.	T	16.94	3.261837	0.59431	.	.	ENSG00000221829	ENST00000378643	T	0.19105	2.17	5.59	5.59	0.84812	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.29389	0.0732	L	0.59436	1.845	0.45272	D	0.99827	P	0.51791	0.948	P	0.47470	0.548	T	0.03933	-1.0991	9	0.72032	D	0.01	-0.1646	13.1417	0.59438	0.0:0.0:0.0:1.0	.	456	O15287	FANCG_HUMAN	P	456	ENSP00000367910:H456P	ENSP00000367910:H456P	H	-	2	0	FANCG	35065528	1.000000	0.71417	0.714000	0.30535	0.993000	0.82548	5.490000	0.66881	2.132000	0.65825	0.528000	0.53228	CAC	FANCG	-	NULL	ENSG00000221829		0.577	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCG	HGNC	protein_coding	OTTHUMT00000052269.1	212	0.00	0	T	NM_004629		35075528	35075528	-1	no_errors	ENST00000378643	ensembl	human	known	69_37n	missense	208	14.34	35	SNP	0.992	G
FANCC	2176	genome.wustl.edu	37	9	97869415	97869415	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:97869415T>G	ENST00000289081.3	-	14	1720	c.1466A>C	c.(1465-1467)cAc>cCc	p.H489P	FANCC_ENST00000375305.1_Missense_Mutation_p.H489P	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	489					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GAGGAGAAGGTGCCTGATCAG	0.587			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""Fanconi anemia, complementation group C"""		L	0													264.0	211.0	229.0					9																	97869415		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.1466A>C	9.37:g.97869415T>G	ENSP00000289081:p.His489Pro		B1ALR8	Missense_Mutation	SNP	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	p.H489P	ENST00000289081.3	37	c.1466	CCDS35071.1	9	.	.	.	.	.	.	.	.	.	.	T	8.662	0.900839	0.17686	.	.	ENSG00000158169	ENST00000289081;ENST00000375305	T;T	0.53423	0.62;0.62	4.8	0.58	0.17402	.	0.455288	0.23668	N	0.045751	T	0.40222	0.1108	L	0.29908	0.895	0.27386	N	0.955266	D	0.57257	0.979	P	0.52159	0.691	T	0.27606	-1.0069	10	0.62326	D	0.03	-0.0338	6.3334	0.21282	0.0:0.389:0.0:0.611	.	489	Q00597	FANCC_HUMAN	P	489	ENSP00000289081:H489P;ENSP00000364454:H489P	ENSP00000289081:H489P	H	-	2	0	FANCC	96909236	0.006000	0.16342	0.077000	0.20336	0.147000	0.21601	-0.930000	0.03972	0.220000	0.20860	-0.242000	0.12053	CAC	FANCC	-	pfam_Fanconi,pirsf_Fanconi,prints_Fanconi	ENSG00000158169		0.587	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCC	HGNC	protein_coding	OTTHUMT00000053219.1	346	0.57	2	T	NM_000136		97869415	97869415	-1	no_errors	ENST00000289081	ensembl	human	known	69_37n	missense	270	10.46	32	SNP	0.667	G
FASN	2194	genome.wustl.edu	37	17	80042179	80042179	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:80042179A>C	ENST00000306749.2	-	28	5068	c.4850T>G	c.(4849-4851)gTg>gGg	p.V1617G	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1617					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTTGGCAGGCACCAGTCCCAT	0.647																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0													68.0	61.0	63.0					17																	80042179		2195	4291	6486	-	-	-	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4850T>G	17.37:g.80042179A>C	ENSP00000304592:p.Val1617Gly		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.V1617G	ENST00000306749.2	37	c.4850	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	A	19.53	3.844360	0.71488	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.29397	1.57	4.66	4.66	0.58398	GroES-like (1);Polyketide synthase, enoylreductase (1);	0.244421	0.33040	N	0.005343	T	0.46795	0.1411	L	0.50993	1.605	0.80722	D	1	D	0.69078	0.997	D	0.63381	0.914	T	0.49011	-0.8983	10	0.87932	D	0	-32.8689	14.0844	0.64947	1.0:0.0:0.0:0.0	.	1617	P49327	FAS_HUMAN	G	1617;582	ENSP00000304592:V1617G	ENSP00000304592:V1617G	V	-	2	0	FASN	77635468	1.000000	0.71417	0.963000	0.40424	0.663000	0.39108	8.953000	0.93041	1.730000	0.51580	0.402000	0.26972	GTG	FASN	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000169710		0.647	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	78	0.00	0	A	NM_004104		80042179	80042179	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	1.000	C
FAT2	2196	genome.wustl.edu	37	5	150934068	150934068	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:150934068A>C	ENST00000261800.5	-	4	3812	c.3800T>G	c.(3799-3801)gTg>gGg	p.V1267G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1267	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCTGAAGCCACCAGCCTGTA	0.547																																						dbGAP											0													141.0	123.0	129.0					5																	150934068		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3800T>G	5.37:g.150934068A>C	ENSP00000261800:p.Val1267Gly		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.V1267G	ENST00000261800.5	37	c.3800	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532584	0.85812	.	.	ENSG00000086570	ENST00000261800	T	0.01787	4.64	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.120124	0.38005	N	0.001852	T	0.08133	0.0203	M	0.67569	2.06	0.80722	D	1	D	0.63880	0.993	D	0.67103	0.949	T	0.40572	-0.9556	10	0.27082	T	0.32	.	15.019	0.71613	1.0:0.0:0.0:0.0	.	1267	Q9NYQ8	FAT2_HUMAN	G	1267	ENSP00000261800:V1267G	ENSP00000261800:V1267G	V	-	2	0	FAT2	150914261	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.832000	0.92079	2.191000	0.70037	0.533000	0.62120	GTG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.547	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	121	0.82	1	A	NM_001447		150934068	150934068	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	79	21.57	22	SNP	1.000	C
FAT2	2196	genome.wustl.edu	37	5	150943058	150943058	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:150943058T>G	ENST00000261800.5	-	2	3414	c.3402A>C	c.(3400-3402)ccA>ccC	p.P1134P		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1134	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATCTGGGGTGGGTTGTCAT	0.552																																						dbGAP											0													122.0	106.0	111.0					5																	150943058		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.3402A>C	5.37:g.150943058T>G			O75091|Q9NSR7	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P1134	ENST00000261800.5	37	c.3402	CCDS4317.1	5																																																																																			FAT2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.552	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	121	0.00	0	T	NM_001447		150943058	150943058	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	silent	88	12.87	13	SNP	0.951	G
FBL	2091	genome.wustl.edu	37	19	40327237	40327237	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:40327237T>G	ENST00000221801.3	-	7	867	c.754A>C	c.(754-756)Acc>Ccc	p.T252P	FBL_ENST00000593503.1_5'UTR|DYRK1B_ENST00000430012.2_5'Flank|DYRK1B_ENST00000348817.3_5'Flank|DYRK1B_ENST00000593685.1_5'Flank|DYRK1B_ENST00000323039.5_5'Flank|DYRK1B_ENST00000601972.1_5'Flank	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	252					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CGCAGGAAGGTGTGGGCATTC	0.507																																						dbGAP											0													118.0	94.0	102.0					19																	40327237		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.754A>C	19.37:g.40327237T>G	ENSP00000221801:p.Thr252Pro		B5BUE8|O75259|Q6IAT5|Q9UPI6	Missense_Mutation	SNP	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	p.T252P	ENST00000221801.3	37	c.754	CCDS12545.1	19	.	.	.	.	.	.	.	.	.	.	T	16.12	3.034231	0.54896	.	.	ENSG00000105202	ENST00000221801	.	.	.	4.64	4.64	0.57946	.	0.047717	0.85682	D	0.000000	T	0.56396	0.1982	L	0.58428	1.81	0.46028	D	0.998827	B;P	0.40302	0.197;0.712	B;B	0.41946	0.286;0.371	T	0.61083	-0.7134	9	0.56958	D	0.05	-18.2026	12.038	0.53435	0.0:0.0:0.0:1.0	.	191;252	Q96BS4;P22087	.;FBRL_HUMAN	P	252	.	ENSP00000221801:T252P	T	-	1	0	FBL	45019077	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	5.955000	0.70306	1.726000	0.51525	0.533000	0.62120	ACC	FBL	-	pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin	ENSG00000105202		0.507	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBL	HGNC	protein_coding	OTTHUMT00000462509.4	146	0.68	1	T	NM_001436		40327237	40327237	-1	no_errors	ENST00000221801	ensembl	human	known	69_37n	missense	153	12.07	21	SNP	1.000	G
FBRS	64319	genome.wustl.edu	37	16	30676228	30676228	+	5'UTR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:30676228A>C	ENST00000287468.5	+	0	253				FBRS_ENST00000568722.1_Intron|FBRS_ENST00000395073.2_5'UTR|FBRS_ENST00000356166.6_Missense_Mutation_p.H517P	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin											ovary(1)	1			Colorectal(24;0.103)			CTGCCACCCCACGGCCCCCAC	0.682																																						dbGAP											0													54.0	70.0	64.0					16																	30676228		2195	4297	6492	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.-11A>C	16.37:g.30676228A>C			B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	prints_AUTS2	p.H517P	ENST00000287468.5	37	c.1550		16	.	.	.	.	.	.	.	.	.	.	A	0.037	-1.300350	0.01364	.	.	ENSG00000156860	ENST00000356166	T	0.50001	0.76	4.19	4.19	0.49359	.	0.913373	0.08366	U	0.956931	T	0.25680	0.0625	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13442	-1.0509	7	0.02654	T	1	-3.3575	7.9369	0.29935	0.7911:0.2089:0.0:0.0	.	.	.	.	P	517	ENSP00000348489:H517P	ENSP00000348489:H517P	H	+	2	0	FBRS	30583729	0.918000	0.31147	0.998000	0.56505	0.995000	0.86356	1.532000	0.36029	1.886000	0.54624	0.482000	0.46254	CAC	FBRS	-	NULL	ENSG00000156860		0.682	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding		304	0.65	2	A	NM_022452		30676228	30676228	+1	no_errors	ENST00000356166	ensembl	human	known	69_37n	missense	493	10.31	57	SNP	0.999	C
FBXO17	115290	genome.wustl.edu	37	19	39439300	39439300	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:39439300T>C	ENST00000292852.4	-	3	709	c.368A>G	c.(367-369)gAg>gGg	p.E123G	FBXO17_ENST00000595329.1_Missense_Mutation_p.E123G|SARS2_ENST00000448145.2_5'UTR|CTC-360G5.8_ENST00000599996.1_Silent_p.G27G	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	123	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ATGCTCCACCTCCCAGCCTCT	0.582																																						dbGAP											0													67.0	61.0	63.0					19																	39439300		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.368A>G	19.37:g.39439300T>C	ENSP00000292852:p.Glu123Gly		Q96LQ4	Missense_Mutation	SNP	pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom	p.E123G	ENST00000292852.4	37	c.368	CCDS12526.1	19	.	.	.	.	.	.	.	.	.	.	T	16.99	3.273949	0.59649	.	.	ENSG00000104835	ENST00000392076;ENST00000292852	T	0.30448	1.53	4.66	3.62	0.41486	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.200101	0.32287	N	0.006320	T	0.35508	0.0934	L	0.35414	1.06	.	.	.	D	0.65815	0.995	D	0.64042	0.921	T	0.42649	-0.9439	9	0.25106	T	0.35	.	7.7983	0.29160	0.1859:0.0:0.0:0.8141	.	123	Q96EF6	FBX17_HUMAN	G	132;123	ENSP00000292852:E123G	ENSP00000292852:E123G	E	-	2	0	FBXO17	44131140	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.472000	0.35376	0.739000	0.32628	0.369000	0.22263	GAG	FBXO17	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000104835		0.582	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO17	HGNC	protein_coding	OTTHUMT00000463273.1	158	0.63	1	T	NM_024907		39439300	39439300	-1	no_errors	ENST00000292852	ensembl	human	known	69_37n	missense	109	16.15	21	SNP	1.000	C
FBXO18	84893	genome.wustl.edu	37	10	5948251	5948251	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:5948251A>C	ENST00000362091.4	+	3	524	c.409A>C	c.(409-411)Acc>Ccc	p.T137P	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Missense_Mutation_p.T188P|FBXO18_ENST00000470089.1_3'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	137					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGCTACCGGGACCAGCCGGTG	0.617																																						dbGAP											0													32.0	36.0	35.0					10																	5948251		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.409A>C	10.37:g.5948251A>C	ENSP00000355415:p.Thr137Pro		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.T188P	ENST00000362091.4	37	c.562	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	A	4.490	0.090771	0.08632	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.76	2.01	0.26516	.	0.609762	0.16446	N	0.214061	T	0.24392	0.0591	N	0.25647	0.755	0.18873	N	0.999983	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.13872	-1.0493	9	0.29301	T	0.29	-14.5975	4.2659	0.10763	0.6512:0.1727:0.1761:0.0	.	188;137;63	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	P	137;188	.	ENSP00000355415:T137P	T	+	1	0	FBXO18	5988257	0.001000	0.12720	0.201000	0.23476	0.001000	0.01503	-0.335000	0.07873	0.460000	0.27045	-0.290000	0.09829	ACC	FBXO18	-	NULL	ENSG00000134452		0.617	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	50	0.00	0	A	NM_032807		5948251	5948251	+1	no_errors	ENST00000379999	ensembl	human	known	69_37n	missense	19	28.57	8	SNP	0.013	C
FBXO24	26261	genome.wustl.edu	37	7	100190493	100190493	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:100190493A>C	ENST00000241071.6	+	5	968	c.646A>C	c.(646-648)Acc>Ccc	p.T216P	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.T202P|FBXO24_ENST00000360609.2_Missense_Mutation_p.T202P|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Missense_Mutation_p.T204P|FBXO24_ENST00000427939.2_Missense_Mutation_p.T254P	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	216					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGTGGGTACCACCAGCAGCCG	0.547																																						dbGAP											0													73.0	65.0	68.0					7																	100190493		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.646A>C	7.37:g.100190493A>C	ENSP00000241071:p.Thr216Pro		A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.T254P	ENST00000241071.6	37	c.760	CCDS5698.1	7	.	.	.	.	.	.	.	.	.	.	A	9.134	1.012143	0.19277	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.46819	2.46;0.86;0.86;2.45;2.45	5.74	1.53	0.23141	.	0.271361	0.31809	N	0.007035	T	0.21718	0.0523	N	0.08118	0	0.09310	N	0.999997	B;B;B;B	0.12013	0.001;0.001;0.001;0.005	B;B;B;B	0.13407	0.001;0.002;0.002;0.009	T	0.09207	-1.0685	10	0.49607	T	0.09	-15.2786	3.4926	0.07644	0.5087:0.1965:0.2948:0.0	.	204;254;216;202	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	P	216;202;202;204;254	ENSP00000241071:T216P;ENSP00000353821:T202P;ENSP00000419602:T202P;ENSP00000420239:T204P;ENSP00000416558:T254P	ENSP00000241071:T216P	T	+	1	0	FBXO24	100028429	0.298000	0.24417	0.027000	0.17364	0.155000	0.21991	1.470000	0.35354	1.014000	0.39417	0.456000	0.33151	ACC	FBXO24	-	NULL	ENSG00000106336		0.547	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	195	0.51	1	A			100190493	100190493	+1	no_errors	ENST00000427939	ensembl	human	known	69_37n	missense	79	17.71	17	SNP	0.043	C
FBXO31	79791	genome.wustl.edu	37	16	87377347	87377347	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:87377347A>C	ENST00000311635.7	-	4	526	c.514T>G	c.(514-516)Tgg>Ggg	p.W172G		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	172					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGTACATCCACCCGATGATG	0.622																																						dbGAP											0													101.0	91.0	94.0					16																	87377347		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.514T>G	16.37:g.87377347A>C	ENSP00000310841:p.Trp172Gly		Q5K680|Q8WYV1|Q96D73|Q9UFV4	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.W172G	ENST00000311635.7	37	c.514	CCDS32501.1	16	.	.	.	.	.	.	.	.	.	.	A	20.5	4.000419	0.74818	.	.	ENSG00000103264	ENST00000311635	T	0.71461	-0.57	5.33	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.69639	-0.5091	10	0.35671	T	0.21	-16.8132	11.0105	0.47659	0.9266:0.0:0.0734:0.0	.	172;64	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	G	172	ENSP00000310841:W172G	ENSP00000310841:W172G	W	-	1	0	FBXO31	85934848	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.125000	0.94402	0.870000	0.35726	0.533000	0.62120	TGG	FBXO31	-	NULL	ENSG00000103264		0.622	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO31	HGNC	protein_coding	OTTHUMT00000430799.2	110	0.89	1	A	NM_024735		87377347	87377347	-1	no_errors	ENST00000311635	ensembl	human	known	69_37n	missense	73	15.91	14	SNP	1.000	C
FCGBP	8857	genome.wustl.edu	37	19	40392455	40392455	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:40392455A>C	ENST00000221347.6	-	16	8056	c.8049T>G	c.(8047-8049)ggT>ggG	p.G2683G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2683						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTTTCAAGGGACCCTGGGGAT	0.572																																						dbGAP											0													36.0	38.0	38.0					19																	40392455		2198	4286	6484	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.8049T>G	19.37:g.40392455A>C			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.G2683	ENST00000221347.6	37	c.8049	CCDS12546.1	19																																																																																			FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000090920		0.572	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	127	0.00	0	A	NM_003890		40392455	40392455	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	88	18.52	20	SNP	0.001	C
FGD4	121512	genome.wustl.edu	37	12	32735053	32735053	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:32735053T>G	ENST00000427716.2	+	4	676	c.252T>G	c.(250-252)ggT>ggG	p.G84G	FGD4_ENST00000525053.1_Silent_p.G196G|FGD4_ENST00000534526.2_Silent_p.G221G|FGD4_ENST00000472289.1_Silent_p.G84G|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000546442.1_5'UTR|FGD4_ENST00000531134.1_Silent_p.G169G	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	84	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AGACTCAGGGTGCACAGACTT	0.493																																						dbGAP											0													139.0	122.0	128.0					12																	32735053		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.252T>G	12.37:g.32735053T>G			Q6ULS2|Q8TCP6	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.G84	ENST00000427716.2	37	c.252	CCDS8727.1	12																																																																																			FGD4	-	NULL	ENSG00000139132		0.493	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	HGNC	protein_coding	OTTHUMT00000268017.1	138	0.71	1	T	NM_139241		32735053	32735053	+1	no_errors	ENST00000427716	ensembl	human	known	69_37n	silent	86	20.00	22	SNP	0.022	G
FGF3	2248	genome.wustl.edu	37	11	69631164	69631164	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:69631164A>C	ENST00000334134.2	-	2	338	c.248T>G	c.(247-249)gTg>gGg	p.V83G		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	83					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CACAATGCCCACCTCCACTGC	0.627																																						dbGAP											0													135.0	115.0	122.0					11																	69631164		2200	4294	6494	-	-	-	SO:0001583	missense	0				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.248T>G	11.37:g.69631164A>C	ENSP00000334122:p.Val83Gly		Q0VG69	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.V83G	ENST00000334134.2	37	c.248	CCDS8195.1	11	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589554	0.86851	.	.	ENSG00000186895	ENST00000334134	D	0.82711	-1.64	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.87993	0.6318	L	0.52011	1.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87432	0.2389	9	.	.	.	.	14.4164	0.67153	1.0:0.0:0.0:0.0	.	83	P11487	FGF3_HUMAN	G	83	ENSP00000334122:V83G	.	V	-	2	0	FGF3	69340101	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.770000	0.91746	1.810000	0.52873	0.454000	0.30748	GTG	FGF3	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	ENSG00000186895		0.627	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	HGNC	protein_coding	OTTHUMT00000396835.1	151	0.65	1	A	NM_005247		69631164	69631164	-1	no_errors	ENST00000334134	ensembl	human	known	69_37n	missense	66	26.37	24	SNP	1.000	C
FHAD1	114827	genome.wustl.edu	37	1	15615981	15615981	+	Silent	SNP	A	A	C	rs574694413		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:15615981A>C	ENST00000375998.4	+	3	387	c.387A>C	c.(385-387)ccA>ccC	p.P129P	FHAD1_ENST00000358897.4_Silent_p.P129P|FHAD1_ENST00000375999.3_Silent_p.P129P|FHAD1_ENST00000417793.1_Silent_p.P129P			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	129	Pro-rich.									skin(1)|stomach(1)	2						AGGCCCCCCCACCATCACATA	0.657													A|||	1	0.000199681	0.0	0.0014	5008	,	,		15466	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													135.0	179.0	166.0					1																	15615981		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.387A>C	1.37:g.15615981A>C			Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	NULL	p.T104P	ENST00000375998.4	37	c.310		1	.	.	.	.	.	.	.	.	.	.	A	0.043	-1.277986	0.01410	.	.	ENSG00000142621	ENST00000433640	.	.	.	3.95	-7.91	0.01165	.	.	.	.	.	T	0.28134	0.0694	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.26121	-1.0112	4	.	.	.	2.0E-4	9.5417	0.39255	0.6781:0.0:0.1294:0.1925	.	.	.	.	P	104	.	.	T	+	1	0	FHAD1	15488568	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.562000	0.00920	-3.181000	0.00222	-1.874000	0.00550	ACC	FHAD1	-	NULL	ENSG00000142621		0.657	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	199	0.99	2	A	NM_052929		15615981	15615981	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000433640	ensembl	human	putative	69_37n	missense	148	16.38	29	SNP	0.000	C
FGGY	55277	genome.wustl.edu	37	1	60139738	60139738	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:60139738T>G	ENST00000303721.7	+	14	1619	c.1445T>G	c.(1444-1446)gTg>gGg	p.V482G	FGGY_ENST00000371212.1_Missense_Mutation_p.V394G|FGGY_ENST00000371218.4_Missense_Mutation_p.V506G|FGGY_ENST00000371210.1_Missense_Mutation_p.V183G	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	482					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCGCAAGAGGTGGAGTCCGTT	0.612																																						dbGAP											0													224.0	142.0	169.0					1																	60139738		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1445T>G	1.37:g.60139738T>G	ENSP00000305922:p.Val482Gly		B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel	p.V482G	ENST00000303721.7	37	c.1445	CCDS611.2	1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.743043	0.30865	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88	5.38	5.38	0.77491	Carbohydrate kinase, FGGY, C-terminal (1);	0.272199	0.36815	N	0.002400	D	0.86481	0.5943	L	0.39245	1.2	0.58432	D	0.999995	P;B;P;B	0.49185	0.458;0.003;0.92;0.003	B;B;P;B	0.55749	0.284;0.021;0.783;0.021	D	0.85268	0.1054	9	.	.	.	-17.9209	15.5609	0.76244	0.0:0.0:0.0:1.0	.	506;394;482;482	Q96C11-3;B1AK94;F2Z2V1;Q96C11	.;.;.;FGGY_HUMAN	G	506;482;394;183	ENSP00000360262:V506G;ENSP00000305922:V482G;ENSP00000360256:V394G;ENSP00000360254:V183G	.	V	+	2	0	FGGY	59912326	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.295000	0.51794	2.263000	0.75096	0.377000	0.23210	GTG	FGGY	-	pfam_Carb_kinase_FGGY_C,tigrfam_Carb_kinase_FGGY-rel	ENSG00000172456		0.612	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGGY	HGNC	protein_coding	OTTHUMT00000023210.2	236	0.42	1	T	NM_001113411		60139738	60139738	+1	no_errors	ENST00000303721	ensembl	human	known	69_37n	missense	210	13.52	33	SNP	1.000	G
FIGN	55137	genome.wustl.edu	37	2	164466228	164466228	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:164466228A>G	ENST00000333129.3	-	3	2428	c.2114T>C	c.(2113-2115)cTc>cCc	p.L705P	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	705					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CATGGCATGGAGGGGGCCCAC	0.512																																						dbGAP											0													48.0	53.0	52.0					2																	164466228		2007	4169	6176	-	-	-	SO:0001583	missense	0			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.2114T>C	2.37:g.164466228A>G	ENSP00000333836:p.Leu705Pro		B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.L705P	ENST00000333129.3	37	c.2114	CCDS2221.2	2	.	.	.	.	.	.	.	.	.	.	A	15.63	2.890873	0.52014	.	.	ENSG00000182263	ENST00000333129	D	0.99098	-5.42	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.99495	0.9820	H	0.94306	3.52	0.80722	D	1	D	0.60575	0.988	D	0.76071	0.987	D	0.98241	1.0488	10	0.87932	D	0	-5.6151	16.3083	0.82859	1.0:0.0:0.0:0.0	.	705	Q5HY92	FIGN_HUMAN	P	705	ENSP00000333836:L705P	ENSP00000333836:L705P	L	-	2	0	FIGN	164174474	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.518000	0.81795	2.250000	0.74265	0.455000	0.32223	CTC	FIGN	-	NULL	ENSG00000182263		0.512	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	80	0.00	0	A	NM_018086		164466228	164466228	-1	no_errors	ENST00000333129	ensembl	human	known	69_37n	missense	73	22.34	21	SNP	1.000	G
FLNA	2316	genome.wustl.edu	37	X	153595194	153595194	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:153595194A>C	ENST00000369850.3	-	6	1129	c.893T>G	c.(892-894)gTg>gGg	p.V298G	FLNA_ENST00000422373.1_Missense_Mutation_p.V298G|FLNA_ENST00000344736.4_Missense_Mutation_p.V298G|FLNA_ENST00000360319.4_Missense_Mutation_p.V298G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	298					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCGCTTCTTCACCATGTTGCC	0.652																																						dbGAP											0													79.0	75.0	77.0					X																	153595194		2119	4239	6358	-	-	-	SO:0001583	missense	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.893T>G	X.37:g.153595194A>C	ENSP00000358866:p.Val298Gly		E9KL45|Q5HY53|Q5HY55|Q8NF52	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.V298G	ENST00000369850.3	37	c.893	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	A	14.22	2.469543	0.43839	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.86497	-2.13;-2.13;-2.13;-2.13	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.95579	0.8563	H	0.96662	3.86	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.74674	0.936;0.984	D	0.96921	0.9674	10	0.87932	D	0	.	14.283	0.66226	1.0:0.0:0.0:0.0	.	298;298	P21333-2;P21333	.;FLNA_HUMAN	G	298;271;298;298;298	ENSP00000353467:V298G;ENSP00000416926:V298G;ENSP00000358866:V298G;ENSP00000358863:V298G	ENSP00000358863:V298G	V	-	2	0	FLNA	153248388	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	9.328000	0.96403	1.752000	0.51891	0.427000	0.28365	GTG	FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.652	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	110	0.00	0	A			153595194	153595194	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	missense	123	11.97	17	SNP	1.000	C
FLNB	2317	genome.wustl.edu	37	3	58090879	58090879	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:58090879T>G	ENST00000295956.4	+	11	1848	c.1683T>G	c.(1681-1683)ggT>ggG	p.G561G	FLNB_ENST00000429972.2_Silent_p.G561G|FLNB_ENST00000419752.2_Silent_p.G392G|FLNB_ENST00000493452.1_Silent_p.G392G|FLNB_ENST00000490882.1_Silent_p.G561G|FLNB_ENST00000357272.4_Silent_p.G561G|FLNB_ENST00000348383.5_Silent_p.G561G|FLNB_ENST00000358537.3_Silent_p.G561G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	561					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)		GGCTCCATGGTGGGATTGTCG	0.557																																						dbGAP											0													107.0	107.0	107.0					3																	58090879		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.1683T>G	3.37:g.58090879T>G			B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G561	ENST00000295956.4	37	c.1683	CCDS2885.1	3																																																																																			FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.557	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	256	0.00	0	T	NM_001457		58090879	58090879	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	silent	246	10.55	29	SNP	0.001	G
FLNB	2317	genome.wustl.edu	37	3	58156439	58156439	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:58156439T>G	ENST00000295956.4	+	46	7924	c.7759T>G	c.(7759-7761)Tgg>Ggg	p.W2587G	FLNB_ENST00000429972.2_Missense_Mutation_p.W2576G|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.W2407G|FLNB_ENST00000493452.1_Missense_Mutation_p.W2394G|FLNB_ENST00000490882.1_Missense_Mutation_p.W2618G|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.W2546G|FLNB_ENST00000358537.3_Missense_Mutation_p.W2563G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2587	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				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)		GGCTGTGAAGTGGGGGGAGGA	0.512																																						dbGAP											0													86.0	76.0	80.0					3																	58156439		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.7759T>G	3.37:g.58156439T>G	ENSP00000295956:p.Trp2587Gly		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.W2587G	ENST00000295956.4	37	c.7759	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275815	0.80580	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87;-1.87;-1.87	4.86	4.86	0.63082	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	M	0.93854	3.465	0.80722	D	1	D;D;D;D;D;D	0.89917	0.978;0.975;0.996;1.0;0.992;0.992	P;D;D;D;D;D	0.80764	0.883;0.913;0.992;0.994;0.983;0.992	D	0.95466	0.8547	10	0.87932	D	0	.	14.9009	0.70678	0.0:0.0:0.0:1.0	.	2563;2618;2394;2407;2576;2587	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	G	2587;2618;2563;2576;2546;2394;2407	ENSP00000295956:W2587G;ENSP00000420213:W2618G;ENSP00000351339:W2563G;ENSP00000415599:W2576G;ENSP00000232447:W2546G;ENSP00000418510:W2394G;ENSP00000414532:W2407G	ENSP00000295956:W2587G	W	+	1	0	FLNB	58131479	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.825000	0.86693	2.172000	0.68678	0.533000	0.62120	TGG	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000136068		0.512	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	174	0.00	0	T	NM_001457		58156439	58156439	+1	no_errors	ENST00000295956	ensembl	human	known	69_37n	missense	119	11.85	16	SNP	1.000	G
FLOT2	2319	genome.wustl.edu	37	17	27207547	27207547	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:27207547T>G	ENST00000394908.4	-	0	1423				FLOT2_ENST00000394906.2_3'UTR|FLOT2_ENST00000585169.1_3'UTR|FLOT2_ENST00000577789.1_5'UTR	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2						cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GAGGGCCGGGTGGCTGCTGAA	0.572																																						dbGAP											0													84.0	95.0	92.0					17																	27207547		2083	4200	6283	-	-	-	SO:0001624	3_prime_UTR_variant	0			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.*32A>C	17.37:g.27207547T>G				RNA	SNP	-	NULL	ENST00000394908.4	37	NULL	CCDS11245.2	17																																																																																			FLOT2	-	-	ENSG00000132589		0.572	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	114	0.86	1	T	NM_004475		27207547	27207547	-1	no_errors	ENST00000577789	ensembl	human	known	69_37n	rna	77	21.21	21	SNP	0.019	G
FLT1	2321	genome.wustl.edu	37	13	28942781	28942781	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:28942781T>G	ENST00000282397.4	-	15	2368				FLT1_ENST00000541932.1_Silent_p.S712S	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1						blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	atgacgatggtgacgttgatg	0.338																																						dbGAP											0													398.0	418.0	412.0					13																	28942781		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2117-10959A>C	13.37:g.28942781T>G			A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.S712	ENST00000282397.4	37	c.2136	CCDS9330.1	13																																																																																			FLT1	-	smart_Ig_sub2,pfscan_Ig-like	ENSG00000102755		0.338	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	302	0.00	0	T			28942781	28942781	-1	no_errors	ENST00000541932	ensembl	human	known	69_37n	silent	267	11.59	35	SNP	0.002	G
FLVCR2	55640	genome.wustl.edu	37	14	76045476	76045476	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:76045476A>C	ENST00000238667.4	+	1	517	c.161A>C	c.(160-162)cAc>cCc	p.H54P	AC007182.6_ENST00000455232.1_RNA	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	54	8 X 6 AA tandem repeats of P-S-[VS]-S- [VIAG]-[HNP].				heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGTTCGGCCCACCCCAGTGCC	0.667																																						dbGAP											0													111.0	114.0	113.0					14																	76045476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.161A>C	14.37:g.76045476A>C	ENSP00000238667:p.His54Pro		B7Z485|Q53ZT9|Q96JY3|Q9NX90	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom	p.H54P	ENST00000238667.4	37	c.161	CCDS9844.1	14	.	.	.	.	.	.	.	.	.	.	A	18.82	3.705232	0.68615	.	.	ENSG00000119686	ENST00000238667	T	0.29142	1.58	4.96	1.02	0.19986	.	1.076460	0.07032	N	0.828674	T	0.22551	0.0544	L	0.27053	0.805	0.09310	N	0.999997	B	0.28512	0.214	B	0.28784	0.094	T	0.31392	-0.9945	10	0.33940	T	0.23	-8.0703	9.1993	0.37249	0.6004:0.0:0.0:0.3996	.	54	Q9UPI3	FLVC2_HUMAN	P	54	ENSP00000238667:H54P	ENSP00000238667:H54P	H	+	2	0	AC007182.1	75115229	0.000000	0.05858	0.001000	0.08648	0.956000	0.61745	0.667000	0.25112	0.066000	0.16515	0.528000	0.53228	CAC	FLVCR2	-	superfamily_Trimer_LpxA-like	ENSG00000119686		0.667	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	HGNC	protein_coding	OTTHUMT00000413672.1	135	0.73	1	A	NM_017791		76045476	76045476	+1	no_errors	ENST00000238667	ensembl	human	known	69_37n	missense	189	11.21	24	SNP	0.016	C
FLVCR2	55640	genome.wustl.edu	37	14	76112854	76112854	+	3'UTR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:76112854A>C	ENST00000238667.4	+	0	1976				FLVCR2_ENST00000555027.1_3'UTR|FLVCR2_ENST00000556856.1_3'UTR|FLVCR2_ENST00000556241.1_Intron|FLVCR2_ENST00000553587.1_Intron|FLVCR2_ENST00000539311.1_3'UTR	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2						heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CGAACACCCCACCTTTTCCTT	0.532																																						dbGAP											0													108.0	82.0	91.0					14																	76112854		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.*39A>C	14.37:g.76112854A>C			B7Z485|Q53ZT9|Q96JY3|Q9NX90	RNA	SNP	-	NULL	ENST00000238667.4	37	NULL	CCDS9844.1	14																																																																																			FLVCR2	-	-	ENSG00000119686		0.532	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLVCR2	HGNC	protein_coding	OTTHUMT00000413672.1	144	0.68	1	A	NM_017791		76112854	76112854	+1	no_errors	ENST00000554496	ensembl	human	putative	69_37n	rna	79	26.61	29	SNP	0.000	C
FN3KRP	79672	genome.wustl.edu	37	17	80684372	80684372	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:80684372A>G	ENST00000269373.6	+	5	558	c.485A>G	c.(484-486)gAg>gGg	p.E162G	FN3KRP_ENST00000535965.1_Missense_Mutation_p.E112G|RP11-388C12.5_ENST00000570919.1_lincRNA	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	162							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GACTGGCAGGAGGACTGGGTC	0.557																																						dbGAP											0													198.0	199.0	199.0					17																	80684372		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.485A>G	17.37:g.80684372A>G	ENSP00000269373:p.Glu162Gly		Q969F4|Q9H0U7	Missense_Mutation	SNP	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	p.E162G	ENST00000269373.6	37	c.485	CCDS11817.1	17	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350864	0.24512	.	.	ENSG00000141560	ENST00000269373;ENST00000535965	T;T	0.46063	0.88;0.88	5.54	3.31	0.37934	Protein kinase-like domain (1);	0.872362	0.10477	N	0.670112	T	0.26340	0.0643	N	0.16602	0.42	0.37500	D	0.916735	B	0.02656	0.0	B	0.10450	0.005	T	0.12528	-1.0544	10	0.41790	T	0.15	-6.6273	6.3511	0.21377	0.7189:0.1344:0.1467:0.0	.	162	Q9HA64	KT3K_HUMAN	G	162;112	ENSP00000269373:E162G;ENSP00000444994:E112G	ENSP00000269373:E162G	E	+	2	0	FN3KRP	78277661	0.000000	0.05858	0.982000	0.44146	0.449000	0.32228	0.028000	0.13644	0.916000	0.36871	0.460000	0.39030	GAG	FN3KRP	-	pfam_Fructo-/Ketosamine-3-kinase,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,pirsf_Fructo-/Ketosamine-3-kinase	ENSG00000141560		0.557	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FN3KRP	HGNC	protein_coding	OTTHUMT00000439219.1	160	0.00	0	A	NM_024619		80684372	80684372	+1	no_errors	ENST00000269373	ensembl	human	known	69_37n	missense	173	14.36	29	SNP	0.878	G
FNBP4	23360	genome.wustl.edu	37	11	47754065	47754065	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:47754065T>G	ENST00000263773.5	-	11	1833				FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4							nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGGTGAAAGGTGAAAAGGGGA	0.498																																						dbGAP											0													237.0	238.0	238.0					11																	47754065		2065	4224	6289	-	-	-	SO:0001627	intron_variant	0			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.1820+23A>C	11.37:g.47754065T>G			Q9H985|Q9NT81|Q9Y2L7	RNA	SNP	-	NULL	ENST00000263773.5	37	NULL	CCDS41644.1	11																																																																																			FNBP4	-	-	ENSG00000109920		0.498	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3	201	0.00	0	T			47754065	47754065	-1	no_errors	ENST00000527894	ensembl	human	known	69_37n	rna	276	17.80	60	SNP	1.000	G
FNBP4	23360	genome.wustl.edu	37	11	47774516	47774516	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:47774516T>G	ENST00000263773.5	-	4	601	c.589A>C	c.(589-591)Acc>Ccc	p.T197P	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	197						nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GATGTTTGGGTGGAGTCTGTT	0.433																																						dbGAP											0													148.0	139.0	142.0					11																	47774516		1911	4114	6025	-	-	-	SO:0001583	missense	0			BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.589A>C	11.37:g.47774516T>G	ENSP00000263773:p.Thr197Pro		Q9H985|Q9NT81|Q9Y2L7	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.T197P	ENST00000263773.5	37	c.589	CCDS41644.1	11	.	.	.	.	.	.	.	.	.	.	T	10.99	1.506453	0.26949	.	.	ENSG00000109920	ENST00000263773	T	0.32023	1.47	5.75	-3.9	0.04181	.	0.744432	0.13679	N	0.370311	T	0.23249	0.0562	L	0.36672	1.1	0.09310	N	1	B	0.27068	0.167	B	0.23419	0.046	T	0.10706	-1.0618	10	0.48119	T	0.1	1.7483	16.3193	0.82939	0.0:0.789:0.0:0.211	.	197	Q8N3X1	FNBP4_HUMAN	P	197	ENSP00000263773:T197P	ENSP00000263773:T197P	T	-	1	0	FNBP4	47731092	0.000000	0.05858	0.215000	0.23724	0.558000	0.35554	-1.018000	0.03626	-0.650000	0.05423	0.533000	0.62120	ACC	FNBP4	-	NULL	ENSG00000109920		0.433	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP4	HGNC	protein_coding	OTTHUMT00000390237.3	198	0.50	1	T			47774516	47774516	-1	no_errors	ENST00000263773	ensembl	human	known	69_37n	missense	228	11.28	29	SNP	0.197	G
FNDC4	64838	genome.wustl.edu	37	2	27716326	27716326	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:27716326A>C	ENST00000264703.3	-	5	865	c.474T>G	c.(472-474)ggT>ggG	p.G158G		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	158						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTCCATCCAGACCTTCCACTG	0.567																																						dbGAP											0													226.0	212.0	217.0					2																	27716326		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.474T>G	2.37:g.27716326A>C			D6W560	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G158	ENST00000264703.3	37	c.474	CCDS1756.1	2																																																																																			FNDC4	-	NULL	ENSG00000115226		0.567	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC4	HGNC	protein_coding	OTTHUMT00000215031.1	130	0.76	1	A	NM_022823		27716326	27716326	-1	no_errors	ENST00000264703	ensembl	human	known	69_37n	silent	126	18.06	28	SNP	0.994	C
FOXJ2	55810	genome.wustl.edu	37	12	8202045	8202045	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:8202045A>C	ENST00000162391.3	+	9	2560	c.1415A>C	c.(1414-1416)cAc>cCc	p.H472P	FOXJ2_ENST00000428177.2_Missense_Mutation_p.H472P	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	472					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCCTCAACCACTTCCTTACT	0.572																																						dbGAP											0													174.0	131.0	146.0					12																	8202045		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1415A>C	12.37:g.8202045A>C	ENSP00000162391:p.His472Pro		A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.H472P	ENST00000162391.3	37	c.1415	CCDS8587.1	12	.	.	.	.	.	.	.	.	.	.	A	16.12	3.034391	0.54896	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.95035	-3.41;-3.59	5.86	5.86	0.93980	.	0.446876	0.23121	N	0.051693	D	0.93171	0.7825	L	0.50333	1.59	0.49389	D	0.999782	B;P	0.49559	0.337;0.925	B;P	0.44990	0.099;0.466	D	0.93527	0.6866	10	0.66056	D	0.02	.	14.2071	0.65741	1.0:0.0:0.0:0.0	.	472;472	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	P	472	ENSP00000162391:H472P;ENSP00000403411:H472P	ENSP00000162391:H472P	H	+	2	0	FOXJ2	8093312	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.445000	0.52921	2.240000	0.73641	0.533000	0.62120	CAC	FOXJ2	-	NULL	ENSG00000065970		0.572	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXJ2	HGNC	protein_coding	OTTHUMT00000400088.1	159	0.61	1	A	NM_018416		8202045	8202045	+1	no_errors	ENST00000162391	ensembl	human	known	69_37n	missense	43	18.87	10	SNP	1.000	C
FOXO4	4303	genome.wustl.edu	37	X	70321368	70321368	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:70321368A>C	ENST00000374259.3	+	2	1620	c.1288A>C	c.(1288-1290)Acc>Ccc	p.T430P	FOXO4_ENST00000341558.3_Missense_Mutation_p.T375P	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	430					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					TCTGGTTCCCACCCTTTCTAT	0.627																																						dbGAP											0													55.0	55.0	55.0					X																	70321368		1934	4118	6052	-	-	-	SO:0001583	missense	0				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.1288A>C	X.37:g.70321368A>C	ENSP00000363377:p.Thr430Pro		B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.T430P	ENST00000374259.3	37	c.1288	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	A	7.278	0.608476	0.14002	.	.	ENSG00000184481	ENST00000374259;ENST00000341558	D;D	0.96459	-4.02;-4.02	5.05	-0.303	0.12792	.	1.244050	0.05378	N	0.536587	D	0.91630	0.7355	L	0.38531	1.155	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.80279	-0.1449	10	0.30854	T	0.27	-43.1198	2.4441	0.04501	0.4589:0.3161:0.0866:0.1385	.	375;430	P98177-2;P98177	.;FOXO4_HUMAN	P	430;375	ENSP00000363377:T430P;ENSP00000342209:T375P	ENSP00000342209:T375P	T	+	1	0	FOXO4	70238093	0.000000	0.05858	0.047000	0.18901	0.792000	0.44763	0.608000	0.24223	0.224000	0.20940	0.486000	0.48141	ACC	FOXO4	-	NULL	ENSG00000184481		0.627	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	HGNC	protein_coding	OTTHUMT00000057115.1	98	0.00	0	A	NM_005938		70321368	70321368	+1	no_errors	ENST00000374259	ensembl	human	known	69_37n	missense	80	18.37	18	SNP	0.001	C
FPR2	2358	genome.wustl.edu	37	19	52272006	52272006	+	Missense_Mutation	SNP	T	T	G	rs375488620		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:52272006T>G	ENST00000598776.1	+	2	867	c.95T>G	c.(94-96)gTg>gGg	p.V32G	FPR2_ENST00000598953.1_Missense_Mutation_p.V32G|FPR2_ENST00000340023.6_Missense_Mutation_p.V32G	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	32					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CCATTGGTGGTGCTTGGGGTC	0.537																																						dbGAP											0													186.0	153.0	164.0					19																	52272006		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.95T>G	19.37:g.52272006T>G	ENSP00000468897:p.Val32Gly		A8K3E2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt	p.V32G	ENST00000598776.1	37	c.95	CCDS12840.1	19	.	.	.	.	.	.	.	.	.	.	.	16.34	3.096275	0.56075	.	.	ENSG00000171049	ENST00000340023	T	0.42131	0.98	2.98	2.98	0.34508	.	0.727684	0.12193	U	0.491023	T	0.38665	0.1049	N	0.08118	0	0.31503	N	0.664608	D	0.60160	0.987	P	0.60682	0.878	T	0.45425	-0.9262	10	0.87932	D	0	.	9.6443	0.39857	0.0:0.0:0.0:1.0	.	32	P25090	FPR2_HUMAN	G	32	ENSP00000340191:V32G	ENSP00000340191:V32G	V	+	2	0	FPR2	56963818	0.557000	0.26546	0.018000	0.16275	0.381000	0.30169	3.948000	0.56660	1.612000	0.50221	0.402000	0.26972	GTG	FPR2	-	prints_7TM_GPCR_Rhodpsn	ENSG00000171049		0.537	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	330	0.90	3	T	NM_001005738		52272006	52272006	+1	no_errors	ENST00000340023	ensembl	human	known	69_37n	missense	249	11.97	34	SNP	0.131	G
FRAS1	80144	genome.wustl.edu	37	4	79353723	79353723	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:79353723A>C	ENST00000325942.6	+	38	5622	c.5182A>C	c.(5182-5184)Aca>Cca	p.T1728P	FRAS1_ENST00000264895.6_Missense_Mutation_p.T1728P	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1728					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						CAGTAAAAGCACAGCCATAAT	0.532																																						dbGAP											0													76.0	83.0	81.0					4																	79353723		2053	4199	6252	-	-	-	SO:0001583	missense	0			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5182A>C	4.37:g.79353723A>C	ENSP00000326330:p.Thr1728Pro		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EGF-like,smart_Calx_beta,pfscan_VWF_C	p.T1728P	ENST00000325942.6	37	c.5182	CCDS54772.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.26|11.26	1.587122|1.587122	0.28268|0.28268	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000510944|ENST00000325942;ENST00000264895;ENST00000545316	.|T;T	.|0.52295	.|0.67;0.67	6.08|6.08	2.01|2.01	0.26516|0.26516	.|.	.|0.459420	.|0.23770	.|N	.|0.044724	T|T	0.42810|0.42810	0.1219|0.1219	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|P;P	.|0.48998	.|0.918;0.901	.|B;B	.|0.42555	.|0.372;0.391	T|T	0.39881|0.39881	-0.9592|-0.9592	5|10	.|0.51188	.|T	.|0.08	.|.	11.4693|11.4693	0.50259|0.50259	0.2859:0.0:0.0:0.714|0.2859:0.0:0.0:0.714	.|.	.|1728;1728	.|E9PHH6;A2RRR8	.|.;.	P|P	177|1728;1728;148	.|ENSP00000326330:T1728P;ENSP00000264895:T1728P	.|ENSP00000264895:T1728P	H|T	+|+	2|1	0|0	FRAS1|FRAS1	79572747|79572747	1.000000|1.000000	0.71417|0.71417	0.473000|0.473000	0.27253|0.27253	0.023000|0.023000	0.10783|0.10783	3.312000|3.312000	0.51927|0.51927	0.494000|0.494000	0.27859|0.27859	0.482000|0.482000	0.46254|0.46254	CAC|ACA	FRAS1	-	NULL	ENSG00000138759		0.532	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	205	0.49	1	A			79353723	79353723	+1	no_errors	ENST00000264895	ensembl	human	known	69_37n	missense	102	16.39	20	SNP	0.999	C
FREM1	158326	genome.wustl.edu	37	9	14737550	14737550	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:14737550A>C	ENST00000380880.3	-	37	7167	c.6384T>G	c.(6382-6384)ggT>ggG	p.G2128G	FREM1_ENST00000422223.2_Silent_p.G2128G|FREM1_ENST00000380894.1_Silent_p.G664G|FREM1_ENST00000380881.4_Silent_p.G2129G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2128	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGGTTCACCACCGATCCACT	0.453																																						dbGAP											0													44.0	45.0	44.0					9																	14737550		1935	4134	6069	-	-	-	SO:0001819	synonymous_variant	0			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.6384T>G	9.37:g.14737550A>C			B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Silent	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.G2129	ENST00000380880.3	37	c.6387	CCDS47952.1	9																																																																																			FREM1	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	ENSG00000164946		0.453	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	123	0.81	1	A	NM_144966		14737550	14737550	-1	no_errors	ENST00000380881	ensembl	human	known	69_37n	silent	81	19.42	20	SNP	0.065	C
FRS3	10817	genome.wustl.edu	37	6	41744671	41744671	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:41744671T>G	ENST00000373018.3	-	3	306	c.55A>C	c.(55-57)Acc>Ccc	p.T19P	FRS3_ENST00000259748.2_Missense_Mutation_p.T19P|FRS3_ENST00000466420.1_5'UTR	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	19	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGAACTTGGTGGGGTGGTTG	0.537																																						dbGAP											0													200.0	171.0	181.0					6																	41744671		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.55A>C	6.37:g.41744671T>G	ENSP00000362109:p.Thr19Pro		Q5T3D5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.T19P	ENST00000373018.3	37	c.55	CCDS4860.1	6	.	.	.	.	.	.	.	.	.	.	T	19.11	3.762996	0.69763	.	.	ENSG00000137218	ENST00000373018;ENST00000259748;ENST00000426290;ENST00000422888	D;D;D	0.82433	-1.61;-1.61;-1.61	5.8	4.62	0.57501	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (2);	0.000000	0.85682	D	0.000000	T	0.71230	0.3315	N	0.08118	0	0.54753	D	0.999984	B	0.22683	0.073	P	0.47645	0.553	T	0.74284	-0.3715	10	0.59425	D	0.04	-32.4562	12.8047	0.57607	0.0:0.0:0.137:0.863	.	19	O43559	FRS3_HUMAN	P	19;19;43;19	ENSP00000362109:T19P;ENSP00000259748:T19P;ENSP00000396715:T43P	ENSP00000259748:T19P	T	-	1	0	FRS3	41852649	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	5.146000	0.64845	1.006000	0.39211	-0.460000	0.05396	ACC	FRS3	-	smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	ENSG00000137218		0.537	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS3	HGNC	protein_coding	OTTHUMT00000040532.2	327	0.30	1	T	NM_006653		41744671	41744671	-1	no_errors	ENST00000259748	ensembl	human	known	69_37n	missense	299	10.48	35	SNP	1.000	G
FSHR	2492	genome.wustl.edu	37	2	49195883	49195883	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:49195883T>G	ENST00000406846.2	-	9	927	c.808A>C	c.(808-810)Acc>Ccc	p.T270P	FSHR_ENST00000469138.1_5'Flank|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000304421.4_Missense_Mutation_p.T244P|FSHR_ENST00000541117.1_Missense_Mutation_p.T6P	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	270					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	CTGGGATAGGTGAGGCTGGCT	0.488									Gonadal Dysgenesis, 46 XX																													dbGAP											0													82.0	80.0	80.0					2																	49195883		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.808A>C	2.37:g.49195883T>G	ENSP00000384708:p.Thr270Pro		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_supfam,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt	p.T270P	ENST00000406846.2	37	c.808	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	T	29.8	5.039124	0.93630	.	.	ENSG00000170820	ENST00000406846;ENST00000304421;ENST00000541117	T;T;T	0.76968	-0.52;-0.57;-1.06	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.90721	0.7088	M	0.93808	3.46	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.92977	0.6403	9	.	.	.	.	14.8487	0.70281	0.0:0.0:0.0:1.0	.	244;270	Q05AH0;P23945	.;FSHR_HUMAN	P	270;244;6	ENSP00000384708:T270P;ENSP00000306780:T244P;ENSP00000444172:T6P	.	T	-	1	0	FSHR	49049387	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.024000	0.70857	2.288000	0.76882	0.533000	0.62120	ACC	FSHR	-	NULL	ENSG00000170820		0.488	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	139	0.71	1	T			49195883	49195883	-1	no_errors	ENST00000406846	ensembl	human	known	69_37n	missense	151	16.02	29	SNP	1.000	G
FUBP3	8939	genome.wustl.edu	37	9	133498199	133498199	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:133498199T>G	ENST00000319725.9	+	10	949		c.e10+2			NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3						positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TTAAACCAGGTGGGTATGATG	0.363																																						dbGAP											0													122.0	115.0	117.0					9																	133498199		1837	4081	5918	-	-	-	SO:0001630	splice_region_variant	0			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.874+2T>G	9.37:g.133498199T>G			A3KFK8|A3KFL0|Q92946|Q9BVB6	Splice_Site	SNP	-	e10+2	ENST00000319725.9	37	c.874+2	CCDS43893.1	9	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987348	0.74589	.	.	ENSG00000107164	ENST00000358721;ENST00000319725;ENST00000372376	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.096	0.65021	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FUBP3	132488020	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.902000	0.87389	1.988000	0.58038	0.454000	0.30748	.	FUBP3	-	-	ENSG00000107164		0.363	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1	252	0.00	0	T		Intron	133498199	133498199	+1	no_errors	ENST00000319725	ensembl	human	known	69_37n	splice_site	233	11.74	31	SNP	1.000	G
FUBP3	8939	genome.wustl.edu	37	9	133501831	133501831	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:133501831T>G	ENST00000319725.9	+	12	1131	c.1056T>G	c.(1054-1056)ggT>ggG	p.G352G		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	352					positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		GAGCCCCTGGTGGCGTCCAGG	0.607											OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													56.0	66.0	63.0					9																	133501831		2045	4219	6264	-	-	-	SO:0001819	synonymous_variant	0			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.1056T>G	9.37:g.133501831T>G		1603	A3KFK8|A3KFL0|Q92946|Q9BVB6	Silent	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.G352	ENST00000319725.9	37	c.1056	CCDS43893.1	9																																																																																			FUBP3	-	NULL	ENSG00000107164		0.607	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1	102	0.96	1	T			133501831	133501831	+1	no_errors	ENST00000319725	ensembl	human	known	69_37n	silent	56	21.13	15	SNP	0.945	G
FUOM	282969	genome.wustl.edu	37	10	135169176	135169176	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:135169176T>G	ENST00000368552.3	-	5	416				FUOM_ENST00000278025.4_Intron|FUOM_ENST00000368551.1_Intron|FUOM_ENST00000465384.1_Intron|FUOM_ENST00000447176.1_Intron	NM_001098483.1	NP_001091953.1	A2VDF0	FUCM_HUMAN	fucose mutarotase						female mating behavior (GO:0060180)|fucose metabolic process (GO:0006004)|fucosylation (GO:0036065)|negative regulation of neuron differentiation (GO:0045665)		fucose binding (GO:0042806)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)										GGCCCCCCGGTGGGGATGGGG	0.647																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK129527	CCDS7680.1	10q26.3	2012-07-10	2012-07-10	2012-07-10	ENSG00000148803	ENSG00000148803	5.1.3.n2		24733	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 125"""	C10orf125		17602138	Standard	NM_001098483		Approved	FLJ26016, FucU, FucM	uc001lmt.2	A2VDF0	OTTHUMG00000019315	ENST00000368552.3:c.398+65A>C	10.37:g.135169176T>G			A1L300|Q5VWY2|Q5VWY3|Q6ZPD2	RNA	SNP	-	NULL	ENST00000368552.3	37	NULL	CCDS44499.1	10																																																																																			FUOM	-	-	ENSG00000148803		0.647	FUOM-202	KNOWN	basic|appris_principal|CCDS	protein_coding	FUOM	HGNC	protein_coding		69	0.00	0	T	NM_198472		135169176	135169176	-1	no_errors	ENST00000478895	ensembl	human	known	69_37n	rna	31	23.81	10	SNP	0.000	G
FUT6	2528	genome.wustl.edu	37	19	5831962	5831962	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:5831962A>C	ENST00000318336.4	-	3	1811	c.617T>G	c.(616-618)gTg>gGg	p.V206G	FUT6_ENST00000286955.5_Missense_Mutation_p.V206G|FUT6_ENST00000592563.1_Missense_Mutation_p.V206G|FUT6_ENST00000524754.1_Missense_Mutation_p.V206G|FUT6_ENST00000527106.1_Missense_Mutation_p.V206G	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	206					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						GTAGTAGCGCACCCTGGCGGA	0.677																																						dbGAP											0													81.0	77.0	79.0					19																	5831962		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.617T>G	19.37:g.5831962A>C	ENSP00000313398:p.Val206Gly		A6NEX0|D6W637|Q9UND8	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.V206G	ENST00000318336.4	37	c.617	CCDS12152.1	19	.	.	.	.	.	.	.	.	.	.	A	15.64	2.893703	0.52121	.	.	ENSG00000156413	ENST00000524754;ENST00000527106;ENST00000318336;ENST00000286955;ENST00000341530	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	3.07	3.07	0.35406	.	0.113525	0.36815	N	0.002398	T	0.56411	0.1983	M	0.93420	3.415	0.33504	D	0.590256	D;D	0.63880	0.993;0.993	D;D	0.71870	0.969;0.975	T	0.73360	-0.4007	10	0.87932	D	0	.	9.8625	0.41123	1.0:0.0:0.0:0.0	.	206;206	C9J8A2;P51993	.;FUT6_HUMAN	G	206	ENSP00000431708:V206G;ENSP00000432954:V206G;ENSP00000313398:V206G;ENSP00000286955:V206G	ENSP00000286955:V206G	V	-	2	0	FUT6	5782962	0.014000	0.17966	0.228000	0.23943	0.141000	0.21300	2.155000	0.42301	1.369000	0.46134	0.352000	0.21897	GTG	FUT6	-	pfam_Glyco_trans_10	ENSG00000156413		0.677	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT6	HGNC	protein_coding	OTTHUMT00000394218.2	112	0.00	0	A	NM_000150		5831962	5831962	-1	no_errors	ENST00000592563	ensembl	human	known	69_37n	missense	63	17.11	13	SNP	0.345	C
G6PD	2539	genome.wustl.edu	37	X	153763482	153763482	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:153763482T>G	ENST00000393564.2	-	5	498	c.386A>C	c.(385-387)cAc>cCc	p.H129P	G6PD_ENST00000393562.2_Missense_Mutation_p.H159P|G6PD_ENST00000369620.2_Missense_Mutation_p.H129P|G6PD_ENST00000497281.1_5'UTR	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	129					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACCCCAGGTGGAGGGCATT	0.597																																						dbGAP											0													123.0	94.0	104.0					X																	153763482		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.386A>C	X.37:g.153763482T>G	ENSP00000377194:p.His129Pro		D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,pirsf_G6P_DH,prints_G6P_DH	p.H129P	ENST00000393564.2	37	c.386	CCDS44023.1	X	.	.	.	.	.	.	.	.	.	.	T	6.939	0.543103	0.13250	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620;ENST00000439227;ENST00000440967;ENST00000433845	D;D;D;D;D;D	0.99394	-5.82;-5.82;-5.82;-5.82;-5.82;-5.82	5.58	3.12	0.35913	NAD(P)-binding domain (1);Glucose-6-phosphate dehydrogenase, NAD-binding (1);	0.363370	0.32372	N	0.006198	D	0.94614	0.8264	N	0.02865	-0.47	0.34296	D	0.683805	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	D	0.91073	0.4894	10	0.48119	T	0.1	.	5.4797	0.16717	0.0:0.0904:0.3335:0.5762	.	129;159	P11413;P11413-3	G6PD_HUMAN;.	P	159;129;129;129;129;129;129	ENSP00000377192:H159P;ENSP00000377194:H129P;ENSP00000358633:H129P;ENSP00000395599:H129P;ENSP00000400648:H129P;ENSP00000394690:H129P	ENSP00000291567:H129P	H	-	2	0	G6PD	153416676	0.995000	0.38212	0.032000	0.17829	0.010000	0.07245	2.055000	0.41345	0.238000	0.21222	0.441000	0.28932	CAC	G6PD	-	pfam_G6P_DH_NAD-bd,pirsf_G6P_DH	ENSG00000160211		0.597	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	G6PD	HGNC	protein_coding	OTTHUMT00000061170.3	164	0.61	1	T	NM_000402		153763482	153763482	-1	no_errors	ENST00000369620	ensembl	human	known	69_37n	missense	72	24.21	23	SNP	0.799	G
GAB2	9846	genome.wustl.edu	37	11	77937543	77937543	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:77937543A>G	ENST00000361507.4	-	4	1260	c.1175T>C	c.(1174-1176)cTc>cCc	p.L392P	GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Missense_Mutation_p.L354P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	392					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CATTGCAGGGAGGGTGTTGCG	0.537																																						dbGAP											0													164.0	140.0	148.0					11																	77937543		2200	4292	6492	-	-	-	SO:0001583	missense	0			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1175T>C	11.37:g.77937543A>G	ENSP00000354952:p.Leu392Pro		A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L392P	ENST00000361507.4	37	c.1175	CCDS8259.1	11	.	.	.	.	.	.	.	.	.	.	A	20.3	3.962089	0.74016	.	.	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.32515	1.45;1.45	5.21	5.21	0.72293	.	0.000000	0.64402	U	0.000005	T	0.58032	0.2094	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62115	-0.6922	10	0.51188	T	0.08	-22.4776	15.3812	0.74658	1.0:0.0:0.0:0.0	.	392	Q9UQC2	GAB2_HUMAN	P	354;392	ENSP00000343959:L354P;ENSP00000354952:L392P	ENSP00000343959:L354P	L	-	2	0	GAB2	77615191	1.000000	0.71417	0.998000	0.56505	0.718000	0.41266	8.857000	0.92250	2.101000	0.63845	0.459000	0.35465	CTC	GAB2	-	NULL	ENSG00000033327		0.537	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB2	HGNC	protein_coding	OTTHUMT00000391085.1	172	0.00	0	A	NM_080491		77937543	77937543	-1	no_errors	ENST00000361507	ensembl	human	known	69_37n	missense	257	11.60	34	SNP	1.000	G
GAB4	128954	genome.wustl.edu	37	22	17449245	17449245	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:17449245A>C	ENST00000400588.1	-	5	1073	c.966T>G	c.(964-966)ggT>ggG	p.G322G	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	322										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CATTCCCTCCACCATGCTGGG	0.587																																						dbGAP											0													111.0	114.0	113.0					22																	17449245		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.966T>G	22.37:g.17449245A>C				Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G322	ENST00000400588.1	37	c.966	CCDS42976.1	22																																																																																			GAB4	-	NULL	ENSG00000215568		0.587	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAB4	HGNC	protein_coding	OTTHUMT00000315426.1	181	0.55	1	A	XM_372882		17449245	17449245	-1	no_errors	ENST00000400588	ensembl	human	known	69_37n	silent	95	13.51	15	SNP	0.004	C
GABRA5	2558	genome.wustl.edu	37	15	27182428	27182428	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:27182428A>C	ENST00000335625.5	+	8	1565	c.677A>C	c.(676-678)cAc>cCc	p.H226P	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.H226P|GABRA5_ENST00000400081.3_Missense_Mutation_p.H226P	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	226					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	AACCAGTACCACCTGATGGGG	0.602																																						dbGAP											0													74.0	79.0	77.0					15																	27182428		2116	4218	6334	-	-	-	SO:0001583	missense	0				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.677A>C	15.37:g.27182428A>C	ENSP00000335592:p.His226Pro		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.H226P	ENST00000335625.5	37	c.677	CCDS45194.1	15	.	.	.	.	.	.	.	.	.	.	A	25.8	4.679915	0.88542	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	T;T;T	0.79033	-1.23;-1.23;-1.23	5.28	5.28	0.74379	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	L	0.46157	1.445	0.80722	D	1	P	0.48230	0.907	P	0.53102	0.718	T	0.80874	-0.1187	10	0.48119	T	0.1	.	14.6925	0.69096	1.0:0.0:0.0:0.0	.	226	P31644	GBRA5_HUMAN	P	226	ENSP00000335592:H226P;ENSP00000347557:H226P;ENSP00000382953:H226P	ENSP00000335592:H226P	H	+	2	0	GABRA5	24765174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.129000	0.77225	2.114000	0.64651	0.379000	0.24179	CAC	GABRA5	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000186297		0.602	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1	83	0.00	0	A			27182428	27182428	+1	no_errors	ENST00000335625	ensembl	human	known	69_37n	missense	78	17.89	17	SNP	1.000	C
GABARAPL3	23766	genome.wustl.edu	37	15	90892308	90892308	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:90892308A>C	ENST00000412799.2	-	1	361	c.122T>G	c.(121-123)gTg>gGg	p.V41G				Q9BY60	GBRL3_HUMAN	GABA(A) receptors associated protein like 3, pseudogene	41	Interaction with GABRG2. {ECO:0000250}.				autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|microtubule (GO:0005874)											CAGATCAGGCACCCTTGCTTT	0.507																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF180519		15q26.1	2014-02-12	2010-10-13		ENSG00000238244	ENSG00000238244			4069	pseudogene	pseudogene			"""GABA(A) receptors associated protein like 3"", ""GABA(A) receptors associated protein like 3 (pseudogene)"""			11414770	Standard	NR_028287		Approved	ATG8D	uc010uqf.2	Q9BY60	OTTHUMG00000177213	ENST00000412799.2:c.122T>G	15.37:g.90892308A>C	ENSP00000394008:p.Val41Gly			Missense_Mutation	SNP	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	p.V41G	ENST00000412799.2	37	c.122		15	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582656	0.46006	.	.	ENSG00000238244	ENST00000412799	T	0.48522	0.81	1.43	0.213	0.15244	.	.	.	.	.	T	0.49201	0.1543	.	.	.	0.43527	D	0.995808	.	.	.	.	.	.	T	0.48525	-0.9028	6	0.87932	D	0	.	4.5443	0.12073	0.7886:0.0:0.2114:0.0	.	.	.	.	G	41	ENSP00000394008:V41G	ENSP00000394008:V41G	V	-	2	0	GABARAPL3	88693312	1.000000	0.71417	0.443000	0.26883	0.720000	0.41350	5.433000	0.66520	0.036000	0.15547	0.383000	0.25322	GTG	GABARAPL3	-	pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12	ENSG00000238244		0.507	GABARAPL3-201	KNOWN	basic|appris_principal	protein_coding	GABARAPL3	HGNC	protein_coding		133	0.00	0	A	NR_028287		90892308	90892308	-1	no_errors	ENST00000412799	ensembl	human	known	69_37n	missense	94	18.26	21	SNP	1.000	C
GALNS	2588	genome.wustl.edu	37	16	88901678	88901678	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:88901678T>G	ENST00000268695.5	-	8	929	c.841A>C	c.(841-843)Acc>Ccc	p.T281P	GALNS_ENST00000542788.1_Missense_Mutation_p.T206P	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	281	Catalytic domain.		Missing (in MPS4A; mild form).		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		AAGACGAAGGTGTTGTCCGCG	0.582																																					GBM(129;1929 2344 25209 33204)	dbGAP											0													149.0	106.0	120.0					16																	88901678		2197	4300	6497	-	-	-	SO:0001583	missense	0			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.841A>C	16.37:g.88901678T>G	ENSP00000268695:p.Thr281Pro		Q86VK3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.T281P	ENST00000268695.5	37	c.841	CCDS10970.1	16	.	.	.	.	.	.	.	.	.	.	T	15.05	2.716851	0.48622	.	.	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.97710	-4.5;-4.5	5.14	2.73	0.32206	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.046329	0.85682	D	0.000000	D	0.99214	0.9727	H	0.99404	4.55	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.981	D	0.97919	1.0313	10	0.87932	D	0	.	9.9925	0.41879	0.2671:0.0:0.0:0.7329	.	281;281	B2R6P1;P34059	.;GALNS_HUMAN	P	281;206	ENSP00000268695:T281P;ENSP00000438197:T206P	ENSP00000268695:T281P	T	-	1	0	GALNS	87429179	1.000000	0.71417	0.008000	0.14137	0.012000	0.07955	4.633000	0.61318	0.230000	0.21059	0.454000	0.30748	ACC	GALNS	-	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000141012		0.582	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNS	HGNC	protein_coding	OTTHUMT00000269543.1	145	0.68	1	T			88901678	88901678	-1	no_errors	ENST00000268695	ensembl	human	known	69_37n	missense	55	20.29	14	SNP	0.987	G
GALNT10	55568	genome.wustl.edu	37	5	153783615	153783615	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:153783615T>G	ENST00000297107.6	+	8	1193				GALNT10_ENST00000519544.1_Intron|GALNT10_ENST00000377657.3_Silent_p.G7G|GALNT10_ENST00000377661.2_Intron|SAP30L-AS1_ENST00000519727.1_RNA|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGCGGGATGGTGAACTGGAAG	0.562																																						dbGAP											0													74.0	77.0	76.0					5																	153783615		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1057-49T>G	5.37:g.153783615T>G			B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Silent	SNP	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.G7	ENST00000297107.6	37	c.21	CCDS4325.1	5																																																																																			GALNT10	-	NULL	ENSG00000164574		0.562	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT10	HGNC	protein_coding	OTTHUMT00000252453.1	170	0.58	1	T	NM_198321		153783615	153783615	+1	no_errors	ENST00000377657	ensembl	human	known	69_37n	silent	93	19.66	23	SNP	0.002	G
GALR1	2587	genome.wustl.edu	37	18	74980572	74980572	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:74980572T>G	ENST00000299727.3	+	3	764	c.764T>G	c.(763-765)gTg>gGg	p.V255G		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	255					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		GTGGTTGTGGTGTTTGGAATC	0.547																																						dbGAP											0													123.0	125.0	124.0					18																	74980572		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.764T>G	18.37:g.74980572T>G	ENSP00000299727:p.Val255Gly		Q4VBL7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Galnin_1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt	p.V255G	ENST00000299727.3	37	c.764	CCDS12012.1	18	.	.	.	.	.	.	.	.	.	.	T	15.38	2.815193	0.50527	.	.	ENSG00000166573	ENST00000299727	T	0.58652	0.32	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.87456	2.885	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.82822	-0.0267	10	0.87932	D	0	.	13.9189	0.63919	0.0:0.0:0.0:1.0	.	255	P47211	GALR1_HUMAN	G	255	ENSP00000299727:V255G	ENSP00000299727:V255G	V	+	2	0	GALR1	73109560	1.000000	0.71417	0.157000	0.22605	0.029000	0.11900	7.748000	0.85085	1.778000	0.52293	0.460000	0.39030	GTG	GALR1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000166573		0.547	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALR1	HGNC	protein_coding	OTTHUMT00000256362.1	112	0.00	0	T			74980572	74980572	+1	no_errors	ENST00000299727	ensembl	human	known	69_37n	missense	107	14.40	18	SNP	0.111	G
GAPDHS	26330	genome.wustl.edu	37	19	36029507	36029507	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:36029507A>C	ENST00000222286.4	+	4	487	c.371A>C	c.(370-372)cAc>cCc	p.H124P	AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000589137.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	124					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GACTCCACCCACGGCCGATAC	0.517																																						dbGAP											0													114.0	99.0	104.0					19																	36029507		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.371A>C	19.37:g.36029507A>C	ENSP00000222286:p.His124Pro		B2RC82|O60823|Q6JTT9|Q9HCU6	Missense_Mutation	SNP	pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	p.H124P	ENST00000222286.4	37	c.371	CCDS12465.1	19	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592785	0.86953	.	.	ENSG00000105679	ENST00000222286	T	0.52295	0.67	5.5	5.5	0.81552	Glyceraldehyde 3-phosphate dehydrogenase, NAD(P) binding domain (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.77987	0.4213	H	0.96365	3.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85005	0.0902	10	0.87932	D	0	-17.9785	13.5565	0.61761	1.0:0.0:0.0:0.0	.	124	O14556	G3PT_HUMAN	P	124	ENSP00000222286:H124P	ENSP00000222286:H124P	H	+	2	0	GAPDHS	40721347	1.000000	0.71417	0.908000	0.35775	0.990000	0.78478	9.250000	0.95477	2.067000	0.61834	0.533000	0.62120	CAC	GAPDHS	-	pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,pirsf_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1	ENSG00000105679		0.517	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAPDHS	HGNC	protein_coding	OTTHUMT00000460423.1	129	0.00	0	A	NM_014364		36029507	36029507	+1	no_errors	ENST00000222286	ensembl	human	known	69_37n	missense	106	10.92	13	SNP	0.998	C
GARNL3	84253	genome.wustl.edu	37	9	130152975	130152975	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:130152975A>C	ENST00000373387.4	+	27	3151	c.2799A>C	c.(2797-2799)aaA>aaC	p.K933N	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000314904.5_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.K911N	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	933					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CCAAATCAAAACCCCGGAAGC	0.572																																						dbGAP											0													96.0	108.0	104.0					9																	130152975		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2799A>C	9.37:g.130152975A>C	ENSP00000362485:p.Lys933Asn		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP	p.K933N	ENST00000373387.4	37	c.2799	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	A	12.50	1.955769	0.34471	.	.	ENSG00000136895	ENST00000435213;ENST00000373387	D;D	0.87412	-2.25;-2.25	5.97	2.2	0.27929	.	0.235594	0.46758	D	0.000265	T	0.70640	0.3247	N	0.19112	0.55	0.28986	N	0.888321	B;B	0.23650	0.089;0.089	B;B	0.19391	0.025;0.025	T	0.55062	-0.8199	9	.	.	.	.	1.2977	0.02073	0.5456:0.1502:0.1598:0.1444	.	933;911	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	N	911;933	ENSP00000396205:K911N;ENSP00000362485:K933N	.	K	+	3	2	GARNL3	129192796	0.377000	0.25106	0.898000	0.35279	0.598000	0.36846	1.694000	0.37752	0.516000	0.28340	0.533000	0.62120	AAA	GARNL3	-	NULL	ENSG00000136895		0.572	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3	186	0.00	0	A	NM_032293		130152975	130152975	+1	no_errors	ENST00000373387	ensembl	human	known	69_37n	missense	74	15.73	14	SNP	0.344	C
GATA3	2625	genome.wustl.edu	37	10	8111546	8111547	+	Frame_Shift_Ins	INS	-	-	TACT			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:8111546_8111547insTACT	ENST00000346208.3	+	5	1487_1488	c.1032_1033insTACT	c.(1033-1035)tacfs	p.-345fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.-346fs			P23771	GATA3_HUMAN	GATA binding protein 3						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						GTGGGCTCTACTACAAGCTTCA	0.554			"""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																																										-	-	-	SO:0001589	frameshift_variant	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	Exception_encountered	10.37:g.8111546_8111547insTACT	ENSP00000341619:p.Tyr345fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.K346fs	ENST00000346208.3	37	c.1035_1036	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.554	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	166	0.00	0	-	NM_001002295		8111546	8111547	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	92	26.98	34	INS	1.000:1.000	TACT
GATS	352954	genome.wustl.edu	37	7	99820290	99820290	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:99820290T>G	ENST00000436886.2	-	4	789				GATS_ENST00000543273.1_RNA|AC005071.1_ENST00000410550.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN	GATS, stromal antigen 3 opposite strand											endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCAGGCTGGTGACACAGAAC	0.587																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK095056	CCDS43621.1	7q22.1	2014-08-13	2009-04-08	2009-04-08	ENSG00000160844	ENSG00000239521			29954	protein-coding gene	gene with protein product	"""stromal antigen 3 opposite strand"""					12477932	Standard	NM_178831		Approved	DKFZp686B07267, STAG3OS	uc003uua.4	Q8NAP1	OTTHUMG00000155289	ENST00000436886.2:c.489+902A>C	7.37:g.99820290T>G			D6W5V0|Q68D93|Q6P198|Q6PII7|Q7Z720|Q86UK9	RNA	SNP	-	NULL	ENST00000436886.2	37	NULL	CCDS43621.1	7																																																																																			GATS	-	-	ENSG00000239521		0.587	GATS-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GATS	Clone_based_vega_gene	protein_coding		332	0.60	2	T	NM_178831		99820290	99820290	-1	no_errors	ENST00000328453	ensembl	human	known	69_37n	rna	302	12.46	43	SNP	1.000	G
GBA2	57704	genome.wustl.edu	37	9	35737781	35737781	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:35737781A>C	ENST00000378103.3	-	16	2992	c.2469T>G	c.(2467-2469)ggT>ggG	p.G823G	GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000378088.1_Silent_p.G124G|GBA2_ENST00000378094.4_Silent_p.G823G|GBA2_ENST00000545786.1_Silent_p.G829G	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	823					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGTAGACCACACCCACCCAGA	0.552																																						dbGAP											0													134.0	119.0	124.0					9																	35737781		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2469T>G	9.37:g.35737781A>C			D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.G829	ENST00000378103.3	37	c.2487	CCDS6589.1	9																																																																																			GBA2	-	pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	ENSG00000070610		0.552	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	HGNC	protein_coding	OTTHUMT00000055456.1	136	0.73	1	A	NM_020944		35737781	35737781	-1	no_errors	ENST00000545786	ensembl	human	known	69_37n	silent	110	15.38	20	SNP	0.845	C
GBA2	57704	genome.wustl.edu	37	9	35739052	35739052	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:35739052A>C	ENST00000378103.3	-	11	2265	c.1742T>G	c.(1741-1743)gTg>gGg	p.V581G	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'Flank|GBA2_ENST00000378094.4_Missense_Mutation_p.V581G|GBA2_ENST00000545786.1_Missense_Mutation_p.V587G	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	581					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTGCCATCACCCCACTCAT	0.587																																						dbGAP											0													78.0	73.0	75.0					9																	35739052		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.1742T>G	9.37:g.35739052A>C	ENSP00000367343:p.Val581Gly		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	p.V587G	ENST00000378103.3	37	c.1760	CCDS6589.1	9	.	.	.	.	.	.	.	.	.	.	A	5.235	0.228920	0.09916	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.69	1.79	0.24919	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.592720	0.17826	N	0.160709	T	0.27663	0.0680	L	0.47016	1.485	0.18873	N	0.999989	B;B;B	0.30973	0.302;0.006;0.21	B;B;B	0.26693	0.023;0.003;0.072	T	0.11542	-1.0583	9	0.23891	T	0.37	-0.0504	3.8857	0.09097	0.4271:0.0:0.161:0.4119	.	587;581;581	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	G	581;581;587	.	ENSP00000367334:V581G	V	-	2	0	GBA2	35729052	0.000000	0.05858	0.044000	0.18714	0.886000	0.51366	0.553000	0.23391	0.410000	0.25675	0.459000	0.35465	GTG	GBA2	-	pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type	ENSG00000070610		0.587	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GBA2	HGNC	protein_coding	OTTHUMT00000055456.1	141	0.69	1	A	NM_020944		35739052	35739052	-1	no_errors	ENST00000545786	ensembl	human	known	69_37n	missense	99	14.66	17	SNP	0.000	C
GBP7	388646	genome.wustl.edu	37	1	89618372	89618372	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:89618372T>G	ENST00000294671.2	-	4	545	c.407A>C	c.(406-408)cAc>cCc	p.H136P		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	136	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CAGGGCCTGGTGGTTGATGGT	0.493																																						dbGAP											0													88.0	82.0	84.0					1																	89618372		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.407A>C	1.37:g.89618372T>G	ENSP00000294671:p.His136Pro			Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.H136P	ENST00000294671.2	37	c.407	CCDS720.1	1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.005622	0.35415	.	.	ENSG00000213512	ENST00000294671	T	0.60672	0.17	3.69	1.27	0.21489	Guanylate-binding protein, N-terminal (1);	0.350056	0.30901	N	0.008653	T	0.47948	0.1473	M	0.90369	3.11	0.24486	N	0.994324	P	0.36599	0.56	B	0.42959	0.403	T	0.52711	-0.8539	10	0.72032	D	0.01	.	4.833	0.13451	0.0:0.1076:0.1894:0.703	.	136	Q8N8V2	GBP7_HUMAN	P	136	ENSP00000294671:H136P	ENSP00000294671:H136P	H	-	2	0	GBP7	89390960	1.000000	0.71417	0.997000	0.53966	0.347000	0.29111	2.328000	0.43867	0.067000	0.16545	0.172000	0.16884	CAC	GBP7	-	pfam_Guanylate-bd_N	ENSG00000213512		0.493	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP7	HGNC	protein_coding	OTTHUMT00000029401.1	218	0.89	2	T	NM_207398		89618372	89618372	-1	no_errors	ENST00000294671	ensembl	human	known	69_37n	missense	228	13.26	35	SNP	1.000	G
GBP4	115361	genome.wustl.edu	37	1	89659007	89659007	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:89659007T>G	ENST00000355754.6	-	4	549	c.452A>C	c.(451-453)cAc>cCc	p.H151P		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	151	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CAGGGCCTGGTGGTTGATGGT	0.483																																						dbGAP											0													119.0	111.0	114.0					1																	89659007		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.452A>C	1.37:g.89659007T>G	ENSP00000359490:p.His151Pro		B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.H151P	ENST00000355754.6	37	c.452	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.940341	0.73557	.	.	ENSG00000162654	ENST00000355754	T	0.60672	0.17	4.93	3.76	0.43208	Guanylate-binding protein, N-terminal (1);	0.349556	0.30959	N	0.008537	T	0.53546	0.1803	M	0.90369	3.11	0.25200	N	0.990067	P	0.36837	0.571	B	0.42959	0.403	T	0.56294	-0.8003	10	0.72032	D	0.01	.	9.3427	0.38089	0.1604:0.0:0.0:0.8396	.	151	Q96PP9	GBP4_HUMAN	P	151	ENSP00000359490:H151P	ENSP00000359490:H151P	H	-	2	0	GBP4	89431595	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.991000	0.70602	0.956000	0.37904	0.533000	0.62120	CAC	GBP4	-	pfam_Guanylate-bd_N	ENSG00000162654		0.483	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	HGNC	protein_coding	OTTHUMT00000029409.1	252	0.39	1	T	NM_052941		89659007	89659007	-1	no_errors	ENST00000355754	ensembl	human	known	69_37n	missense	242	10.99	30	SNP	1.000	G
GCK	2645	genome.wustl.edu	37	7	44190553	44190553	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:44190553A>C	ENST00000403799.3	-	4	953		c.e4+1		GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000476008.1_5'Flank|GCK_ENST00000345378.2_Splice_Site	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)						calcium ion import (GO:0070509)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|cellular response to glucose starvation (GO:0042149)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|NADP metabolic process (GO:0006739)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of gluconeogenesis (GO:0045721)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphorylation (GO:0042327)|regulation of glucose transport (GO:0010827)|regulation of glycolytic process (GO:0006110)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transport (GO:0043266)|second-messenger-mediated signaling (GO:0019932)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|secretory granule (GO:0030141)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|magnesium ion binding (GO:0000287)			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CACCCGGCCCACCTTATCGAT	0.567																																						dbGAP											0													107.0	100.0	102.0					7																	44190553		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF041014	CCDS5479.1, CCDS5480.1, CCDS5481.1	7p15.3-p15.1	2008-02-07	2008-02-07		ENSG00000106633	ENSG00000106633	2.7.1.2, 2.7.1.1		4195	protein-coding gene	gene with protein product		138079	"""maturity onset diabetes of the young 2"""	MODY2		1740341, 1502186	Standard	NM_033507		Approved	HK4	uc003tkk.1	P35557	OTTHUMG00000022903	ENST00000403799.3:c.483+1T>G	7.37:g.44190553A>C			A4D2J2|A4D2J3|Q05810	Splice_Site	SNP	-	e4+2	ENST00000403799.3	37	c.486+2	CCDS5479.1	7	.	.	.	.	.	.	.	.	.	.	a	24.5	4.533289	0.85812	.	.	ENSG00000106633	ENST00000403799;ENST00000395796;ENST00000345378;ENST00000437084	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0759	0.72077	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GCK	44157078	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	6.996000	0.76263	2.091000	0.63221	0.533000	0.62120	.	GCK	-	-	ENSG00000106633		0.567	GCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCK	HGNC	protein_coding	OTTHUMT00000251069.2	102	0.00	0	A		Intron	44190553	44190553	-1	no_errors	ENST00000345378	ensembl	human	known	69_37n	splice_site	127	12.33	18	SNP	1.000	C
GCC1	79571	genome.wustl.edu	37	7	127224901	127224901	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:127224901A>C	ENST00000321407.2	-	1	760	c.336T>G	c.(334-336)ggT>ggG	p.G112G	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	112					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCCCAAACTCACCCTTGGTGC	0.597																																						dbGAP											0													109.0	101.0	104.0					7																	127224901		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.336T>G	7.37:g.127224901A>C			Q9H6N7	Silent	SNP	pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP	p.G112	ENST00000321407.2	37	c.336	CCDS5796.1	7																																																																																			GCC1	-	NULL	ENSG00000179562		0.597	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	HGNC	protein_coding	OTTHUMT00000059911.3	123	0.79	1	A	NM_024523		127224901	127224901	-1	no_errors	ENST00000321407	ensembl	human	known	69_37n	silent	74	21.88	21	SNP	0.995	C
GCKR	2646	genome.wustl.edu	37	2	27745382	27745382	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:27745382A>C	ENST00000264717.2	+	18	1691	c.1628A>C	c.(1627-1629)cAc>cCc	p.H543P	GCKR_ENST00000424318.2_Missense_Mutation_p.H353P	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	543					carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CGAGCGATCCACTTTCCCCAG	0.557																																						dbGAP											0													114.0	101.0	105.0					2																	27745382		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1628A>C	2.37:g.27745382A>C	ENSP00000264717:p.His543Pro		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	NULL	p.H543P	ENST00000264717.2	37	c.1628	CCDS1757.1	2	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001544	0.54254	.	.	ENSG00000084734	ENST00000264717;ENST00000424318	T;T	0.24908	2.14;1.83	3.69	3.69	0.42338	.	0.152090	0.44688	D	0.000435	T	0.36826	0.0981	L	0.46157	1.445	0.36234	D	0.852802	D;D;D	0.71674	0.998;0.996;0.996	P;P;P	0.62560	0.904;0.875;0.875	T	0.46331	-0.9199	10	0.72032	D	0.01	-6.7582	8.9217	0.35615	1.0:0.0:0.0:0.0	.	353;541;543	F5H1P6;A8K731;Q14397	.;.;GCKR_HUMAN	P	543;353	ENSP00000264717:H543P;ENSP00000409109:H353P	ENSP00000264717:H543P	H	+	2	0	GCKR	27598886	0.968000	0.33430	0.895000	0.35142	0.786000	0.44442	1.993000	0.40747	1.652000	0.50683	0.454000	0.30748	CAC	GCKR	-	NULL	ENSG00000084734		0.557	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCKR	HGNC	protein_coding	OTTHUMT00000250214.1	86	0.00	0	A	NM_001486		27745382	27745382	+1	no_errors	ENST00000264717	ensembl	human	known	69_37n	missense	70	16.47	14	SNP	0.980	C
GDF9	2661	genome.wustl.edu	37	5	132199874	132199874	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:132199874T>G	ENST00000378673.2	-	2	1218	c.352A>C	c.(352-354)Acc>Ccc	p.T118P	UQCRQ_ENST00000378667.1_5'Flank|GDF9_ENST00000296875.2_Missense_Mutation_p.T118P|UQCRQ_ENST00000378665.1_5'Flank|GDF9_ENST00000464378.1_5'UTR|UQCRQ_ENST00000378670.3_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	118					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTACAGGGGGTGAAGAGCCGA	0.478																																						dbGAP											0													121.0	136.0	131.0					5																	132199874		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.352A>C	5.37:g.132199874T>G	ENSP00000367942:p.Thr118Pro		Q4VAW5	Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.T118P	ENST00000378673.2	37	c.352	CCDS4162.1	5	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533914	0.85812	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.60040	0.22;0.22	5.88	5.88	0.94601	.	0.097316	0.64402	D	0.000002	T	0.77791	0.4183	M	0.85859	2.78	0.43814	D	0.996376	D	0.76494	0.999	D	0.69654	0.965	T	0.79667	-0.1708	10	0.45353	T	0.12	.	15.9494	0.79820	0.0:0.0:0.0:1.0	.	118	O60383	GDF9_HUMAN	P	118	ENSP00000367942:T118P;ENSP00000296875:T118P	ENSP00000296875:T118P	T	-	1	0	GDF9	132227773	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	3.683000	0.54663	2.242000	0.73789	0.533000	0.62120	ACC	GDF9	-	NULL	ENSG00000164404		0.478	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF9	HGNC	protein_coding	OTTHUMT00000133060.2	282	0.00	0	T	NM_005260		132199874	132199874	-1	no_errors	ENST00000296875	ensembl	human	known	69_37n	missense	175	14.15	29	SNP	1.000	G
GDPD2	54857	genome.wustl.edu	37	X	69649592	69649592	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:69649592A>C	ENST00000374382.3	+	11	1409				GDPD2_ENST00000536730.1_Intron|GDPD2_ENST00000453994.2_Intron|GDPD2_ENST00000538649.1_Intron|GDPD2_ENST00000472623.1_3'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2						glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CCCTCTCCCCACCCTGCCTTC	0.557																																						dbGAP											0													37.0	29.0	31.0					X																	69649592		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1158+28A>C	X.37:g.69649592A>C			B4DRH4|B4DVC9|Q9NXJ6	RNA	SNP	-	NULL	ENST00000374382.3	37	NULL	CCDS14402.1	X																																																																																			GDPD2	-	-	ENSG00000130055		0.557	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	HGNC	protein_coding	OTTHUMT00000057070.1	79	0.00	0	A	NM_017711		69649592	69649592	+1	no_errors	ENST00000472623	ensembl	human	known	69_37n	rna	44	27.87	17	SNP	0.008	C
GDPD2	54857	genome.wustl.edu	37	X	69652254	69652254	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:69652254A>C	ENST00000374382.3	+	13	1656	c.1405A>C	c.(1405-1407)Acc>Ccc	p.T469P	GDPD2_ENST00000536730.1_Missense_Mutation_p.T390P|GDPD2_ENST00000453994.2_Missense_Mutation_p.T520P|GDPD2_ENST00000538649.1_Missense_Mutation_p.T390P|GDPD2_ENST00000472623.1_3'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	469	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TTCGGTCACCACCAACGACTG	0.527																																						dbGAP											0													188.0	150.0	163.0					X																	69652254		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1405A>C	X.37:g.69652254A>C	ENSP00000363503:p.Thr469Pro		B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.T520P	ENST00000374382.3	37	c.1558	CCDS14402.1	X	.	.	.	.	.	.	.	.	.	.	A	19.33	3.806399	0.70682	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.27402	1.67;1.67;1.67;1.67	4.77	4.77	0.60923	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.55529	0.1926	M	0.86502	2.82	0.42692	D	0.993583	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.61392	-0.7072	9	.	.	.	-19.2071	7.9908	0.30239	0.8154:0.0:0.0:0.1845	.	520;469	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	P	520;390;390;469	ENSP00000414019:T520P;ENSP00000445982:T390P;ENSP00000444601:T390P;ENSP00000363503:T469P	.	T	+	1	0	GDPD2	69568979	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.410000	0.52664	1.773000	0.52216	0.381000	0.24937	ACC	GDPD2	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000130055		0.527	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	HGNC	protein_coding	OTTHUMT00000057070.1	186	0.53	1	A	NM_017711		69652254	69652254	+1	no_errors	ENST00000453994	ensembl	human	known	69_37n	missense	225	11.76	30	SNP	1.000	C
GEMIN2	8487	genome.wustl.edu	37	14	39583533	39583533	+	Silent	SNP	T	T	G	rs200673114	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:39583533T>G	ENST00000308317.6	+	1	107	c.24T>G	c.(22-24)ggT>ggG	p.G8G	GEMIN2_ENST00000396249.2_Silent_p.G8G|GEMIN2_ENST00000250379.8_Silent_p.G8G	NM_003616.2	NP_003607.1	O14893	GEMI2_HUMAN	gem (nuclear organelle) associated protein 2	8					gene expression (GO:0010467)|mRNA processing (GO:0006397)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)											AACTGGCTGGTTTGAAAACCA	0.577													T|||	261	0.0521166	0.0272	0.085	5008	,	,		19161	0.0952		0.0596	False		,,,				2504	0.0102					dbGAP											0													45.0	42.0	43.0					14																	39583533		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF027150	CCDS9669.1, CCDS32068.1, CCDS41946.1	14q21.1	2011-08-04	2011-08-04	2011-08-04	ENSG00000092208	ENSG00000092208			10884	protein-coding gene	gene with protein product		602595	"""survival of motor neuron protein interacting protein 1"""	SIP1		9323130, 9323129, 11121410	Standard	NM_003616		Approved		uc001wuq.3	O14893	OTTHUMG00000028816	ENST00000308317.6:c.24T>G	14.37:g.39583533T>G			B2R9W8|Q2M3B3|Q9H4F5|Q9NS77|Q9NS78|Q9NS79	Missense_Mutation	SNP	NULL	p.F4V	ENST00000308317.6	37	c.10	CCDS9669.1	14	.	.	.	.	.	.	.	.	.	.	T	8.634	0.894277	0.17613	.	.	ENSG00000092208	ENST00000534684	.	.	.	5.51	-8.9	0.00782	.	.	.	.	.	T	0.15522	0.0374	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.21999	-1.0229	4	.	.	.	0.0566	2.2878	0.04131	0.1516:0.4103:0.2195:0.2187	.	.	.	.	V	3	.	.	F	+	1	0	GEMIN2	38653284	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-2.457000	0.01001	-1.104000	0.03015	-0.379000	0.06801	TTT	GEMIN2	-	NULL	ENSG00000092208		0.577	GEMIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN2	HGNC	protein_coding	OTTHUMT00000276730.2	114	0.00	0	T			39583533	39583533	+1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000531684	ensembl	human	known	69_37n	missense	43	25.42	15	SNP	0.000	G
GFRA3	2676	genome.wustl.edu	37	5	137589530	137589530	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:137589530T>G	ENST00000274721.3	-	6	1195	c.949A>C	c.(949-951)Acc>Ccc	p.T317P	GFRA3_ENST00000378362.3_Missense_Mutation_p.T286P	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	317					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCTCGGCAGGTGCAGCTTAAG	0.557																																						dbGAP											0													67.0	62.0	64.0					5																	137589530		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.949A>C	5.37:g.137589530T>G	ENSP00000274721:p.Thr317Pro		B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3	p.T317P	ENST00000274721.3	37	c.949	CCDS4201.1	5	.	.	.	.	.	.	.	.	.	.	T	17.08	3.297865	0.60086	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.64260	-0.09;-0.09	4.51	3.26	0.37387	GDNF/GAS1 (2);	0.053328	0.64402	D	0.000001	T	0.68879	0.3049	M	0.65498	2.005	0.31835	N	0.624246	D;D	0.63880	0.984;0.993	P;P	0.60949	0.741;0.881	T	0.71347	-0.4620	10	0.44086	T	0.13	-26.4014	6.5185	0.22262	0.2323:0.0:0.0:0.7677	.	286;317	O60609-2;O60609	.;GFRA3_HUMAN	P	317;286	ENSP00000274721:T317P;ENSP00000367613:T286P	ENSP00000274721:T317P	T	-	1	0	GFRA3	137617429	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.298000	0.43602	1.886000	0.54624	0.528000	0.53228	ACC	GFRA3	-	pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt	ENSG00000146013		0.557	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GFRA3	HGNC	protein_coding	OTTHUMT00000251277.1	128	0.78	1	T	NM_001496		137589530	137589530	-1	no_errors	ENST00000274721	ensembl	human	known	69_37n	missense	63	19.23	15	SNP	0.998	G
GGCX	2677	genome.wustl.edu	37	2	85781381	85781381	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:85781381A>C	ENST00000233838.4	-	7	854	c.774T>G	c.(772-774)ggT>ggG	p.G258G	GGCX_ENST00000430215.3_Silent_p.G201G|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	258					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GCAGCAGCCCACCCCAGTGCA	0.507																																						dbGAP											0													171.0	170.0	170.0					2																	85781381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.774T>G	2.37:g.85781381A>C			B4DMC5|E9PEE1|Q14415|Q6GU45	Silent	SNP	pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM	p.G258	ENST00000233838.4	37	c.774	CCDS1978.1	2																																																																																			GGCX	-	pfam_VKG_COase,smart_HTTM	ENSG00000115486		0.507	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGCX	HGNC	protein_coding	OTTHUMT00000252490.3	157	0.63	1	A	NM_000821		85781381	85781381	-1	no_errors	ENST00000233838	ensembl	human	known	69_37n	silent	131	13.82	21	SNP	0.732	C
GGT2	728441	genome.wustl.edu	37	22	21563116	21563116	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:21563116A>C	ENST00000401924.1	-	13	1897	c.1406T>G	c.(1405-1407)gTg>gGg	p.V469G	GGT2_ENST00000405188.4_Missense_Mutation_p.V459G|GGT2_ENST00000424627.1_Missense_Mutation_p.V469G			P36268	GGT2_HUMAN	gamma-glutamyltransferase 2	469					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	anchored component of external side of plasma membrane (GO:0031362)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)										AGCAGCTCCCACCACCATCCG	0.647																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			M30474		22q11.21	2012-04-19			ENSG00000133475	ENSG00000133475	2.3.2.2	"""Gamma-glutamyltransferases"""	4251	protein-coding gene	gene with protein product		137181		GGT		8104871, 18357469	Standard	XM_006724392		Approved		uc011aic.1	P36268	OTTHUMG00000150617	ENST00000401924.1:c.1406T>G	22.37:g.21563116A>C	ENSP00000385721:p.Val469Gly			Missense_Mutation	SNP	pfam_GGT_peptidase,prints_GGT_peptidase	p.V469G	ENST00000401924.1	37	c.1406		22	.	.	.	.	.	.	.	.	.	.	a	14.38	2.517778	0.44763	.	.	ENSG00000133475	ENST00000405188;ENST00000401924;ENST00000424627	T;T;T	0.08634	3.07;3.07;3.07	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	M	0.87827	2.91	0.80722	D	1	.	.	.	.	.	.	T	0.01734	-1.1285	8	0.87932	D	0	-39.5208	7.401	0.26965	1.0:0.0:0.0:0.0	.	.	.	.	G	459;469;469	ENSP00000385601:V459G;ENSP00000385721:V469G;ENSP00000402035:V469G	ENSP00000385721:V469G	V	-	2	0	GGT2	19893116	1.000000	0.71417	0.991000	0.47740	0.422000	0.31414	4.933000	0.63484	1.030000	0.39839	0.147000	0.16070	GTG	GGT2	-	pfam_GGT_peptidase	ENSG00000133475		0.647	GGT2-002	KNOWN	non_canonical_other|not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	GGT2	HGNC	protein_coding	OTTHUMT00000320092.2	38	0.00	0	A	XM_001129377		21563116	21563116	-1	no_errors	ENST00000401924	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	1.000	C
GHRHR	2692	genome.wustl.edu	37	7	31009536	31009536	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:31009536A>C	ENST00000326139.2	+	4	369	c.323A>C	c.(322-324)tAc>tCc	p.Y108S	GHRHR_ENST00000409316.1_5'UTR|GHRHR_ENST00000409904.3_Missense_Mutation_p.Y44S	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	108					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	TTTCCACCTTACCCTGTGGCC	0.572																																						dbGAP											0													154.0	124.0	134.0					7																	31009536		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.323A>C	7.37:g.31009536A>C	ENSP00000320180:p.Tyr108Ser		Q99863	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_GHRH_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt_1	p.Y108S	ENST00000326139.2	37	c.323	CCDS5432.1	7	.	.	.	.	.	.	.	.	.	.	A	19.74	3.884474	0.72410	.	.	ENSG00000106128	ENST00000326139;ENST00000409904;ENST00000409233;ENST00000337750	T;T;T	0.80393	0.23;0.78;-1.37	4.17	4.17	0.49024	GPCR, family 2, extracellular hormone receptor domain (3);	.	.	.	.	D	0.90638	0.7064	M	0.92555	3.32	0.50467	D	0.999879	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.994	D	0.91657	0.5339	9	0.72032	D	0.01	.	9.7961	0.40735	1.0:0.0:0.0:0.0	.	44;108;44	Q9HB45;Q02643;Q9HB44	.;GHRHR_HUMAN;.	S	108;44;44;44	ENSP00000320180:Y108S;ENSP00000387113:Y44S;ENSP00000338184:Y44S	ENSP00000320180:Y108S	Y	+	2	0	GHRHR	30976061	1.000000	0.71417	0.816000	0.32577	0.936000	0.57629	7.230000	0.78097	1.886000	0.54624	0.379000	0.24179	TAC	GHRHR	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_VIP_rcpt_1	ENSG00000106128		0.572	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHRHR	HGNC	protein_coding	OTTHUMT00000327967.2	146	0.67	1	A			31009536	31009536	+1	no_errors	ENST00000326139	ensembl	human	known	69_37n	missense	100	18.55	23	SNP	0.846	C
GINS2	51659	genome.wustl.edu	37	16	85711855	85711855	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:85711855A>G	ENST00000253462.3	-	5	621	c.521T>C	c.(520-522)cTc>cCc	p.L174P		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	174					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						CAGAGGCTGGAGGTTCGTGCG	0.537																																						dbGAP											0													96.0	92.0	94.0					16																	85711855		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.521T>C	16.37:g.85711855A>G	ENSP00000253462:p.Leu174Pro		D3DUM5|Q6IAG9	Missense_Mutation	SNP	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	p.L174P	ENST00000253462.3	37	c.521	CCDS10953.1	16	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909345	0.33721	.	.	ENSG00000131153	ENST00000253462	.	.	.	5.18	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.42381	0.1200	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20306	-1.0279	9	0.33940	T	0.23	-13.5849	10.6118	0.45425	0.9239:0.0:0.0761:0.0	.	174	Q9Y248	PSF2_HUMAN	P	174	.	ENSP00000253462:L174P	L	-	2	0	GINS2	84269356	1.000000	0.71417	0.977000	0.42913	0.660000	0.38997	5.695000	0.68279	0.931000	0.37242	0.533000	0.62120	CTC	GINS2	-	pirsf_GINS_Psf2_subgr	ENSG00000131153		0.537	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS2	HGNC	protein_coding	OTTHUMT00000269098.1	223	0.00	0	A	NM_016095		85711855	85711855	-1	no_errors	ENST00000253462	ensembl	human	known	69_37n	missense	137	19.65	34	SNP	1.000	G
GJA8	2703	genome.wustl.edu	37	1	147381059	147381059	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:147381059T>G	ENST00000369235.1	+	1	977	c.977T>G	c.(976-978)gTg>gGg	p.V326G	GJA8_ENST00000240986.4_Missense_Mutation_p.V326G			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	326					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TACGCTCAGGTGGGGGCACAA	0.627																																					Melanoma(76;1255 1795 8195 52096)	dbGAP											0													24.0	25.0	25.0					1																	147381059		2202	4300	6502	-	-	-	SO:0001583	missense	0			U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.977T>G	1.37:g.147381059T>G	ENSP00000358238:p.Val326Gly		A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50	p.V326G	ENST00000369235.1	37	c.977	CCDS30834.1	1	.	.	.	.	.	.	.	.	.	.	t	13.09	2.134600	0.37630	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	T;T	0.78246	-1.16;-1.16	4.63	4.63	0.57726	.	5.531380	0.00465	N	0.000115	T	0.50222	0.1603	N	0.19112	0.55	0.49130	D	0.999758	B	0.34181	0.44	B	0.38378	0.272	T	0.61212	-0.7108	10	0.23302	T	0.38	.	3.4379	0.07453	0.0:0.1787:0.2126:0.6087	.	326	P48165	CXA8_HUMAN	G	326	ENSP00000240986:V326G;ENSP00000358238:V326G	ENSP00000240986:V326G	V	+	2	0	GJA8	145847683	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	2.326000	0.43849	1.933000	0.56026	0.459000	0.35465	GTG	GJA8	-	pfam_Connexin50,prints_Connexin50	ENSG00000121634		0.627	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA8	HGNC	protein_coding	OTTHUMT00000060647.1	95	0.00	0	T	NM_005267		147381059	147381059	+1	no_errors	ENST00000240986	ensembl	human	known	69_37n	missense	88	15.24	16	SNP	1.000	G
GKAP1	80318	genome.wustl.edu	37	9	86421331	86421331	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:86421331A>C	ENST00000376371.2	-	3	502	c.102T>G	c.(100-102)ggT>ggG	p.G34G	GKAP1_ENST00000376365.3_Silent_p.G34G	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	34					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						TTCGACCTTTACCTTTTCCAG	0.423																																						dbGAP											0													76.0	72.0	73.0					9																	86421331		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.102T>G	9.37:g.86421331A>C			Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Silent	SNP	NULL	p.G34	ENST00000376371.2	37	c.102	CCDS35049.1	9																																																																																			GKAP1	-	NULL	ENSG00000165113		0.423	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GKAP1	HGNC	protein_coding	OTTHUMT00000052839.2	234	0.00	0	A	NM_025211		86421331	86421331	-1	no_errors	ENST00000376371	ensembl	human	known	69_37n	silent	168	14.57	29	SNP	1.000	C
GKAP1	80318	genome.wustl.edu	37	9	86421358	86421358	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:86421358A>C	ENST00000376371.2	-	3	475	c.75T>G	c.(73-75)agT>agG	p.S25R	GKAP1_ENST00000376365.3_Missense_Mutation_p.S25R	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	25					signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AATCAGAGCCACTGCCACTAT	0.398																																						dbGAP											0													60.0	60.0	60.0					9																	86421358		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014476	CCDS35049.1, CCDS47988.1	9q22.1	2008-02-05			ENSG00000165113	ENSG00000165113			17496	protein-coding gene	gene with protein product	"""cGMP-dependent protein kinase anchoring protein 42kDa"""	611356					Standard	NM_025211		Approved	GKAP42, FKSG21	uc004amy.3	Q5VSY0	OTTHUMG00000020106	ENST00000376371.2:c.75T>G	9.37:g.86421358A>C	ENSP00000365550:p.Ser25Arg		Q96LI0|Q9BYI1|Q9BYI2|Q9H225	Missense_Mutation	SNP	NULL	p.S25R	ENST00000376371.2	37	c.75	CCDS35049.1	9	.	.	.	.	.	.	.	.	.	.	A	21.3	4.130598	0.77549	.	.	ENSG00000165113	ENST00000376371;ENST00000376365;ENST00000485742	.	.	.	5.31	5.31	0.75309	.	0.095736	0.64402	D	0.000001	T	0.77738	0.4175	M	0.72479	2.2	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.80415	-0.1392	9	0.72032	D	0.01	-14.8341	14.2442	0.65978	1.0:0.0:0.0:0.0	.	25;25	Q5VSY0-2;Q5VSY0	.;GKAP1_HUMAN	R	25	.	ENSP00000365544:S25R	S	-	3	2	GKAP1	85611178	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.709000	0.47160	2.016000	0.59253	0.454000	0.30748	AGT	GKAP1	-	NULL	ENSG00000165113		0.398	GKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GKAP1	HGNC	protein_coding	OTTHUMT00000052839.2	261	0.38	1	A	NM_025211		86421358	86421358	-1	no_errors	ENST00000376371	ensembl	human	known	69_37n	missense	153	13.56	24	SNP	1.000	C
GLDN	342035	genome.wustl.edu	37	15	51687141	51687141	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:51687141T>G	ENST00000335449.6	+	5	707	c.651T>G	c.(649-651)ggT>ggG	p.G217G	GLDN_ENST00000396399.2_Silent_p.G93G	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	217	Collagen-like 2.				clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|microvillus organization (GO:0032528)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GAGAAAAGGGTGACAAAGGAG	0.587																																						dbGAP											0													114.0	99.0	104.0					15																	51687141		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417			29514	protein-coding gene	gene with protein product		608603	"""collomin"""	COLM		16039564, 12642876	Standard	XM_005254338		Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.651T>G	15.37:g.51687141T>G			Q6UXZ7|Q7Z359	Silent	SNP	pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like	p.G217	ENST00000335449.6	37	c.651	CCDS10140.2	15																																																																																			GLDN	-	pfam_Collagen	ENSG00000186417		0.587	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLDN	HGNC	protein_coding	OTTHUMT00000254667.2	210	0.47	1	T	NM_181789		51687141	51687141	+1	no_errors	ENST00000335449	ensembl	human	known	69_37n	silent	111	15.27	20	SNP	0.962	G
GLE1	2733	genome.wustl.edu	37	9	131300346	131300346	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:131300346A>C	ENST00000309971.4	+	13	1964	c.1858A>C	c.(1858-1860)Acc>Ccc	p.T620P	GLE1_ENST00000372770.4_Missense_Mutation_p.T620P|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000539582.1_Missense_Mutation_p.T366P|RP11-216B9.6_ENST00000426704.1_RNA	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	620					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TGTGACAGCCACCCTCCTCTT	0.502																																						dbGAP											0													156.0	106.0	123.0					9																	131300346		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1858A>C	9.37:g.131300346A>C	ENSP00000308622:p.Thr620Pro		O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	pfam_GLE1	p.T620P	ENST00000309971.4	37	c.1858	CCDS35154.1	9	.	.	.	.	.	.	.	.	.	.	A	28.4	4.919992	0.92249	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	T;T;T	0.74526	-0.85;-0.85;-0.85	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.86372	0.5917	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.992	D	0.87278	0.2290	10	0.51188	T	0.08	-24.6551	15.0735	0.72059	1.0:0.0:0.0:0.0	.	620;620	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	P	620;620;366	ENSP00000308622:T620P;ENSP00000361856:T620P;ENSP00000438670:T366P	ENSP00000308622:T620P	T	+	1	0	GLE1	130340167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.210000	0.95106	2.164000	0.68074	0.459000	0.35465	ACC	GLE1	-	pfam_GLE1	ENSG00000119392		0.502	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLE1	HGNC	protein_coding	OTTHUMT00000054456.1	142	0.00	0	A	NM_001003722		131300346	131300346	+1	no_errors	ENST00000309971	ensembl	human	known	69_37n	missense	138	14.81	24	SNP	1.000	C
GLG1	2734	genome.wustl.edu	37	16	74526923	74526923	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:74526923T>G	ENST00000422840.2	-	7	1165	c.1166A>C	c.(1165-1167)aAc>aCc	p.N389T	GLG1_ENST00000205061.5_Missense_Mutation_p.N389T|GLG1_ENST00000447066.2_Missense_Mutation_p.N378T	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	389					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCGCGGAAGGTTTTCCACATT	0.418																																						dbGAP											0													128.0	112.0	118.0					16																	74526923		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1166A>C	16.37:g.74526923T>G	ENSP00000405984:p.Asn389Thr		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	pfam_Cys-rich_GLG1_repeat	p.N389T	ENST00000422840.2	37	c.1166	CCDS45527.1	16	.	.	.	.	.	.	.	.	.	.	T	10.14	1.268911	0.23221	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.63	5.63	0.86233	.	0.092960	0.64402	D	0.000001	T	0.37489	0.1005	N	0.04508	-0.205	0.50813	D	0.999895	B;B;B	0.22146	0.056;0.061;0.065	B;B;B	0.23716	0.048;0.045;0.037	T	0.23762	-1.0179	9	0.27082	T	0.32	-3.1722	16.1339	0.81465	0.0:0.0:0.0:1.0	.	389;389;378	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	T	389;378;389	.	ENSP00000205061:N389T	N	-	2	0	GLG1	73084424	1.000000	0.71417	0.999000	0.59377	0.641000	0.38312	2.446000	0.44908	2.271000	0.75665	0.533000	0.62120	AAC	GLG1	-	pfam_Cys-rich_GLG1_repeat	ENSG00000090863		0.418	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GLG1	HGNC	protein_coding	OTTHUMT00000435750.1	163	0.00	0	T	NM_012201		74526923	74526923	-1	no_errors	ENST00000205061	ensembl	human	known	69_37n	missense	108	13.60	17	SNP	1.000	G
GLI2	2736	genome.wustl.edu	37	2	121728087	121728087	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:121728087A>C	ENST00000452319.1	+	7	1024	c.964A>C	c.(964-966)Acc>Ccc	p.T322P	GLI2_ENST00000361492.4_Missense_Mutation_p.T322P|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR					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)				GCCCTCACCCACCTTCCTGGC	0.632																																						dbGAP											0													133.0	115.0	121.0					2																	121728087		2203	4300	6503	-	-	-	SO:0001583	missense	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.964A>C	2.37:g.121728087A>C	ENSP00000390436:p.Thr322Pro			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T322P	ENST00000452319.1	37	c.964	CCDS33283.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.16|15.16	2.750758|2.750758	0.49257|0.49257	.|.	.|.	ENSG00000074047|ENSG00000074047	ENST00000440937|ENST00000452319;ENST00000361492	.|T;T	.|0.15718	.|2.4;2.4	4.65|4.65	4.65|4.65	0.58169|0.58169	.|.	.|0.181977	.|0.48286	.|D	.|0.000181	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	D|D;D	0.54964|0.76494	0.969|0.999;0.988	P|D;P	0.47827|0.75484	0.558|0.986;0.543	T|T	0.04017|0.04017	-1.0984|-1.0984	7|10	.|0.33940	.|T	.|0.23	.|.	14.5293|14.5293	0.67912|0.67912	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	192|322;322	F5H4D9|P10070;Q0VGA0	.|GLI2_HUMAN;.	P|P	192|322	.|ENSP00000390436:T322P;ENSP00000354586:T322P	.|ENSP00000354586:T322P	H|T	+|+	2|1	0|0	GLI2|GLI2	121444557|121444557	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	4.505000|4.505000	0.60421|0.60421	2.073000|2.073000	0.62155|0.62155	0.459000|0.459000	0.35465|0.35465	CAC|ACC	GLI2	-	NULL	ENSG00000074047		0.632	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	120	0.82	1	A	NM_005270		121728087	121728087	+1	no_errors	ENST00000361492	ensembl	human	known	69_37n	missense	130	16.13	25	SNP	0.998	C
GNL3	26354	genome.wustl.edu	37	3	52728121	52728121	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:52728121T>G	ENST00000418458.1	+	14	1740		c.e14+2		GNL3_ENST00000394799.2_Splice_Site|SNORD69_ENST00000391150.1_RNA|SNORD19_ENST00000410413.1_RNA|GLT8D1_ENST00000463827.1_5'Flank	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)						cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		CTACAGCAGGTGAGGCAGGCA	0.433																																						dbGAP											0													72.0	80.0	77.0					3																	52728121		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.1567+2T>G	3.37:g.52728121T>G			B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Splice_Site	SNP	-	e14+2	ENST00000418458.1	37	c.1567+2	CCDS2861.1	3	.	.	.	.	.	.	.	.	.	.	T	21.4	4.143654	0.77888	.	.	ENSG00000163938	ENST00000418458;ENST00000394799	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8106	0.63262	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GNL3	52703161	1.000000	0.71417	0.993000	0.49108	0.708000	0.40852	3.299000	0.51826	2.340000	0.79590	0.528000	0.53228	.	GNL3	-	-	ENSG00000163938		0.433	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	HGNC	protein_coding	OTTHUMT00000352032.1	181	0.00	0	T	NM_014366	Intron	52728121	52728121	+1	no_errors	ENST00000418458	ensembl	human	known	69_37n	splice_site	116	11.28	15	SNP	0.982	G
GOLGA2	2801	genome.wustl.edu	37	9	131020257	131020257	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:131020257A>C	ENST00000421699.2	-	22	2440		c.e22+1		GOLGA2_ENST00000609374.1_Splice_Site|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2						mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						AGACTCATTCACCTGCAGCTT	0.622																																						dbGAP											0													36.0	41.0	39.0					9																	131020257		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.2427+1T>G	9.37:g.131020257A>C			Q6GRM9|Q9BRB0|Q9NYF9	Splice_Site	SNP	-	e22+2	ENST00000421699.2	37	c.2427+2	CCDS6896.2	9	.	.	.	.	.	.	.	.	.	.	a	10.46	1.357134	0.24598	.	.	ENSG00000167110	ENST00000421699;ENST00000342583	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7144	0.69257	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GOLGA2	130060078	1.000000	0.71417	0.963000	0.40424	0.023000	0.10783	6.383000	0.73172	1.871000	0.54225	0.533000	0.62120	.	GOLGA2	-	-	ENSG00000167110		0.622	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA2	HGNC	protein_coding	OTTHUMT00000054358.2	42	0.00	0	A	NM_004486	Intron	131020257	131020257	-1	no_errors	ENST00000421699	ensembl	human	known	69_37n	splice_site	29	27.50	11	SNP	1.000	C
GOPC	57120	genome.wustl.edu	37	6	117894639	117894639	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:117894639T>G	ENST00000368498.2	-	5	882	c.807A>C	c.(805-807)ccA>ccC	p.P269P	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000535237.1_Silent_p.P269P|GOPC_ENST00000052569.6_Silent_p.P261P	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	269					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CATGGCCTGGTGGTGCTTGCA	0.428			O	ROS1	glioblastoma																																	dbGAP		Dom	yes		6	6q21	57120	golgi associated PDZ and coiled-coil motif containing		O	0													242.0	181.0	202.0					6																	117894639		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.807A>C	6.37:g.117894639T>G			A6NM30|Q59FS4|Q969U8	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P269	ENST00000368498.2	37	c.807	CCDS5117.1	6																																																																																			GOPC	-	superfamily_PDZ	ENSG00000047932		0.428	GOPC-002	KNOWN	basic|CCDS	protein_coding	GOPC	HGNC	protein_coding	OTTHUMT00000041988.1	181	0.55	1	T	NM_020399		117894639	117894639	-1	no_errors	ENST00000368498	ensembl	human	known	69_37n	silent	208	13.99	34	SNP	0.032	G
GPA33	10223	genome.wustl.edu	37	1	167059520	167059520	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:167059520A>C	ENST00000367868.3	-	1	348	c.5T>G	c.(4-6)gTg>gGg	p.V2G		NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	2						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CATCTTCCCCACCATGGTCTT	0.572																																						dbGAP											0													262.0	178.0	206.0					1																	167059520		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.5T>G	1.37:g.167059520A>C	ENSP00000356842:p.Val2Gly		Q5VZP6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V2G	ENST00000367868.3	37	c.5	CCDS1258.1	1	.	.	.	.	.	.	.	.	.	.	A	2.408	-0.335999	0.05278	.	.	ENSG00000143167	ENST00000367868	T	0.77358	-1.09	4.65	-4.47	0.03525	.	1.469040	0.04381	N	0.360754	T	0.36166	0.0957	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.11941	-1.0567	10	0.45353	T	0.12	.	1.6752	0.02820	0.3829:0.1306:0.3438:0.1427	.	2	Q99795	GPA33_HUMAN	G	2	ENSP00000356842:V2G	ENSP00000356842:V2G	V	-	2	0	GPA33	165326144	0.000000	0.05858	0.000000	0.03702	0.248000	0.25809	-0.684000	0.05173	-1.068000	0.03156	-0.290000	0.09829	GTG	GPA33	-	NULL	ENSG00000143167		0.572	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPA33	HGNC	protein_coding	OTTHUMT00000083245.1	233	0.00	0	A	NM_005814		167059520	167059520	-1	no_errors	ENST00000367868	ensembl	human	known	69_37n	missense	343	16.39	68	SNP	0.035	C
GPATCH8	23131	genome.wustl.edu	37	17	42478764	42478764	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:42478764A>C	ENST00000591680.1	-	8	711	c.681T>G	c.(679-681)ggT>ggG	p.G227G	GPATCH8_ENST00000434000.1_Silent_p.G149G	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	227							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CATCTTCTCCACCTTCTTCAT	0.428																																						dbGAP											0													125.0	130.0	128.0					17																	42478764		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.681T>G	17.37:g.42478764A>C			B9EGP9|O60300|Q8TB99	Silent	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.G227	ENST00000591680.1	37	c.681	CCDS32666.1	17																																																																																			GPATCH8	-	NULL	ENSG00000186566		0.428	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	174	0.00	0	A	NM_001002909		42478764	42478764	-1	no_errors	ENST00000591680	ensembl	human	known	69_37n	silent	80	21.57	22	SNP	0.994	C
GPN3	51184	genome.wustl.edu	37	12	110902884	110902884	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:110902884T>G	ENST00000228827.3	-	2	220				GPN3_ENST00000537466.2_Intron|GPN3_ENST00000543199.1_Intron|GPN3_ENST00000552180.1_Intron	NM_016301.3	NP_057385.3			GPN-loop GTPase 3											endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						TTCCTGAAGGTGGGGGGAGCC	0.502																																						dbGAP											0													94.0	77.0	83.0					12																	110902884		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC008416	CCDS9147.1, CCDS53830.1, CCDS53831.1	12q24.11	2012-12-18	2008-04-30	2008-04-30	ENSG00000111231	ENSG00000111231		"""GPN-loop GTPases"""	30186	protein-coding gene	gene with protein product			"""ATP binding domain 1 family, member C"""	ATPBD1C		12975309	Standard	NM_016301		Approved	MGC14560	uc021rdu.1	Q9UHW5	OTTHUMG00000169524	ENST00000228827.3:c.157+26A>C	12.37:g.110902884T>G				RNA	SNP	-	NULL	ENST00000228827.3	37	NULL	CCDS9147.1	12																																																																																			GPN3	-	-	ENSG00000111231		0.502	GPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPN3	HGNC	protein_coding	OTTHUMT00000404607.1	96	0.00	0	T	NM_016301		110902884	110902884	-1	no_errors	ENST00000547323	ensembl	human	known	69_37n	rna	114	21.23	31	SNP	0.129	G
GPR108	56927	genome.wustl.edu	37	19	6735968	6735968	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:6735968A>C	ENST00000264080.7	-	3	268	c.242T>G	c.(241-243)gTg>gGg	p.V81G	TRIP10_ENST00000600428.1_5'Flank|GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	81						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						ACTGAACCCCACCTGGTGGGT	0.552											OREG0025202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													30.0	34.0	33.0					19																	6735968		1861	4099	5960	-	-	-	SO:0001630	splice_region_variant	0				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.241-1T>G	19.37:g.6735968A>C		636	B9EJD7	Missense_Mutation	SNP	pfam_TM_rcpt_euk	p.V81G	ENST00000264080.7	37	c.242	CCDS42479.1	19	.	.	.	.	.	.	.	.	.	.	A	18.24	3.579362	0.65878	.	.	ENSG00000125734	ENST00000264080	T	0.26373	1.74	4.23	4.23	0.50019	.	0.238435	0.24725	U	0.036118	T	0.41627	0.1167	M	0.72894	2.215	0.80722	D	1	D	0.60575	0.988	P	0.56788	0.806	T	0.38286	-0.9668	10	0.72032	D	0.01	-17.574	9.9791	0.41802	1.0:0.0:0.0:0.0	.	81	Q9NPR9	GP108_HUMAN	G	81	ENSP00000264080:V81G	ENSP00000264080:V81G	V	-	2	0	GPR108	6686968	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	5.022000	0.64078	1.676000	0.50930	0.260000	0.18958	GTG	GPR108	-	NULL	ENSG00000125734		0.552	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR108	HGNC	protein_coding	OTTHUMT00000407508.2	118	0.00	0	A		Missense_Mutation	6735968	6735968	-1	no_errors	ENST00000264080	ensembl	human	known	69_37n	missense	79	16.67	16	SNP	1.000	C
GPR116	221395	genome.wustl.edu	37	6	46826738	46826738	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:46826738A>C	ENST00000283296.7	-	17	3190	c.2902T>G	c.(2902-2904)Tgg>Ggg	p.W968G	GPR116_ENST00000456426.2_Missense_Mutation_p.W826G|GPR116_ENST00000362015.4_Missense_Mutation_p.W968G|GPR116_ENST00000545669.1_Missense_Mutation_p.W397G|GPR116_ENST00000265417.7_Missense_Mutation_p.W968G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	968	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTGCTGTCCCACCCCCCTGTG	0.498																																					NSCLC(59;410 1274 8751 36715 50546)	dbGAP											0													90.0	79.0	83.0					6																	46826738		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2902T>G	6.37:g.46826738A>C	ENSP00000283296:p.Trp968Gly		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.W968G	ENST00000283296.7	37	c.2902	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	A	14.16	2.451211	0.43531	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	D;D;D;D;D	0.92699	-3.09;-3.09;-3.09;-3.09;-3.09	5.59	5.59	0.84812	GPS domain (3);	0.000000	0.64402	D	0.000017	D	0.97757	0.9264	H	0.98802	4.335	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.99564	1.0969	10	0.87932	D	0	-5.1645	15.7612	0.78082	1.0:0.0:0.0:0.0	.	397;523;968;826;968	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	G	968;968;968;826;339;968;397	ENSP00000283296:W968G;ENSP00000354563:W968G;ENSP00000412866:W826G;ENSP00000265417:W968G;ENSP00000441581:W397G	ENSP00000265417:W968G	W	-	1	0	GPR116	46934697	1.000000	0.71417	0.983000	0.44433	0.126000	0.20510	7.135000	0.77276	2.128000	0.65567	0.454000	0.30748	TGG	GPR116	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000069122		0.498	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	135	0.73	1	A	NM_015234		46826738	46826738	-1	no_errors	ENST00000265417	ensembl	human	known	69_37n	missense	133	13.07	20	SNP	0.999	C
GPR116	221395	genome.wustl.edu	37	6	46867794	46867794	+	Silent	SNP	A	A	C	rs574874282		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:46867794A>C	ENST00000283296.7	-	3	417	c.129T>G	c.(127-129)ggT>ggG	p.G43G	GPR116_ENST00000456426.2_Silent_p.G43G|GPR116_ENST00000362015.4_Silent_p.G43G|GPR116_ENST00000265417.7_Silent_p.G43G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	43					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTGCCTCTTCACCAGCTGGTT	0.403																																					NSCLC(59;410 1274 8751 36715 50546)	dbGAP											0													104.0	94.0	98.0					6																	46867794		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.129T>G	6.37:g.46867794A>C			O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.G43	ENST00000283296.7	37	c.129	CCDS4919.1	6																																																																																			GPR116	-	NULL	ENSG00000069122		0.403	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	106	0.93	1	A	NM_015234		46867794	46867794	-1	no_errors	ENST00000265417	ensembl	human	known	69_37n	silent	167	10.70	20	SNP	0.001	C
GPR125	166647	genome.wustl.edu	37	4	22414927	22414927	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:22414927A>C	ENST00000334304.5	-	14	2379	c.2110T>G	c.(2110-2112)Tgg>Ggg	p.W704G	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	704	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCGAAATCCCACCGGGCTGCA	0.478																																						dbGAP											0													142.0	138.0	140.0					4																	22414927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2110T>G	4.37:g.22414927A>C	ENSP00000334952:p.Trp704Gly		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.W704G	ENST00000334304.5	37	c.2110	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546832	0.86022	.	.	ENSG00000152990	ENST00000334304	D	0.88046	-2.33	5.87	5.87	0.94306	GPS domain (3);	0.000000	0.85682	D	0.000000	D	0.95601	0.8570	H	0.95114	3.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.96831	0.9611	10	0.87932	D	0	-22.2091	16.2631	0.82557	1.0:0.0:0.0:0.0	.	561;704	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	G	704	ENSP00000334952:W704G	ENSP00000334952:W704G	W	-	1	0	GPR125	22024025	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.920000	0.75799	2.239000	0.73571	0.528000	0.53228	TGG	GPR125	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000152990		0.478	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	152	0.00	0	A			22414927	22414927	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	missense	121	18.79	28	SNP	1.000	C
GPR144	347088	genome.wustl.edu	37	9	127228654	127228654	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:127228654A>C	ENST00000334810.1	+	11	1909	c.1909A>C	c.(1909-1911)Acc>Ccc	p.T637P				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	637	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)	4						CAACCACAGCACCAGCTTTGC	0.607																																						dbGAP											0													36.0	35.0	35.0					9																	127228654		692	1591	2283	-	-	-	SO:0001583	missense	0			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.1909A>C	9.37:g.127228654A>C	ENSP00000335156:p.Thr637Pro		Q86SL4|Q8NH12	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,prints_Pentaxin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.T637P	ENST00000334810.1	37	c.1909	CCDS48016.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.6|21.6	4.179353|4.179353	0.78564|0.78564	.|.	.|.	ENSG00000180264|ENSG00000180264	ENST00000439837|ENST00000334810	.|D	.|0.82255	.|-1.59	5.4|5.4	4.27|4.27	0.50696|0.50696	.|GPS domain (3);	.|.	.|.	.|.	.|.	D|D	0.93314|0.93314	0.7869|0.7869	H|H	0.97103|0.97103	3.94|3.94	0.51233|0.51233	D|D	0.999914|0.999914	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.93400|0.93400	0.6759|0.6759	5|9	.|0.87932	.|D	.|0	.|.	10.0747|10.0747	0.42353|0.42353	0.9198:0.0:0.0802:0.0|0.9198:0.0:0.0802:0.0	.|.	.|637	.|Q7Z7M1	.|GP144_HUMAN	P|P	358|637	.|ENSP00000335156:T637P	.|ENSP00000335156:T637P	H|T	+|+	2|1	0|0	GPR144|GPR144	126268475|126268475	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.954000|0.954000	0.61252|0.61252	4.210000|4.210000	0.58500|0.58500	0.880000|0.880000	0.35969|0.35969	0.533000|0.533000	0.62120|0.62120	CAC|ACC	GPR144	-	pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom	ENSG00000180264		0.607	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	HGNC	protein_coding	OTTHUMT00000054026.2	62	0.00	0	A	NM_182611		127228654	127228654	+1	no_errors	ENST00000334810	ensembl	human	known	69_37n	missense	67	12.99	10	SNP	1.000	C
GPR144	347088	genome.wustl.edu	37	9	127230865	127230865	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:127230865T>G	ENST00000334810.1	+	14	2222	c.2222T>G	c.(2221-2223)gTg>gGg	p.V741G				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	741					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)	4						TGGATGCTGGTGGAGGGGCTG	0.637																																						dbGAP											0													100.0	87.0	91.0					9																	127230865		692	1591	2283	-	-	-	SO:0001583	missense	0			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.2222T>G	9.37:g.127230865T>G	ENSP00000335156:p.Val741Gly		Q86SL4|Q8NH12	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,prints_Pentaxin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.V741G	ENST00000334810.1	37	c.2222	CCDS48016.1	9	.	.	.	.	.	.	.	.	.	.	T	16.97	3.268035	0.59540	.	.	ENSG00000180264	ENST00000334810	T	0.42131	0.98	4.7	2.33	0.28932	GPCR, family 2-like (1);	.	.	.	.	T	0.65913	0.2737	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65545	-0.6142	9	0.87932	D	0	.	7.9392	0.29948	0.0:0.174:0.0:0.826	.	741	Q7Z7M1	GP144_HUMAN	G	741	ENSP00000335156:V741G	ENSP00000335156:V741G	V	+	2	0	GPR144	126270686	1.000000	0.71417	0.999000	0.59377	0.760000	0.43138	2.705000	0.47127	0.189000	0.20188	0.459000	0.35465	GTG	GPR144	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000180264		0.637	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	HGNC	protein_coding	OTTHUMT00000054026.2	94	0.00	0	T	NM_182611		127230865	127230865	+1	no_errors	ENST00000334810	ensembl	human	known	69_37n	missense	97	14.16	16	SNP	1.000	G
GPR152	390212	genome.wustl.edu	37	11	67219117	67219117	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:67219117A>C	ENST00000312457.2	-	1	1083	c.1079T>G	c.(1078-1080)gTg>gGg	p.V360G	CABP4_ENST00000438189.2_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	360						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TGTGGGGTTCACCTGAGGCTG	0.627																																					Pancreas(102;800 1581 2723 7382 33622)	dbGAP											0													46.0	43.0	44.0					11																	67219117		2200	4295	6495	-	-	-	SO:0001583	missense	0			AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.1079T>G	11.37:g.67219117A>C	ENSP00000310255:p.Val360Gly		Q0VD88|Q86SM0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.V360G	ENST00000312457.2	37	c.1079	CCDS8165.1	11	.	.	.	.	.	.	.	.	.	.	A	15.30	2.791919	0.50102	.	.	ENSG00000175514	ENST00000312457	T	0.07908	3.15	4.11	-8.22	0.01037	.	0.488546	0.15059	N	0.282863	T	0.05456	0.0144	L	0.59436	1.845	0.09310	N	0.999998	B	0.14438	0.01	B	0.12156	0.007	T	0.29366	-1.0014	10	0.37606	T	0.19	.	1.1063	0.01694	0.1966:0.242:0.3237:0.2376	.	360	Q8TDT2	GP152_HUMAN	G	360	ENSP00000310255:V360G	ENSP00000310255:V360G	V	-	2	0	GPR152	66975693	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.858000	0.04281	-1.943000	0.01039	-0.415000	0.06103	GTG	GPR152	-	NULL	ENSG00000175514		0.627	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR152	HGNC	protein_coding	OTTHUMT00000397623.1	133	0.74	1	A			67219117	67219117	-1	no_errors	ENST00000312457	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	0.000	C
GPR25	2848	genome.wustl.edu	37	1	200842891	200842891	+	Silent	SNP	G	G	A			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:200842891G>A	ENST00000304244.2	+	1	809	c.726G>A	c.(724-726)tcG>tcA	p.S242S		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	242					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGAGGAACTCGCTGCGCATCA	0.701																																						dbGAP											0													30.0	34.0	33.0					1																	200842891		2201	4294	6495	-	-	-	SO:0001819	synonymous_variant	0			U91939	CCDS1405.1	1q32.1	2012-08-21			ENSG00000170128	ENSG00000170128		"""GPCR / Class A : Orphans"""	4480	protein-coding gene	gene with protein product		602174				9020062	Standard	NM_005298		Approved		uc001gvn.2	O00155	OTTHUMG00000035788	ENST00000304244.2:c.726G>A	1.37:g.200842891G>A			A0AVJ5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.S242	ENST00000304244.2	37	c.726	CCDS1405.1	1																																																																																			GPR25	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000170128		0.701	GPR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR25	HGNC	protein_coding	OTTHUMT00000087056.1	10	0.00	0	G	NM_005298		200842891	200842891	+1	no_errors	ENST00000304244	ensembl	human	known	69_37n	silent	23	17.24	5	SNP	0.992	A
GPR75	10936	genome.wustl.edu	37	2	54081454	54081454	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:54081454A>C	ENST00000394705.2	-	2	710	c.440T>G	c.(439-441)gTg>gGg	p.V147G	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	147					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTTCCCCAACACCATCCGGAG	0.572																																						dbGAP											0													114.0	104.0	107.0					2																	54081454		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.440T>G	2.37:g.54081454A>C	ENSP00000378195:p.Val147Gly		B2RC02|Q6NWR2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V147G	ENST00000394705.2	37	c.440	CCDS1849.1	2	.	.	.	.	.	.	.	.	.	.	A	15.66	2.898352	0.52227	.	.	ENSG00000119737	ENST00000394705	T	0.77877	-1.13	5.74	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	.	.	.	0.80722	D	1	D	0.54047	0.964	P	0.51324	0.666	T	0.80605	-0.1308	9	0.87932	D	0	-10.1191	9.4279	0.38592	0.8576:0.0:0.1424:0.0	.	147	O95800	GPR75_HUMAN	G	147	ENSP00000378195:V147G	ENSP00000378195:V147G	V	-	2	0	GPR75	53934958	1.000000	0.71417	0.983000	0.44433	0.563000	0.35712	5.761000	0.68801	1.010000	0.39314	0.454000	0.30748	GTG	GPR75	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000119737		0.572	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR75	HGNC	protein_coding	OTTHUMT00000251403.2	142	0.69	1	A			54081454	54081454	-1	no_errors	ENST00000394705	ensembl	human	known	69_37n	missense	75	18.48	17	SNP	1.000	C
GPR83	10888	genome.wustl.edu	37	11	94134098	94134098	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:94134098T>G	ENST00000243673.2	-	1	487	c.316A>C	c.(316-318)Acc>Ccc	p.T106P	GPR83_ENST00000539203.2_Missense_Mutation_p.T106P	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	106					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAGAGGCTGGTGGCCGAGTGC	0.552																																						dbGAP											0													73.0	67.0	69.0					11																	94134098		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.316A>C	11.37:g.94134098T>G	ENSP00000243673:p.Thr106Pro		B0M0K5|Q6NWR4|Q9P1Y8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	p.T106P	ENST00000243673.2	37	c.316	CCDS8297.1	11	.	.	.	.	.	.	.	.	.	.	T	27.1	4.799476	0.90538	.	.	ENSG00000123901	ENST00000243673;ENST00000539203	T;T	0.40476	1.03;1.03	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64000	0.2559	M	0.87617	2.895	0.80722	D	1	D	0.56746	0.977	P	0.57502	0.822	T	0.71731	-0.4504	10	0.66056	D	0.02	.	14.0335	0.64632	0.0:0.0:0.0:1.0	.	106	Q9NYM4	GPR83_HUMAN	P	106	ENSP00000243673:T106P;ENSP00000441550:T106P	ENSP00000243673:T106P	T	-	1	0	GPR83	93773746	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.018000	0.70811	1.908000	0.55244	0.374000	0.22700	ACC	GPR83	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	ENSG00000123901		0.552	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR83	HGNC	protein_coding	OTTHUMT00000396232.1	141	0.70	1	T	NM_016540		94134098	94134098	-1	no_errors	ENST00000243673	ensembl	human	known	69_37n	missense	73	21.51	20	SNP	1.000	G
GPR84	53831	genome.wustl.edu	37	12	54757388	54757388	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:54757388T>G	ENST00000551809.1	-	1	883	c.248A>C	c.(247-249)cAc>cCc	p.H83P	GPR84_ENST00000267015.3_Missense_Mutation_p.H83P|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCAGTGCAGGTGGAGGTAGGT	0.572																																						dbGAP											0													144.0	127.0	132.0					12																	54757388		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.248A>C	12.37:g.54757388T>G	ENSP00000450310:p.His83Pro		B6V9G7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.H83P	ENST00000551809.1	37	c.248	CCDS8878.1	12	.	.	.	.	.	.	.	.	.	.	T	21.8	4.200603	0.79015	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.37058	1.22;1.22	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.58148	0.2102	M	0.73962	2.25	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.58842	-0.7565	10	0.40728	T	0.16	-24.0409	13.3521	0.60607	0.0:0.0:0.0:1.0	.	83	Q9NQS5	GPR84_HUMAN	P	83	ENSP00000267015:H83P;ENSP00000450310:H83P	ENSP00000267015:H83P	H	-	2	0	GPR84	53043655	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.396000	0.59684	2.104000	0.64026	0.454000	0.30748	CAC	GPR84	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000139572		0.572	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPR84	HGNC	protein_coding	OTTHUMT00000406156.1	271	0.36	1	T			54757388	54757388	-1	no_errors	ENST00000267015	ensembl	human	known	69_37n	missense	140	20.00	35	SNP	1.000	G
GPR84	53831	genome.wustl.edu	37	12	54757398	54757398	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:54757398T>G	ENST00000551809.1	-	1	873	c.238A>C	c.(238-240)Acc>Ccc	p.T80P	GPR84_ENST00000267015.3_Missense_Mutation_p.T80P|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						TGGAGGTAGGTGTCCACAGAG	0.577																																						dbGAP											0													164.0	144.0	151.0					12																	54757398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.238A>C	12.37:g.54757398T>G	ENSP00000450310:p.Thr80Pro		B6V9G7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.T80P	ENST00000551809.1	37	c.238	CCDS8878.1	12	.	.	.	.	.	.	.	.	.	.	T	16.59	3.164744	0.57476	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	T;T	0.37915	1.17;1.17	5.21	4.0	0.46444	GPCR, rhodopsin-like superfamily (1);	0.080641	0.49305	D	0.000144	T	0.49508	0.1561	M	0.61703	1.905	0.44129	D	0.996916	D	0.64830	0.994	D	0.63192	0.912	T	0.46569	-0.9182	10	0.45353	T	0.12	-24.6358	8.6573	0.34071	0.2578:0.0:0.0:0.7422	.	80	Q9NQS5	GPR84_HUMAN	P	80	ENSP00000267015:T80P;ENSP00000450310:T80P	ENSP00000267015:T80P	T	-	1	0	GPR84	53043665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.293000	0.33353	2.104000	0.64026	0.454000	0.30748	ACC	GPR84	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000139572		0.577	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPR84	HGNC	protein_coding	OTTHUMT00000406156.1	277	0.72	2	T			54757398	54757398	-1	no_errors	ENST00000267015	ensembl	human	known	69_37n	missense	146	13.10	22	SNP	1.000	G
GPRIN3	285513	genome.wustl.edu	37	4	90169455	90169455	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:90169455T>G	ENST00000609438.1	-	2	2325	c.1807A>C	c.(1807-1809)Acc>Ccc	p.T603P	GPRIN3_ENST00000333209.4_Missense_Mutation_p.T603P	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	603										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTCAGGCTGGTGGCTGTCTTG	0.562																																						dbGAP											0													92.0	94.0	94.0					4																	90169455		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1807A>C	4.37:g.90169455T>G	ENSP00000476603:p.Thr603Pro		Q8IVE4	Missense_Mutation	SNP	NULL	p.T603P	ENST00000609438.1	37	c.1807	CCDS34030.1	4	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174183	0.57692	.	.	ENSG00000185477	ENST00000333209	T	0.12147	2.71	5.64	-7.72	0.01250	.	0.899099	0.09046	N	0.856538	T	0.12518	0.0304	N	0.14661	0.345	0.09310	N	1	D	0.53151	0.958	P	0.51229	0.663	T	0.16808	-1.0390	10	0.38643	T	0.18	-0.0453	18.5097	0.90911	0.0:0.7135:0.0:0.2865	.	603	Q6ZVF9	GRIN3_HUMAN	P	603	ENSP00000328672:T603P	ENSP00000328672:T603P	T	-	1	0	GPRIN3	90388478	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.366000	0.07563	-1.799000	0.01248	-0.290000	0.09829	ACC	GPRIN3	-	NULL	ENSG00000185477		0.562	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN3	HGNC	protein_coding	OTTHUMT00000363540.2	94	0.00	0	T	NM_198281		90169455	90169455	-1	no_errors	ENST00000333209	ensembl	human	known	69_37n	missense	64	17.72	14	SNP	0.000	G
GRAMD1A	57655	genome.wustl.edu	37	19	35505210	35505210	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:35505210A>C	ENST00000317991.5	+	10	1180	c.988A>C	c.(988-990)Acc>Ccc	p.T330P	GRAMD1A_ENST00000599564.1_Missense_Mutation_p.T417P|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.T323P|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.T96P	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	330						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CGGGCCCACCACCCTGGGCCC	0.647																																						dbGAP											0													59.0	70.0	66.0					19																	35505210		1998	4184	6182	-	-	-	SO:0001583	missense	0			AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.988A>C	19.37:g.35505210A>C	ENSP00000441032:p.Thr330Pro		A6NKY7|Q8NC77|Q9P1Z5	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.T330P	ENST00000317991.5	37	c.988	CCDS42546.1	19	.	.	.	.	.	.	.	.	.	.	A	10.39	1.336997	0.24253	.	.	ENSG00000089351	ENST00000453966;ENST00000504615;ENST00000317991;ENST00000411896	T;T;T	0.42900	0.96;2.01;2.01	4.44	-0.322	0.12713	.	1.306310	0.05167	N	0.498974	T	0.22859	0.0552	N	0.17474	0.49	0.23425	N	0.997701	B;B;B;B;B	0.27316	0.0;0.0;0.0;0.175;0.0	B;B;B;B;B	0.26416	0.001;0.0;0.0;0.069;0.0	T	0.17776	-1.0358	10	0.21540	T	0.41	.	2.0633	0.03597	0.1508:0.0912:0.2861:0.4718	.	330;330;96;323;417	Q96CP6-3;Q96CP6;B3KQF7;Q96CP6-2;F5GZ02	.;GRM1A_HUMAN;.;.;.	P	417;96;330;323	ENSP00000423728:T96P;ENSP00000441032:T330P;ENSP00000439267:T323P	ENSP00000441032:T330P	T	+	1	0	GRAMD1A	40197050	0.001000	0.12720	0.873000	0.34254	0.899000	0.52679	-0.408000	0.07169	0.230000	0.21059	-0.669000	0.03829	ACC	GRAMD1A	-	NULL	ENSG00000089351		0.647	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	GRAMD1A	HGNC	protein_coding	OTTHUMT00000461557.1	80	0.00	0	A	NM_020895		35505210	35505210	+1	no_errors	ENST00000317991	ensembl	human	known	69_37n	missense	29	14.29	5	SNP	0.893	C
GRAMD1C	54762	genome.wustl.edu	37	3	113649659	113649659	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:113649659A>C	ENST00000358160.4	+	11	1681	c.1189A>C	c.(1189-1191)Act>Cct	p.T397P	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.T192P|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.T230P|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.T126P|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	397						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TGGAAAATGCACTGCTGCCAC	0.448																																						dbGAP											0													115.0	109.0	111.0					3																	113649659		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1189A>C	3.37:g.113649659A>C	ENSP00000350881:p.Thr397Pro		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.T397P	ENST00000358160.4	37	c.1189	CCDS33826.1	3	.	.	.	.	.	.	.	.	.	.	A	18.92	3.726139	0.69074	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000462838;ENST00000440446	T;T;T;T	0.50277	1.28;0.76;0.8;0.75	5.62	5.62	0.85841	.	0.105894	0.64402	D	0.000004	T	0.67979	0.2951	M	0.76328	2.33	0.47245	D	0.999366	D;D	0.89917	1.0;0.999	D;D	0.83275	0.989;0.996	T	0.71787	-0.4487	10	0.72032	D	0.01	.	13.3622	0.60663	1.0:0.0:0.0:0.0	.	230;397	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	P	397;126;230;192;192	ENSP00000350881:T397P;ENSP00000399844:T126P;ENSP00000419132:T230P;ENSP00000408135:T192P	ENSP00000350881:T397P	T	+	1	0	GRAMD1C	115132349	1.000000	0.71417	0.839000	0.33178	0.691000	0.40173	5.002000	0.63952	2.150000	0.67090	0.533000	0.62120	ACT	GRAMD1C	-	NULL	ENSG00000178075		0.448	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	HGNC	protein_coding	OTTHUMT00000354733.1	128	0.00	0	A	NM_017577		113649659	113649659	+1	no_errors	ENST00000358160	ensembl	human	known	69_37n	missense	117	18.18	26	SNP	1.000	C
GRB14	2888	genome.wustl.edu	37	2	165353754	165353754	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:165353754T>G	ENST00000263915.3	-	11	1799	c.1261A>C	c.(1261-1263)Act>Cct	p.T421P	GRB14_ENST00000497306.1_5'Flank|GRB14_ENST00000543549.1_Missense_Mutation_p.T334P	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	421					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GAAGAGGCAGTGGGGCTACCG	0.423																																						dbGAP											0													121.0	119.0	120.0					2																	165353754		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1261A>C	2.37:g.165353754T>G	ENSP00000263915:p.Thr421Pro		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.T421P	ENST00000263915.3	37	c.1261	CCDS2222.1	2	.	.	.	.	.	.	.	.	.	.	T	9.655	1.142496	0.21205	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;D	0.92446	1.8;1.83;-3.04	5.49	5.49	0.81192	.	0.203411	0.52532	D	0.000068	D	0.85336	0.5673	N	0.25144	0.715	0.33633	D	0.606327	B;B	0.10296	0.0;0.003	B;B	0.10450	0.002;0.005	D	0.84535	0.0635	10	0.35671	T	0.21	-4.3388	10.781	0.46377	0.1415:0.0:0.0:0.8585	.	334;421	B7Z7F9;Q14449	.;GRB14_HUMAN	P	421;334;376	ENSP00000263915:T421P;ENSP00000443699:T334P;ENSP00000416786:T376P	ENSP00000263915:T421P	T	-	1	0	GRB14	165062000	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	2.593000	0.46180	2.092000	0.63282	0.533000	0.62120	ACT	GRB14	-	NULL	ENSG00000115290		0.423	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB14	HGNC	protein_coding	OTTHUMT00000255180.2	231	0.00	0	T			165353754	165353754	-1	no_errors	ENST00000263915	ensembl	human	known	69_37n	missense	162	10.99	20	SNP	1.000	G
GRID1	2894	genome.wustl.edu	37	10	87966206	87966206	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:87966206T>G	ENST00000327946.7	-	3	520	c.435A>C	c.(433-435)ccA>ccC	p.P145P		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	145					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						GGCGGACGGGTGGTCTCGAAG	0.617										Multiple Myeloma(13;0.14)																												dbGAP											0													172.0	116.0	135.0					10																	87966206		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.435A>C	10.37:g.87966206T>G			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.P145	ENST00000327946.7	37	c.435	CCDS31236.1	10																																																																																			GRID1	-	pfam_ANF_lig-bd_rcpt	ENSG00000182771		0.617	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	124	0.00	0	T	XM_043613		87966206	87966206	-1	no_errors	ENST00000327946	ensembl	human	known	69_37n	silent	65	16.67	13	SNP	0.000	G
GRID2	2895	genome.wustl.edu	37	4	94006294	94006294	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:94006294T>G	ENST00000282020.4	+	3	651	c.393T>G	c.(391-393)tgT>tgG	p.C131W	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	131					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		GGAGTGGCTGTGGACTCACCC	0.547																																						dbGAP											0													118.0	105.0	110.0					4																	94006294		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.393T>G	4.37:g.94006294T>G	ENSP00000282020:p.Cys131Trp		E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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.C131W	ENST00000282020.4	37	c.393	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	T	15.31	2.795579	0.50208	.	.	ENSG00000152208	ENST00000282020	D	0.82711	-1.64	5.23	-0.262	0.12958	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.85665	0.5749	L	0.47190	1.495	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.996	D	0.83422	0.0033	10	0.87932	D	0	.	10.5199	0.44912	0.0:0.3349:0.0:0.6651	.	131;72	O43424;B4DYB9	GRID2_HUMAN;.	W	131	ENSP00000282020:C131W	ENSP00000282020:C131W	C	+	3	2	GRID2	94225317	0.996000	0.38824	0.997000	0.53966	0.999000	0.98932	0.371000	0.20450	-0.167000	0.10871	0.533000	0.62120	TGT	GRID2	-	pfam_ANF_lig-bd_rcpt	ENSG00000152208		0.547	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	129	0.77	1	T			94006294	94006294	+1	no_errors	ENST00000282020	ensembl	human	known	69_37n	missense	88	22.61	26	SNP	0.998	G
GRIK4	2900	genome.wustl.edu	37	11	120837987	120837987	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:120837987T>G	ENST00000527524.2	+	19	2637	c.2350T>G	c.(2350-2352)Tgg>Ggg	p.W784G	GRIK4_ENST00000438375.2_Missense_Mutation_p.W784G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	784					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCGCAAATGGTGGGAAGGAGG	0.567																																						dbGAP											0													103.0	91.0	95.0					11																	120837987		2203	4299	6502	-	-	-	SO:0001583	missense	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.2350T>G	11.37:g.120837987T>G	ENSP00000435648:p.Trp784Gly		A8K9L1	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.W784G	ENST00000527524.2	37	c.2350	CCDS8433.1	11	.	.	.	.	.	.	.	.	.	.	T	23.3	4.394547	0.83011	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.11063	2.81;2.81	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.40067	0.1102	H	0.96430	3.82	0.80722	D	1	P	0.41008	0.735	P	0.51229	0.663	T	0.54931	-0.8219	10	0.87932	D	0	.	15.1041	0.72306	0.0:0.0:0.0:1.0	.	784	Q16099	GRIK4_HUMAN	G	784	ENSP00000435648:W784G;ENSP00000404063:W784G	ENSP00000404063:W784G	W	+	1	0	GRIK4	120343197	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.977000	0.88081	2.052000	0.61016	0.460000	0.39030	TGG	GRIK4	-	pfam_Iontro_glu_rcpt,smart_Iontro_glu_rcpt	ENSG00000149403		0.567	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	190	0.00	0	T	NM_014619		120837987	120837987	+1	no_errors	ENST00000527524	ensembl	human	known	69_37n	missense	122	10.22	14	SNP	1.000	G
GRIN2A	2903	genome.wustl.edu	37	16	9862803	9862803	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:9862803T>G	ENST00000396573.2	-	13	2809	c.2500A>C	c.(2500-2502)Acc>Ccc	p.T834P	GRIN2A_ENST00000404927.2_Missense_Mutation_p.T834P|GRIN2A_ENST00000562109.1_Missense_Mutation_p.T834P|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T677P|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T834P|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T834P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	834					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGATGAAGGTGATGAGGCTA	0.582																																						dbGAP											0													99.0	81.0	87.0					16																	9862803		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2500A>C	16.37:g.9862803T>G	ENSP00000379818:p.Thr834Pro		O00669|Q17RZ6	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T834P	ENST00000396573.2	37	c.2500	CCDS10539.1	16	.	.	.	.	.	.	.	.	.	.	T	20.7	4.035410	0.75617	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	M	0.68317	2.08	0.58432	D	0.99999	D;D;D	0.76494	0.999;0.999;0.997	D;D;P	0.81914	0.995;0.988;0.829	T	0.61633	-0.7023	9	.	.	.	.	12.9416	0.58348	0.0:0.0:0.0:1.0	.	677;834;834	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	P	834;834;677;834;834	ENSP00000379818:T834P;ENSP00000385872:T834P;ENSP00000441572:T677P;ENSP00000332549:T834P;ENSP00000379820:T834P	.	T	-	1	0	GRIN2A	9770304	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.053000	0.64269	1.692000	0.51112	0.460000	0.39030	ACC	GRIN2A	-	prints_NMDA_rcpt	ENSG00000183454		0.582	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	91	0.00	0	T			9862803	9862803	-1	no_errors	ENST00000330684	ensembl	human	known	69_37n	missense	59	24.69	20	SNP	1.000	G
GRIN2B	2904	genome.wustl.edu	37	12	13720038	13720038	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:13720038T>G	ENST00000609686.1	-	12	2728	c.2519A>C	c.(2518-2520)cAc>cCc	p.H840P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	840					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATAGAAAAGGTGTTCGCAGAT	0.502																																						dbGAP											0													132.0	111.0	118.0					12																	13720038		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2519A>C	12.37:g.13720038T>G	ENSP00000477455:p.His840Pro		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.H840P	ENST00000609686.1	37	c.2519	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	T	25.0	4.588324	0.86851	.	.	ENSG00000150086	ENST00000279593	T	0.56611	0.45	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74343	-0.3696	10	0.72032	D	0.01	.	15.4838	0.75548	0.0:0.0:0.0:1.0	.	840	Q13224	NMDE2_HUMAN	P	840	ENSP00000279593:H840P	ENSP00000279593:H840P	H	-	2	0	GRIN2B	13611305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.035000	0.88872	2.065000	0.61736	0.528000	0.53228	CAC	GRIN2B	-	pfam_NMDAR2_C,prints_NMDA_rcpt	ENSG00000150086		0.502	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	182	0.00	0	T			13720038	13720038	-1	no_errors	ENST00000279593	ensembl	human	known	69_37n	missense	142	11.25	18	SNP	1.000	G
GRINA	2907	genome.wustl.edu	37	8	145065974	145065974	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:145065974T>G	ENST00000313269.5	+	3	770		c.e3+2		GRINA_ENST00000395068.4_Splice_Site	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)							integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATCCGCAAGGTGGGTAGGGGC	0.607																																						dbGAP											0													94.0	89.0	90.0					8																	145065974		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.492+2T>G	8.37:g.145065974T>G			B3KXM7|O43836|Q8IVW7	Splice_Site	SNP	-	e2+2	ENST00000313269.5	37	c.492+2	CCDS34961.1	8	.	.	.	.	.	.	.	.	.	.	T	18.15	3.560629	0.65538	.	.	ENSG00000178719	ENST00000313269;ENST00000529301;ENST00000395068;ENST00000537637;ENST00000534791;ENST00000533044;ENST00000527194	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1224	0.48298	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRINA	145137962	1.000000	0.71417	0.999000	0.59377	0.909000	0.53808	4.726000	0.61986	1.898000	0.54952	0.529000	0.55759	.	GRINA	-	-	ENSG00000178719		0.607	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GRINA	HGNC	protein_coding	OTTHUMT00000384048.1	158	0.00	0	T	NM_001009184	Intron	145065974	145065974	+1	no_errors	ENST00000313269	ensembl	human	known	69_37n	splice_site	124	21.12	34	SNP	1.000	G
GRM2	2912	genome.wustl.edu	37	3	51746747	51746747	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:51746747A>C	ENST00000395052.3	+	3	943	c.709A>C	c.(709-711)Acc>Ccc	p.T237P	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.T237P	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	237					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGTGTGGCCACCTCGGAGAA	0.637																																						dbGAP											0													49.0	46.0	47.0					3																	51746747		2203	4300	6503	-	-	-	SO:0001583	missense	0			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.709A>C	3.37:g.51746747A>C	ENSP00000378492:p.Thr237Pro		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	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_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.T237P	ENST00000395052.3	37	c.709	CCDS2834.1	3	.	.	.	.	.	.	.	.	.	.	A	15.05	2.717819	0.48622	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86230	-2.09;-2.09	5.25	4.06	0.47325	Extracellular ligand-binding receptor (1);	0.105673	0.64402	D	0.000004	D	0.91418	0.7292	M	0.69185	2.1	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	D	0.90594	0.4539	10	0.48119	T	0.1	.	12.4129	0.55478	0.8594:0.1405:0.0:0.0	.	237	Q14416	GRM2_HUMAN	P	237	ENSP00000378492:T237P;ENSP00000408906:T237P	ENSP00000296479:T237P	T	+	1	0	GRM2	51721787	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	6.367000	0.73099	0.912000	0.36772	0.528000	0.53228	ACC	GRM2	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3_mtglu_rcpt	ENSG00000164082		0.637	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	60	0.00	0	A			51746747	51746747	+1	no_errors	ENST00000395052	ensembl	human	known	69_37n	missense	41	23.64	13	SNP	1.000	C
GSDMA	284110	genome.wustl.edu	37	17	38133243	38133243	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:38133243A>C	ENST00000301659.4	+	12	1388	c.1270A>C	c.(1270-1272)Acc>Ccc	p.T424P		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	424					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						GGACCCAGACACCCTCCCTCG	0.577																																						dbGAP											0													99.0	104.0	102.0					17																	38133243		1960	4140	6100	-	-	-	SO:0001583	missense	0			AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.1270A>C	17.37:g.38133243A>C	ENSP00000301659:p.Thr424Pro		Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	pfam_Gasdermin	p.T424P	ENST00000301659.4	37	c.1270	CCDS45669.1	17	.	.	.	.	.	.	.	.	.	.	A	20.4	3.990979	0.74703	.	.	ENSG00000167914	ENST00000301659	T	0.29655	1.56	5.85	3.59	0.41128	.	0.376336	0.25948	N	0.027278	T	0.43942	0.1270	M	0.63428	1.95	0.32225	N	0.574731	D	0.76494	0.999	D	0.63488	0.915	T	0.53837	-0.8382	10	0.56958	D	0.05	-16.6202	5.1147	0.14829	0.7569:0.0:0.0846:0.1586	.	424	Q96QA5	GSDMA_HUMAN	P	424	ENSP00000301659:T424P	ENSP00000301659:T424P	T	+	1	0	GSDMA	35386769	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	1.013000	0.29937	0.444000	0.26612	0.459000	0.35465	ACC	GSDMA	-	NULL	ENSG00000167914		0.577	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMA	HGNC	protein_coding	OTTHUMT00000446847.1	224	0.44	1	A	NM_178171		38133243	38133243	+1	no_errors	ENST00000301659	ensembl	human	known	69_37n	missense	160	15.62	30	SNP	1.000	C
GSK3A	2931	genome.wustl.edu	37	19	42736224	42736224	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:42736224T>G	ENST00000222330.3	-	10	1490	c.1363A>C	c.(1363-1365)Acc>Ccc	p.T455P	GSK3A_ENST00000398249.4_Missense_Mutation_p.T373P	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	455					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GAGGACGGGGTGAGGGTGGTA	0.552																																						dbGAP											0													88.0	76.0	80.0					19																	42736224		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1363A>C	19.37:g.42736224T>G	ENSP00000222330:p.Thr455Pro		O14959	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.T455P	ENST00000222330.3	37	c.1363	CCDS12599.1	19	.	.	.	.	.	.	.	.	.	.	T	10.99	1.507168	0.27036	.	.	ENSG00000105723	ENST00000222330;ENST00000398249;ENST00000544315	T;T	0.70045	-0.45;-0.43	4.73	-0.15	0.13416	.	1.086190	0.07051	N	0.831979	T	0.41971	0.1182	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.20009	-1.0288	10	0.30078	T	0.28	-22.1291	0.206	0.00150	0.3206:0.1837:0.1452:0.3506	.	455;373	P49840;A8MT37	GSK3A_HUMAN;.	P	455;373;400	ENSP00000222330:T455P;ENSP00000381301:T373P	ENSP00000222330:T455P	T	-	1	0	GSK3A	47428064	0.993000	0.37304	0.244000	0.24202	0.986000	0.74619	0.574000	0.23714	0.059000	0.16252	-0.441000	0.05720	ACC	GSK3A	-	NULL	ENSG00000105723		0.552	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	239	0.00	0	T			42736224	42736224	-1	no_errors	ENST00000222330	ensembl	human	known	69_37n	missense	154	13.33	24	SNP	0.021	G
GSTM5	2949	genome.wustl.edu	37	1	110256410	110256410	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:110256410A>C	ENST00000256593.3	+	5	418				GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000369813.1_Intron|GSTM5_ENST00000492718.1_3'UTR	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	ACTCCCAGTCACCCATTTCCC	0.537																																						dbGAP											0													235.0	127.0	164.0					1																	110256410		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.360+27A>C	1.37:g.110256410A>C			A8K0V8|Q6PD78	RNA	SNP	-	NULL	ENST00000256593.3	37	NULL	CCDS811.1	1																																																																																			GSTM5	-	-	ENSG00000134201		0.537	GSTM5-001	KNOWN	basic|CCDS	protein_coding	GSTM5	HGNC	protein_coding	OTTHUMT00000032200.1	306	0.65	2	A	NM_000851		110256410	110256410	+1	no_errors	ENST00000492718	ensembl	human	known	69_37n	rna	274	10.46	32	SNP	0.002	C
GTF3C1	2975	genome.wustl.edu	37	16	27474860	27474860	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:27474860A>C	ENST00000356183.4	-	35	5940		c.e35+1		GTF3C1_ENST00000561623.1_Splice_Site|GTF3C1_ENST00000567806.1_5'Flank	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa						5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCCCACACCCACCTTTCCCGT	0.587																																						dbGAP											0													105.0	110.0	108.0					16																	27474860		2197	4300	6497	-	-	-	SO:0001630	splice_region_variant	0			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5924+1T>G	16.37:g.27474860A>C			B2RP21|Q12838|Q6DKN9|Q9Y4W9	Splice_Site	SNP	-	e35+2	ENST00000356183.4	37	c.5924+2	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	A	12.41	1.930230	0.34096	.	.	ENSG00000077235	ENST00000356183	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3776	0.44092	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GTF3C1	27382361	1.000000	0.71417	0.843000	0.33291	0.441000	0.31987	4.442000	0.59988	1.706000	0.51276	0.459000	0.35465	.	GTF3C1	-	-	ENSG00000077235		0.587	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	97	0.00	0	A	NM_001520	Intron	27474860	27474860	-1	no_errors	ENST00000356183	ensembl	human	known	69_37n	splice_site	104	16.13	20	SNP	1.000	C
PLCXD1	55344	genome.wustl.edu	37	X	221832	221832	+	IGR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:221832A>C	ENST00000381657.2	+	0	5507				GTPBP6_ENST00000326153.4_Missense_Mutation_p.V258G	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1						lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GATCACGTCCACCTCCTGAAC	0.542																																						dbGAP											0													135.0	154.0	148.0					X																	221832		2075	4186	6261	-	-	-	SO:0001628	intergenic_variant	0			AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693		X.37:g.221832A>C			A2BH51|A2BH52	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N	p.V258G	ENST00000381657.2	37	c.773	CCDS14103.1	X	.	.	.	.	.	.	.	.	.	.	.	10.26	1.302372	0.23736	.	.	ENSG00000178605	ENST00000326153	.	.	.	2.04	0.74	0.18330	.	0.071950	0.56097	U	0.000038	T	0.62221	0.2410	.	.	.	0.48975	D	0.999733	D	0.76494	0.999	D	0.71656	0.974	T	0.65611	-0.6126	7	0.39692	T	0.17	-26.2934	6.6311	0.22857	0.7581:0.2419:0.0:0.0	.	487	O43824	GTPB6_HUMAN	G	258	.	ENSP00000316598:V258G	V	-	2	0	GTPBP6	161832	1.000000	0.71417	0.255000	0.24374	0.107000	0.19398	6.319000	0.72871	-0.071000	0.12886	0.137000	0.15966	GTG	GTPBP6	-	NULL	ENSG00000178605		0.542	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GTPBP6	HGNC	protein_coding	OTTHUMT00000058879.2	295	0.67	2	A	NM_018390		221832	221832	-1	no_start_codon	ENST00000326153	ensembl	human	known	69_37n	missense	278	11.15	35	SNP	0.998	C
RGL4	266747	genome.wustl.edu	37	22	24034403	24034403	+	Intron	SNP	T	T	G	rs201061325		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:24034403T>G	ENST00000290691.5	+	1	1349				KB-1572G7.2_ENST00000421064.1_RNA|AP000347.2_ENST00000417194.1_RNA|RGL4_ENST00000401461.1_Intron|GUSBP11_ENST00000455485.1_RNA	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4						small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TACGGTAGGGTGGGGCTGTCC	0.642																																						dbGAP											0													87.0	83.0	85.0					22																	24034403		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.179+7T>G	22.37:g.24034403T>G			Q495L8	RNA	SNP	-	NULL	ENST00000290691.5	37	NULL	CCDS13811.1	22																																																																																			GUSBP11	-	-	ENSG00000228315		0.642	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GUSBP11	HGNC	protein_coding	OTTHUMT00000319711.1	117	0.85	1	T	NM_153615		24034403	24034403	-1	no_errors	ENST00000417194	ensembl	human	known	69_37n	rna	108	17.42	23	SNP	0.000	G
GYG2	8908	genome.wustl.edu	37	X	2779637	2779637	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:2779637A>C	ENST00000381163.3	+	9	1287	c.1005A>C	c.(1003-1005)acA>acC	p.T335T	GYG2_ENST00000338623.5_Silent_p.T335T|GYG2_ENST00000542787.1_Silent_p.T335T|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Silent_p.T304T	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	335					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				AAAATTCAACACCCAGTGCGG	0.587																																						dbGAP											0													75.0	60.0	65.0					X																	2779637		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1005A>C	X.37:g.2779637A>C			B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.T154P	ENST00000381163.3	37	c.460	CCDS14121.1	X	.	.	.	.	.	.	.	.	.	.	A	2.422	-0.332909	0.05278	.	.	ENSG00000056998	ENST00000381157	T	0.23950	1.88	1.02	-1.9	0.07665	.	5.225360	0.00961	N	0.003112	T	0.14657	0.0354	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.06285	-1.0835	7	0.27082	T	0.32	.	2.1929	0.03904	0.361:0.3227:0.3163:0.0	.	.	.	.	P	154	ENSP00000370549:T154P	ENSP00000370549:T154P	T	+	1	0	GYG2	2789637	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.473000	0.00988	-0.769000	0.04620	-0.549000	0.04216	ACC	GYG2	-	NULL	ENSG00000056998		0.587	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GYG2	HGNC	protein_coding	OTTHUMT00000055645.1	159	0.62	1	A	NM_003918		2779637	2779637	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000381157	ensembl	human	novel	69_37n	missense	105	15.87	20	SNP	0.000	C
HABP4	22927	genome.wustl.edu	37	9	99227700	99227700	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:99227700T>G	ENST00000375249.4	+	3	669	c.594T>G	c.(592-594)ggT>ggG	p.G198G	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				GAGGCAGAGGTGGCCCTGGGA	0.493																																						dbGAP											0													110.0	122.0	118.0					9																	99227700		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.594T>G	9.37:g.99227700T>G				Silent	SNP	pfam_HABP4_PAIRBP1-bd	p.G198	ENST00000375249.4	37	c.594	CCDS6719.1	9																																																																																			HABP4	-	NULL	ENSG00000130956		0.493	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HABP4	HGNC	protein_coding	OTTHUMT00000053269.1	307	0.32	1	T	NM_014282		99227700	99227700	+1	no_errors	ENST00000375249	ensembl	human	known	69_37n	silent	151	15.56	28	SNP	0.990	G
HACL1	26061	genome.wustl.edu	37	3	15609479	15609479	+	Silent	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:15609479T>C	ENST00000321169.5	-	14	1648	c.1281A>G	c.(1279-1281)ggA>ggG	p.G427G	HACL1_ENST00000457447.2_Silent_p.G367G|HACL1_ENST00000451445.2_Silent_p.G345G|HACL1_ENST00000456194.2_Silent_p.G400G|HACL1_ENST00000435217.2_Silent_p.G186G	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	427	Thiamine pyrophosphate binding.				cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CCAAACCAACTCCCATTGTTC	0.473																																						dbGAP											0													128.0	130.0	130.0					3																	15609479		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.1281A>G	3.37:g.15609479T>C			B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Silent	SNP	pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth	p.G427	ENST00000321169.5	37	c.1281	CCDS2627.1	3																																																																																			HACL1	-	pfam_TPP_enzyme-bd_C	ENSG00000131373		0.473	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HACL1	HGNC	protein_coding	OTTHUMT00000252104.3	171	0.00	0	T	NM_012260		15609479	15609479	-1	no_errors	ENST00000321169	ensembl	human	known	69_37n	silent	181	10.34	21	SNP	1.000	C
HARS	3035	genome.wustl.edu	37	5	140056374	140056374	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:140056374A>C	ENST00000504156.1	-	10	1778	c.1059T>G	c.(1057-1059)ggT>ggG	p.G353G	HARS_ENST00000431330.2_Silent_p.G239G|HARS_ENST00000415192.2_Silent_p.G279G|HARS_ENST00000457527.2_Silent_p.G333G|HARS_ENST00000504366.1_Silent_p.G284G|HARS_ENST00000448240.1_Silent_p.G158G|HARS_ENST00000438307.2_Silent_p.G313G|HARS_ENST00000307633.3_Silent_p.G293G	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	353					gene expression (GO:0010467)|histidyl-tRNA aminoacylation (GO:0006427)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|histidine-tRNA ligase activity (GO:0004821)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CACTGCCCACACCCAGGGGCT	0.617																																						dbGAP											0													96.0	94.0	95.0					5																	140056374		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000498	CCDS4237.1, CCDS58976.1, CCDS58977.1, CCDS58978.1, CCDS75323.1, CCDS75324.1	5q31.3	2012-10-02			ENSG00000170445	ENSG00000170445	6.1.1.21	"""Aminoacyl tRNA synthetases / Class II"""	4816	protein-coding gene	gene with protein product	"""histidine tRNA ligase 1, cytoplasmic"""	142810					Standard	XM_005268428		Approved		uc003lgv.4	P12081	OTTHUMG00000129502	ENST00000504156.1:c.1059T>G	5.37:g.140056374A>C			B4DHQ1|B4DY73|D6REN6|J3KNE5	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_His-tRNA_synth_IIA,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-synth_IIa_subgr	p.G353	ENST00000504156.1	37	c.1059	CCDS4237.1	5																																																																																			HARS	-	pirsf_His-tRNA_synth_IIA,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-synth_IIa_subgr	ENSG00000170445		0.617	HARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HARS	HGNC	protein_coding	OTTHUMT00000251673.2	117	0.84	1	A	NM_002109		140056374	140056374	-1	no_errors	ENST00000504156	ensembl	human	known	69_37n	silent	116	15.83	22	SNP	0.743	C
HCFC1	3054	genome.wustl.edu	37	X	153222819	153222819	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:153222819T>G	ENST00000310441.7	-	13	3265	c.2299A>C	c.(2299-2301)Acc>Ccc	p.T767P	HCFC1_ENST00000354233.3_Missense_Mutation_p.T698P|HCFC1_ENST00000369984.4_Missense_Mutation_p.T767P|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	767	Interaction with ZBTB17.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGATGATGGTGGTCGTGCCG	0.637																																						dbGAP											0													124.0	135.0	131.0					X																	153222819		2137	4200	6337	-	-	-	SO:0001583	missense	0				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2299A>C	X.37:g.153222819T>G	ENSP00000309555:p.Thr767Pro		Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.T767P	ENST00000310441.7	37	c.2299	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	T	27.6	4.846237	0.91277	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03717	3.83;3.84;3.83	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.10723	0.0262	L	0.29908	0.895	0.58432	D	0.999993	D	0.76494	0.999	D	0.83275	0.996	T	0.10683	-1.0619	10	0.54805	T	0.06	.	14.136	0.65289	0.0:0.0:0.0:1.0	.	767	P51610	HCFC1_HUMAN	P	767;767;698	ENSP00000309555:T767P;ENSP00000359001:T767P;ENSP00000346174:T698P	ENSP00000309555:T767P	T	-	1	0	HCFC1	152876013	1.000000	0.71417	0.984000	0.44739	0.860000	0.49131	7.312000	0.78968	1.984000	0.57885	0.486000	0.48141	ACC	HCFC1	-	NULL	ENSG00000172534		0.637	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	121	0.80	1	T	NM_005334		153222819	153222819	-1	no_errors	ENST00000310441	ensembl	human	known	69_37n	missense	104	17.97	23	SNP	1.000	G
HCN2	610	genome.wustl.edu	37	19	610269	610269	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:610269T>G	ENST00000251287.2	+	5	1501	c.1448T>G	c.(1447-1449)gTg>gGg	p.V483G		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	483					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TACAAGCAGGTGGAGCAGTAC	0.617																																					Melanoma(145;1175 2427 8056 36306)	dbGAP											0													131.0	116.0	121.0					19																	610269		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1448T>G	19.37:g.610269T>G	ENSP00000251287:p.Val483Gly		O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.V483G	ENST00000251287.2	37	c.1448	CCDS12035.1	19	.	.	.	.	.	.	.	.	.	.	.	21.4	4.146714	0.77888	.	.	ENSG00000099822	ENST00000251287	D	0.97016	-4.21	3.79	3.79	0.43588	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.96479	0.8851	M	0.91090	3.175	0.80722	D	1	P	0.52316	0.952	B	0.43251	0.413	D	0.96428	0.9317	9	0.87932	D	0	.	11.7167	0.51657	0.0:0.0:0.0:1.0	.	483	Q9UL51	HCN2_HUMAN	G	483	ENSP00000251287:V483G	ENSP00000251287:V483G	V	+	2	0	HCN2	561269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.733000	0.84916	1.498000	0.48600	0.414000	0.27820	GTG	HCN2	-	superfamily_cNMP-bd-like	ENSG00000099822		0.617	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	HGNC	protein_coding	OTTHUMT00000452100.1	81	0.00	0	T	NM_001194		610269	610269	+1	no_errors	ENST00000251287	ensembl	human	known	69_37n	missense	54	17.91	12	SNP	1.000	G
HCN4	10021	genome.wustl.edu	37	15	73617775	73617775	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:73617775A>C	ENST00000261917.3	-	5	2594	c.1601T>G	c.(1600-1602)gTg>gGg	p.V534G		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	534					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTACTGCTCCACCTGCTTGTA	0.657																																						dbGAP											0													93.0	94.0	94.0					15																	73617775		2198	4297	6495	-	-	-	SO:0001583	missense	0			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1601T>G	15.37:g.73617775A>C	ENSP00000261917:p.Val534Gly		Q9UMQ7	Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom	p.V534G	ENST00000261917.3	37	c.1601	CCDS10248.1	15	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316488	0.60524	.	.	ENSG00000138622	ENST00000261917	D	0.97016	-4.21	3.6	3.6	0.41247	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.98153	0.9390	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98805	1.0741	9	0.87932	D	0	.	12.3782	0.55291	1.0:0.0:0.0:0.0	.	534	Q9Y3Q4	HCN4_HUMAN	G	534	ENSP00000261917:V534G	ENSP00000261917:V534G	V	-	2	0	HCN4	71404828	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.222000	0.78025	1.507000	0.48752	0.454000	0.30748	GTG	HCN4	-	superfamily_cNMP-bd-like	ENSG00000138622		0.657	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	118	0.83	1	A	NM_005477		73617775	73617775	-1	no_errors	ENST00000261917	ensembl	human	known	69_37n	missense	68	18.18	16	SNP	1.000	C
HDAC6	10013	genome.wustl.edu	37	X	48672897	48672897	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:48672897A>C	ENST00000334136.5	+	11	1035	c.857A>C	c.(856-858)cAc>cCc	p.H286P	HDAC6_ENST00000413163.2_Missense_Mutation_p.H231P|HDAC6_ENST00000444343.2_Missense_Mutation_p.H300P|HDAC6_ENST00000376619.2_Missense_Mutation_p.H286P			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	286	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TTCTGGCCCCACCTGAAGGCC	0.542																																					Pancreas(112;205 1675 2305 8976 15959)	dbGAP											0													104.0	93.0	97.0					X																	48672897		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.857A>C	X.37:g.48672897A>C	ENSP00000334061:p.His286Pro		O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.H300P	ENST00000334136.5	37	c.899	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	A	12.79	2.042787	0.36085	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163	T;T;T;T	0.63580	0.18;0.18;0.18;-0.05	5.05	3.86	0.44501	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.75777	2.31	0.48632	D	0.999683	D;D;D	0.89917	1.0;0.994;1.0	D;D;D	0.97110	1.0;0.979;1.0	T	0.74583	-0.3617	10	0.62326	D	0.03	-17.6707	8.6934	0.34280	0.8275:0.0:0.0:0.1725	.	276;231;286	B4DZN1;E7EUZ1;Q9UBN7	.;.;HDAC6_HUMAN	P	300;286;286;286;231	ENSP00000398566:H300P;ENSP00000334061:H286P;ENSP00000365804:H286P;ENSP00000398801:H231P	ENSP00000334061:H286P	H	+	2	0	HDAC6	48557841	1.000000	0.71417	0.964000	0.40570	0.024000	0.10985	4.509000	0.60448	0.585000	0.29608	-0.586000	0.04128	CAC	HDAC6	-	pfam_His_deacetylse_dom	ENSG00000094631		0.542	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	152	0.65	1	A	NM_006044		48672897	48672897	+1	no_errors	ENST00000444343	ensembl	human	known	69_37n	missense	204	10.13	23	SNP	1.000	C
HDGF	3068	genome.wustl.edu	37	1	156721133	156721133	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:156721133A>C	ENST00000357325.5	-	1	402		c.e1+1		HDGF_ENST00000537739.1_Splice_Site|HDGF_ENST00000465180.1_Intron|PRCC_ENST00000491853.1_Intron|HDGF_ENST00000368206.5_Intron|HDGF_ENST00000368209.5_Intron|HDGF_ENST00000416666.2_5'Flank	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CGCGCTGCTCACCCGGGCCGG	0.706																																						dbGAP											0													30.0	29.0	30.0					1																	156721133		2202	4299	6501	-	-	-	SO:0001630	splice_region_variant	0			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.87+1T>G	1.37:g.156721133A>C			B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Splice_Site	SNP	-	e1+2	ENST00000357325.5	37	c.87+2	CCDS1156.1	1	.	.	.	.	.	.	.	.	.	.	A	5.520	0.280851	0.10458	.	.	ENSG00000143321	ENST00000357325;ENST00000537739;ENST00000406805	.	.	.	3.09	0.403	0.16350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3036	0.32029	0.6148:0.3852:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HDGF	154987757	1.000000	0.71417	0.924000	0.36721	0.031000	0.12232	7.998000	0.88491	-0.050000	0.13356	-0.636000	0.03981	.	HDGF	-	-	ENSG00000143321		0.706	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	HGNC	protein_coding	OTTHUMT00000098946.1	19	0.00	0	A	NM_004494	Intron	156721133	156721133	-1	no_errors	ENST00000357325	ensembl	human	known	69_37n	splice_site	37	28.85	15	SNP	1.000	C
HDHD1	8226	genome.wustl.edu	37	X	6968402	6968402	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:6968402T>G	ENST00000381077.5	-	4	698	c.622A>C	c.(622-624)Acc>Ccc	p.T208P	HDHD1_ENST00000424830.2_Missense_Mutation_p.T231P|HDHD1_ENST00000412827.2_Missense_Mutation_p.T165P	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	208					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						AGCACCAGGGTGGCCTTTGTT	0.602																																						dbGAP											0													77.0	75.0	76.0					X																	6968402		1931	4112	6043	-	-	-	SO:0001583	missense	0			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.622A>C	X.37:g.6968402T>G	ENSP00000370467:p.Thr208Pro		B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3	p.T231P	ENST00000381077.5	37	c.691	CCDS48075.1	X	.	.	.	.	.	.	.	.	.	.	T	15.59	2.877570	0.51801	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830	T;T;T	0.31510	1.49;1.49;1.49	4.45	3.29	0.37713	HAD-like domain (2);	0.050294	0.85682	D	0.000000	T	0.54822	0.1882	M	0.90483	3.12	0.80722	D	1	D;D;D	0.62365	0.974;0.991;0.973	D;D;D	0.68353	0.921;0.957;0.946	T	0.53528	-0.8426	10	0.29301	T	0.29	-22.4621	7.4207	0.27071	0.0:0.1079:0.0:0.8921	.	165;231;208	Q08623-2;E9PAV8;Q08623	.;.;HDHD1_HUMAN	P	208;224;165;231	ENSP00000370467:T208P;ENSP00000406260:T165P;ENSP00000396452:T231P	ENSP00000370467:T208P	T	-	1	0	HDHD1	6978402	1.000000	0.71417	0.658000	0.29665	0.373000	0.29922	4.847000	0.62867	0.449000	0.26747	0.486000	0.48141	ACC	HDHD1	-	superfamily_HAD-like_dom	ENSG00000130021		0.602	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD1	HGNC	protein_coding	OTTHUMT00000055683.2	201	0.49	1	T	NM_012080		6968402	6968402	-1	no_errors	ENST00000424830	ensembl	human	known	69_37n	missense	127	16.45	25	SNP	1.000	G
HDLBP	3069	genome.wustl.edu	37	2	242181873	242181873	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:242181873A>C	ENST00000391975.1	-	17	2397		c.e17+1		HDLBP_ENST00000391976.2_Splice_Site|HDLBP_ENST00000310931.4_Splice_Site|AC104841.1_ENST00000578965.1_RNA|HDLBP_ENST00000427183.2_Splice_Site	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein						cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCCATGCTCACCTTCTCCTC	0.582																																						dbGAP											0													51.0	43.0	45.0					2																	242181873		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2169+1T>G	2.37:g.242181873A>C			B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Splice_Site	SNP	-	e15+2	ENST00000391975.1	37	c.2169+2	CCDS2547.1	2	.	.	.	.	.	.	.	.	.	.	A	12.93	2.085859	0.36758	.	.	ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000373292;ENST00000427487;ENST00000452931	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7089	0.69211	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HDLBP	241830546	1.000000	0.71417	1.000000	0.80357	0.197000	0.23852	9.262000	0.95591	1.894000	0.54839	0.477000	0.44152	.	HDLBP	-	-	ENSG00000115677		0.582	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	73	0.00	0	A	NM_203346	Intron	242181873	242181873	-1	no_errors	ENST00000310931	ensembl	human	known	69_37n	splice_site	55	12.31	8	SNP	1.000	C
MROH1	727957	genome.wustl.edu	37	8	145255408	145255408	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:145255408A>C	ENST00000528919.1	+	11	1226	c.1105A>C	c.(1105-1107)Acc>Ccc	p.T369P	MROH1_ENST00000326134.5_Missense_Mutation_p.T369P|MROH1_ENST00000527071.1_3'UTR|MROH1_ENST00000398656.4_Missense_Mutation_p.T369P|MROH1_ENST00000423230.2_Missense_Mutation_p.T369P|MROH1_ENST00000534366.1_Missense_Mutation_p.T369P	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1	369																	CCGCGTGGGCACCCTGCAGGT	0.637																																						dbGAP											0													38.0	46.0	43.0					8																	145255408		1971	4067	6038	-	-	-	SO:0001583	missense	0				CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.1105A>C	8.37:g.145255408A>C	ENSP00000435565:p.Thr369Pro		C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.T369P	ENST00000528919.1	37	c.1105	CCDS47938.1	8	.	.	.	.	.	.	.	.	.	.	A	18.75	3.691601	0.68271	.	.	ENSG00000179832	ENST00000423230;ENST00000398656;ENST00000534366;ENST00000528919;ENST00000326134;ENST00000356585	T;T;T;T;T	0.68025	-0.21;-0.3;-0.3;-0.3;-0.3	5.49	2.93	0.34026	Armadillo-like helical (1);Armadillo-type fold (1);	0.170233	0.39759	U	0.001274	T	0.76385	0.3980	M	0.76328	2.33	0.80722	D	1	D;P;D;P	0.63880	0.993;0.93;0.981;0.951	D;P;P;P	0.66351	0.943;0.462;0.69;0.864	T	0.76041	-0.3104	10	0.66056	D	0.02	.	7.4911	0.27462	0.6005:0.0:0.0:0.3995	.	369;369;369;369	Q8NDA8-2;E9PHY8;Q8NDA8;Q8NDA8-4	.;.;HTR7A_HUMAN;.	P	369;369;369;369;369;301	ENSP00000388174:T369P;ENSP00000381649:T369P;ENSP00000436636:T369P;ENSP00000435565:T369P;ENSP00000321737:T369P	ENSP00000321737:T369P	T	+	1	0	HEATR7A	145327396	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	2.838000	0.48199	0.887000	0.36136	0.460000	0.39030	ACC	HEATR7A	-	superfamily_ARM-type_fold	ENSG00000179832		0.637	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HEATR7A	HGNC	protein_coding	OTTHUMT00000386183.1	110	0.88	1	A	NM_032450		145255408	145255408	+1	no_errors	ENST00000326134	ensembl	human	known	69_37n	missense	67	18.29	15	SNP	1.000	C
HECTD3	79654	genome.wustl.edu	37	1	45475954	45475954	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:45475954A>C	ENST00000372172.4	-	3	613	c.542T>G	c.(541-543)gTg>gGg	p.V181G	UROD_ENST00000246337.4_5'Flank|HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	181					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					CAGGTCCACCACCTGTTCCCA	0.577																																						dbGAP											0													96.0	96.0	96.0					1																	45475954		2106	4239	6345	-	-	-	SO:0001583	missense	0			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.542T>G	1.37:g.45475954A>C	ENSP00000361245:p.Val181Gly		B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.V181G	ENST00000372172.4	37	c.542	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.870317	0.72065	.	.	ENSG00000126107	ENST00000372172	T	0.64991	-0.13	4.13	4.13	0.48395	Galactose-binding domain-like (1);	0.314863	0.29587	N	0.011724	T	0.68384	0.2995	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.72087	-0.4396	10	0.87932	D	0	.	12.7616	0.57367	1.0:0.0:0.0:0.0	.	181	Q5T447	HECD3_HUMAN	G	181	ENSP00000361245:V181G	ENSP00000361245:V181G	V	-	2	0	HECTD3	45248541	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	7.677000	0.84024	1.872000	0.54250	0.533000	0.62120	GTG	HECTD3	-	superfamily_Galactose-bd-like	ENSG00000126107		0.577	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	118	0.83	1	A	NM_024602		45475954	45475954	-1	no_errors	ENST00000372172	ensembl	human	known	69_37n	missense	86	23.01	26	SNP	1.000	C
HECTD3	79654	genome.wustl.edu	37	1	45475964	45475964	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:45475964A>C	ENST00000372172.4	-	3	603	c.532T>G	c.(532-534)Tgg>Ggg	p.W178G	UROD_ENST00000246337.4_5'Flank|HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	178					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					ACCTGTTCCCACCTGTGGGCA	0.572																																						dbGAP											0													83.0	84.0	84.0					1																	45475964		2105	4238	6343	-	-	-	SO:0001630	splice_region_variant	0			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.531-1T>G	1.37:g.45475964A>C			B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.W178G	ENST00000372172.4	37	c.532	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	A	17.43	3.387964	0.61956	.	.	ENSG00000126107	ENST00000372172	T	0.63096	-0.02	4.13	4.13	0.48395	Galactose-binding domain-like (1);	0.565137	0.20580	N	0.089544	T	0.69242	0.3089	L	0.36672	1.1	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.72377	-0.4312	10	0.87932	D	0	.	12.7616	0.57367	1.0:0.0:0.0:0.0	.	178	Q5T447	HECD3_HUMAN	G	178	ENSP00000361245:W178G	ENSP00000361245:W178G	W	-	1	0	HECTD3	45248551	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	7.578000	0.82498	1.872000	0.54250	0.533000	0.62120	TGG	HECTD3	-	superfamily_Galactose-bd-like	ENSG00000126107		0.572	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	121	0.79	1	A	NM_024602	Missense_Mutation	45475964	45475964	-1	no_errors	ENST00000372172	ensembl	human	known	69_37n	missense	99	16.81	20	SNP	1.000	C
HECTD4	283450	genome.wustl.edu	37	12	112622305	112622305	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:112622305T>G	ENST00000430131.2	-	60	10344	c.9199A>C	c.(9199-9201)Acc>Ccc	p.T3067P	HECTD4_ENST00000550722.1_Missense_Mutation_p.T3343P|HECTD4_ENST00000377560.5_Missense_Mutation_p.T3317P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3067					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GCCTGGCTGGTGGAGGCGGAG	0.672																																						dbGAP											0													24.0	33.0	30.0					12																	112622305		2187	4286	6473	-	-	-	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9199A>C	12.37:g.112622305T>G	ENSP00000404379:p.Thr3067Pro		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.T3317P	ENST00000430131.2	37	c.9949		12	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745043	0.49151	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.52295	0.67;0.68;0.67	5.82	5.82	0.92795	.	.	.	.	.	T	0.33235	0.0856	N	0.19112	0.55	0.44643	D	0.997622	P	0.41041	0.736	B	0.33042	0.157	T	0.32824	-0.9892	9	0.87932	D	0	.	16.1864	0.81955	0.0:0.0:0.0:1.0	.	3067	Q9Y4D8	K0614_HUMAN	P	3317;3067;3343	ENSP00000366783:T3317P;ENSP00000404379:T3067P;ENSP00000449784:T3343P	ENSP00000366783:T3317P	T	-	1	0	C12orf51	111106688	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.070000	0.76763	2.225000	0.72522	0.533000	0.62120	ACC	HECTD4	-	NULL	ENSG00000173064		0.672	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		124	0.80	1	T	NM_173813		112622305	112622305	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	missense	51	28.17	20	SNP	1.000	G
HECTD4	283450	genome.wustl.edu	37	12	112622601	112622601	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:112622601A>C	ENST00000430131.2	-	60	10048	c.8903T>G	c.(8902-8904)gTg>gGg	p.V2968G	HECTD4_ENST00000550722.1_Missense_Mutation_p.V3244G|HECTD4_ENST00000377560.5_Missense_Mutation_p.V3218G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2968					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGTGGGGCCCACCAGGGCCTG	0.692																																						dbGAP											0													92.0	116.0	108.0					12																	112622601		2146	4242	6388	-	-	-	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8903T>G	12.37:g.112622601A>C	ENSP00000404379:p.Val2968Gly		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.V3218G	ENST00000430131.2	37	c.9653		12	.	.	.	.	.	.	.	.	.	.	A	18.64	3.667496	0.67814	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.49720	0.77;0.77;0.77	5.61	5.61	0.85477	.	.	.	.	.	T	0.36880	0.0983	L	0.27053	0.805	0.80722	D	1	P	0.35155	0.487	B	0.31290	0.127	T	0.35919	-0.9769	9	0.87932	D	0	.	15.8121	0.78573	1.0:0.0:0.0:0.0	.	2968	Q9Y4D8	K0614_HUMAN	G	3218;2968;3244	ENSP00000366783:V3218G;ENSP00000404379:V2968G;ENSP00000449784:V3244G	ENSP00000366783:V3218G	V	-	2	0	C12orf51	111106984	1.000000	0.71417	0.992000	0.48379	0.390000	0.30446	8.449000	0.90337	2.139000	0.66308	0.533000	0.62120	GTG	HECTD4	-	NULL	ENSG00000173064		0.692	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		215	0.46	1	A	NM_173813		112622601	112622601	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	missense	99	18.70	23	SNP	1.000	C
HECTD4	283450	genome.wustl.edu	37	12	112666532	112666532	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:112666532T>G	ENST00000430131.2	-	41	6482	c.5337A>C	c.(5335-5337)ccA>ccC	p.P1779P	HECTD4_ENST00000550722.1_Silent_p.P2055P|HECTD4_ENST00000377560.5_Silent_p.P2029P			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1779					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										AGTCTATGGGTGGGAATCTGA	0.413																																						dbGAP											0													206.0	201.0	203.0					12																	112666532		1945	4134	6079	-	-	-	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5337A>C	12.37:g.112666532T>G			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT	p.P2029	ENST00000430131.2	37	c.6087		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.413	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		197	0.51	1	T	NM_173813		112666532	112666532	-1	no_errors	ENST00000377560	ensembl	human	known	69_37n	silent	225	14.39	38	SNP	1.000	G
HERC2	8924	genome.wustl.edu	37	15	28519482	28519482	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:28519482T>C	ENST00000261609.7	-	7	863	c.755A>G	c.(754-756)gAg>gGg	p.E252G		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCCACCACCTCCAGCCACAC	0.617																																						dbGAP											0													74.0	61.0	65.0					15																	28519482		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.755A>G	15.37:g.28519482T>C	ENSP00000261609:p.Glu252Gly			Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens	p.E252G	ENST00000261609.7	37	c.755	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	T	32	5.142432	0.94560	.	.	ENSG00000128731	ENST00000261609	T	0.55052	0.54	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	M	0.73217	2.22	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.74725	-0.3568	10	0.87932	D	0	.	15.509	0.75766	0.0:0.0:0.0:1.0	.	252	O95714	HERC2_HUMAN	G	252	ENSP00000261609:E252G	ENSP00000261609:E252G	E	-	2	0	HERC2	26193077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.981000	0.88123	2.119000	0.64992	0.529000	0.55759	GAG	HERC2	-	NULL	ENSG00000128731		0.617	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	HGNC	protein_coding	OTTHUMT00000251358.2	101	0.00	0	T	NM_004667		28519482	28519482	-1	no_errors	ENST00000261609	ensembl	human	known	69_37n	missense	48	18.64	11	SNP	1.000	C
HGD	3081	genome.wustl.edu	37	3	120347313	120347313	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:120347313A>C	ENST00000283871.5	-	14	1711	c.1252T>G	c.(1252-1254)Tgt>Ggt	p.C418G		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	418					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TCATCCAAACACCTGGAGGCC	0.493																																						dbGAP											0													146.0	141.0	143.0					3																	120347313		2203	4296	6499	-	-	-	SO:0001583	missense	0				CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.1252T>G	3.37:g.120347313A>C	ENSP00000283871:p.Cys418Gly		A8K417|B2R8Z0	Missense_Mutation	SNP	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	p.C418G	ENST00000283871.5	37	c.1252	CCDS3000.1	3	.	.	.	.	.	.	.	.	.	.	A	4.307	0.056206	0.08291	.	.	ENSG00000113924	ENST00000283871	D	0.98926	-5.24	4.91	4.91	0.64330	Cupin, RmlC-type (1);	0.185844	0.42821	D	0.000658	D	0.93969	0.8069	N	0.12182	0.205	0.33205	D	0.552707	B	0.16166	0.016	B	0.12156	0.007	D	0.91737	0.5401	10	0.31617	T	0.26	-5.8629	5.5554	0.17113	0.8114:0.0:0.1886:0.0	.	418	Q93099	HGD_HUMAN	G	418	ENSP00000283871:C418G	ENSP00000283871:C418G	C	-	1	0	HGD	121830003	0.977000	0.34250	0.910000	0.35882	0.187000	0.23431	2.050000	0.41297	2.061000	0.61500	0.460000	0.39030	TGT	HGD	-	pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase	ENSG00000113924		0.493	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGD	HGNC	protein_coding	OTTHUMT00000355410.1	182	0.00	0	A			120347313	120347313	-1	no_errors	ENST00000283871	ensembl	human	known	69_37n	missense	183	11.59	24	SNP	0.939	C
HIP1	3092	genome.wustl.edu	37	7	75183428	75183428	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:75183428T>G	ENST00000336926.6	-	21	2168	c.2142A>C	c.(2140-2142)ccA>ccC	p.P714P	HIP1_ENST00000434438.2_Silent_p.P714P	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	714					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGGCTCAGGTGGGGCTCTGA	0.617			T	PDGFRB	CMML																																	dbGAP		Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													46.0	43.0	44.0					7																	75183428		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2142A>C	7.37:g.75183428T>G			B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Silent	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.P714	ENST00000336926.6	37	c.2142	CCDS34669.1	7																																																																																			HIP1	-	NULL	ENSG00000127946		0.617	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	128	0.76	1	T	NM_005338		75183428	75183428	-1	no_errors	ENST00000336926	ensembl	human	known	69_37n	silent	81	18.18	18	SNP	0.000	G
HIRIP3	8479	genome.wustl.edu	37	16	30006107	30006107	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:30006107A>C	ENST00000279392.3	-	4	1189	c.359T>G	c.(358-360)gTg>gGg	p.V120G	INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567254.1_5'Flank|HIRIP3_ENST00000564026.1_Intron|INO80E_ENST00000567705.1_5'Flank|HIRIP3_ENST00000566471.1_5'UTR|INO80E_ENST00000563197.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	120					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TTCTGCTGCCACCCCATTCTT	0.587																																						dbGAP											0													57.0	61.0	60.0					16																	30006107		2197	4300	6497	-	-	-	SO:0001583	missense	0			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.359T>G	16.37:g.30006107A>C	ENSP00000279392:p.Val120Gly		H3BSR3|O75707|O75708	Missense_Mutation	SNP	pfam_Histone_chaperone_domain_CHZ	p.V120G	ENST00000279392.3	37	c.359	CCDS10664.1	16	.	.	.	.	.	.	.	.	.	.	A	9.880	1.201419	0.22121	.	.	ENSG00000149929	ENST00000279392	T	0.37235	1.21	3.86	2.75	0.32379	.	0.703054	0.12843	N	0.434617	T	0.14917	0.0360	N	0.08118	0	0.09310	N	0.999993	B	0.33073	0.396	B	0.23419	0.046	T	0.13737	-1.0498	10	0.27082	T	0.32	-10.5713	5.913	0.19039	0.8778:0.0:0.1222:0.0	.	120	Q9BW71	HIRP3_HUMAN	G	120	ENSP00000279392:V120G	ENSP00000279392:V120G	V	-	2	0	HIRIP3	29913608	0.000000	0.05858	0.055000	0.19348	0.654000	0.38779	0.354000	0.20146	0.650000	0.30769	0.482000	0.46254	GTG	HIRIP3	-	NULL	ENSG00000149929		0.587	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRIP3	HGNC	protein_coding	OTTHUMT00000255160.2	90	0.00	0	A	NM_003609		30006107	30006107	-1	no_errors	ENST00000279392	ensembl	human	known	69_37n	missense	137	20.23	35	SNP	0.020	C
HIST1H2BB	3018	genome.wustl.edu	37	6	26043737	26043737	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:26043737T>G	ENST00000357905.2	-	1	148	c.149A>C	c.(148-150)cAc>cCc	p.H50P	HIST1H3C_ENST00000540144.1_5'Flank	NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	50					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGTGTCGGGGTGGACCTGCTT	0.547																																						dbGAP											0													205.0	196.0	199.0					6																	26043737		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF531285	CCDS4575.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196226			"""Histones / Replication-dependent"""	4751	protein-coding gene	gene with protein product		602803	"""H2B histone family, member F"", ""histone 1, H2bb"""	H2BFF		8227173, 12408966	Standard	NM_021062		Approved	H2B/f	uc003nfu.3	P33778	OTTHUMG00000014421	ENST00000357905.2:c.149A>C	6.37:g.26043737T>G	ENSP00000350580:p.His50Pro		Q4KN36	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.H50P	ENST00000357905.2	37	c.149	CCDS4575.1	6	.	.	.	.	.	.	.	.	.	.	t	10.36	1.329857	0.24167	.	.	ENSG00000196226	ENST00000357905	T	0.22539	1.95	5.34	4.15	0.48705	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000009	T	0.46814	0.1412	H	0.94886	3.595	0.40463	D	0.980261	D	0.89917	1.0	D	0.97110	1.0	T	0.62393	-0.6864	10	0.87932	D	0	.	11.937	0.52878	0.0:0.0:0.1456:0.8544	.	50	P33778	H2B1B_HUMAN	P	50	ENSP00000350580:H50P	ENSP00000350580:H50P	H	-	2	0	HIST1H2BB	26151716	1.000000	0.71417	0.121000	0.21740	0.001000	0.01503	6.247000	0.72411	0.930000	0.37217	-0.316000	0.08728	CAC	HIST1H2BB	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000196226		0.547	HIST1H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BB	HGNC	protein_coding	OTTHUMT00000040083.1	260	0.38	1	T	NM_021062		26043737	26043737	-1	no_errors	ENST00000357905	ensembl	human	known	69_37n	missense	228	12.60	33	SNP	1.000	G
HIST1H2BL	8340	genome.wustl.edu	37	6	27775551	27775551	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:27775551A>C	ENST00000377401.2	-	1	158	c.134T>G	c.(133-135)gTg>gGg	p.V45G	HIST1H3H_ENST00000369163.2_5'Flank|HIST1H2AI_ENST00000358739.3_5'Flank	NM_003519.3	NP_003510.1	Q99880	H2B1L_HUMAN	histone cluster 1, H2bl	45					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CTGCTTCAGCACCTTGTACAC	0.572																																						dbGAP											0													217.0	203.0	207.0					6																	27775551		2203	4298	6501	-	-	-	SO:0001583	missense	0			Z83740	CCDS4625.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000185130	ENSG00000185130		"""Histones / Replication-dependent"""	4748	protein-coding gene	gene with protein product		602800	"""H2B histone family, member C"", ""histone 1, H2bl"""	H2BFC		9439656, 12408966	Standard	NM_003519		Approved	H2B/c, dJ97D16.4	uc003njl.3	Q99880	OTTHUMG00000014485	ENST00000377401.2:c.134T>G	6.37:g.27775551A>C	ENSP00000366618:p.Val45Gly		B2R5A3|Q52LW9	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.V45G	ENST00000377401.2	37	c.134	CCDS4625.1	6	.	.	.	.	.	.	.	.	.	.	.	22.3	4.268344	0.80469	.	.	ENSG00000185130	ENST00000377401	T	0.73897	-0.79	4.35	4.35	0.52113	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.88808	0.6537	H	0.96015	3.755	0.80722	D	1	P	0.41131	0.739	D	0.67548	0.952	D	0.91329	0.5088	9	0.87932	D	0	.	13.4391	0.61101	1.0:0.0:0.0:0.0	.	45	Q99880	H2B1L_HUMAN	G	45	ENSP00000366618:V45G	ENSP00000366618:V45G	V	-	2	0	HIST1H2BL	27883530	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.711000	0.74675	1.894000	0.54839	0.533000	0.62120	GTG	HIST1H2BL	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000185130		0.572	HIST1H2BL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BL	HGNC	protein_coding	OTTHUMT00000040153.1	280	0.35	1	A	NM_003519		27775551	27775551	-1	no_errors	ENST00000377401	ensembl	human	known	69_37n	missense	219	11.65	29	SNP	1.000	C
HK2	3099	genome.wustl.edu	37	2	75107666	75107666	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:75107666A>C	ENST00000290573.2	+	10	2140	c.1540A>C	c.(1540-1542)Acc>Ccc	p.T514P	HK2_ENST00000409174.1_Missense_Mutation_p.T486P	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	514	Catalytic.|Hexokinase type-1 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GATGCTGCCCACCTACGTGTG	0.597																																						dbGAP											0													66.0	66.0	66.0					2																	75107666		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1540A>C	2.37:g.75107666A>C	ENSP00000290573:p.Thr514Pro		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.T514P	ENST00000290573.2	37	c.1540	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	A	22.3	4.268068	0.80469	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.98633	-5.04;-5.04	4.99	4.99	0.66335	Hexokinase, N-terminal (1);	0.086699	0.85682	D	0.000000	D	0.99354	0.9773	H	0.97707	4.06	0.80722	D	1	D	0.61697	0.99	P	0.62649	0.905	D	0.98602	1.0659	10	0.87932	D	0	-28.97	12.9441	0.58364	1.0:0.0:0.0:0.0	.	514	P52789	HXK2_HUMAN	P	514;514;486	ENSP00000290573:T514P;ENSP00000387140:T486P	ENSP00000290573:T514P	T	+	1	0	HK2	74961174	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.756000	0.68757	2.224000	0.72417	0.533000	0.62120	ACC	HK2	-	pfam_Hexokinase_N	ENSG00000159399		0.597	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	HGNC	protein_coding	OTTHUMT00000252238.2	126	0.00	0	A	NM_000189		75107666	75107666	+1	no_errors	ENST00000290573	ensembl	human	known	69_37n	missense	73	20.43	19	SNP	1.000	C
HMGXB4	10042	genome.wustl.edu	37	22	35661298	35661298	+	Missense_Mutation	SNP	A	A	G	rs77847678		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:35661298A>G	ENST00000216106.5	+	5	1045	c.917A>G	c.(916-918)gAg>gGg	p.E306G	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E197G	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	306					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGGCTGGGGAGTTAGTGATA	0.438																																						dbGAP											0													68.0	72.0	71.0					22																	35661298		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.917A>G	22.37:g.35661298A>G	ENSP00000216106:p.Glu306Gly		O75672|O75673|Q9UMT5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E306G	ENST00000216106.5	37	c.917	CCDS33641.1	22	.	.	.	.	.	.	.	.	.	.	A	18.46	3.628632	0.67015	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.66460	-0.2;1.87;-0.21;1.89	6.01	4.98	0.66077	.	0.042705	0.85682	D	0.000000	T	0.70780	0.3263	L	0.34521	1.04	0.49299	D	0.999778	D	0.76494	0.999	D	0.64144	0.922	T	0.73173	-0.4066	10	0.87932	D	0	-31.0384	11.8424	0.52361	0.9322:0.0:0.0678:0.0	.	306	Q9UGU5	HMGX4_HUMAN	G	197;197;197;306	ENSP00000401658:E197G;ENSP00000398302:E197G;ENSP00000415500:E197G;ENSP00000216106:E306G	ENSP00000216106:E306G	E	+	2	0	HMGXB4	33991298	1.000000	0.71417	0.986000	0.45419	0.999000	0.98932	8.062000	0.89475	1.108000	0.41662	0.528000	0.53228	GAG	HMGXB4	-	NULL	ENSG00000100281		0.438	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	174	0.57	1	A	NM_005487		35661298	35661298	+1	no_errors	ENST00000216106	ensembl	human	known	69_37n	missense	92	14.81	16	SNP	1.000	G
HNRNPA2B1	3181	genome.wustl.edu	37	7	26232150	26232150	+	Missense_Mutation	SNP	T	T	C	rs117917826		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:26232150T>C	ENST00000354667.4	-	11	1216	c.1048A>G	c.(1048-1050)Agg>Ggg	p.R350G	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.R338G|HNRNPA2B1_ENST00000476233.1_5'Flank	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	350	Gly-rich.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|RNA binding (GO:0003723)|single-stranded telomeric DNA binding (GO:0043047)		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TATCGGCTCCTCCCACCATAA	0.418			T	ETV1	prostate																																	dbGAP		Dom	yes		7	7p15	3181	heterogeneous nuclear ribonucleoprotein A2/B1		E	0													160.0	170.0	167.0					7																	26232150		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28877	CCDS5397.1, CCDS43557.1	7p15	2013-02-12		2007-08-16	ENSG00000122566	ENSG00000122566		"""RNA binding motif (RRM) containing"""	5033	protein-coding gene	gene with protein product		600124		HNRPA2B1		8029005	Standard	NM_002137		Approved		uc003sxr.4	P22626	OTTHUMG00000023471	ENST00000354667.4:c.1048A>G	7.37:g.26232150T>C	ENSP00000346694:p.Arg350Gly		A8K064|P22627|Q9UC98|Q9UDJ2	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNPA1,smart_RRM_dom,pfscan_RRM_dom	p.R350G	ENST00000354667.4	37	c.1048	CCDS43557.1	7	.	.	.	.	.	.	.	.	.	.	T	10.70	1.423968	0.25639	.	.	ENSG00000122566	ENST00000354667;ENST00000356674	T;D	0.83673	-0.33;-1.75	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000001	D	0.87301	0.6143	L	0.49126	1.545	0.43195	D	0.995039	D;P	0.54772	0.968;0.947	P;P	0.61874	0.895;0.788	D	0.84384	0.0551	10	0.22706	T	0.39	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	338;350	P22626-2;P22626	.;ROA2_HUMAN	G	350;338	ENSP00000346694:R350G;ENSP00000349101:R338G	ENSP00000346694:R350G	R	-	1	2	HNRNPA2B1	26198675	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.467000	0.53078	2.367000	0.80283	0.528000	0.53228	AGG	HNRNPA2B1	-	NULL	ENSG00000122566		0.418	HNRNPA2B1-001	KNOWN	basic|CCDS	protein_coding	HNRNPA2B1	HGNC	protein_coding	OTTHUMT00000214109.1	225	0.00	0	T	NM_002137		26232150	26232150	-1	no_errors	ENST00000354667	ensembl	human	known	69_37n	missense	240	15.19	43	SNP	1.000	C
HNRNPH2	3188	genome.wustl.edu	37	X	100668170	100668170	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:100668170A>G	ENST00000316594.5	+	2	1272	c.1194A>G	c.(1192-1194)ggA>ggG	p.G398G		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	398	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G398G(1)		breast(3)|large_intestine(2)|lung(6)|skin(1)	12						AAATGATGGGAGGGATGGGCT	0.502																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											195.0	184.0	188.0					X																	100668170		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1194A>G	X.37:g.100668170A>G			A1L400|Q9HHA7	Silent	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.G398	ENST00000316594.5	37	c.1194	CCDS14485.1	X																																																																																			HNRNPH2	-	NULL	ENSG00000126945		0.502	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH2	HGNC	protein_coding	OTTHUMT00000057556.1	177	0.56	1	A	NM_019597		100668170	100668170	+1	no_errors	ENST00000316594	ensembl	human	known	69_37n	silent	177	11.50	23	SNP	0.999	G
HNRNPH3	3189	genome.wustl.edu	37	10	70101400	70101400	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:70101400A>G	ENST00000265866.7	+	8	999	c.834A>G	c.(832-834)ggA>ggG	p.G278G	HNRNPH3_ENST00000469172.1_3'UTR|HNRNPH3_ENST00000354695.5_Silent_p.G263G|HNRNPH3_ENST00000441000.2_Silent_p.G170G	NM_012207.2|NM_021644.3	NP_036339.1|NP_067676.2	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3 (2H9)	278	Gly-rich.				epithelial cell differentiation (GO:0030855)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						CTGGCATGGGAGGTTCTGGAA	0.398																																						dbGAP											0													87.0	92.0	90.0					10																	70101400		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7278.1, CCDS7279.1	10q22	2013-02-12		2008-04-18	ENSG00000096746	ENSG00000096746		"""RNA binding motif (RRM) containing"""	5043	protein-coding gene	gene with protein product		602324		HNRPH3		8999868	Standard	NM_021644		Approved	2H9	uc001jnw.4	P31942	OTTHUMG00000018349	ENST00000265866.7:c.834A>G	10.37:g.70101400A>G			A8K682|B3KRE1|Q9BSX1|Q9NP53|Q9NP96|Q9NPA7|Q9NPI4|Q9UFU4|Q9Y4J5	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G278	ENST00000265866.7	37	c.834	CCDS7278.1	10																																																																																			HNRNPH3	-	NULL	ENSG00000096746		0.398	HNRNPH3-012	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPH3	HGNC	protein_coding	OTTHUMT00000090165.1	313	0.63	2	A			70101400	70101400	+1	no_errors	ENST00000265866	ensembl	human	known	69_37n	silent	318	10.36	37	SNP	1.000	G
HNRNPM	4670	genome.wustl.edu	37	19	8553625	8553625	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:8553625T>G	ENST00000325495.4	+	16	2121	c.2080T>G	c.(2080-2082)Tgt>Ggt	p.C694G	HNRNPM_ENST00000348943.3_Missense_Mutation_p.C655G|HNRNPM_ENST00000602219.1_3'UTR	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	694	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GTCCAAGGGGTGTGGCGTGGT	0.547																																						dbGAP											0													134.0	116.0	122.0					19																	8553625		2203	4300	6503	-	-	-	SO:0001583	missense	0			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.2080T>G	19.37:g.8553625T>G	ENSP00000325376:p.Cys694Gly		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom	p.C694G	ENST00000325495.4	37	c.2080	CCDS12203.1	19	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351790	0.82132	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.74526	-0.85;-0.85	5.56	5.56	0.83823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.119873	0.85682	D	0.000000	D	0.87277	0.6137	M	0.90542	3.125	0.80722	D	1	D;P;D	0.61080	0.958;0.956;0.989	P;P;P	0.61940	0.676;0.707;0.896	D	0.89969	0.4092	10	0.87932	D	0	.	14.5309	0.67926	0.0:0.0:0.0:1.0	.	694;655;579	P52272;P52272-2;Q59ES8	HNRPM_HUMAN;.;.	G	694;655;579;251	ENSP00000325376:C694G;ENSP00000325732:C655G	ENSP00000325376:C694G	C	+	1	0	HNRNPM	8459625	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	8.006000	0.88564	2.105000	0.64084	0.459000	0.35465	TGT	HNRNPM	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000099783		0.547	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	259	0.38	1	T			8553625	8553625	+1	no_errors	ENST00000325495	ensembl	human	known	69_37n	missense	133	16.88	27	SNP	1.000	G
HNRNPUL1	11100	genome.wustl.edu	37	19	41810134	41810134	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:41810134A>C	ENST00000392006.3	+	13	2403	c.2230A>C	c.(2230-2232)Acc>Ccc	p.T744P	HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.T630P|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.T644P|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.T644P|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.T644P|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.T655P|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.T744P	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	744	Necessary for interaction with TP53.|Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CAATACCAGCACCCCCACCGT	0.572																																						dbGAP											0													64.0	71.0	69.0					19																	41810134		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.2230A>C	19.37:g.41810134A>C	ENSP00000375863:p.Thr744Pro		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.T744P	ENST00000392006.3	37	c.2230	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858909	0.51376	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;D;T;D	0.89617	0.89;-2.54;1.48;-2.54	5.23	5.23	0.72850	.	0.154291	0.42682	D	0.000678	D	0.87692	0.6241	N	0.14661	0.345	0.31315	N	0.686695	P;P;D;D;D;P;P	0.76494	0.842;0.842;0.965;0.999;0.965;0.94;0.902	B;B;P;D;P;B;P	0.80764	0.068;0.272;0.461;0.994;0.461;0.272;0.461	D	0.84739	0.0750	10	0.25106	T	0.35	-19.404	11.4991	0.50426	1.0:0.0:0.0:0.0	.	655;644;744;268;630;744;644	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-5;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;.;HNRL1_HUMAN;.	P	644;744;630;655	ENSP00000340857:T644P;ENSP00000375863:T744P;ENSP00000367460:T630P;ENSP00000263367:T655P	ENSP00000263367:T655P	T	+	1	0	HNRNPUL1	46501974	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.821000	0.55700	2.223000	0.72356	0.454000	0.30748	ACC	HNRNPUL1	-	NULL	ENSG00000105323		0.572	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	115	0.85	1	A	NM_144732, NM_007040		41810134	41810134	+1	no_errors	ENST00000392006	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	1.000	C
HOXC8	3224	genome.wustl.edu	37	12	54405101	54405101	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:54405101T>G	ENST00000040584.4	+	2	902	c.665T>G	c.(664-666)gTg>gGg	p.V222G	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	222					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						gaggagaaggtggaggaagaa	0.483																																					GBM(197;701 2226 7002 18822 41696)	dbGAP											0													68.0	83.0	78.0					12																	54405101		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.665T>G	12.37:g.54405101T>G	ENSP00000040584:p.Val222Gly		A8K4J4|O15221|O15362	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif	p.V222G	ENST00000040584.4	37	c.665	CCDS8870.1	12	.	.	.	.	.	.	.	.	.	.	T	9.832	1.188607	0.21954	.	.	ENSG00000037965	ENST00000040584	D	0.90504	-2.68	5.16	2.61	0.31194	.	0.509712	0.18123	N	0.150993	T	0.77370	0.4120	N	0.08118	0	0.54753	D	0.999989	B	0.09022	0.002	B	0.09377	0.004	T	0.68473	-0.5399	10	0.42905	T	0.14	.	5.2754	0.15647	0.0:0.4663:0.0:0.5337	.	222	P31273	HXC8_HUMAN	G	222	ENSP00000040584:V222G	ENSP00000040584:V222G	V	+	2	0	HOXC8	52691368	0.622000	0.27085	1.000000	0.80357	0.992000	0.81027	0.996000	0.29719	0.833000	0.34828	0.528000	0.53228	GTG	HOXC8	-	NULL	ENSG00000037965		0.483	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC8	HGNC	protein_coding	OTTHUMT00000358957.2	340	0.58	2	T			54405101	54405101	+1	no_errors	ENST00000040584	ensembl	human	known	69_37n	missense	238	13.45	37	SNP	1.000	G
HPD	3242	genome.wustl.edu	37	12	122287671	122287671	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:122287671A>C	ENST00000289004.4	-	8	475	c.440T>G	c.(439-441)gTg>gGg	p.V147G	HPD_ENST00000543869.2_5'UTR|HPD_ENST00000543163.1_Missense_Mutation_p.V108G	NM_002150.2	NP_002141	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	147					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CATCTTCTCCACCAGGGTGTG	0.582																																						dbGAP											0													127.0	100.0	109.0					12																	122287671		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014790	CCDS9224.1, CCDS53839.1	12q24.31	2013-09-19			ENSG00000158104	ENSG00000158104	1.13.11.27		5147	protein-coding gene	gene with protein product	"""glyoxalase domain containing 3"""	609695		PPD			Standard	NM_001171993		Approved	4-HPPD, 4HPPD, GLOD3	uc001ubj.3	P32754	OTTHUMG00000169081	ENST00000289004.4:c.440T>G	12.37:g.122287671A>C	ENSP00000289004:p.Val147Gly		A8K461|B3KQ63|Q13234	Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom,pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase	p.V147G	ENST00000289004.4	37	c.440	CCDS9224.1	12	.	.	.	.	.	.	.	.	.	.	A	26.0	4.695298	0.88830	.	.	ENSG00000158104	ENST00000289004;ENST00000545969;ENST00000543163	T;T	0.68479	-0.33;-0.33	5.41	5.41	0.78517	.	0.062470	0.64402	D	0.000005	D	0.84795	0.5551	M	0.90705	3.14	0.80722	D	1	D	0.63880	0.993	D	0.80764	0.994	D	0.88214	0.2892	10	0.87932	D	0	-32.174	15.4475	0.75243	1.0:0.0:0.0:0.0	.	147	P32754	HPPD_HUMAN	G	147;144;108	ENSP00000289004:V147G;ENSP00000441677:V108G	ENSP00000289004:V147G	V	-	2	0	HPD	120772054	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	8.925000	0.92832	2.047000	0.60756	0.533000	0.62120	GTG	HPD	-	pirsf_4OHPhenylPyrv_dOase,tigrfam_4OHPhenylPyrv_dOase	ENSG00000158104		0.582	HPD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HPD	HGNC	protein_coding	OTTHUMT00000402184.1	157	0.00	0	A	NM_002150		122287671	122287671	-1	no_errors	ENST00000289004	ensembl	human	known	69_37n	missense	110	15.67	21	SNP	1.000	C
HRG	3273	genome.wustl.edu	37	3	186395248	186395248	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:186395248A>C	ENST00000232003.4	+	7	1234	c.1154A>C	c.(1153-1155)cAc>cCc	p.H385P		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	385	His/Pro-rich (HRR).				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		catggacaccacccccatgga	0.537																																						dbGAP											0													201.0	121.0	148.0					3																	186395248		2200	4299	6499	-	-	-	SO:0001583	missense	0				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1154A>C	3.37:g.186395248A>C	ENSP00000232003:p.His385Pro		B9EK35|D3DNU7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.H385P	ENST00000232003.4	37	c.1154	CCDS3280.1	3	.	.	.	.	.	.	.	.	.	.	A	7.776	0.708423	0.15239	.	.	ENSG00000113905	ENST00000232003	T	0.15603	2.41	4.61	-9.22	0.00675	.	1.450250	0.04155	N	0.321959	T	0.11879	0.0289	L	0.38175	1.15	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.13019	-1.0525	10	0.22706	T	0.39	2.0027	10.3647	0.44017	0.1749:0.5544:0.2707:0.0	.	385	P04196	HRG_HUMAN	P	385	ENSP00000232003:H385P	ENSP00000232003:H385P	H	+	2	0	HRG	187877942	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.878000	0.00716	-3.222000	0.00211	-0.475000	0.04921	CAC	HRG	-	NULL	ENSG00000113905		0.537	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRG	HGNC	protein_coding	OTTHUMT00000344655.1	130	0.00	0	A	NM_000412		186395248	186395248	+1	no_errors	ENST00000232003	ensembl	human	known	69_37n	missense	103	13.45	16	SNP	0.000	C
HSP90AB1	3326	genome.wustl.edu	37	6	44218084	44218084	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:44218084T>G	ENST00000371554.1	+	6	919	c.705T>G	c.(703-705)ggT>ggG	p.G235G	HSP90AB1_ENST00000353801.3_Silent_p.G235G|HSP90AB1_ENST00000371646.5_Silent_p.G235G			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	235					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			aagagaaaggtgagaaagaag	0.398																																						dbGAP											0													54.0	56.0	55.0					6																	44218084		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.705T>G	6.37:g.44218084T>G			B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.G235	ENST00000371554.1	37	c.705	CCDS4909.1	6																																																																																			HSP90AB1	-	pfam_Hsp90,pirsf_Hsp90	ENSG00000096384		0.398	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	HGNC	protein_coding	OTTHUMT00000040730.1	120	0.82	1	T	NM_007355		44218084	44218084	+1	no_errors	ENST00000353801	ensembl	human	known	69_37n	silent	85	18.10	19	SNP	0.014	G
HSPG2	3339	genome.wustl.edu	37	1	22154746	22154746	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:22154746A>C	ENST00000374695.3	-	89	12489		c.e89+1		HSPG2_ENST00000486901.1_Splice_Site	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGGCTTTCCCACCTTTGAATC	0.647																																						dbGAP											0													62.0	65.0	64.0					1																	22154746		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.12409+1T>G	1.37:g.22154746A>C			Q16287|Q5SZI3|Q9H3V5	Splice_Site	SNP	-	e89+2	ENST00000374695.3	37	c.12409+2	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	A	16.58	3.164146	0.57476	.	.	ENSG00000142798	ENST00000374695	.	.	.	4.5	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3828	0.38325	0.912:0.0:0.088:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HSPG2	22027333	1.000000	0.71417	0.566000	0.28421	0.882000	0.50991	4.371000	0.59523	0.665000	0.31066	0.379000	0.24179	.	HSPG2	-	-	ENSG00000142798		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	66	0.00	0	A	NM_005529	Intron	22154746	22154746	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	splice_site	48	15.79	9	SNP	0.969	C
HSPG2	3339	genome.wustl.edu	37	1	22183529	22183529	+	Missense_Mutation	SNP	T	T	G	rs76330767		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:22183529T>G	ENST00000374695.3	-	44	5633	c.5554A>C	c.(5554-5556)Aca>Cca	p.T1852P	HSPG2_ENST00000430507.1_5'Flank	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1852	Ig-like C2-type 3.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGAGTGGCTGTGCCCTGGTCC	0.532																																						dbGAP											0													160.0	134.0	143.0					1																	22183529		2203	4300	6503	-	-	-	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.5554A>C	1.37:g.22183529T>G	ENSP00000363827:p.Thr1852Pro		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.T1852P	ENST00000374695.3	37	c.5554	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.645005	0.67358	.	.	ENSG00000142798	ENST00000374695	T	0.29917	1.55	4.9	3.69	0.42338	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220422	0.23176	N	0.051064	T	0.41351	0.1155	M	0.62016	1.91	0.39546	D	0.968894	P	0.44281	0.831	P	0.51701	0.677	T	0.43147	-0.9409	10	0.72032	D	0.01	.	9.6792	0.40059	0.1555:0.0:0.0:0.8445	.	1852	P98160	PGBM_HUMAN	P	1852	ENSP00000363827:T1852P	ENSP00000363827:T1852P	T	-	1	0	HSPG2	22056116	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.443000	0.59994	1.979000	0.57680	0.533000	0.62120	ACA	HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000142798		0.532	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	155	0.00	0	T	NM_005529		22183529	22183529	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	missense	100	16.67	20	SNP	0.990	G
HSPG2	3339	genome.wustl.edu	37	1	22204910	22204910	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:22204910T>G	ENST00000374695.3	-	20	2697					NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CAGGGGATGGTGGCAGCCATA	0.667																																						dbGAP											0													20.0	22.0	21.0					1																	22204910		2198	4300	6498	-	-	-	SO:0001627	intron_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2617+15A>C	1.37:g.22204910T>G			Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_EGF_laminin	p.P81	ENST00000374695.3	37	c.243	CCDS30625.1	1																																																																																			HSPG2	-	NULL	ENSG00000142798		0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	43	0.00	0	T	NM_005529		22204910	22204910	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000480900	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	0.001	G
HTR1D	3352	genome.wustl.edu	37	1	23519712	23519712	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:23519712T>G	ENST00000374619.1	-	1	1510	c.1001A>C	c.(1000-1002)cAc>cCc	p.H334P	HTR1D_ENST00000314113.3_Missense_Mutation_p.H334P	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	334					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GAGCGCCGGGTGGATCCAGCA	0.502																																						dbGAP											0													83.0	89.0	87.0					1																	23519712		2203	4300	6503	-	-	-	SO:0001583	missense	0			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.1001A>C	1.37:g.23519712T>G	ENSP00000363748:p.His334Pro			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.H334P	ENST00000374619.1	37	c.1001	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	T	9.821	1.185753	0.21870	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.34472	1.36;1.36	5.34	1.43	0.22495	GPCR, rhodopsin-like superfamily (1);	0.224065	0.45126	N	0.000389	T	0.11495	0.0280	N	0.00608	-1.33	0.39362	D	0.965937	B	0.02656	0.0	B	0.04013	0.001	T	0.08534	-1.0717	10	0.30854	T	0.27	.	12.2731	0.54719	0.0:0.0:0.4484:0.5516	.	334	P28221	5HT1D_HUMAN	P	334	ENSP00000313661:H334P;ENSP00000363748:H334P	ENSP00000313661:H334P	H	-	2	0	HTR1D	23392299	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.043000	0.30316	0.326000	0.23384	0.528000	0.53228	CAC	HTR1D	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000179546		0.502	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	192	0.52	1	T	NM_000864		23519712	23519712	-1	no_errors	ENST00000314113	ensembl	human	known	69_37n	missense	84	13.27	13	SNP	1.000	G
HTR1D	3352	genome.wustl.edu	37	1	23520109	23520109	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:23520109T>G	ENST00000374619.1	-	1	1113	c.604A>C	c.(604-606)Acc>Ccc	p.T202P	HTR1D_ENST00000314113.3_Missense_Mutation_p.T202P	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	202					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intestine smooth muscle contraction (GO:0014827)|regulation of behavior (GO:0050795)|regulation of locomotion (GO:0040012)|response to toxic substance (GO:0009636)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Naratriptan(DB00952)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCCCCACAGGTGGAGTAGATG	0.587																																						dbGAP											0													73.0	79.0	77.0					1																	23520109		2203	4300	6503	-	-	-	SO:0001583	missense	0			M89955	CCDS231.1	1p36.3-p34.3	2012-08-08	2012-02-03		ENSG00000179546	ENSG00000179546		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5289	protein-coding gene	gene with protein product		182133	"""5-hydroxytryptamine (serotonin) receptor 1D"""	HTRL		2541503, 1662665	Standard	NM_000864		Approved	RDC4, HT1DA, 5-HT1D	uc001bgn.3	P28221	OTTHUMG00000003235	ENST00000374619.1:c.604A>C	1.37:g.23520109T>G	ENSP00000363748:p.Thr202Pro			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT1D_rcpt,prints_5HT_rcpt	p.T202P	ENST00000374619.1	37	c.604	CCDS231.1	1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.156913	0.78114	.	.	ENSG00000179546	ENST00000314113;ENST00000374619	T;T	0.73789	-0.78;-0.78	5.57	5.57	0.84162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88477	0.6447	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90824	0.4711	10	0.87932	D	0	.	14.9212	0.70838	0.0:0.0:0.0:1.0	.	202	P28221	5HT1D_HUMAN	P	202	ENSP00000313661:T202P;ENSP00000363748:T202P	ENSP00000313661:T202P	T	-	1	0	HTR1D	23392696	1.000000	0.71417	0.984000	0.44739	0.924000	0.55760	8.040000	0.89188	2.133000	0.65898	0.533000	0.62120	ACC	HTR1D	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt	ENSG00000179546		0.587	HTR1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1D	HGNC	protein_coding	OTTHUMT00000008924.1	146	0.68	1	T	NM_000864		23520109	23520109	-1	no_errors	ENST00000314113	ensembl	human	known	69_37n	missense	94	13.51	15	SNP	1.000	G
HTT	3064	genome.wustl.edu	37	4	3210586	3210586	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:3210586A>C	ENST00000355072.5	+	46	6384	c.6239A>C	c.(6238-6240)cAc>cCc	p.H2080P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2080					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTCTCTTCCCACCCGCTGGAC	0.547																																						dbGAP											0													68.0	68.0	68.0					4																	3210586		2002	4178	6180	-	-	-	SO:0001583	missense	0			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6239A>C	4.37:g.3210586A>C	ENSP00000347184:p.His2080Pro		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.H2080P	ENST00000355072.5	37	c.6239	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	A	27.1	4.803046	0.90623	.	.	ENSG00000197386	ENST00000355072	T	0.06142	3.34	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.00386	-1.1772	10	0.34782	T	0.22	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	2080	P42858	HD_HUMAN	P	2080	ENSP00000347184:H2080P	ENSP00000347184:H2080P	H	+	2	0	HTT	3180384	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.785000	0.75089	2.326000	0.78906	0.533000	0.62120	CAC	HTT	-	NULL	ENSG00000197386		0.547	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	105	0.00	0	A	NM_002111		3210586	3210586	+1	no_errors	ENST00000355072	ensembl	human	known	69_37n	missense	104	17.32	22	SNP	1.000	C
HUWE1	10075	genome.wustl.edu	37	X	53587267	53587267	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:53587267T>G	ENST00000342160.3	-	55	8075	c.7618A>C	c.(7618-7620)Acc>Ccc	p.T2540P	HUWE1_ENST00000262854.6_Missense_Mutation_p.T2540P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2540					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGCCCTGGGTGAGACGAGTT	0.587																																						dbGAP											0													112.0	80.0	91.0					X																	53587267		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7618A>C	X.37:g.53587267T>G	ENSP00000340648:p.Thr2540Pro		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.T2540P	ENST00000342160.3	37	c.7618	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.70|11.70	1.718033|1.718033	0.30503|0.30503	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052|ENST00000342160;ENST00000262854	.|T;T	.|0.37752	.|1.18;1.18	5.69|5.69	4.52|4.52	0.55395|0.55395	.|.	.|0.080540	.|0.64402	.|D	.|0.000007	T|T	0.20251|0.20251	0.0487|0.0487	N|N	0.14661|0.14661	0.345|0.345	0.36876|0.36876	D|D	0.889144|0.889144	.|B;B	.|0.25609	.|0.072;0.13	.|B;B	.|0.31191	.|0.047;0.125	T|T	0.15178|0.15178	-1.0446|-1.0446	5|10	.|0.33940	.|T	.|0.23	.|.	5.1626|5.1626	0.15070|0.15070	0.0:0.2623:0.0:0.7376|0.0:0.2623:0.0:0.7376	.|.	.|2540;2540	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	P|P	1573|2540	.|ENSP00000340648:T2540P;ENSP00000262854:T2540P	.|ENSP00000262854:T2540P	H|T	-|-	2|1	0|0	HUWE1|HUWE1	53603992|53603992	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.978000|0.978000	0.69477|0.69477	3.915000|3.915000	0.56409|0.56409	2.014000|2.014000	0.59158|0.59158	0.486000|0.486000	0.48141|0.48141	CAC|ACC	HUWE1	-	NULL	ENSG00000086758		0.587	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	114	0.86	1	T	XM_497119		53587267	53587267	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	122	12.06	17	SNP	1.000	G
IDS	3423	genome.wustl.edu	37	X	148584847	148584847	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:148584847T>G	ENST00000340855.6	-	3	622	c.413A>C	c.(412-414)cAc>cCc	p.H138P	IDS_ENST00000427113.2_Intron|IDS_ENST00000541269.1_Intron|IDS_ENST00000370443.4_Missense_Mutation_p.H138P|IDS_ENST00000370441.4_Missense_Mutation_p.H138P|IDS_ENST00000422081.2_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.H138P|IDS_ENST00000490775.1_5'UTR	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	138			H -> D (in MPS2; mild/intermediate form). {ECO:0000269|PubMed:9660053}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGTACCAGGGTGAAAGACTTT	0.532																																						dbGAP											0			GRCh37	CM050271	IDS	M							103.0	78.0	86.0					X																	148584847		2202	4298	6500	-	-	-	SO:0001583	missense	0			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.413A>C	X.37:g.148584847T>G	ENSP00000339801:p.His138Pro		D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.H138P	ENST00000340855.6	37	c.413	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889050	0.72524	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443;ENST00000428056	D;D;D;D	0.99904	-5.4;-5.4;-5.4;-7.68	4.6	4.6	0.57074	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase, conserved site (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99917	0.9961	H	0.96691	3.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.96053	0.9033	10	0.87932	D	0	.	13.377	0.60745	0.0:0.0:0.0:1.0	.	138;138;48;138	O60597;P22304-2;B4DGD7;P22304	.;.;.;IDS_HUMAN	P	138	ENSP00000339801:H138P;ENSP00000359470:H138P;ENSP00000359472:H138P;ENSP00000390241:H138P	ENSP00000339801:H138P	H	-	2	0	IDS	148392752	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.551000	0.82182	1.529000	0.49120	0.422000	0.28245	CAC	IDS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000010404		0.532	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	552	0.36	2	T			148584847	148584847	-1	no_errors	ENST00000340855	ensembl	human	known	69_37n	missense	141	10.76	17	SNP	1.000	G
IFI35	3430	genome.wustl.edu	37	17	41165521	41165521	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:41165521T>G	ENST00000415816.2	+	5	627	c.404T>G	c.(403-405)gTg>gGg	p.V135G	IFI35_ENST00000438323.2_Missense_Mutation_p.V137G	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	135					cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GGCCGGAGGGTGTTGGTCACT	0.582																																						dbGAP											0													158.0	159.0	158.0					17																	41165521		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001356	CCDS11450.1	17q21	2006-04-05			ENSG00000068079	ENSG00000068079			5399	protein-coding gene	gene with protein product		600735					Standard	NM_005533		Approved	IFP35	uc021txx.1	P80217	OTTHUMG00000167720	ENST00000415816.2:c.404T>G	17.37:g.41165521T>G	ENSP00000394579:p.Val135Gly		C9JGX1|Q92984|Q99537|Q9BV98	Missense_Mutation	SNP	pfam_Nmi/IFP35,pfam_Interferon_induced_35kDa_N	p.V137G	ENST00000415816.2	37	c.410		17	.	.	.	.	.	.	.	.	.	.	T	16.29	3.080349	0.55753	.	.	ENSG00000068079	ENST00000415816;ENST00000438323	T;T	0.55930	0.49;0.49	5.08	5.08	0.68730	Nmi/IFP 35 (1);	0.132359	0.47455	D	0.000237	T	0.75170	0.3813	M	0.88105	2.93	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.80284	-0.1447	10	0.87932	D	0	.	12.3447	0.55114	0.0:0.0:0.0:1.0	.	135	P80217	IN35_HUMAN	G	135;137	ENSP00000394579:V135G;ENSP00000395590:V137G	ENSP00000394579:V135G	V	+	2	0	IFI35	38419047	1.000000	0.71417	0.969000	0.41365	0.278000	0.26855	5.096000	0.64535	2.136000	0.66102	0.459000	0.35465	GTG	IFI35	-	pfam_Nmi/IFP35	ENSG00000068079		0.582	IFI35-002	KNOWN	basic|appris_candidate	protein_coding	IFI35	HGNC	protein_coding	OTTHUMT00000395851.1	251	0.78	2	T	NM_005533		41165521	41165521	+1	no_errors	ENST00000438323	ensembl	human	known	69_37n	missense	160	16.67	32	SNP	0.960	G
IGBP1	3476	genome.wustl.edu	37	X	69385790	69385790	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:69385790A>C	ENST00000342206.6	+	6	1478	c.979A>C	c.(979-981)Acc>Ccc	p.T327P	IGBP1-AS1_ENST00000366397.3_RNA|IGBP1_ENST00000356413.4_Missense_Mutation_p.T327P			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	327					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CTGGAAGGACACCCATCCTAG	0.532																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	dbGAP											0													95.0	74.0	81.0					X																	69385790		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.979A>C	X.37:g.69385790A>C	ENSP00000363661:p.Thr327Pro		Q8TAB2	Missense_Mutation	SNP	pfam_TAP42-like	p.T327P	ENST00000342206.6	37	c.979	CCDS14396.1	X	.	.	.	.	.	.	.	.	.	.	.	23.1	4.370301	0.82573	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.45276	0.9;0.9	5.5	5.5	0.81552	.	0.052733	0.85682	D	0.000000	T	0.59404	0.2191	M	0.73217	2.22	0.54753	D	0.999982	P	0.50943	0.94	P	0.62491	0.903	T	0.63470	-0.6630	10	0.87932	D	0	.	10.6279	0.45519	1.0:0.0:0.0:0.0	.	327	P78318	IGBP1_HUMAN	P	327	ENSP00000363661:T327P;ENSP00000348784:T327P	ENSP00000363661:T327P	T	+	1	0	IGBP1	69302515	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.164000	0.58190	2.036000	0.60181	0.486000	0.48141	ACC	IGBP1	-	pfam_TAP42-like	ENSG00000089289		0.532	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGBP1	HGNC	protein_coding	OTTHUMT00000057052.1	290	0.00	0	A			69385790	69385790	+1	no_errors	ENST00000342206	ensembl	human	known	69_37n	missense	243	14.08	40	SNP	1.000	C
IGHA1	3493	genome.wustl.edu	37	14	106173558	106173558	+	RNA	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:106173558T>G	ENST00000390547.2	-	0	1008				AL928768.3_ENST00000497872.2_lincRNA			P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										TTGACATGGGTGGGTTTACCC	0.622																																						dbGAP											0													42.0	73.0	63.0					14																	106173558		2072	4231	6303	-	-	-			0			J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106173558T>G				Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.T337P	ENST00000390547.2	37	c.1009		14																																																																																			IGHA1	-	NULL	ENSG00000211895		0.622	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGHA1	HGNC	IG_C_gene	OTTHUMT00000326459.1	115	0.00	0	T	NG_001019		106173558	106173558	-1	no_start_codon	ENST00000390547	ensembl	human	known	69_37n	missense	75	15.38	14	SNP	0.987	G
IGHJ6	28475	genome.wustl.edu	37	14	106331430	106331430	+	RNA	SNP	T	T	G	rs553190130	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:106331430T>G	ENST00000390560.2	-	0	0				IGHJ1_ENST00000390565.1_RNA|IGHJ3_ENST00000463911.1_RNA|IGHJ4_ENST00000461719.1_RNA|IGHJ2_ENST00000390564.2_RNA|IGHD7-27_ENST00000439842.1_RNA|IGHJ5_ENST00000488476.1_RNA					immunoglobulin heavy joining 6																		GTGACCAGGGTGCCACGGCCC	0.632																																						dbGAP											0													97.0	132.0	120.0					14																	106331430		2079	3990	6069	-	-	-			0			J00256		14q32.33	2012-02-08			ENSG00000211900	ENSG00000211900		"""Immunoglobulins / IGH locus"""	5540	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152455		14.37:g.106331430T>G				Missense_Mutation	SNP	NULL	p.T11P	ENST00000390560.2	37	c.31		14																																																																																			IGHJ2	-	NULL	ENSG00000211904		0.632	IGHJ6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IGHJ2	HGNC	IG_J_gene	OTTHUMT00000326277.1	221	0.90	2	T	NG_001019		106331430	106331430	-1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390564	ensembl	human	known	69_37n	missense	142	16.76	29	SNP	0.000	G
IGHV2-26	28455	genome.wustl.edu	37	14	106758056	106758056	+	RNA	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:106758056T>G	ENST00000390611.2	-	0	60									immunoglobulin heavy variable 2-26																		CAGGAAGGGGTGGTCAGCAGC	0.552																																						dbGAP											0													110.0	111.0	111.0					14																	106758056		1991	4161	6152	-	-	-			0			M99648		14q32.33	2012-02-08			ENSG00000211951	ENSG00000211951		"""Immunoglobulins / IGH locus"""	5575	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152100		14.37:g.106758056T>G				Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.T13P	ENST00000390611.2	37	c.37		14																																																																																			IGHV2-26	-	NULL	ENSG00000211951		0.552	IGHV2-26-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV2-26	HGNC	IG_V_gene	OTTHUMT00000325197.1	175	0.56	1	T	NG_001019		106758056	106758056	-1	no_stop_codon	ENST00000390611	ensembl	human	known	69_37n	missense	119	17.69	26	SNP	0.000	G
IGSF9	57549	genome.wustl.edu	37	1	159904305	159904305	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:159904305T>G	ENST00000368094.1	-	8	1068	c.871A>C	c.(871-873)Acc>Ccc	p.T291P	IGSF9_ENST00000493195.1_5'Flank|IGSF9_ENST00000361509.3_Missense_Mutation_p.T291P	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	291	Ig-like 3.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TCAGGCTGGGTGGCCAGCAGC	0.662																																						dbGAP											0													24.0	24.0	24.0					1																	159904305		2199	4293	6492	-	-	-	SO:0001583	missense	0			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.871A>C	1.37:g.159904305T>G	ENSP00000357073:p.Thr291Pro			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T291P	ENST00000368094.1	37	c.871	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.331856	0.24167	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.12774	2.65;2.65	4.48	-2.47	0.06442	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.611411	0.13449	N	0.387094	T	0.07413	0.0187	N	0.25485	0.75	0.09310	N	0.999997	P;D	0.58620	0.808;0.983	P;P	0.60886	0.588;0.88	T	0.26503	-1.0101	9	.	.	.	-0.2589	10.0277	0.42081	0.0:0.383:0.0:0.617	.	291;291	Q9P2J2;C9JI81	TUTLA_HUMAN;.	P	291	ENSP00000355049:T291P;ENSP00000357073:T291P	.	T	-	1	0	IGSF9	158170929	0.000000	0.05858	0.007000	0.13788	0.112000	0.19704	-0.769000	0.04710	-0.347000	0.08299	-0.425000	0.05940	ACC	IGSF9	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000085552		0.662	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	66	0.00	0	T	NM_020789		159904305	159904305	-1	no_errors	ENST00000368094	ensembl	human	known	69_37n	missense	65	20.73	17	SNP	0.002	G
IKBKE	9641	genome.wustl.edu	37	1	206649605	206649605	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:206649605A>G	ENST00000367120.3	+	6	813	c.440A>G	c.(439-441)gAg>gGg	p.E147G	IKBKE_ENST00000537984.1_Missense_Mutation_p.E62G	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	147	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CTCGTAGGGGAGGAGGGGCAG	0.612																																						dbGAP											0													122.0	104.0	110.0					1																	206649605		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.440A>G	1.37:g.206649605A>G	ENSP00000356087:p.Glu147Gly		D3DT78|Q3B754|Q3KR43|Q5JTS6	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.E147G	ENST00000367120.3	37	c.440	CCDS30996.1	1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.519082	0.64634	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.67523	-0.27;-0.27	5.41	3.01	0.34805	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.183957	0.47093	D	0.000250	T	0.69079	0.3071	L	0.45698	1.435	0.32615	N	0.524086	D;D	0.56968	0.967;0.978	P;P	0.57846	0.76;0.828	T	0.74405	-0.3676	10	0.72032	D	0.01	.	8.2478	0.31700	0.796:0.1341:0.0699:0.0	.	62;147	Q3B754;Q14164	.;IKKE_HUMAN	G	147;62	ENSP00000356087:E147G;ENSP00000444529:E62G	ENSP00000356087:E147G	E	+	2	0	IKBKE	204716228	1.000000	0.71417	0.001000	0.08648	0.944000	0.59088	5.233000	0.65337	0.409000	0.25649	0.402000	0.26972	GAG	IKBKE	-	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	ENSG00000143466		0.612	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKBKE	HGNC	protein_coding	OTTHUMT00000088484.1	133	0.75	1	A			206649605	206649605	+1	no_errors	ENST00000367120	ensembl	human	known	69_37n	missense	105	13.22	16	SNP	0.515	G
IL12RB1	3594	genome.wustl.edu	37	19	18179220	18179220	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:18179220T>G	ENST00000600835.2	-	12	1604	c.1306A>C	c.(1306-1308)Acc>Ccc	p.T436P	IL12RB1_ENST00000593993.2_Missense_Mutation_p.T436P			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	436	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AAGTGGTAGGTGGACAGGACC	0.463																																						dbGAP											0													79.0	78.0	78.0					19																	18179220		1947	4145	6092	-	-	-	SO:0001583	missense	0			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1306A>C	19.37:g.18179220T>G	ENSP00000470788:p.Thr436Pro		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T436P	ENST00000600835.2	37	c.1306	CCDS54232.1	19	.	.	.	.	.	.	.	.	.	.	T	6.463	0.453616	0.12283	.	.	ENSG00000096996	ENST00000430026	D	0.82433	-1.61	4.6	-1.66	0.08265	.	0.500214	0.18432	N	0.141415	T	0.73016	0.3533	L	0.60455	1.87	0.38242	D	0.941342	P;P	0.46220	0.874;0.8	B;B	0.38616	0.277;0.143	T	0.67628	-0.5622	10	0.66056	D	0.02	-18.336	4.7729	0.13164	0.1455:0.3673:0.0:0.4872	.	436;436	P42701-2;P42701	.;I12R1_HUMAN	P	436	ENSP00000403103:T436P	ENSP00000403103:T436P	T	-	1	0	IL12RB1	18040220	0.937000	0.31787	0.878000	0.34440	0.003000	0.03518	-0.034000	0.12225	-0.376000	0.07943	-1.145000	0.01858	ACC	IL12RB1	-	NULL	ENSG00000096996		0.463	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	HGNC	protein_coding	OTTHUMT00000466525.3	164	0.00	0	T			18179220	18179220	-1	no_errors	ENST00000430026	ensembl	human	known	69_37n	missense	80	22.33	23	SNP	0.661	G
IL12RB1	3594	genome.wustl.edu	37	19	18179244	18179244	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:18179244T>G	ENST00000600835.2	-	12	1580	c.1282A>C	c.(1282-1284)Acc>Ccc	p.T428P	IL12RB1_ENST00000593993.2_Missense_Mutation_p.T428P			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	428	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GACCACAAGGTGAGCTTCTCG	0.473																																						dbGAP											0													95.0	97.0	96.0					19																	18179244		1992	4170	6162	-	-	-	SO:0001583	missense	0			U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.1282A>C	19.37:g.18179244T>G	ENSP00000470788:p.Thr428Pro		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.T428P	ENST00000600835.2	37	c.1282	CCDS54232.1	19	.	.	.	.	.	.	.	.	.	.	T	11.37	1.618505	0.28801	.	.	ENSG00000096996	ENST00000430026	T	0.81247	-1.47	4.6	2.34	0.29019	.	0.715281	0.12556	N	0.458605	T	0.78097	0.4230	L	0.57536	1.79	0.09310	N	1	D;D	0.56968	0.978;0.963	P;B	0.50754	0.649;0.446	T	0.64262	-0.6449	10	0.21540	T	0.41	-18.8315	4.7873	0.13230	0.0:0.1075:0.1906:0.7018	.	428;428	P42701-2;P42701	.;I12R1_HUMAN	P	428	ENSP00000403103:T428P	ENSP00000403103:T428P	T	-	1	0	IL12RB1	18040244	0.000000	0.05858	0.017000	0.16124	0.005000	0.04900	-0.236000	0.09003	0.740000	0.32651	0.459000	0.35465	ACC	IL12RB1	-	NULL	ENSG00000096996		0.473	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	HGNC	protein_coding	OTTHUMT00000466525.3	176	0.56	1	T			18179244	18179244	-1	no_errors	ENST00000430026	ensembl	human	known	69_37n	missense	96	14.91	17	SNP	0.000	G
IL22RA1	58985	genome.wustl.edu	37	1	24463753	24463753	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:24463753T>G	ENST00000270800.1	-	3	261	c.223A>C	c.(223-225)Acc>Ccc	p.T75P		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	75	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)	integral component of membrane (GO:0016021)	interferon receptor activity (GO:0004904)			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		GACTTCCGGGTGATCCGCTGA	0.627																																						dbGAP											0													93.0	82.0	86.0					1																	24463753		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677		"""Interleukins and interleukin receptors"""	13700	protein-coding gene	gene with protein product		605457	"""interleukin 22 receptor"""	IL22R		10875937	Standard	NM_021258		Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.223A>C	1.37:g.24463753T>G	ENSP00000270800:p.Thr75Pro		A8K839|B2R9Y9|Q9HB22	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.T75P	ENST00000270800.1	37	c.223	CCDS247.1	1	.	.	.	.	.	.	.	.	.	.	T	13.54	2.267161	0.40095	.	.	ENSG00000142677	ENST00000270800	T	0.75477	-0.94	5.2	2.78	0.32641	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.393546	0.28171	N	0.016340	T	0.67163	0.2864	L	0.60455	1.87	0.40358	D	0.979215	B	0.22800	0.075	B	0.28465	0.09	T	0.59413	-0.7459	10	0.41790	T	0.15	-22.3417	5.8571	0.18727	0.1664:0.0:0.1739:0.6597	.	75	Q8N6P7	I22R1_HUMAN	P	75	ENSP00000270800:T75P	ENSP00000270800:T75P	T	-	1	0	IL22RA1	24336340	1.000000	0.71417	0.951000	0.38953	0.017000	0.09413	1.044000	0.30329	0.265000	0.21872	-0.313000	0.08912	ACC	IL22RA1	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142677		0.627	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	IL22RA1	HGNC	protein_coding	OTTHUMT00000008412.1	138	0.00	0	T			24463753	24463753	-1	no_errors	ENST00000270800	ensembl	human	known	69_37n	missense	64	20.00	16	SNP	0.970	G
IL36G	56300	genome.wustl.edu	37	2	113736245	113736245	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:113736245T>G	ENST00000259205.4	+	2	99	c.30T>G	c.(28-30)ggT>ggG	p.G10G	IL36G_ENST00000376489.2_Silent_p.G10G	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	10					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						ACGCTGATGGTGGAGGAAGGG	0.522																																						dbGAP											0													149.0	134.0	139.0					2																	113736245		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.30T>G	2.37:g.113736245T>G			Q56B91|Q6UVX7|Q7RTZ9	Silent	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_IL_rcpt_IL1RA,prints_Interleukin_1	p.G10	ENST00000259205.4	37	c.30	CCDS2108.1	2																																																																																			IL36G	-	NULL	ENSG00000136688		0.522	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL36G	HGNC	protein_coding	OTTHUMT00000330713.2	210	0.47	1	T	NM_019618		113736245	113736245	+1	no_errors	ENST00000259205	ensembl	human	known	69_37n	silent	135	11.04	17	SNP	0.001	G
IL3RA	3563	genome.wustl.edu	37	X	1501285	1501285	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:1501285T>G	ENST00000331035.4	+	12	1413	c.1064T>G	c.(1063-1065)gTg>gGg	p.V355G	IL3RA_ENST00000381469.2_Splice_Site_p.V277G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	355					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCTCTGCAGGTGGTCTGGGAG	0.622																																						dbGAP											0													145.0	160.0	155.0					X																	1501285		2203	4296	6499	-	-	-	SO:0001630	splice_region_variant	0			M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.1063-1T>G	X.37:g.1501285T>G			A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.V355G	ENST00000331035.4	37	c.1064	CCDS14113.1	X	.	.	.	.	.	.	.	.	.	.	.	11.38	1.623160	0.28889	.	.	ENSG00000185291	ENST00000331035;ENST00000381469	T;T	0.38887	1.37;1.11	1.7	0.285	0.15705	.	4.601680	0.03652	U	0.241102	T	0.41971	0.1182	L	0.38175	1.15	0.09310	N	1	P;P	0.52061	0.948;0.95	P;P	0.53450	0.726;0.634	T	0.21930	-1.0231	10	0.22109	T	0.4	.	3.672	0.08277	0.3418:0.0:0.0:0.6582	.	276;355	P26951-2;P26951	.;IL3RA_HUMAN	G	355;277	ENSP00000327890:V355G;ENSP00000370878:V277G	ENSP00000327890:V355G	V	+	2	0	IL3RA	1461285	0.004000	0.15560	0.031000	0.17742	0.472000	0.32918	0.302000	0.19192	-0.090000	0.12462	0.084000	0.15446	GTG	IL3RA	-	NULL	ENSG00000185291		0.622	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3RA	HGNC	protein_coding	OTTHUMT00000055600.3	319	0.31	1	T		Missense_Mutation	1501285	1501285	+1	no_errors	ENST00000331035	ensembl	human	known	69_37n	missense	275	12.34	39	SNP	0.085	G
IL9R	3581	genome.wustl.edu	37	X	155233503	155233503	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:155233503A>C	ENST00000244174.5	+	4	595	c.416A>C	c.(415-417)tAc>tCc	p.Y139S	IL9R_ENST00000424344.3_Missense_Mutation_p.Y118S|IL9R_ENST00000369423.2_Missense_Mutation_p.T184P|IL9R_ENST00000540897.1_Missense_Mutation_p.T174P	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	139					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACCCGGAGTACCTGCCCCGG	0.622																																						dbGAP											0													96.0	91.0	93.0					X																	155233503		2203	4296	6499	-	-	-	SO:0001583	missense	0			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.416A>C	X.37:g.155233503A>C	ENSP00000244174:p.Tyr139Ser		B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.Y139S	ENST00000244174.5	37	c.416	CCDS14771.4	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.27|10.27	1.302941|1.302941	0.23736|0.23736	.|.	.|.	ENSG00000124334|ENSG00000124334	ENST00000369423;ENST00000540897|ENST00000244174;ENST00000424344;ENST00000455739	T;T|T;T	0.30981|0.32272	1.51;1.51|1.46;1.46	1.29|1.29	1.29|1.29	0.21616|0.21616	.|.	.|0.172072	.|0.39834	.|N	.|0.001253	T|T	0.35770|0.35770	0.0943|0.0943	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	P|D;D	0.41910|0.63046	0.764|0.992;0.96	B|P;P	0.29176|0.55161	0.099|0.77;0.663	T|T	0.09530|0.09530	-1.0670|-1.0670	8|9	0.22109|0.56958	T|D	0.4|0.05	-18.2107|-18.2107	4.3588|4.3588	0.11192|0.11192	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	184|118;139	B9ZVT0|F5H3Z0;Q01113	.|.;IL9R_HUMAN	P|S	184;174|139;118;118	ENSP00000358431:T184P;ENSP00000438112:T174P|ENSP00000244174:Y139S;ENSP00000388918:Y118S	ENSP00000358431:T184P|ENSP00000244174:Y139S	T|Y	+|+	1|2	0|0	IL9R|IL9R	154886697|154886697	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.623000|0.623000	0.37688|0.37688	2.540000|2.540000	0.45727|0.45727	0.766000|0.766000	0.33244|0.33244	0.238000|0.238000	0.17879|0.17879	ACC|TAC	IL9R	-	superfamily_Fibronectin_type3	ENSG00000124334		0.622	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	196	0.00	0	A	NM_002186		155233503	155233503	+1	no_errors	ENST00000244174	ensembl	human	known	69_37n	missense	150	15.17	27	SNP	0.993	C
ILDR1	286676	genome.wustl.edu	37	3	121712521	121712521	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:121712521A>G	ENST00000344209.5	-	7	1201	c.1075T>C	c.(1075-1077)Tcc>Ccc	p.S359P	ILDR1_ENST00000273691.3_Missense_Mutation_p.S315P|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.S327P|ILDR1_ENST00000393631.1_Missense_Mutation_p.S270P	NM_001199799.1	NP_001186728.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	359					positive regulation of peptide hormone secretion (GO:0090277)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-density lipoprotein particle receptor activity (GO:0070506)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CAGGGCCTGGAGGGAATTGGG	0.597																																						dbGAP											0													58.0	59.0	59.0					3																	121712521		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC044240	CCDS3008.1, CCDS56270.1, CCDS56271.1	3q21.1	2013-10-11			ENSG00000145103	ENSG00000145103			28741	protein-coding gene	gene with protein product		609739	"""deafness, autosomal recessive 42"""	DFNB42		15641023, 21255762	Standard	NM_175924		Approved	MGC50831	uc003ees.3	Q86SU0	OTTHUMG00000159481	ENST00000344209.5:c.1075T>C	3.37:g.121712521A>G	ENSP00000345667:p.Ser359Pro		Q6ZP61|Q7Z578	Missense_Mutation	SNP	pfam_LISCH7,smart_Ig_sub	p.S359P	ENST00000344209.5	37	c.1075	CCDS56271.1	3	.	.	.	.	.	.	.	.	.	.	A	3.999	-0.003007	0.07773	.	.	ENSG00000145103	ENST00000273691;ENST00000344209;ENST00000393631;ENST00000462014	T;T;T;T	0.77489	-0.51;-0.51;-1.1;-0.1	5.6	-2.42	0.06542	.	0.708962	0.14642	N	0.307127	T	0.47728	0.1461	N	0.08118	0	0.09310	N	1	B;B;B;B	0.15141	0.012;0.0;0.0;0.001	B;B;B;B	0.12156	0.007;0.001;0.002;0.003	T	0.27571	-1.0070	10	0.21014	T	0.42	-2.9321	1.9418	0.03348	0.4498:0.1286:0.2948:0.1268	.	270;359;315;327	Q86SU0-5;Q86SU0;Q86SU0-2;Q86SU0-6	.;ILDR1_HUMAN;.;.	P	315;359;270;327	ENSP00000273691:S315P;ENSP00000345667:S359P;ENSP00000377251:S270P;ENSP00000419414:S327P	ENSP00000273691:S315P	S	-	1	0	ILDR1	123195211	0.001000	0.12720	0.004000	0.12327	0.121000	0.20230	-0.218000	0.09240	-0.128000	0.11641	0.533000	0.62120	TCC	ILDR1	-	NULL	ENSG00000145103		0.597	ILDR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ILDR1	HGNC	protein_coding	OTTHUMT00000355666.1	119	0.83	1	A	NM_175924		121712521	121712521	-1	no_errors	ENST00000344209	ensembl	human	known	69_37n	missense	94	16.07	18	SNP	0.001	G
IMMT	10989	genome.wustl.edu	37	2	86389158	86389158	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:86389158A>C	ENST00000410111.3	-	8	1224	c.837T>G	c.(835-837)ggT>ggG	p.G279G	Y_RNA_ENST00000363371.1_RNA|IMMT_ENST00000490238.1_5'UTR|IMMT_ENST00000409051.2_Silent_p.G232G|IMMT_ENST00000449247.2_Silent_p.G268G|IMMT_ENST00000254636.5_Silent_p.G180G|IMMT_ENST00000442664.2_Silent_p.G278G	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	279					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)	p.G279G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTTCAATGCACCCTCCACTG	0.398																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											52.0	51.0	51.0					2																	86389158		1928	4152	6080	-	-	-	SO:0001819	synonymous_variant	0			D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.837T>G	2.37:g.86389158A>C			B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	pfam_Mt-IM_prot_Mitofilin	p.C134G	ENST00000410111.3	37	c.400	CCDS46355.1	2	.	.	.	.	.	.	.	.	.	.	A	10.24	1.296830	0.23650	.	.	ENSG00000132305	ENST00000419070	.	.	.	4.94	-4.56	0.03431	.	.	.	.	.	T	0.35856	0.0946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	-16.6829	0.9534	0.01381	0.3406:0.0975:0.1911:0.3708	.	.	.	.	G	134	.	.	C	-	1	0	IMMT	86242669	0.953000	0.32496	0.867000	0.34043	0.966000	0.64601	-0.048000	0.11944	-0.580000	0.05944	0.391000	0.25812	TGC	IMMT	-	pfam_Mt-IM_prot_Mitofilin	ENSG00000132305		0.398	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IMMT	HGNC	protein_coding	OTTHUMT00000329909.2	159	0.62	1	A	NM_006839		86389158	86389158	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419070	ensembl	human	novel	69_37n	missense	129	20.37	33	SNP	0.855	C
IMPA1	3612	genome.wustl.edu	37	8	82598083	82598083	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:82598083A>C	ENST00000256108.5	-	1	442				IMPA1_ENST00000449740.2_Missense_Mutation_p.V23G|IMPA1_ENST00000311489.4_Intron|IMPA1_ENST00000523710.1_Intron	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1						inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|inositol monophosphate phosphatase activity (GO:0052834)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	GAGCCAGGCCACCTTCCTTTT	0.567																																						dbGAP											0													91.0	72.0	78.0					8																	82598083		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS6231.1, CCDS47883.1, CCDS47884.1	8q21.1-q21.3	2008-01-28			ENSG00000133731	ENSG00000133731	3.1.3.25		6050	protein-coding gene	gene with protein product		602064		IMPA		1377913	Standard	NM_005536		Approved		uc011lfq.1	P29218	OTTHUMG00000164682	ENST00000256108.5:c.23+403T>G	8.37:g.82598083A>C			B2R733|B4DLN3|B7Z6Q4|J3KQT7|Q9UK71	Missense_Mutation	SNP	pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen,prints_Inositol_monophosphatase	p.V23G	ENST00000256108.5	37	c.68	CCDS6231.1	8	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762094	0.31228	.	.	ENSG00000133731	ENST00000449740;ENST00000522997	T;T	0.37752	1.23;1.18	2.61	0.00606	0.14065	.	.	.	.	.	T	0.17492	0.0420	N	0.08118	0	0.09310	N	1	B	0.19445	0.036	B	0.22753	0.041	T	0.23691	-1.0181	9	0.87932	D	0	.	4.7411	0.13013	0.6907:0.0:0.3093:0.0	.	23	B7Z6Q4	.	G	23	ENSP00000408526:V23G;ENSP00000430081:V23G	ENSP00000408526:V23G	V	-	2	0	IMPA1	82760638	0.000000	0.05858	0.000000	0.03702	0.077000	0.17291	-0.434000	0.06939	0.020000	0.15106	0.444000	0.29173	GTG	IMPA1	-	NULL	ENSG00000133731		0.567	IMPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA1	HGNC	protein_coding	OTTHUMT00000379723.1	49	0.00	0	A			82598083	82598083	-1	no_errors	ENST00000449740	ensembl	human	known	69_37n	missense	122	12.86	18	SNP	0.000	C
INHBE	83729	genome.wustl.edu	37	12	57849975	57849975	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:57849975A>C	ENST00000266646.2	+	2	613	c.397A>C	c.(397-399)Acc>Ccc	p.T133P	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	133					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CGTGCTCCCCACCCTTCCTGG	0.612											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(191;1808 2166 15720 36624 50371)	dbGAP											0													141.0	139.0	140.0					12																	57849975		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.397A>C	12.37:g.57849975A>C	ENSP00000266646:p.Thr133Pro	1026		Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaC,prints_Inhibin_asu	p.T133P	ENST00000266646.2	37	c.397	CCDS8939.1	12	.	.	.	.	.	.	.	.	.	.	A	8.572	0.880193	0.17467	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.81659	-1.52;-0.12	4.37	0.541	0.17168	Transforming growth factor-beta, N-terminal (1);	0.425883	0.25019	N	0.033779	T	0.70141	0.3190	L	0.54323	1.7	0.28073	N	0.932488	B	0.14805	0.011	B	0.24394	0.053	T	0.56032	-0.8046	10	0.30078	T	0.28	-3.5671	3.7402	0.08527	0.6438:0.0:0.1898:0.1665	.	133	P58166	INHBE_HUMAN	P	78;133	ENSP00000450212:T78P;ENSP00000266646:T133P	ENSP00000266646:T133P	T	+	1	0	INHBE	56136242	0.002000	0.14202	0.587000	0.28692	0.516000	0.34256	0.714000	0.25808	-0.002000	0.14469	0.459000	0.35465	ACC	INHBE	-	pfam_TGF-b_N	ENSG00000139269		0.612	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBE	HGNC	protein_coding	OTTHUMT00000406773.1	98	0.98	1	A	NM_031479		57849975	57849975	+1	no_errors	ENST00000266646	ensembl	human	known	69_37n	missense	83	19.42	20	SNP	0.967	C
INS-IGF2	723961	genome.wustl.edu	37	11	2182116	2182116	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:2182116T>G	ENST00000397270.1	-	2	144	c.86A>C	c.(85-87)cAc>cCc	p.H29P	INS_ENST00000397262.1_Missense_Mutation_p.H29P|INS-IGF2_ENST00000481781.1_5'Flank|INS_ENST00000250971.3_Missense_Mutation_p.H29P|INS_ENST00000512523.1_Missense_Mutation_p.H29P|INS_ENST00000381330.4_Missense_Mutation_p.H29P	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	29						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GCCGCACAGGTGTTGGTTCAC	0.647																																						dbGAP											0													50.0	51.0	51.0					11																	2182116		2200	4296	6496	-	-	-	SO:0001583	missense	0			DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.86A>C	11.37:g.2182116T>G	ENSP00000380440:p.His29Pro		Q1WM24	Missense_Mutation	SNP	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin	p.H29P	ENST00000397270.1	37	c.86	CCDS41598.1	11	.	.	.	.	.	.	.	.	.	.	T	15.19	2.760175	0.49468	.	.	ENSG00000129965;ENSG00000254647;ENSG00000254647;ENSG00000254647;ENSG00000254647;ENSG00000254647	ENST00000397270;ENST00000397262;ENST00000250971;ENST00000381330;ENST00000421783;ENST00000512523	D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	3.92	2.77	0.32553	Insulin-like (4);	0.057292	0.64402	D	0.000003	D	0.94059	0.8096	M	0.89095	3.005	0.58432	D	0.999997	D;D;P	0.89917	0.999;1.0;0.801	D;D;P	0.85130	0.995;0.997;0.681	D	0.92796	0.6252	10	0.72032	D	0.01	.	8.5114	0.33220	0.0:0.0973:0.0:0.9027	.	29;29;29	A6XGL2;P01308;F8WCM5	.;INS_HUMAN;.	P	29	ENSP00000380440:H29P;ENSP00000380432:H29P;ENSP00000250971:H29P;ENSP00000370731:H29P;ENSP00000408400:H29P;ENSP00000424008:H29P	ENSP00000250971:H29P	H	-	2	0	INS;INS-IGF2	2138692	1.000000	0.71417	0.950000	0.38849	0.292000	0.27327	3.827000	0.55745	0.504000	0.28082	-0.388000	0.06559	CAC	INS-IGF2	-	pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Insulin	ENSG00000129965		0.647	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	INS-IGF2	HGNC	protein_coding	OTTHUMT00000388404.1	52	0.00	0	T	NM_001042376.2		2182116	2182116	-1	no_errors	ENST00000356578	ensembl	human	known	69_37n	missense	39	13.04	6	SNP	1.000	G
INTS1	26173	genome.wustl.edu	37	7	1510191	1510191	+	3'UTR	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:1510191A>G	ENST00000404767.3	-	0	6680				INTS1_ENST00000389470.4_3'UTR	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1						inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGGGGCTTGGAGGGGGGTCGG	0.697																																						dbGAP											0													16.0	26.0	23.0					7																	1510191		1956	4102	6058	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.*22T>C	7.37:g.1510191A>G			A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	RNA	SNP	-	NULL	ENST00000404767.3	37	NULL	CCDS47526.1	7																																																																																			INTS1	-	-	ENSG00000164880		0.697	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS1	HGNC	protein_coding	OTTHUMT00000323683.1	38	0.00	0	A			1510191	1510191	-1	no_errors	ENST00000493446	ensembl	human	known	69_37n	rna	24	31.43	11	SNP	0.000	G
INTS9	55756	genome.wustl.edu	37	8	28671028	28671028	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:28671028A>C	ENST00000521022.1	-	7	671	c.590T>G	c.(589-591)gTg>gGg	p.V197G	INTS9_ENST00000416984.2_Missense_Mutation_p.V176G|INTS9_ENST00000521777.1_Missense_Mutation_p.V173G|INTS9_ENST00000397363.4_Missense_Mutation_p.V91G	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	197					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		AGAATATCCCACCAGCTGGAT	0.383																																						dbGAP											0													147.0	142.0	144.0					8																	28671028		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.590T>G	8.37:g.28671028A>C	ENSP00000429065:p.Val197Gly		B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	pfam_Beta_Casp	p.V197G	ENST00000521022.1	37	c.590	CCDS34873.1	8	.	.	.	.	.	.	.	.	.	.	A	23.1	4.381191	0.82792	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363;ENST00000523436	T;T;T;T;T	0.56611	0.46;0.46;0.45;0.47;0.75	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.73806	0.3634	M	0.79693	2.465	0.80722	D	1	D;D;D	0.67145	0.968;0.996;0.994	P;D;P	0.68483	0.825;0.958;0.862	T	0.77643	-0.2511	10	0.87932	D	0	-24.8789	16.2316	0.82347	1.0:0.0:0.0:0.0	.	176;197;197	B7Z6M5;G3XAN1;Q9NV88	.;.;INT9_HUMAN	G	197;176;41;173;91;197	ENSP00000429065:V197G;ENSP00000398208:V176G;ENSP00000430943:V173G;ENSP00000380520:V91G;ENSP00000427789:V197G	ENSP00000380520:V91G	V	-	2	0	INTS9	28726947	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.826000	0.92034	2.308000	0.77769	0.533000	0.62120	GTG	INTS9	-	NULL	ENSG00000104299		0.383	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS9	HGNC	protein_coding	OTTHUMT00000376846.1	135	0.00	0	A	NM_018250		28671028	28671028	-1	no_errors	ENST00000521022	ensembl	human	known	69_37n	missense	276	11.54	36	SNP	1.000	C
IP6K3	117283	genome.wustl.edu	37	6	33694552	33694552	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:33694552T>G	ENST00000293756.4	-	4	871	c.545A>C	c.(544-546)cAc>cCc	p.H182P	IP6K3_ENST00000451316.1_Missense_Mutation_p.H182P	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	182					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						GCGGGTCAGGTGGGCCTGGTG	0.612																																						dbGAP											0													77.0	70.0	72.0					6																	33694552		2203	4300	6503	-	-	-	SO:0001583	missense	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.545A>C	6.37:g.33694552T>G	ENSP00000293756:p.His182Pro		Q96MQ9	Missense_Mutation	SNP	pfam_IPK	p.H182P	ENST00000293756.4	37	c.545	CCDS34435.1	6	.	.	.	.	.	.	.	.	.	.	T	24.7	4.556252	0.86231	.	.	ENSG00000161896	ENST00000451316;ENST00000293756	T;T	0.18502	2.21;2.21	5.24	5.24	0.73138	.	0.081063	0.53938	D	0.000059	T	0.33411	0.0862	M	0.83483	2.645	0.58432	D	0.99999	D	0.76494	0.999	D	0.66196	0.942	T	0.16100	-1.0414	10	0.41790	T	0.15	-36.4739	15.1288	0.72503	0.0:0.0:0.0:1.0	.	182	Q96PC2	IP6K3_HUMAN	P	182	ENSP00000398861:H182P;ENSP00000293756:H182P	ENSP00000293756:H182P	H	-	2	0	IP6K3	33802530	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.505000	0.81655	1.991000	0.58162	0.379000	0.24179	CAC	IP6K3	-	NULL	ENSG00000161896		0.612	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K3	HGNC	protein_coding	OTTHUMT00000040203.1	102	0.96	1	T	NM_054111		33694552	33694552	-1	no_errors	ENST00000293756	ensembl	human	known	69_37n	missense	50	26.47	18	SNP	1.000	G
IPO13	9670	genome.wustl.edu	37	1	44433375	44433375	+	3'UTR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:44433375A>C	ENST00000372343.3	+	0	3575				IPO13_ENST00000372339.3_3'UTR|DPH2_ENST00000255108.3_5'Flank|DPH2_ENST00000396758.2_5'Flank|DPH2_ENST00000412950.2_5'Flank	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13						protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CATCCCATCCACCCCTTCTCT	0.557																																						dbGAP											0													49.0	47.0	47.0					1																	44433375		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.*21A>C	1.37:g.44433375A>C			D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	RNA	SNP	-	NULL	ENST00000372343.3	37	NULL	CCDS503.1	1																																																																																			IPO13	-	-	ENSG00000117408		0.557	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	HGNC	protein_coding	OTTHUMT00000022846.1	88	0.00	0	A	NM_014652		44433375	44433375	+1	no_errors	ENST00000483886	ensembl	human	known	69_37n	rna	49	22.22	14	SNP	0.003	C
IPO4	79711	genome.wustl.edu	37	14	24655586	24655586	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:24655586T>G	ENST00000354464.6	-	10	1088	c.912A>C	c.(910-912)ccA>ccC	p.P304P	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	304					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ACTGGCCTGGTGGGGGCTCAG	0.547																																						dbGAP											0													127.0	146.0	140.0					14																	24655586		1952	4153	6105	-	-	-	SO:0001819	synonymous_variant	0			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.912A>C	14.37:g.24655586T>G			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.P304	ENST00000354464.6	37	c.912	CCDS9616.1	14																																																																																			IPO4	-	superfamily_ARM-type_fold	ENSG00000196497		0.547	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	211	0.93	2	T	NM_024658		24655586	24655586	-1	no_errors	ENST00000354464	ensembl	human	known	69_37n	silent	175	16.90	36	SNP	0.000	G
IQCD	115811	genome.wustl.edu	37	12	113645596	113645596	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:113645596A>C	ENST00000416617.2	-	2	566	c.376T>G	c.(376-378)Tgg>Ggg	p.W126G	IQCD_ENST00000546692.1_Missense_Mutation_p.W126G|IQCD_ENST00000299732.2_Missense_Mutation_p.W126G			Q96DY2	IQCD_HUMAN	IQ motif containing D	126										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCTCTGAGCCACCCTTCCTCC	0.512																																						dbGAP											0													112.0	106.0	108.0					12																	113645596		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.376T>G	12.37:g.113645596A>C	ENSP00000400669:p.Trp126Gly		Q6ZSU0	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.W126G	ENST00000416617.2	37	c.376		12	.	.	.	.	.	.	.	.	.	.	A	4.245	0.044530	0.08196	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.09538	2.97;2.97;2.97	4.7	-0.34	0.12643	.	1.360500	0.04744	N	0.423295	T	0.09905	0.0243	L	0.51422	1.61	0.09310	N	1	B;B	0.12013	0.005;0.002	B;B	0.10450	0.005;0.003	T	0.40794	-0.9544	10	0.11182	T	0.66	-0.6344	5.1866	0.15187	0.389:0.2994:0.0:0.3115	.	126;126	F8VZV9;Q96DY2-2	.;.	G	126	ENSP00000299732:W126G;ENSP00000400669:W126G;ENSP00000446623:W126G	ENSP00000299732:W126G	W	-	1	0	IQCD	112129979	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	-0.829000	0.04415	-0.301000	0.08882	0.379000	0.24179	TGG	IQCD	-	NULL	ENSG00000166578		0.512	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	IQCD	HGNC	protein_coding	OTTHUMT00000405327.1	134	0.74	1	A	NM_138451		113645596	113645596	-1	no_errors	ENST00000416617	ensembl	human	known	69_37n	missense	81	14.58	14	SNP	0.000	C
IQCF3	401067	genome.wustl.edu	37	3	51863730	51863730	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:51863730T>G	ENST00000456080.1	+	7	1231		c.e7+2		IQCF3_ENST00000444293.1_Splice_Site|IQCF3_ENST00000446775.1_Splice_Site|IQCF3_ENST00000440739.2_Splice_Site|IQCF3_ENST00000437810.2_Splice_Site			P0C7M6	IQCF3_HUMAN	IQ motif containing F3											endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGGCAGAAGGTAGGTGGGGCC	0.522																																						dbGAP											0													100.0	126.0	117.0					3																	51863730		2025	4161	6186	-	-	-	SO:0001630	splice_region_variant	0			AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.66+2T>G	3.37:g.51863730T>G			B2RUV0	Splice_Site	SNP	-	e2+2	ENST00000456080.1	37	c.66+2	CCDS46837.1	3	.	.	.	.	.	.	.	.	.	.	T	13.79	2.342797	0.41498	.	.	ENSG00000229972	ENST00000456080;ENST00000437810;ENST00000446775;ENST00000440739;ENST00000444293	.	.	.	3.79	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.2208	0.37375	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQCF3	51838770	0.998000	0.40836	0.997000	0.53966	0.242000	0.25591	2.814000	0.48010	1.968000	0.57251	0.533000	0.62120	.	IQCF3	-	-	ENSG00000229972		0.522	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF3	HGNC	protein_coding	OTTHUMT00000346579.2	437	0.68	3	T	NM_001085479	Intron	51863730	51863730	+1	no_errors	ENST00000437810	ensembl	human	known	69_37n	splice_site	285	12.23	40	SNP	0.997	G
IQCK	124152	genome.wustl.edu	37	16	19746913	19746913	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:19746913A>C	ENST00000320394.6	+	5	1173				IQCK_ENST00000541926.1_Intron|IQCK_ENST00000564186.1_Intron|IQCK_ENST00000433597.2_Intron	NM_153208.1	NP_694940.1	Q8N0W5	IQCK_HUMAN	IQ motif containing K											kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GGGGTCACTTACCCAGTTCCA	0.507																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF520569	CCDS10580.1	16p12.3	2008-02-05			ENSG00000174628	ENSG00000174628			28556	protein-coding gene	gene with protein product						10493829	Standard	NM_153208		Approved	MGC35048, FLJ36575	uc002dgr.3	Q8N0W5	OTTHUMG00000131453	ENST00000320394.6:c.474+141A>C	16.37:g.19746913A>C			B2RDU0|O43327|Q8NFF4	RNA	SNP	-	NULL	ENST00000320394.6	37	NULL	CCDS10580.1	16																																																																																			IQCK	-	-	ENSG00000174628		0.507	IQCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCK	HGNC	protein_coding	OTTHUMT00000254273.2	106	0.93	1	A	NM_153208		19746913	19746913	+1	no_errors	ENST00000568387	ensembl	human	known	69_37n	rna	54	26.03	19	SNP	0.000	C
IRAK1	3654	genome.wustl.edu	37	X	153279769	153279769	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:153279769A>C	ENST00000369980.3	-	11	1470				IRAK1_ENST00000393687.2_Intron|IRAK1_ENST00000369974.2_Intron|IRAK1_ENST00000429936.2_Intron|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393682.1_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1						activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGTGGCCACACCTGCAGC	0.483																																						dbGAP											0													45.0	43.0	44.0					X																	153279769		2201	4298	6499	-	-	-	SO:0001627	intron_variant	0			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1303-40T>G	X.37:g.153279769A>C			D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	RNA	SNP	-	NULL	ENST00000369980.3	37	NULL	CCDS14740.1	X																																																																																			IRAK1	-	-	ENSG00000184216		0.483	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	43	0.00	0	A			153279769	153279769	-1	no_errors	ENST00000467236	ensembl	human	putative	69_37n	rna	27	27.03	10	SNP	0.000	C
IRAK1	3654	genome.wustl.edu	37	X	153284456	153284456	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:153284456T>G	ENST00000369980.3	-	4	677	c.510A>C	c.(508-510)ccA>ccC	p.P170P	MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000393687.2_Silent_p.P170P|IRAK1_ENST00000369974.2_Silent_p.P170P|IRAK1_ENST00000429936.2_Silent_p.P196P|IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000393682.1_Silent_p.P196P	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	170	ProST region.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGATGGCGGTGGAGGCCACA	0.587																																						dbGAP											0													51.0	52.0	52.0					X																	153284456		2199	4300	6499	-	-	-	SO:0001819	synonymous_variant	0			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.510A>C	X.37:g.153284456T>G			D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P170	ENST00000369980.3	37	c.510	CCDS14740.1	X																																																																																			IRAK1	-	NULL	ENSG00000184216		0.587	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	195	0.51	1	T			153284456	153284456	-1	no_errors	ENST00000369980	ensembl	human	known	69_37n	silent	117	18.18	26	SNP	0.000	G
IRF1	3659	genome.wustl.edu	37	5	131825243	131825243	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:131825243A>C	ENST00000245414.4	-	2	254				IRF1_ENST00000405885.2_Intron|IRF1_ENST00000463784.1_Intron	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1						apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|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)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GACCTGCCCCACCCGAGGTCA	0.552																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.5-68T>G	5.37:g.131825243A>C			Q96GG7	RNA	SNP	-	NULL	ENST00000245414.4	37	NULL	CCDS4155.1	5																																																																																			IRF1	-	-	ENSG00000125347		0.552	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	HGNC	protein_coding	OTTHUMT00000132340.1	65	0.00	0	A	NM_002198		131825243	131825243	-1	no_errors	ENST00000476613	ensembl	human	known	69_37n	rna	50	18.03	11	SNP	0.950	C
ITFG2	55846	genome.wustl.edu	37	12	2929276	2929276	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:2929276T>G	ENST00000228799.2	+	5	570	c.431T>G	c.(430-432)gTg>gGg	p.V144G	ITFG2_ENST00000542548.1_Missense_Mutation_p.V32G|ITFG2_ENST00000419778.2_5'UTR	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	144					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)			CGTGAGCTGGTGGTGGGCTAC	0.597																																						dbGAP											0													131.0	101.0	112.0					12																	2929276		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.431T>G	12.37:g.2929276T>G	ENSP00000228799:p.Val144Gly		A8K4Z5|D3DUQ2|Q6PKU5|Q96SX6	Missense_Mutation	SNP	pfam_FG-GAP,superfamily_WD40_repeat_dom	p.V144G	ENST00000228799.2	37	c.431	CCDS8513.1	12	.	.	.	.	.	.	.	.	.	.	T	13.40	2.224588	0.39300	.	.	ENSG00000111203	ENST00000228799;ENST00000542548	T;T	0.76186	-1.0;2.04	4.58	4.58	0.56647	.	0.060155	0.64402	D	0.000003	D	0.85784	0.5777	M	0.81239	2.535	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.87882	0.2678	10	0.87932	D	0	-0.0601	13.2916	0.60274	0.0:0.0:0.0:1.0	.	144	Q969R8	ITFG2_HUMAN	G	144;32	ENSP00000228799:V144G;ENSP00000437870:V32G	ENSP00000228799:V144G	V	+	2	0	ITFG2	2799537	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.832000	0.86757	1.931000	0.55961	0.459000	0.35465	GTG	ITFG2	-	superfamily_WD40_repeat_dom	ENSG00000111203		0.597	ITFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG2	HGNC	protein_coding	OTTHUMT00000253091.1	222	0.45	1	T	NM_018463		2929276	2929276	+1	no_errors	ENST00000228799	ensembl	human	known	69_37n	missense	155	11.86	21	SNP	1.000	G
ITGA10	8515	genome.wustl.edu	37	1	145537542	145537542	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:145537542A>C	ENST00000369304.3	+	20	2727	c.2552A>C	c.(2551-2553)cAc>cCc	p.H851P	ITGA10_ENST00000539363.1_Missense_Mutation_p.H708P|ITGA10_ENST00000538811.1_Missense_Mutation_p.H720P	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	851					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAAACCTCCACCTGGCCAGT	0.527																																						dbGAP											0													102.0	110.0	107.0					1																	145537542		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.2552A>C	1.37:g.145537542A>C	ENSP00000358310:p.His851Pro		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.H851P	ENST00000369304.3	37	c.2552	CCDS918.1	1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.861617	0.51482	.	.	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.46451	0.87;0.87;0.87	4.83	4.83	0.62350	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.36082	0.0954	L	0.34521	1.04	0.52099	D	0.999945	D;D;D;D	0.76494	0.997;0.98;0.999;0.997	D;P;D;D	0.75020	0.921;0.815;0.985;0.968	T	0.22103	-1.0226	10	0.34782	T	0.22	.	7.8612	0.29511	0.8158:0.0:0.0:0.1842	.	817;720;708;851	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	P	851;817;708;720	ENSP00000358310:H851P;ENSP00000439894:H708P;ENSP00000440011:H720P	ENSP00000358310:H851P	H	+	2	0	ITGA10	144248899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.144000	0.58057	2.038000	0.60285	0.459000	0.35465	CAC	ITGA10	-	pfam_Integrin_alpha-2	ENSG00000143127		0.527	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2	106	0.00	0	A	NM_003637		145537542	145537542	+1	no_errors	ENST00000369304	ensembl	human	known	69_37n	missense	146	13.02	22	SNP	1.000	C
ITGA8	8516	genome.wustl.edu	37	10	15760864	15760864	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:15760864T>G	ENST00000378076.3	-	2	597	c.244A>C	c.(244-246)Acc>Ccc	p.T82P		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	82					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GGCTGGCTGGTGTTGGCTTTG	0.592																																						dbGAP											0													97.0	85.0	89.0					10																	15760864		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.244A>C	10.37:g.15760864T>G	ENSP00000367316:p.Thr82Pro		B0YJ31|Q5VX94	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.T82P	ENST00000378076.3	37	c.244	CCDS31155.1	10	.	.	.	.	.	.	.	.	.	.	T	25.5	4.649726	0.87958	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	D	0.91740	-2.9	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	D	0.96676	0.8915	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97506	1.0063	10	0.72032	D	0.01	.	14.4977	0.67700	0.0:0.0:0.0:1.0	.	82;82	F5H818;P53708	.;ITA8_HUMAN	P	82	ENSP00000367316:T82P	ENSP00000367316:T82P	T	-	1	0	ITGA8	15800870	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.437000	0.80417	2.017000	0.59298	0.459000	0.35465	ACC	ITGA8	-	smart_Int_alpha_beta-p	ENSG00000077943		0.592	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA8	HGNC	protein_coding	OTTHUMT00000046987.1	106	0.93	1	T	NM_003638		15760864	15760864	-1	no_errors	ENST00000378076	ensembl	human	known	69_37n	missense	40	23.08	12	SNP	1.000	G
ITGB7	3695	genome.wustl.edu	37	12	53585710	53585710	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:53585710A>C	ENST00000267082.5	-	15	2480	c.2249T>G	c.(2248-2250)gTg>gGg	p.V750G	ITGB7_ENST00000550743.2_Missense_Mutation_p.V602G|ITGB7_ENST00000422257.3_Missense_Mutation_p.V750G|ITGB7_ENST00000338737.4_Missense_Mutation_p.V602G	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	750					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						ATAGATTTCCACCGAGAGCCG	0.587																																						dbGAP											0													53.0	54.0	54.0					12																	53585710		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.2249T>G	12.37:g.53585710A>C	ENSP00000267082:p.Val750Gly		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.V750G	ENST00000267082.5	37	c.2249	CCDS8849.1	12	.	.	.	.	.	.	.	.	.	.	A	24.5	4.538717	0.85917	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737	D;D;D	0.90133	-2.62;-2.62;-2.62	4.86	4.86	0.63082	Integrin beta subunit, cytoplasmic (2);	0.000000	0.38605	N	0.001632	D	0.94311	0.8172	M	0.71581	2.175	0.51012	D	0.999909	D	0.76494	0.999	D	0.72338	0.977	D	0.94812	0.7979	10	0.72032	D	0.01	.	13.7769	0.63059	1.0:0.0:0.0:0.0	.	750	P26010	ITB7_HUMAN	G	750;750;602	ENSP00000408741:V750G;ENSP00000267082:V750G;ENSP00000345501:V602G	ENSP00000267082:V750G	V	-	2	0	ITGB7	51871977	0.999000	0.42202	0.983000	0.44433	0.981000	0.71138	5.824000	0.69279	1.970000	0.57323	0.533000	0.62120	GTG	ITGB7	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_cyt,prints_Integrin_bsu	ENSG00000139626		0.587	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	HGNC	protein_coding	OTTHUMT00000405821.2	112	0.88	1	A			53585710	53585710	-1	no_errors	ENST00000267082	ensembl	human	known	69_37n	missense	77	18.95	18	SNP	1.000	C
JAG1	182	genome.wustl.edu	37	20	10627700	10627700	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:10627700A>C	ENST00000254958.5	-	14	2287	c.1772T>G	c.(1771-1773)gTg>gGg	p.V591G	JAG1_ENST00000423891.2_Missense_Mutation_p.V432G|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	591	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AATATACCGCACCCCTTCAGG	0.532									Alagille Syndrome																													dbGAP											0													146.0	130.0	136.0					20																	10627700		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1772T>G	20.37:g.10627700A>C	ENSP00000254958:p.Val591Gly		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.V591G	ENST00000254958.5	37	c.1772	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	A	21.1	4.105550	0.77096	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.86865	-2.15;-2.18	6.07	6.07	0.98685	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.054186	0.64402	D	0.000001	T	0.80539	0.4642	N	0.14661	0.345	0.80722	D	1	P	0.52842	0.956	P	0.45660	0.489	T	0.79871	-0.1620	10	0.23891	T	0.37	.	16.6288	0.85011	1.0:0.0:0.0:0.0	.	591	P78504	JAG1_HUMAN	G	591;432	ENSP00000254958:V591G;ENSP00000389519:V432G	ENSP00000254958:V591G	V	-	2	0	JAG1	10575700	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.135000	0.77276	2.326000	0.78906	0.533000	0.62120	GTG	JAG1	-	smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000101384		0.532	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		152	0.00	0	A	NM_000214		10627700	10627700	-1	no_errors	ENST00000254958	ensembl	human	known	69_37n	missense	125	16.56	25	SNP	1.000	C
JAKMIP1	152789	genome.wustl.edu	37	4	6083439	6083439	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:6083439A>C	ENST00000282924.5	-	6	1483	c.998T>G	c.(997-999)gTg>gGg	p.V333G	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.V333G|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.V333G|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.V168G|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.V168G	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	333	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTTCTTCTCCACCAGGGGCTT	0.527																																						dbGAP											0													124.0	119.0	121.0					4																	6083439		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.998T>G	4.37:g.6083439A>C	ENSP00000282924:p.Val333Gly		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	NULL	p.V333G	ENST00000282924.5	37	c.998	CCDS3385.1	4	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296900	0.81025	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.35048	1.77;1.36;1.76;1.76;1.33	4.41	4.41	0.53225	.	0.000000	0.56097	D	0.000026	T	0.45196	0.1330	L	0.56769	1.78	0.80722	D	1	P;P;P;P;P	0.52061	0.879;0.95;0.718;0.718;0.95	B;P;B;B;P	0.50708	0.26;0.648;0.346;0.346;0.648	T	0.50118	-0.8865	10	0.87932	D	0	.	13.1628	0.59554	1.0:0.0:0.0:0.0	.	168;333;168;333;333	B4DHZ8;F2Z2K5;Q96N16-5;Q96N16-2;Q96N16	.;.;.;.;JKIP1_HUMAN	G	333;168;333;333;225;333;333;168	ENSP00000386711:V333G;ENSP00000387042:V168G;ENSP00000282924:V333G;ENSP00000386925:V333G;ENSP00000386745:V168G	ENSP00000282924:V333G	V	-	2	0	JAKMIP1	6134340	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	8.595000	0.90840	1.775000	0.52247	0.454000	0.30748	GTG	JAKMIP1	-	NULL	ENSG00000152969		0.527	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000246816.2	150	0.65	1	A	NM_144720		6083439	6083439	-1	no_errors	ENST00000409021	ensembl	human	known	69_37n	missense	210	11.62	28	SNP	1.000	C
JAZF1	221895	genome.wustl.edu	37	7	28220124	28220124	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:28220124T>G	ENST00000283928.5	-	1	238	c.73A>C	c.(73-75)Acc>Ccc	p.T25P	JAZF1-AS1_ENST00000436758.1_RNA|JAZF1-AS1_ENST00000455963.1_RNA	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	25					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transcription corepressor activity (GO:0003714)		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TCGGCCAGGGTGGGGAAGTGG	0.672			T	SUZ12	endometrial stromal tumours																																	dbGAP		Dom	yes		7	7p15.2-p15.1	221895	juxtaposed with another zinc finger gene 1		M	0													42.0	42.0	42.0					7																	28220124		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047229	CCDS5416.1	7p15.2-p15.1	2010-04-14			ENSG00000153814	ENSG00000153814		"""Zinc fingers, C2H2-type"""	28917	protein-coding gene	gene with protein product		606246				8401585	Standard	XM_006715656		Approved	TIP27, DKFZp761K2222, ZNF802	uc003szn.3	Q86VZ6	OTTHUMG00000128545	ENST00000283928.5:c.73A>C	7.37:g.28220124T>G	ENSP00000283928:p.Thr25Pro		A4D195|Q8N3L7	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.T25P	ENST00000283928.5	37	c.73	CCDS5416.1	7	.	.	.	.	.	.	.	.	.	.	T	14.70	2.613952	0.46631	.	.	ENSG00000153814	ENST00000283928	D	0.86097	-2.07	2.04	0.863	0.19062	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.095309	0.43919	U	0.000516	T	0.76485	0.3994	L	0.43923	1.385	0.35229	D	0.776756	B	0.02656	0.0	B	0.01281	0.0	T	0.71800	-0.4483	10	0.72032	D	0.01	-7.9539	7.0995	0.25330	0.0:0.1199:0.0:0.8801	.	25	Q86VZ6	JAZF1_HUMAN	P	25	ENSP00000283928:T25P	ENSP00000283928:T25P	T	-	1	0	JAZF1	28186649	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.025000	0.57225	0.248000	0.21435	0.378000	0.23410	ACC	JAZF1	-	smart_Znf_C2H2-like	ENSG00000153814		0.672	JAZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAZF1	HGNC	protein_coding	OTTHUMT00000250382.2	38	0.00	0	T	NM_175061		28220124	28220124	-1	no_errors	ENST00000283928	ensembl	human	known	69_37n	missense	36	27.45	14	SNP	1.000	G
KRT17	3872	genome.wustl.edu	37	17	39777981	39777981	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:39777981A>C	ENST00000311208.8	-	4	765	c.698T>G	c.(697-699)gTg>gGg	p.V233G	JUP_ENST00000540235.1_Missense_Mutation_p.V392G	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	233	Linker 12.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CTCACCACCCACCTGGCCTCG	0.582																																					Pancreas(92;1242 2086 39193 50508)	dbGAP											0													109.0	88.0	95.0					17																	39777981		2203	4300	6503	-	-	-	SO:0001583	missense	0			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.698T>G	17.37:g.39777981A>C	ENSP00000308452:p.Val233Gly		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin	p.V392G	ENST00000311208.8	37	c.1175	CCDS11402.1	17	.	.	.	.	.	.	.	.	.	.	A	15.75	2.926336	0.52759	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.89746	-2.56;-2.56	3.97	3.97	0.46021	Prefoldin (1);Filament (1);	0.000000	0.42420	D	0.000706	D	0.86900	0.6044	M	0.70787	2.145	0.42130	D	0.991462	B	0.14438	0.01	B	0.21151	0.033	D	0.84842	0.0808	10	0.51188	T	0.08	.	9.6661	0.39986	0.825:0.175:0.0:0.0	.	233	Q04695	K1C17_HUMAN	G	233;392	ENSP00000308452:V233G;ENSP00000441751:V392G	ENSP00000441751:V392G	V	-	2	0	JUP;KRT17	37031507	0.070000	0.21116	1.000000	0.80357	0.984000	0.73092	1.934000	0.40163	1.799000	0.52666	0.533000	0.62120	GTG	JUP	-	pfam_F,superfamily_Prefoldin	ENSG00000173801		0.582	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257460.1	180	0.00	0	A	NM_000422		39777981	39777981	-1	no_errors	ENST00000540235	ensembl	human	known	69_37n	missense	107	15.75	20	SNP	1.000	C
KAT6B	23522	genome.wustl.edu	37	10	76735297	76735297	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:76735297T>G	ENST00000287239.4	+	8	1691	c.1202T>G	c.(1201-1203)gTt>gGt	p.V401G	KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372724.1_Intron|KAT6B_ENST00000372711.1_Missense_Mutation_p.V401G	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	401	Negatively regulates HAT activity.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AGATTGGCTGTTACAGACCCC	0.512																																						dbGAP											0													116.0	100.0	105.0					10																	76735297		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.1202T>G	10.37:g.76735297T>G	ENSP00000287239:p.Val401Gly		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V401G	ENST00000287239.4	37	c.1202	CCDS7345.1	10	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295845	0.23564	.	.	ENSG00000156650	ENST00000287239;ENST00000372711	T;T	0.77229	-1.08;-1.07	5.73	4.58	0.56647	.	0.000000	0.42294	D	0.000740	T	0.69691	0.3139	N	0.14661	0.345	0.50632	D	0.999889	D;D	0.58268	0.982;0.969	P;B	0.52823	0.71;0.436	T	0.67027	-0.5774	9	.	.	.	-0.955	10.8833	0.46951	0.1403:0.0:0.0:0.8597	.	401;401	Q8WYB5-2;Q8WYB5	.;KAT6B_HUMAN	G	401	ENSP00000287239:V401G;ENSP00000361796:V401G	.	V	+	2	0	KAT6B	76405303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.230000	0.78097	0.981000	0.38548	0.533000	0.62120	GTT	KAT6B	-	NULL	ENSG00000156650		0.512	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6B	HGNC	protein_coding	OTTHUMT00000048771.1	177	0.00	0	T	NM_012330		76735297	76735297	+1	no_errors	ENST00000287239	ensembl	human	known	69_37n	missense	123	16.33	24	SNP	1.000	G
KATNAL2	83473	genome.wustl.edu	37	18	44589415	44589415	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:44589415A>C	ENST00000245121.5	+	6	600	c.406A>C	c.(406-408)Acc>Ccc	p.T136P	KATNAL2_ENST00000356157.7_Missense_Mutation_p.T208P|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2			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						TGCCTTGAACACCTTCGACCA	0.448																																						dbGAP											0													145.0	128.0	134.0					18																	44589415		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		ENST00000245121.5:c.406A>C	18.37:g.44589415A>C	ENSP00000245121:p.Thr136Pro			Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.T136P	ENST00000245121.5	37	c.406	CCDS32828.1	18	.	.	.	.	.	.	.	.	.	.	A	10.10	1.258777	0.23051	.	.	ENSG00000167216	ENST00000356157;ENST00000245121	D;D	0.93712	-3.27;-3.27	6.01	4.85	0.62838	.	0.325607	0.35378	N	0.003246	D	0.85478	0.5706	N	0.14661	0.345	0.31263	N	0.692686	B	0.29232	0.238	B	0.27715	0.082	T	0.83332	-0.0012	10	0.30078	T	0.28	-13.6366	11.6185	0.51104	0.9299:0.0:0.0701:0.0	.	208	Q8IYT4	KATL2_HUMAN	P	208;136	ENSP00000348478:T208P;ENSP00000245121:T136P	ENSP00000245121:T136P	T	+	1	0	KATNAL2	42843413	1.000000	0.71417	0.998000	0.56505	0.114000	0.19823	3.173000	0.50839	2.307000	0.77673	0.528000	0.53228	ACC	KATNAL2	-	NULL	ENSG00000167216		0.448	KATNAL2-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	KATNAL2	HGNC	protein_coding	OTTHUMT00000446138.2	139	0.00	0	A	NM_031303		44589415	44589415	+1	no_errors	ENST00000245121	ensembl	human	known	69_37n	missense	105	16.00	20	SNP	0.999	C
KLHL41	10324	genome.wustl.edu	37	2	170367116	170367116	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:170367116T>G	ENST00000284669.1	+	1	905	c.828T>G	c.(826-828)ggT>ggG	p.G276G	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	276					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											CTGGGGCTGGTGAGGTGAATG	0.443																																						dbGAP											0													130.0	137.0	135.0					2																	170367116		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.828T>G	2.37:g.170367116T>G			Q53R42	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G276	ENST00000284669.1	37	c.828	CCDS2234.1	2																																																																																			KBTBD10	-	pirsf_Kelch-like_gigaxonin	ENSG00000239474		0.443	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD10	HGNC	protein_coding	OTTHUMT00000255263.1	306	0.33	1	T	NM_006063		170367116	170367116	+1	no_errors	ENST00000284669	ensembl	human	known	69_37n	silent	242	13.21	37	SNP	0.736	G
KCNAB2	8514	genome.wustl.edu	37	1	6155660	6155660	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:6155660A>C	ENST00000164247.1	+	13	1344	c.780A>C	c.(778-780)ccA>ccC	p.P260P	KCNAB2_ENST00000378092.1_Silent_p.P246P|KCNAB2_ENST00000378097.1_Silent_p.P260P|KCNAB2_ENST00000458166.2_Silent_p.P193P|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000352527.1_Silent_p.P246P|KCNAB2_ENST00000602612.1_Silent_p.P260P|KCNAB2_ENST00000341524.1_Silent_p.P260P|KCNAB2_ENST00000378083.3_Silent_p.P308P|KCNAB2_ENST00000378111.1_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	260					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGCATCCCACCCTACTCAA	0.602																																						dbGAP											0													98.0	97.0	97.0					1																	6155660		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.780A>C	1.37:g.6155660A>C			A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.P308	ENST00000164247.1	37	c.924	CCDS55.1	1																																																																																			KCNAB2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	ENSG00000069424		0.602	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	KCNAB2	HGNC	protein_coding	OTTHUMT00000002114.3	55	0.00	0	A	NM_172130		6155660	6155660	+1	no_errors	ENST00000378083	ensembl	human	known	69_37n	silent	81	17.35	17	SNP	0.797	C
KCNAB3	9196	genome.wustl.edu	37	17	7826790	7826790	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:7826790T>G	ENST00000303790.2	-	13	1120	c.1121A>C	c.(1120-1122)cAc>cCc	p.H374P		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	374					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CGCGCCCAGGTGTTCTATCAA	0.602																																						dbGAP											0													29.0	25.0	27.0					17																	7826790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"""Potassium channels"", ""Aldo-keto reductases"""	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.1121A>C	17.37:g.7826790T>G	ENSP00000302719:p.His374Pro		Q4VAW0	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,prints_K_chnl_volt-dep_bsu_KCNAB1,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.H374P	ENST00000303790.2	37	c.1121	CCDS11124.1	17	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523406	0.64747	.	.	ENSG00000170049	ENST00000303790	T	0.41758	0.99	5.4	5.4	0.78164	NADP-dependent oxidoreductase domain (3);	0.097415	0.64402	N	0.000003	T	0.32102	0.0818	N	0.12182	0.205	0.53688	D	0.999975	B	0.19445	0.036	B	0.30495	0.116	T	0.20907	-1.0261	10	0.87932	D	0	.	15.7594	0.78067	0.0:0.0:0.0:1.0	.	374	O43448	KCAB3_HUMAN	P	374	ENSP00000302719:H374P	ENSP00000302719:H374P	H	-	2	0	KCNAB3	7767515	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.997000	0.88414	2.185000	0.69588	0.454000	0.30748	CAC	KCNAB3	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB3,prints_K_chnl_volt-dep_bsu_KCNAB1,tigrfam_K_chnl_volt-dep_bsu_KCNAB	ENSG00000170049		0.602	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNAB3	HGNC	protein_coding	OTTHUMT00000226974.1	57	0.00	0	T	NM_004732		7826790	7826790	-1	no_errors	ENST00000303790	ensembl	human	known	69_37n	missense	29	29.55	13	SNP	1.000	G
KCNF1	3754	genome.wustl.edu	37	2	11053760	11053760	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:11053760A>C	ENST00000295082.1	+	1	1698	c.1208A>C	c.(1207-1209)cAc>cCc	p.H403P		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	403					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)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CTGCCCATCCACCCCATCATC	0.597																																						dbGAP											0													147.0	111.0	123.0					2																	11053760		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1208A>C	2.37:g.11053760A>C	ENSP00000295082:p.His403Pro		O43527|Q585L3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6	p.H403P	ENST00000295082.1	37	c.1208	CCDS1676.1	2	.	.	.	.	.	.	.	.	.	.	A	12.39	1.922847	0.33908	.	.	ENSG00000162975	ENST00000295082	D	0.97256	-4.31	5.42	5.42	0.78866	.	0.095683	0.64402	D	0.000001	D	0.87799	0.6268	N	0.00760	-1.21	0.58432	D	0.999998	B	0.21225	0.053	B	0.25987	0.065	D	0.85608	0.1256	10	0.02654	T	1	.	15.7745	0.78204	1.0:0.0:0.0:0.0	.	403	Q9H3M0	KCNF1_HUMAN	P	403	ENSP00000295082:H403P	ENSP00000295082:H403P	H	+	2	0	KCNF1	10971211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.174000	0.68829	0.533000	0.62120	CAC	KCNF1	-	pfam_Ion_trans_2,pfam_PKD1_2_channel,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	ENSG00000162975		0.597	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNF1	HGNC	protein_coding	OTTHUMT00000239265.1	100	0.00	0	A	NM_002236		11053760	11053760	+1	no_errors	ENST00000295082	ensembl	human	known	69_37n	missense	113	16.30	22	SNP	1.000	C
KCNJ4	3761	genome.wustl.edu	37	22	38823993	38823993	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:38823993T>G	ENST00000303592.3	-	2	403	c.145A>C	c.(145-147)Acc>Ccc	p.T49P	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	49					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TCCACGCAGGTGGTGAAGATG	0.577																																						dbGAP											0													274.0	192.0	219.0					22																	38823993		2203	4300	6503	-	-	-	SO:0001583	missense	0			U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.145A>C	22.37:g.38823993T>G	ENSP00000306497:p.Thr49Pro		Q14D44	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.3	p.T49P	ENST00000303592.3	37	c.145	CCDS13971.1	22	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954774	0.73902	.	.	ENSG00000168135	ENST00000303592	D	0.96427	-4.01	4.86	4.86	0.63082	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.98751	0.9580	H	0.97158	3.95	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	D	0.99683	1.0999	10	0.87932	D	0	.	14.8144	0.70020	0.0:0.0:0.0:1.0	.	49	P48050	IRK4_HUMAN	P	49	ENSP00000306497:T49P	ENSP00000306497:T49P	T	-	1	0	KCNJ4	37153939	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.005000	0.88553	1.966000	0.57179	0.454000	0.30748	ACC	KCNJ4	-	pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir	ENSG00000168135		0.577	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ4	HGNC	protein_coding	OTTHUMT00000321447.1	108	0.89	1	T	NM_004981		38823993	38823993	-1	no_errors	ENST00000303592	ensembl	human	known	69_37n	missense	92	20.69	24	SNP	1.000	G
KCNK16	83795	genome.wustl.edu	37	6	39283146	39283146	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:39283146T>G	ENST00000373229.5	-	6	816				KCNK17_ENST00000373231.4_5'Flank|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000425054.2_Silent_p.T241T|KCNK16_ENST00000373227.4_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TCCCATGGGGTGTTTGGAAAG	0.567																																						dbGAP											0													85.0	86.0	86.0					6																	39283146		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.803-241A>C	6.37:g.39283146T>G			B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Silent	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl	p.T241	ENST00000373229.5	37	c.723	CCDS4843.1	6																																																																																			KCNK16	-	NULL	ENSG00000095981		0.567	KCNK16-001	KNOWN	basic|CCDS	protein_coding	KCNK16	HGNC	protein_coding	OTTHUMT00000040452.2	173	0.00	0	T	NM_032115		39283146	39283146	-1	no_errors	ENST00000425054	ensembl	human	known	69_37n	silent	147	11.45	19	SNP	0.000	G
KDM4A	9682	genome.wustl.edu	37	1	44134925	44134925	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:44134925A>C	ENST00000372396.3	+	10	1452	c.1318A>C	c.(1318-1320)Acc>Ccc	p.T440P		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	440					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						TGTGAGGCCCACCCATAGCTC	0.537																																						dbGAP											0													146.0	137.0	140.0					1																	44134925		2203	4300	6503	-	-	-	SO:0001583	missense	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.1318A>C	1.37:g.44134925A>C	ENSP00000361473:p.Thr440Pro		Q5VVB1	Missense_Mutation	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.T440P	ENST00000372396.3	37	c.1318	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	A	14.11	2.437766	0.43326	.	.	ENSG00000066135	ENST00000372396	T	0.15603	2.41	5.23	4.03	0.46877	.	1.021520	0.07726	N	0.944516	T	0.13114	0.0318	L	0.45228	1.405	0.30587	N	0.761937	P;P	0.44578	0.736;0.838	B;B	0.35413	0.146;0.202	T	0.07635	-1.0762	10	0.31617	T	0.26	-22.1447	6.1101	0.20096	0.7757:0.0:0.0798:0.1445	.	440;440	B4DT38;O75164	.;KDM4A_HUMAN	P	440	ENSP00000361473:T440P	ENSP00000361473:T440P	T	+	1	0	KDM4A	43907512	0.830000	0.29337	1.000000	0.80357	0.997000	0.91878	1.513000	0.35823	2.099000	0.63709	0.459000	0.35465	ACC	KDM4A	-	NULL	ENSG00000066135		0.537	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	117	0.00	0	A	NM_014663		44134925	44134925	+1	no_errors	ENST00000372396	ensembl	human	known	69_37n	missense	85	11.46	11	SNP	1.000	C
KDM5C	8242	genome.wustl.edu	37	X	53247612	53247612	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:53247612A>C	ENST00000375401.3	-	3	761				KDM5C_ENST00000404049.3_Intron|KDM5C_ENST00000375379.3_Intron|KDM5C_ENST00000375383.3_Intron|KDM5C_ENST00000452825.3_Intron	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C						histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GAGGCTGGCCACCCCCTCCCA	0.522			"""N, F, S"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													59.0	53.0	55.0					X																	53247612		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.229-32T>G	X.37:g.53247612A>C			B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	RNA	SNP	-	NULL	ENST00000375401.3	37	NULL	CCDS14351.1	X																																																																																			KDM5C	-	-	ENSG00000126012		0.522	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	101	0.00	0	A	NM_004187		53247612	53247612	-1	no_errors	ENST00000495519	ensembl	human	known	69_37n	rna	146	15.91	28	SNP	0.650	C
KIAA0226L	80183	genome.wustl.edu	37	13	46946338	46946338	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:46946338T>G	ENST00000429979.1	-	3	877	c.273A>C	c.(271-273)tcA>tcC	p.S91S	KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000389908.3_Silent_p.S91S|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378784.4_Silent_p.S24S|KIAA0226L_ENST00000378787.3_Silent_p.S91S|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378781.3_Silent_p.S91S|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000378797.2_Silent_p.S91S	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	91	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GGCACGAAGGTGAAGGGCCTG	0.577																																						dbGAP											0													111.0	103.0	106.0					13																	46946338		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.273A>C	13.37:g.46946338T>G			A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Silent	SNP	NULL	p.S91	ENST00000429979.1	37	c.273	CCDS31970.2	13																																																																																			KIAA0226L	-	NULL	ENSG00000102445		0.577	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	155	0.64	1	T	NM_025113		46946338	46946338	-1	no_errors	ENST00000389908	ensembl	human	known	69_37n	silent	121	15.28	22	SNP	0.000	G
KIAA0247	9766	genome.wustl.edu	37	14	70125403	70125403	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:70125403A>C	ENST00000342745.4	+	2	407	c.94A>C	c.(94-96)Acc>Ccc	p.T32P		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	32						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GATCCTTTGCACCCTGCTTGG	0.507																																						dbGAP											0													243.0	186.0	205.0					14																	70125403		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.94A>C	14.37:g.70125403A>C	ENSP00000344424:p.Thr32Pro			Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.T32P	ENST00000342745.4	37	c.94	CCDS9796.1	14	.	.	.	.	.	.	.	.	.	.	A	12.67	2.009039	0.35415	.	.	ENSG00000100647	ENST00000342745	T	0.65916	-0.18	6.06	2.28	0.28536	.	0.617130	0.17356	N	0.177220	T	0.39860	0.1094	N	0.14661	0.345	0.21184	N	0.999766	B	0.32968	0.392	B	0.34991	0.193	T	0.20107	-1.0285	10	0.35671	T	0.21	-5.9848	4.4475	0.11604	0.6983:0.0:0.1577:0.144	.	32	Q92537	K0247_HUMAN	P	32	ENSP00000344424:T32P	ENSP00000344424:T32P	T	+	1	0	KIAA0247	69195156	0.953000	0.32496	0.996000	0.52242	0.757000	0.42996	1.294000	0.33365	0.139000	0.18822	-0.341000	0.08007	ACC	KIAA0247	-	NULL	ENSG00000100647		0.507	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0247	HGNC	protein_coding	OTTHUMT00000412453.1	251	0.39	1	A	NM_014734		70125403	70125403	+1	no_errors	ENST00000342745	ensembl	human	known	69_37n	missense	192	13.39	30	SNP	1.000	C
KIAA0754	643314	genome.wustl.edu	37	1	39877866	39877866	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:39877866T>G	ENST00000530275.1	+	1	1716	c.1521T>G	c.(1519-1521)ggT>ggG	p.G507G	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	507										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGGAATGGTGAGGAGTGCA	0.423																																						dbGAP											0													209.0	200.0	203.0					1																	39877866		1913	4143	6056	-	-	-	SO:0001819	synonymous_variant	0					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1521T>G	1.37:g.39877866T>G			E9PMC2|Q6ZSB2	Silent	SNP	NULL	p.G507	ENST00000530275.1	37	c.1521		1																																																																																			KIAA0754	-	NULL	ENSG00000255103		0.423	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	138	0.72	1	T	NM_015038		39877866	39877866	+1	no_errors	ENST00000530275	ensembl	human	known	69_37n	silent	126	13.70	20	SNP	0.002	G
ZSWIM8	23053	genome.wustl.edu	37	10	75559187	75559187	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:75559187A>C	ENST00000605216.1	+	21	4806	c.4589A>C	c.(4588-4590)cAc>cCc	p.H1530P	ZSWIM8_ENST00000398706.2_Missense_Mutation_p.H1535P|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.H1535P|ZSWIM8_ENST00000604524.1_Intron|ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.H1497P|RP11-574K11.31_ENST00000603027.1_Intron	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	1530	Pro-rich.						zinc ion binding (GO:0008270)										CACCCTGCCCACCCCATGCCT	0.642																																						dbGAP											0													43.0	47.0	46.0					10																	75559187		2089	4195	6284	-	-	-	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.4589A>C	10.37:g.75559187A>C	ENSP00000474748:p.His1530Pro		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	pfscan_Znf_SWIM	p.H1535P	ENST00000605216.1	37	c.4604		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.16|16.16	3.045750|3.045750	0.55110|0.55110	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000412198	T|.	0.45668|.	0.89|.	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	0.452187|.	0.20893|.	U|.	0.083792|.	T|T	0.60431|0.60431	0.2268|0.2268	L|L	0.53249|0.53249	1.67|1.67	0.39526|0.39526	D|D	0.96858|0.96858	D;D;D|.	0.54207|.	0.965;0.965;0.965|.	P;P;P|.	0.45099|.	0.469;0.461;0.469|.	T|T	0.61008|0.61008	-0.7149|-0.7149	10|5	0.56958|.	D|.	0.05|.	-6.3952|-6.3952	9.8658|9.8658	0.41142|0.41142	0.8476:0.0:0.0:0.1524|0.8476:0.0:0.0:0.1524	.|.	1530;1542;1535|.	A7E2V4;A7E2V4-3;A7E2V4-4|.	K0913_HUMAN;.;.|.	P|P	1535|805	ENSP00000381693:H1535P|.	ENSP00000381693:H1535P|.	H|T	+|+	2|1	0|0	KIAA0913|KIAA0913	75229193|75229193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.645000|6.645000	0.74343|0.74343	2.025000|2.025000	0.59659|0.59659	0.459000|0.459000	0.35465|0.35465	CAC|ACC	KIAA0913	-	NULL	ENSG00000214655		0.642	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	KIAA0913	HGNC	protein_coding	OTTHUMT00000468545.1	89	0.00	0	A	NM_001242487		75559187	75559187	+1	no_errors	ENST00000398706	ensembl	human	known	69_37n	missense	120	20.00	30	SNP	1.000	C
ICE1	23379	genome.wustl.edu	37	5	5464643	5464643	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:5464643A>C	ENST00000296564.7	+	13	5418	c.5196A>C	c.(5194-5196)ccA>ccC	p.P1732P		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1732	Pro-rich.				positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GCCGACTCCCACCCTGTGCAT	0.607																																						dbGAP											0													39.0	40.0	39.0					5																	5464643		2064	4208	6272	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000296564.7:c.5196A>C	5.37:g.5464643A>C			Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	superfamily_Vitellinogen_superhlx	p.P1732	ENST00000296564.7	37	c.5196	CCDS47187.1	5																																																																																			KIAA0947	-	NULL	ENSG00000164151		0.607	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	59	0.00	0	A			5464643	5464643	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	silent	34	19.05	8	SNP	0.095	C
KIAA1109	84162	genome.wustl.edu	37	4	123156060	123156060	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:123156060A>C	ENST00000264501.4	+	27	3829	c.3456A>C	c.(3454-3456)acA>acC	p.T1152T	KIAA1109_ENST00000388738.3_Silent_p.T1152T|KIAA1109_ENST00000455637.1_Silent_p.T1152T|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1152					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAGAGTTGACACCTTCCAGTA	0.418																																						dbGAP											0													125.0	123.0	124.0					4																	123156060		1885	4113	5998	-	-	-	SO:0001819	synonymous_variant	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.3456A>C	4.37:g.123156060A>C			Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_MMADHC	p.T984P	ENST00000264501.4	37	c.2950	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	A	9.061	0.994454	0.19043	.	.	ENSG00000138688	ENST00000424425	T	0.48201	0.82	5.28	-0.855	0.10700	.	24.286100	0.00890	N	0.002238	T	0.47002	0.1422	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34304	-0.9834	7	0.46703	T	0.11	.	5.3342	0.15949	0.3326:0.4829:0.0675:0.117	.	.	.	.	P	984	ENSP00000398039:T984P	ENSP00000398039:T984P	T	+	1	0	KIAA1109	123375510	0.975000	0.34042	0.999000	0.59377	0.981000	0.71138	0.154000	0.16343	-0.019000	0.14055	-0.460000	0.05396	ACC	KIAA1109	-	NULL	ENSG00000138688		0.418	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	217	0.91	2	A	NM_020797		123156060	123156060	+1	no_start_codon:pseudogene	ENST00000424425	ensembl	human	novel	69_37n	missense	183	14.49	31	SNP	0.966	C
CEMIP	57214	genome.wustl.edu	37	15	81180038	81180038	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:81180038delC	ENST00000394685.3	+	8	1220	c.801delC	c.(799-801)cacfs	p.H267fs	KIAA1199_ENST00000356249.5_Frame_Shift_Del_p.H267fs|KIAA1199_ENST00000220244.3_Frame_Shift_Del_p.H267fs			Q8WUJ3	CEMIP_HUMAN		267					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTTTCAGACACCCTTGGAGTT	0.443																																						dbGAP											0										31,4233		15,1,2116	63.0	62.0	62.0			5.8	1.0	15		63	105,8149		47,11,4069	no	frameshift	KIAA1199	NM_018689.1		62,12,6185	A1A1,A1R,RR		1.2721,0.727,1.0864			81180038	136,12382	2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000394685.3:c.801delC	15.37:g.81180038delC	ENSP00000378177:p.His267fs		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Frame_Shift_Del	DEL	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.P268fs	ENST00000394685.3	37	c.801	CCDS10315.1	15																																																																																			KIAA1199	-	NULL	ENSG00000103888		0.443	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1	98	0.00	0	C			81180038	81180038	+1	no_errors	ENST00000220244	ensembl	human	known	69_37n	frame_shift_del	75	39.23	51	DEL	1.000	-
KIAA1217	56243	genome.wustl.edu	37	10	24790378	24790378	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:24790378A>C	ENST00000376454.3	+	9	1935	c.1905A>C	c.(1903-1905)ccA>ccC	p.P635P	KIAA1217_ENST00000307544.6_Silent_p.P318P|KIAA1217_ENST00000376452.3_Silent_p.P600P|KIAA1217_ENST00000458595.1_Silent_p.P600P|KIAA1217_ENST00000396445.1_Silent_p.P318P|KIAA1217_ENST00000396446.1_Silent_p.P318P|KIAA1217_ENST00000430453.2_Silent_p.P521P|KIAA1217_ENST00000376462.1_Silent_p.P555P|KIAA1217_ENST00000376451.2_Silent_p.P318P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	635					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						GCCAGCCTCCACCTGTGGGCA	0.597																																						dbGAP											0													72.0	62.0	65.0					10																	24790378		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1905A>C	10.37:g.24790378A>C			A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	pfam_AIP3_C	p.P635	ENST00000376454.3	37	c.1905	CCDS31165.1	10																																																																																			KIAA1217	-	pfam_AIP3_C	ENSG00000120549		0.597	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1217	HGNC	protein_coding	OTTHUMT00000047223.2	57	0.00	0	A	NM_019590		24790378	24790378	+1	no_errors	ENST00000376454	ensembl	human	known	69_37n	silent	46	25.81	16	SNP	0.004	C
KIAA1324	57535	genome.wustl.edu	37	1	109735438	109735438	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:109735438A>C	ENST00000369939.3	+	14	2072	c.1889A>C	c.(1888-1890)cAc>cCc	p.H630P	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.H543P	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	630					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGAAAGCCCACCAGCCTTAT	0.542																																						dbGAP											0													135.0	128.0	131.0					1																	109735438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1889A>C	1.37:g.109735438A>C	ENSP00000358955:p.His630Pro		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt	p.H630P	ENST00000369939.3	37	c.1889	CCDS794.1	1	.	.	.	.	.	.	.	.	.	.	A	14.25	2.477969	0.44044	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.62498	0.02;0.02;0.02	4.81	4.81	0.61882	Growth factor, receptor (1);	0.206543	0.49916	D	0.000126	T	0.58278	0.2111	L	0.46157	1.445	0.44295	D	0.997166	D;D;D;D	0.69078	0.997;0.993;0.997;0.997	P;P;P;P	0.61592	0.891;0.852;0.891;0.891	T	0.55121	-0.8190	10	0.18276	T	0.48	-10.95	13.7686	0.63010	1.0:0.0:0.0:0.0	.	630;543;630;630	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	P	630;580;543	ENSP00000358955:H630P;ENSP00000393964:H580P;ENSP00000434595:H543P	ENSP00000358955:H630P	H	+	2	0	KIAA1324	109536961	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.051000	0.57412	2.149000	0.67028	0.528000	0.53228	CAC	KIAA1324	-	superfamily_Growth_fac_rcpt	ENSG00000116299		0.542	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1324	HGNC	protein_coding	OTTHUMT00000032389.2	124	0.00	0	A	NM_020775		109735438	109735438	+1	no_errors	ENST00000369939	ensembl	human	known	69_37n	missense	119	13.77	19	SNP	1.000	C
KIAA1462	57608	genome.wustl.edu	37	10	30317151	30317151	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:30317151A>C	ENST00000375377.1	-	3	2027	c.1926T>G	c.(1924-1926)ggT>ggG	p.G642G		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	642					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCGTTCTCCCACCCATGCTTC	0.498																																						dbGAP											0													114.0	110.0	111.0					10																	30317151		1948	4143	6091	-	-	-	SO:0001819	synonymous_variant	0			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1926T>G	10.37:g.30317151A>C			Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Silent	SNP	NULL	p.G642	ENST00000375377.1	37	c.1926	CCDS41500.1	10																																																																																			KIAA1462	-	NULL	ENSG00000165757		0.498	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	255	0.78	2	A	NM_020848		30317151	30317151	-1	no_errors	ENST00000375377	ensembl	human	known	69_37n	silent	200	15.13	36	SNP	0.000	C
KIAA1549	57670	genome.wustl.edu	37	7	138603681	138603681	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:138603681T>G	ENST00000422774.1	-	2	739	c.691A>C	c.(691-693)Acc>Ccc	p.T231P	KIAA1549_ENST00000440172.1_Missense_Mutation_p.T231P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.T181P			Q9HCM3	K1549_HUMAN	KIAA1549	231						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GACCGAAAGGTGTGGAAATGA	0.488			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	dbGAP		Dom	yes		7	7q34	57670	KIAA1549		O	0													135.0	145.0	142.0					7																	138603681		2114	4217	6331	-	-	-	SO:0001583	missense	0				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.691A>C	7.37:g.138603681T>G	ENSP00000416040:p.Thr231Pro		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	NULL	p.T231P	ENST00000422774.1	37	c.691	CCDS56513.1	7	.	.	.	.	.	.	.	.	.	.	T	12.08	1.829654	0.32329	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.33654	1.4;1.4;1.4	4.68	-3.19	0.05171	.	1.181470	0.06249	N	0.691734	T	0.19604	0.0471	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.22977	-1.0201	10	0.38643	T	0.18	.	6.5942	0.22664	0.0:0.1987:0.2957:0.5056	.	231;231	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	P	231;181;231	ENSP00000406661:T231P;ENSP00000242365:T181P;ENSP00000416040:T231P	ENSP00000242365:T181P	T	-	1	0	KIAA1549	138254221	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-0.597000	0.05713	-0.862000	0.04089	-0.337000	0.08149	ACC	KIAA1549	-	NULL	ENSG00000122778		0.488	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1549	HGNC	protein_coding	OTTHUMT00000348092.1	235	0.00	0	T			138603681	138603681	-1	no_errors	ENST00000422774	ensembl	human	known	69_37n	missense	158	11.17	20	SNP	0.000	G
KIAA2018	205717	genome.wustl.edu	37	3	113378738	113378738	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:113378738T>G	ENST00000478658.1	-	5	1808	c.1791A>C	c.(1789-1791)ccA>ccC	p.P597P	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.P597P			Q68DE3	K2018_HUMAN	KIAA2018	597						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AACCAGGAGGTGGAGCAGGGA	0.453																																						dbGAP											0													158.0	157.0	157.0					3																	113378738		1950	4133	6083	-	-	-	SO:0001819	synonymous_variant	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1791A>C	3.37:g.113378738T>G			Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.P597	ENST00000478658.1	37	c.1791	CCDS43133.1	3																																																																																			KIAA2018	-	NULL	ENSG00000176542		0.453	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	260	0.38	1	T	NM_001009899		113378738	113378738	-1	no_errors	ENST00000316407	ensembl	human	known	69_37n	silent	254	19.62	62	SNP	0.951	G
KIAA2026	158358	genome.wustl.edu	37	9	5920431	5920431	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:5920431T>G	ENST00000399933.3	-	8	5564	c.5565A>C	c.(5563-5565)gcA>gcC	p.A1855A	KIAA2026_ENST00000381461.2_Silent_p.A1825A	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1855										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CATTGGATGGTGCCGAAGCCG	0.453																																						dbGAP											0													206.0	213.0	211.0					9																	5920431		2000	4172	6172	-	-	-	SO:0001819	synonymous_variant	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5565A>C	9.37:g.5920431T>G			A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	superfamily_Bromodomain	p.A1855	ENST00000399933.3	37	c.5565		9																																																																																			KIAA2026	-	NULL	ENSG00000183354		0.453	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	188	0.52	1	T	NM_001017969		5920431	5920431	-1	no_errors	ENST00000399933	ensembl	human	novel	69_37n	silent	155	19.27	37	SNP	0.019	G
KIF13B	23303	genome.wustl.edu	37	8	28997707	28997707	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:28997707A>C	ENST00000524189.1	-	21	2524	c.2486T>G	c.(2485-2487)gTg>gGg	p.V829G	CTD-2647L4.1_ENST00000523661.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA|RN7SL781P_ENST00000582428.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	829					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCGACCTGCCACCTGCAGCAA	0.527																																						dbGAP											0													44.0	46.0	45.0					8																	28997707		2187	4281	6468	-	-	-	SO:0001630	splice_region_variant	0			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2485-1T>G	8.37:g.28997707A>C			B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V829G	ENST00000524189.1	37	c.2486	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	A	17.04	3.285949	0.59867	.	.	ENSG00000197892	ENST00000524189	T	0.80994	-1.44	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.86864	2.845	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.92189	0.5758	10	0.87932	D	0	.	14.5201	0.67844	1.0:0.0:0.0:0.0	.	829	F8VPJ2	.	G	829	ENSP00000427900:V829G	ENSP00000427900:V829G	V	-	2	0	KIF13B	29053626	1.000000	0.71417	1.000000	0.80357	0.136000	0.21042	8.684000	0.91242	2.015000	0.59207	0.533000	0.62120	GTG	KIF13B	-	NULL	ENSG00000197892		0.527	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	120	0.82	1	A		Missense_Mutation	28997707	28997707	-1	no_errors	ENST00000524189	ensembl	human	known	69_37n	missense	69	19.77	17	SNP	1.000	C
KIF19	124602	genome.wustl.edu	37	17	72338120	72338120	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:72338120A>C	ENST00000389916.4	+	3	364	c.226A>C	c.(226-228)Acc>Ccc	p.T76P		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	76	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTTCACCGCCACCCAGGTGAG	0.662																																						dbGAP											0													82.0	79.0	80.0					17																	72338120		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.226A>C	17.37:g.72338120A>C	ENSP00000374566:p.Thr76Pro		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T76P	ENST00000389916.4	37	c.226	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	A	31	5.078331	0.94000	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.74315	-0.83;-0.83	5.5	5.5	0.81552	Kinesin, motor domain (4);	.	.	.	.	D	0.84410	0.5466	M	0.67569	2.06	0.58432	D	0.999995	D;D;B;P	0.67145	0.996;0.977;0.298;0.475	D;D;B;B	0.71184	0.972;0.917;0.225;0.287	D	0.86276	0.1664	9	0.87932	D	0	.	15.3253	0.74157	1.0:0.0:0.0:0.0	.	76;76;76;76	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	P	76	ENSP00000449134:T76P;ENSP00000374566:T76P	ENSP00000374566:T76P	T	+	1	0	KIF19	69849715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.716000	0.91420	2.101000	0.63845	0.449000	0.29647	ACC	KIF19	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000196169		0.662	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	65	0.00	0	A	NM_153209		72338120	72338120	+1	no_errors	ENST00000389916	ensembl	human	known	69_37n	missense	38	24.00	12	SNP	1.000	C
KIF20A	10112	genome.wustl.edu	37	5	137519736	137519736	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:137519736A>C	ENST00000394894.3	+	11	1520	c.1294A>C	c.(1294-1296)Acc>Ccc	p.T432P	KIF20A_ENST00000508792.1_Missense_Mutation_p.T414P	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	432	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)			AAACATTAACACCTCTCTACA	0.498																																						dbGAP											0													111.0	113.0	112.0					5																	137519736		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.1294A>C	5.37:g.137519736A>C	ENSP00000378356:p.Thr432Pro		B4DL79|D3DQB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T432P	ENST00000394894.3	37	c.1294	CCDS4199.1	5	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943104	0.73672	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.75477	-0.94;-0.94	5.19	5.19	0.71726	Kinesin, motor domain (4);	0.000000	0.46145	D	0.000301	D	0.85699	0.5757	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.981;1.0	P;D	0.91635	0.908;0.999	D	0.85739	0.1336	10	0.41790	T	0.15	-14.363	15.4996	0.75687	1.0:0.0:0.0:0.0	.	414;432	B4DL79;O95235	.;KI20A_HUMAN	P	432;414	ENSP00000378356:T432P;ENSP00000420880:T414P	ENSP00000378356:T432P	T	+	1	0	KIF20A	137547635	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.910000	0.75741	2.295000	0.77249	0.523000	0.50628	ACC	KIF20A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000112984		0.498	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1	174	0.56	1	A	NM_005733		137519736	137519736	+1	no_errors	ENST00000394894	ensembl	human	known	69_37n	missense	80	19.00	19	SNP	1.000	C
KIF21B	23046	genome.wustl.edu	37	1	200974450	200974450	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:200974450T>G	ENST00000422435.2	-	5	1034	c.718A>C	c.(718-720)Acc>Ccc	p.T240P	KIF21B_ENST00000461742.2_Missense_Mutation_p.T240P|KIF21B_ENST00000360529.5_Missense_Mutation_p.T240P|KIF21B_ENST00000332129.2_Missense_Mutation_p.T240P	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	240	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCGGGCTGGGTGCACATGCGC	0.642																																						dbGAP											0													71.0	65.0	67.0					1																	200974450		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.718A>C	1.37:g.200974450T>G	ENSP00000411831:p.Thr240Pro		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.T240P	ENST00000422435.2	37	c.718	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	T	3.971	-0.008391	0.07727	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92	5.17	-6.42	0.01932	Kinesin, motor domain (4);	0.365527	0.27650	N	0.018431	T	0.42966	0.1226	N	0.14661	0.345	0.27049	N	0.963831	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.51293	-0.8724	10	0.02654	T	1	.	8.7115	0.34387	0.3338:0.5596:0.0:0.1067	.	240;240;240;240	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	P	240	ENSP00000328494:T240P;ENSP00000353724:T240P;ENSP00000433808:T240P;ENSP00000411831:T240P	ENSP00000328494:T240P	T	-	1	0	KIF21B	199241073	0.000000	0.05858	0.965000	0.40720	0.903000	0.53119	-1.404000	0.02494	-0.884000	0.03976	-0.408000	0.06270	ACC	KIF21B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000116852		0.642	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	88	0.00	0	T	XM_371332		200974450	200974450	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	missense	121	14.79	21	SNP	0.950	G
KIF3C	3797	genome.wustl.edu	37	2	26203724	26203724	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:26203724T>G	ENST00000264712.3	-	1	1642	c.1063A>C	c.(1063-1065)Acc>Ccc	p.T355P	KIF3C_ENST00000405914.1_Missense_Mutation_p.T355P	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	355	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCGCAAGGTGGAGAGGCTC	0.592																																						dbGAP											0													93.0	85.0	88.0					2																	26203724		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.1063A>C	2.37:g.26203724T>G	ENSP00000264712:p.Thr355Pro		O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T355P	ENST00000264712.3	37	c.1063	CCDS1719.1	2	.	.	.	.	.	.	.	.	.	.	T	18.01	3.527601	0.64860	.	.	ENSG00000084731	ENST00000264712;ENST00000542511;ENST00000405914	T;T	0.60548	0.18;0.18	5.35	5.35	0.76521	Kinesin, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.87943	0.6305	H	0.99944	5.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93347	0.6715	10	0.87932	D	0	.	14.1633	0.65461	0.0:0.0:0.0:1.0	.	355;355	B7ZM25;O14782	.;KIF3C_HUMAN	P	355;161;355	ENSP00000264712:T355P;ENSP00000385030:T355P	ENSP00000264712:T355P	T	-	1	0	KIF3C	26057228	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.040000	0.89188	2.013000	0.59113	0.459000	0.35465	ACC	KIF3C	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom	ENSG00000084731		0.592	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1	160	0.61	1	T			26203724	26203724	-1	no_errors	ENST00000264712	ensembl	human	known	69_37n	missense	107	19.55	26	SNP	1.000	G
KIF9	64147	genome.wustl.edu	37	3	47277947	47277947	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:47277947T>G	ENST00000265529.3	-	19	2767	c.2087A>C	c.(2086-2088)cAc>cCc	p.H696P	KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000444589.2_Missense_Mutation_p.H631P|KIF9_ENST00000352910.4_Missense_Mutation_p.H538P|KIF9_ENST00000452770.2_Missense_Mutation_p.H696P|KIF9_ENST00000335044.2_Missense_Mutation_p.H696P			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	696					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAGCAGGCGGTGGCGACACTG	0.592																																					Colon(44;962 1147 15977 24541)	dbGAP											0													131.0	102.0	112.0					3																	47277947		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.2087A>C	3.37:g.47277947T>G	ENSP00000265529:p.His696Pro		Q86Z28|Q9H8A4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H696P	ENST00000265529.3	37	c.2087	CCDS2752.1	3	.	.	.	.	.	.	.	.	.	.	T	15.09	2.731242	0.48939	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.8	5.8	0.92144	.	0.322034	0.31648	N	0.007296	T	0.33089	0.0851	N	0.22421	0.69	0.29075	N	0.883074	B;B	0.24132	0.098;0.082	B;B	0.30646	0.118;0.055	T	0.26710	-1.0095	10	0.33141	T	0.24	.	14.102	0.65062	0.0:0.0:0.0:1.0	.	631;696	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	P	696;696;631;696;538	ENSP00000333942:H696P;ENSP00000265529:H696P;ENSP00000414987:H631P;ENSP00000391100:H696P;ENSP00000292334:H538P	ENSP00000265529:H696P	H	-	2	0	KIF9	47252951	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.180000	0.58296	2.220000	0.72140	0.533000	0.62120	CAC	KIF9	-	NULL	ENSG00000088727		0.592	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	HGNC	protein_coding	OTTHUMT00000257475.2	120	0.83	1	T			47277947	47277947	-1	no_errors	ENST00000265529	ensembl	human	known	69_37n	missense	70	21.98	20	SNP	1.000	G
KIFC1	3833	genome.wustl.edu	37	6	33374265	33374265	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:33374265T>G	ENST00000428849.2	+	8	2277		c.e8+2			NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1						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						AGCAACAAGGTGGGAATGGGA	0.607																																						dbGAP											0													39.0	41.0	41.0					6																	33374265		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	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.1827+2T>G	6.37:g.33374265T>G			O60887|Q14834|Q4KMP0|Q5SU09|Q6GMS7|Q6P4A5|Q9UQP7	Splice_Site	SNP	-	e8+2	ENST00000428849.2	37	c.1827+2	CCDS34430.1	6	.	.	.	.	.	.	.	.	.	.	N	15.97	2.989287	0.53934	.	.	ENSG00000237649	ENST00000428849	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.6826	0.56930	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIFC1	33482243	1.000000	0.71417	0.938000	0.37757	0.661000	0.39034	4.877000	0.63086	2.155000	0.67459	0.456000	0.33151	.	KIFC1	-	-	ENSG00000237649		0.607	KIFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC1	HGNC	protein_coding	OTTHUMT00000076417.1	88	0.00	0	T	NM_002263	Intron	33374265	33374265	+1	no_errors	ENST00000428849	ensembl	human	known	69_37n	splice_site	42	24.56	14	SNP	0.995	G
KIFC2	90990	genome.wustl.edu	37	8	145697644	145697644	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:145697644T>G	ENST00000301332.2	+	14	1984		c.e14+2		KIFC2_ENST00000301331.5_Intron|KIFC2_ENST00000531423.1_Splice_Site|FOXH1_ENST00000525197.1_5'Flank	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2						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)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|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;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCTGTCAGGTGGGCTACTCC	0.627																																						dbGAP											0													48.0	53.0	52.0					8																	145697644		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1607+2T>G	8.37:g.145697644T>G			E9PHB2|Q96NN6	Splice_Site	SNP	-	e14+2	ENST00000301332.2	37	c.1607+2	CCDS6427.1	8	.	.	.	.	.	.	.	.	.	.	T	10.67	1.414294	0.25465	.	.	ENSG00000167702	ENST00000301332	.	.	.	3.46	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.5625	0.45154	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIFC2	145668452	1.000000	0.71417	0.366000	0.25914	0.168000	0.22595	5.697000	0.68295	1.836000	0.53414	0.482000	0.46254	.	KIFC2	-	-	ENSG00000167702		0.627	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC2	HGNC	protein_coding	OTTHUMT00000382052.2	70	0.00	0	T	NM_145754	Intron	145697644	145697644	+1	no_errors	ENST00000301332	ensembl	human	known	69_37n	splice_site	35	23.91	11	SNP	0.812	G
KISS1	3814	genome.wustl.edu	37	1	204161955	204161955	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:204161955T>G	ENST00000367194.4	-	2	198	c.50A>C	c.(49-51)cAc>cCc	p.H17P		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	17					cytoskeleton organization (GO:0007010)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of luteinizing hormone secretion (GO:0033686)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of synaptic transmission (GO:0050806)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CTCCCCAAAGTGGGTGGCACA	0.527																																						dbGAP											0													31.0	32.0	32.0					1																	204161955		1862	4108	5970	-	-	-	SO:0001583	missense	0			U43527	CCDS41454.1	1q32	2014-01-30			ENSG00000170498	ENSG00000170498		"""Endogenous ligands"""	6341	protein-coding gene	gene with protein product	"""prepro-kisspeptin"", ""kisspeptin"""	603286				9192814, 9806840	Standard	NM_002256		Approved		uc001har.3	Q15726	OTTHUMG00000036060	ENST00000367194.4:c.50A>C	1.37:g.204161955T>G	ENSP00000356162:p.His17Pro		A8K6N0|Q9HBP1	Missense_Mutation	SNP	NULL	p.H17P	ENST00000367194.4	37	c.50	CCDS41454.1	1	.	.	.	.	.	.	.	.	.	.	T	6.672	0.492621	0.12702	.	.	ENSG00000170498	ENST00000367194	T	0.68765	-0.35	5.82	2.83	0.33086	.	0.716012	0.11983	N	0.510594	T	0.44685	0.1305	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.30679	-0.9970	10	0.40728	T	0.16	-5.7862	8.6253	0.33886	0.0:0.1433:0.5353:0.3214	.	17	Q15726	KISS1_HUMAN	P	17	ENSP00000356162:H17P	ENSP00000356162:H17P	H	-	2	0	KISS1	202428578	0.005000	0.15991	0.004000	0.12327	0.281000	0.26958	0.645000	0.24782	0.322000	0.23283	-0.219000	0.12488	CAC	KISS1	-	NULL	ENSG00000170498		0.527	KISS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KISS1	HGNC	protein_coding	OTTHUMT00000087892.1	107	0.93	1	T	NM_002256		204161955	204161955	-1	no_errors	ENST00000367194	ensembl	human	known	69_37n	missense	174	10.66	21	SNP	0.001	G
KLC4	89953	genome.wustl.edu	37	6	43040590	43040590	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:43040590T>G	ENST00000394056.2	+	14	2012	c.1517T>G	c.(1516-1518)gTg>gGg	p.V506G	KLC4_ENST00000394058.1_Missense_Mutation_p.V506G|KLC4_ENST00000479388.1_Missense_Mutation_p.V506G|KLC4_ENST00000347162.5_Missense_Mutation_p.V506G|KLC4_ENST00000453940.2_Missense_Mutation_p.V429G|KLC4_ENST00000259708.3_Missense_Mutation_p.V524G|RP11-387M24.5_ENST00000606123.1_RNA			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	506						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CAGACGAAGGTGGCAGAGCTG	0.537																																						dbGAP											0													115.0	104.0	107.0					6																	43040590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1517T>G	6.37:g.43040590T>G	ENSP00000377620:p.Val506Gly		B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.V524G	ENST00000394056.2	37	c.1571	CCDS4883.1	6	.	.	.	.	.	.	.	.	.	.	T	27.6	4.841706	0.91197	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	T;T;T;T;T;T	0.81247	-1.42;-1.43;-1.47;-1.42;-1.42;-1.42	5.89	5.89	0.94794	.	0.000000	0.56097	D	0.000034	D	0.85199	0.5642	L	0.56396	1.775	0.80722	D	1	D;D;D	0.76494	0.973;0.999;0.998	P;D;D	0.80764	0.469;0.994;0.987	D	0.87299	0.2304	10	0.87932	D	0	-16.5343	14.8833	0.70550	0.0:0.0:0.0:1.0	.	429;524;506	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	G	506;429;524;506;506;506	ENSP00000340221:V506G;ENSP00000395806:V429G;ENSP00000259708:V524G;ENSP00000418031:V506G;ENSP00000377620:V506G;ENSP00000377622:V506G	ENSP00000259708:V524G	V	+	2	0	KLC4	43148568	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.143000	0.77348	2.254000	0.74563	0.459000	0.35465	GTG	KLC4	-	NULL	ENSG00000137171		0.537	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLC4	HGNC	protein_coding	OTTHUMT00000040579.2	271	0.36	1	T	NM_138343		43040590	43040590	+1	no_errors	ENST00000259708	ensembl	human	known	69_37n	missense	249	13.79	40	SNP	1.000	G
KLHL18	23276	genome.wustl.edu	37	3	47324496	47324496	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:47324496A>C	ENST00000232766.5	+	1	61	c.41A>C	c.(40-42)cAc>cCc	p.H14P	KLHL18_ENST00000483201.1_3'UTR|KIF9_ENST00000265529.3_5'UTR|KIF9_ENST00000425452.1_5'Flank|KIF9_ENST00000432493.1_5'Flank|KIF9_ENST00000425853.1_5'Flank|KLHL18_ENST00000455924.2_5'UTR|KIF9_ENST00000444589.2_5'Flank|KIF9_ENST00000487440.1_5'Flank|KIF9_ENST00000352910.4_5'Flank|KIF9_ENST00000452770.2_5'Flank|KIF9_ENST00000335044.2_5'Flank	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	14										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GATCTGGTGCACTTCTCCGTG	0.672																																						dbGAP											0													81.0	61.0	68.0					3																	47324496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.41A>C	3.37:g.47324496A>C	ENSP00000232766:p.His14Pro		A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.H14P	ENST00000232766.5	37	c.41	CCDS33749.1	3	.	.	.	.	.	.	.	.	.	.	A	17.81	3.481372	0.63849	.	.	ENSG00000114648	ENST00000232766;ENST00000437353	T;T	0.70516	-0.49;-0.49	4.65	4.65	0.58169	BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.50752	0.1634	N	0.10664	0.02	0.80722	D	1	B	0.13145	0.007	B	0.15052	0.012	T	0.48055	-0.9068	10	0.35671	T	0.21	.	13.4909	0.61395	1.0:0.0:0.0:0.0	.	14	O94889	KLH18_HUMAN	P	14	ENSP00000232766:H14P;ENSP00000411839:H14P	ENSP00000232766:H14P	H	+	2	0	KLHL18	47299500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.512000	0.90538	1.957000	0.56846	0.529000	0.55759	CAC	KLHL18	-	superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin	ENSG00000114648		0.672	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	HGNC	protein_coding	OTTHUMT00000344493.1	129	0.76	1	A	NM_025010		47324496	47324496	+1	no_errors	ENST00000232766	ensembl	human	known	69_37n	missense	78	13.33	12	SNP	1.000	C
KLHL23	151230	genome.wustl.edu	37	2	170592338	170592338	+	Missense_Mutation	SNP	A	A	C	rs200903509		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:170592338A>C	ENST00000392647.2	+	2	1058	c.814A>C	c.(814-816)Aca>Cca	p.T272P	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.T272P	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	272										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCAGAGGTCCACAGCCACAAT	0.428																																						dbGAP											0													88.0	91.0	90.0					2																	170592338		2203	4300	6503	-	-	-	SO:0001583	missense	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.814A>C	2.37:g.170592338A>C	ENSP00000376419:p.Thr272Pro		Q8N9B9|Q96FT8	Missense_Mutation	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.T272P	ENST00000392647.2	37	c.814	CCDS2236.1	2	.	.	.	.	.	.	.	.	.	.	A	16.70	3.196859	0.58126	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.70869	-0.5;-0.5;-0.52	5.81	5.81	0.92471	.	0.050486	0.85682	D	0.000000	T	0.52058	0.1711	N	0.08118	0	0.33011	D	0.527531	B	0.18610	0.029	B	0.13407	0.009	T	0.55805	-0.8083	9	0.24483	T	0.36	.	16.167	0.81768	1.0:0.0:0.0:0.0	.	272	Q8NBE8	KLH23_HUMAN	P	272;272;93	ENSP00000272797:T272P;ENSP00000376419:T272P;ENSP00000394732:T93P	ENSP00000272797:T272P	T	+	1	0	KLHL23	170300584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.657000	0.67996	2.210000	0.71456	0.533000	0.62120	ACA	KLHL23	-	pirsf_Kelch-like_gigaxonin	ENSG00000213160		0.428	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2	84	0.00	0	A	NM_144711		170592338	170592338	+1	no_errors	ENST00000272797	ensembl	human	known	69_37n	missense	56	18.84	13	SNP	1.000	C
KLHL3	26249	genome.wustl.edu	37	5	137071327	137071327	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:137071327A>C	ENST00000309755.4	-	1	452	c.9T>G	c.(7-9)ggT>ggG	p.G3G	KLHL3_ENST00000394937.3_Silent_p.G3G	NM_017415.2	NP_059111.2	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	3					distal tubule morphogenesis (GO:0072156)|ion homeostasis (GO:0050801)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|renal sodium ion absorption (GO:0070294)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		catacCTTTCACCCTCCATTG	0.507																																						dbGAP											0													326.0	228.0	261.0					5																	137071327		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB032955	CCDS4192.1, CCDS58969.1, CCDS58970.1	5q31	2013-01-30	2013-01-30		ENSG00000146021	ENSG00000146021		"""Kelch-like"", ""BTB/POZ domain containing"""	6354	protein-coding gene	gene with protein product		605775	"""kelch (Drosophila)-like 3"", ""kelch-like 3 (Drosophila)"""			10843806	Standard	NM_017415		Approved	KIAA1129	uc010jek.3	Q9UH77	OTTHUMG00000129155	ENST00000309755.4:c.9T>G	5.37:g.137071327A>C			B2RBK7|Q9UH75|Q9UH76|Q9ULU0|Q9Y6V6	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G3	ENST00000309755.4	37	c.9	CCDS4192.1	5																																																																																			KLHL3	-	pirsf_Kelch-like_gigaxonin	ENSG00000146021		0.507	KLHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL3	HGNC	protein_coding	OTTHUMT00000251220.2	224	0.44	1	A			137071327	137071327	-1	no_errors	ENST00000309755	ensembl	human	known	69_37n	silent	230	13.53	36	SNP	0.994	C
KLHL38	340359	genome.wustl.edu	37	8	124664055	124664055	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:124664055A>C	ENST00000325995.7	-	1	1135	c.1112T>G	c.(1111-1113)gTg>gGg	p.V371G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	371										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GTAGCGGGCCACCAGCATGGG	0.567																																						dbGAP											0													64.0	66.0	66.0					8																	124664055		2017	4188	6205	-	-	-	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.1112T>G	8.37:g.124664055A>C	ENSP00000321475:p.Val371Gly		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.V371G	ENST00000325995.7	37	c.1112	CCDS43766.1	8	.	.	.	.	.	.	.	.	.	.	A	7.128	0.579309	0.13686	.	.	ENSG00000175946	ENST00000325995	T	0.68025	-0.3	5.18	-5.02	0.02982	Kelch-type beta propeller (1);	0.577609	0.19042	N	0.124271	T	0.55257	0.1909	M	0.69823	2.125	0.40434	D	0.979975	B	0.22909	0.077	B	0.19946	0.027	T	0.22243	-1.0222	10	0.25751	T	0.34	.	8.2799	0.31894	0.3801:0.0:0.4997:0.1202	.	371	Q2WGJ6	KLH38_HUMAN	G	371	ENSP00000321475:V371G	ENSP00000321475:V371G	V	-	2	0	KLHL38	124733236	0.135000	0.22499	0.073000	0.20177	0.983000	0.72400	0.432000	0.21461	-1.145000	0.02858	-0.441000	0.05720	GTG	KLHL38	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000175946		0.567	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	94	0.00	0	A			124664055	124664055	-1	no_errors	ENST00000325995	ensembl	human	known	69_37n	missense	74	11.90	10	SNP	0.034	C
KRT15	3866	genome.wustl.edu	37	17	39672354	39672354	+	Splice_Site	SNP	A	A	C	rs111609206		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:39672354A>C	ENST00000254043.3	-	4	4486		c.e4+1		KRT15_ENST00000393981.3_Splice_Site|KRT15_ENST00000393976.2_Splice_Site|KRT15_ENST00000393974.3_Splice_Site	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15						epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TATAAGGCCCACCTTGCTGAA	0.627																																						dbGAP											0													129.0	122.0	125.0					17																	39672354		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.900+1T>G	17.37:g.39672354A>C			B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Splice_Site	SNP	-	e4+2	ENST00000254043.3	37	c.900+2	CCDS11398.1	17	.	.	.	.	.	.	.	.	.	.	A	20.5	4.001790	0.74932	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8211	0.63320	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KRT15	36925880	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	8.679000	0.91220	2.093000	0.63338	0.533000	0.62120	.	KRT15	-	-	ENSG00000171346		0.627	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT15	HGNC	protein_coding	OTTHUMT00000257301.1	89	0.00	0	A	NM_002275	Intron	39672354	39672354	-1	no_errors	ENST00000254043	ensembl	human	known	69_37n	splice_site	95	17.24	20	SNP	1.000	C
KRT16P3	644945	genome.wustl.edu	37	17	20407367	20407367	+	RNA	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:20407367T>G	ENST00000580113.1	-	0	272									keratin 16 pseudogene 3																		GTCACCGAGGTGCTGCATGGT	0.627																																						dbGAP											0																																										-	-	-			0			BC110641		17p11.2	2014-06-12			ENSG00000214822	ENSG00000214822			37808	pseudogene	pseudogene			"""cytokeratin, Smith Magenis syndrome chromosome region"""	KERSMCR			Standard	NR_029393		Approved	MGC102966	uc002gxb.3		OTTHUMG00000130724		17.37:g.20407367T>G				RNA	SNP	-	NULL	ENST00000580113.1	37	NULL		17																																																																																			KRT16P3	-	-	ENSG00000214822		0.627	KRT16P3-004	KNOWN	basic	processed_transcript	KRT16P3	HGNC	pseudogene	OTTHUMT00000443764.1	395	0.25	1	T	NR_029393		20407367	20407367	-1	no_errors	ENST00000580113	ensembl	human	known	69_37n	rna	302	14.21	51	SNP	1.000	G
KRT15	3866	genome.wustl.edu	37	17	39674867	39674867	+	Silent	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:39674867T>C	ENST00000254043.3	-	1	3798	c.213A>G	c.(211-213)ggA>ggG	p.G71G	KRT15_ENST00000393981.3_5'Flank|KRT15_ENST00000393976.2_Silent_p.G71G|KRT15_ENST00000393974.3_5'UTR	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	71	Gly-rich.|Head.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				taccagcccctccaccaAAGC	0.577																																						dbGAP											0													265.0	281.0	276.0					17																	39674867		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.213A>G	17.37:g.39674867T>C			B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.G71	ENST00000254043.3	37	c.213	CCDS11398.1	17																																																																																			KRT15	-	NULL	ENSG00000171346		0.577	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT15	HGNC	protein_coding	OTTHUMT00000257301.1	573	0.52	3	T	NM_002275		39674867	39674867	-1	no_errors	ENST00000254043	ensembl	human	known	69_37n	silent	475	11.81	64	SNP	0.698	C
KRT19	3880	genome.wustl.edu	37	17	39681619	39681619	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:39681619A>C	ENST00000361566.3	-	2	481				KRT15_ENST00000254043.3_5'Flank	NM_002276.4	NP_002267.2	P08727	K1C19_HUMAN	keratin 19						cell differentiation involved in embryonic placenta development (GO:0060706)|response to estrogen (GO:0043627)|sarcomere organization (GO:0045214)|viral process (GO:0016032)	cell periphery (GO:0071944)|costamere (GO:0043034)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				AAATGAATATACCCCGGCACC	0.572																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS11399.1	17q21.2	2013-06-20			ENSG00000171345	ENSG00000171345		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6436	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 19"", ""keratin, type I, 40-kd"", ""cytokeratin 19"", ""40-kDa keratin intermediate filament"""	148020				16831889	Standard	NM_002276		Approved	K19, CK19, K1CS, MGC15366		P08727	OTTHUMG00000133422	ENST00000361566.3:c.421-94T>G	17.37:g.39681619A>C			B2R874|Q5XG83|Q6NW33|Q7L5M9|Q96A53|Q96FV1|Q9BYF9|Q9P1Y4	Splice_Site	SNP	-	e0+2	ENST00000361566.3	37	c.1+2	CCDS11399.1	17																																																																																			KRT19	-	-	ENSG00000171345		0.572	KRT19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT19	HGNC	protein_coding	OTTHUMT00000257285.1	56	0.00	0	A	NM_002276		39681619	39681619	-1	no_stop_codon	ENST00000593096	ensembl	human	putative	69_37n	splice_site	34	12.20	5	SNP	0.000	C
KRT3	3850	genome.wustl.edu	37	12	53189431	53189431	+	Silent	SNP	T	T	C	rs148531142|rs142692092		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:53189431T>C	ENST00000417996.2	-	1	470	c.396A>G	c.(394-396)ggA>ggG	p.G132G	KRT3_ENST00000309505.3_Silent_p.G132G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						caccagcccctccaaagccac	0.642																																						dbGAP											0													136.0	180.0	165.0					12																	53189431		2182	4263	6445	-	-	-	SO:0001819	synonymous_variant	0				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.396A>G	12.37:g.53189431T>C			A6NIS2|Q701L8	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.G132	ENST00000417996.2	37	c.396	CCDS44895.1	12																																																																																			KRT3	-	NULL	ENSG00000186442		0.642	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRT3	HGNC	protein_coding	OTTHUMT00000405930.1	600	0.82	5	T	NM_057088		53189431	53189431	-1	no_errors	ENST00000309505	ensembl	human	known	69_37n	silent	576	11.59	76	SNP	0.032	C
KRT33B	3884	genome.wustl.edu	37	17	39522846	39522846	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:39522846A>C	ENST00000251646.3	-	3	513	c.464T>G	c.(463-465)gTg>gGg	p.V155G		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	155	Coil 1B.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GTCGGACTCCACCAGCTGCCG	0.562																																						dbGAP											0													50.0	52.0	52.0					17																	39522846		2191	4300	6491	-	-	-	SO:0001583	missense	0			X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.464T>G	17.37:g.39522846A>C	ENSP00000251646:p.Val155Gly		O76010	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.V155G	ENST00000251646.3	37	c.464	CCDS11389.1	17	.	.	.	.	.	.	.	.	.	.	a	19.50	3.839771	0.71488	.	.	ENSG00000131738	ENST00000251646	D	0.90133	-2.62	4.51	4.51	0.55191	Filament (1);	0.000000	0.56097	D	0.000021	D	0.97219	0.9091	H	0.99197	4.465	0.80722	D	1	D	0.58620	0.983	D	0.68483	0.958	D	0.98251	1.0493	10	0.72032	D	0.01	.	13.441	0.61112	1.0:0.0:0.0:0.0	.	155	Q14525	KT33B_HUMAN	G	155	ENSP00000251646:V155G	ENSP00000251646:V155G	V	-	2	0	KRT33B	36776372	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	9.007000	0.93597	2.036000	0.60181	0.459000	0.35465	GTG	KRT33B	-	pfam_F,prints_Keratin_I	ENSG00000131738		0.562	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33B	HGNC	protein_coding	OTTHUMT00000257292.1	95	0.00	0	A	NM_002279		39522846	39522846	-1	no_errors	ENST00000251646	ensembl	human	known	69_37n	missense	60	23.75	19	SNP	1.000	C
KRT32	3882	genome.wustl.edu	37	17	39622149	39622149	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:39622149A>C	ENST00000225899.3	-	3	687	c.584T>G	c.(583-585)gTg>gGg	p.V195G	RNU2-32P_ENST00000411193.1_RNA	NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	195	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				GTCGGCCTCCACCAGCTGCCG	0.582																																						dbGAP											0													70.0	63.0	66.0					17																	39622149		2203	4300	6503	-	-	-	SO:0001583	missense	0			X90761	CCDS11393.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000108759	ENSG00000108759		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6449	protein-coding gene	gene with protein product	"""hard keratin type I"""	602760	"""keratin, hair, acidic, 2"""	KRTHA2		7556444, 8823373, 16831889	Standard	NM_002278		Approved	Ha-2	uc002hwr.3	Q14532	OTTHUMG00000133430	ENST00000225899.3:c.584T>G	17.37:g.39622149A>C	ENSP00000225899:p.Val195Gly			Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.V195G	ENST00000225899.3	37	c.584	CCDS11393.1	17	.	.	.	.	.	.	.	.	.	.	A	18.33	3.601339	0.66445	.	.	ENSG00000108759	ENST00000225899	D	0.90133	-2.62	4.93	4.93	0.64822	Filament (1);	0.000000	0.35646	N	0.003080	D	0.97126	0.9061	H	0.98370	4.215	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	D	0.98391	1.0563	10	0.72032	D	0.01	.	14.1263	0.65222	1.0:0.0:0.0:0.0	.	195	Q14532	K1H2_HUMAN	G	195	ENSP00000225899:V195G	ENSP00000225899:V195G	V	-	2	0	KRT32	36875675	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	7.570000	0.82390	2.003000	0.58678	0.456000	0.33151	GTG	KRT32	-	pfam_F,prints_Keratin_I	ENSG00000108759		0.582	KRT32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT32	HGNC	protein_coding	OTTHUMT00000257293.1	110	0.00	0	A	NM_002278		39622149	39622149	-1	no_errors	ENST00000225899	ensembl	human	known	69_37n	missense	77	23.00	23	SNP	1.000	C
KRT83	3889	genome.wustl.edu	37	12	52709711	52709711	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:52709711T>G	ENST00000293670.3	-	7	1290	c.1228A>C	c.(1228-1230)Acc>Ccc	p.T410P	AC121757.1_ENST00000594763.1_Intron	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	410	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCCTGTAGGTGGCGATCTCG	0.592																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	dbGAP											0													83.0	76.0	78.0					12																	52709711		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1228A>C	12.37:g.52709711T>G	ENSP00000293670:p.Thr410Pro		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.T410P	ENST00000293670.3	37	c.1228	CCDS8823.1	12	.	.	.	.	.	.	.	.	.	.	T	22.0	4.236082	0.79800	.	.	ENSG00000170523	ENST00000293670	D	0.91945	-2.94	3.84	3.84	0.44239	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.43260	U	0.000595	D	0.96984	0.9015	H	0.95712	3.71	0.48452	D	0.999654	D	0.89917	1.0	D	0.83275	0.996	D	0.97752	1.0215	10	0.87932	D	0	.	12.9313	0.58288	0.0:0.0:0.0:1.0	.	410	P78385	KRT83_HUMAN	P	410	ENSP00000293670:T410P	ENSP00000293670:T410P	T	-	1	0	KRT83	50995978	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.908000	0.87438	1.522000	0.49001	0.460000	0.39030	ACC	KRT83	-	pfam_F	ENSG00000170523		0.592	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT83	HGNC	protein_coding	OTTHUMT00000405182.1	84	0.00	0	T	NM_002282		52709711	52709711	-1	no_errors	ENST00000293670	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	1.000	G
KRT4	3851	genome.wustl.edu	37	12	53203234	53203234	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:53203234A>C	ENST00000551956.1	-	4	1259	c.767T>G	c.(766-768)gTg>gGg	p.V256G	KRT4_ENST00000293774.4_Missense_Mutation_p.V330G|KRT4_ENST00000458244.2_Missense_Mutation_p.V236G			P19013	K2C4_HUMAN	keratin 4	270	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTCCAACTCCACCTTGTTCAG	0.537																																					Pancreas(190;284 2995 41444 45903)	dbGAP											0													110.0	116.0	114.0					12																	53203234		2191	4299	6490	-	-	-	SO:0001583	missense	0				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.767T>G	12.37:g.53203234A>C	ENSP00000448220:p.Val256Gly		F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.V330G	ENST00000551956.1	37	c.989	CCDS41787.2	12	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555919	0.86231	.	.	ENSG00000170477	ENST00000551956;ENST00000293774;ENST00000458244	D;D;D	0.90504	-2.68;-2.68;-2.68	5.7	4.55	0.56014	Filament (1);	0.000000	0.43260	D	0.000591	D	0.95831	0.8643	M	0.93898	3.47	0.80722	D	1	D	0.63046	0.992	D	0.66497	0.944	D	0.95852	0.8875	10	0.87932	D	0	.	11.1001	0.48168	0.9266:0.0:0.0734:0.0	.	270	P19013	K2C4_HUMAN	G	256;330;236	ENSP00000448220:V256G;ENSP00000293774:V330G;ENSP00000387904:V236G	ENSP00000293774:V330G	V	-	2	0	KRT4	51489501	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.371000	0.44248	1.094000	0.41399	0.533000	0.62120	GTG	KRT4	-	pfam_F,prints_Keratin_I	ENSG00000170477		0.537	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	KRT4	HGNC	protein_coding	OTTHUMT00000405931.1	158	0.62	1	A	NM_002272		53203234	53203234	-1	no_errors	ENST00000293774	ensembl	human	known	69_37n	missense	103	17.46	22	SNP	1.000	C
KRTAP3-2	83897	genome.wustl.edu	37	17	39155916	39155916	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:39155916T>G	ENST00000391587.1	-	1	222	c.190A>C	c.(190-192)Acc>Ccc	p.T64P		NM_031959.2	NP_114165.1	Q9BYR7	KRA32_HUMAN	keratin associated protein 3-2	64						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				AGGAAGCAGGTGGGCACGCAG	0.632																																						dbGAP											0													58.0	71.0	67.0					17																	39155916		2202	4296	6498	-	-	-	SO:0001583	missense	0			AJ406932	CCDS32644.1	17q21.2	2013-06-25			ENSG00000212900	ENSG00000212900		"""Keratin associated proteins"""	16779	protein-coding gene	gene with protein product						11279113	Standard	NM_031959		Approved	KAP3.2	uc002hvs.3	Q9BYR7	OTTHUMG00000133581	ENST00000391587.1:c.190A>C	17.37:g.39155916T>G	ENSP00000375429:p.Thr64Pro			Missense_Mutation	SNP	pfam_Keratin_matx	p.T64P	ENST00000391587.1	37	c.190	CCDS32644.1	17	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633812	0.67130	.	.	ENSG00000212900	ENST00000391587	T	0.29917	1.55	5.76	2.23	0.28157	.	0.207950	0.33457	N	0.004886	T	0.33760	0.0874	.	.	.	0.35060	D	0.761508	P	0.46457	0.878	P	0.49387	0.609	T	0.42396	-0.9454	9	0.87932	D	0	.	4.7629	0.13116	0.2885:0.0796:0.0:0.6319	.	64	Q9BYR7	KRA32_HUMAN	P	64	ENSP00000375429:T64P	ENSP00000375429:T64P	T	-	1	0	KRTAP3-2	36409442	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	0.902000	0.28459	0.083000	0.17047	-0.502000	0.04539	ACC	KRTAP3-2	-	pfam_Keratin_matx	ENSG00000212900		0.632	KRTAP3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP3-2	HGNC	protein_coding	OTTHUMT00000257685.1	263	0.37	1	T			39155916	39155916	-1	no_errors	ENST00000391587	ensembl	human	known	69_37n	missense	161	12.37	23	SNP	1.000	G
KRTAP3-1	83896	genome.wustl.edu	37	17	39165112	39165112	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:39165112T>G	ENST00000391588.1	-	1	254	c.215A>C	c.(214-216)cAc>cCc	p.H72P	KRTAP3-1_ENST00000581033.1_5'UTR	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	72						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GGGAGTCGGGTGACAGTTGTT	0.592																																						dbGAP											0													73.0	64.0	67.0					17																	39165112		2203	4296	6499	-	-	-	SO:0001583	missense	0			AJ406931	CCDS32645.1	17q21.2	2013-06-25			ENSG00000212901	ENSG00000212901		"""Keratin associated proteins"""	16778	protein-coding gene	gene with protein product						11279113	Standard	NM_031958		Approved	KAP3.1	uc002hvt.1	Q9BYR8	OTTHUMG00000133595	ENST00000391588.1:c.215A>C	17.37:g.39165112T>G	ENSP00000375430:p.His72Pro		Q14DM4	Missense_Mutation	SNP	pfam_Keratin_matx	p.H72P	ENST00000391588.1	37	c.215	CCDS32645.1	17	.	.	.	.	.	.	.	.	.	.	T	10.59	1.392080	0.25118	.	.	ENSG00000212901	ENST00000391588	T	0.24723	1.84	5.3	5.3	0.74995	.	0.246896	0.28431	N	0.015369	T	0.32645	0.0836	.	.	.	0.31837	N	0.62393	P	0.42123	0.771	P	0.46144	0.505	T	0.47394	-0.9121	9	0.72032	D	0.01	-6.6361	11.9662	0.53035	0.0:0.0:0.0:1.0	.	72	Q9BYR8	KRA31_HUMAN	P	72	ENSP00000375430:H72P	ENSP00000375430:H72P	H	-	2	0	KRTAP3-1	36418638	0.990000	0.36364	0.887000	0.34795	0.133000	0.20885	3.502000	0.53332	2.139000	0.66308	0.514000	0.50259	CAC	KRTAP3-1	-	pfam_Keratin_matx	ENSG00000212901		0.592	KRTAP3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP3-1	HGNC	protein_coding	OTTHUMT00000257699.1	147	0.66	1	T			39165112	39165112	-1	no_errors	ENST00000391588	ensembl	human	known	69_37n	missense	88	16.04	17	SNP	0.992	G
KRTAP5-9	3846	genome.wustl.edu	37	11	71259913	71259913	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:71259913A>G	ENST00000528743.2	+	1	448	c.210A>G	c.(208-210)ggA>ggG	p.G70G		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	70	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GCTCCAAGGGAGGCTGTGGTT	0.627																																						dbGAP											0													102.0	119.0	113.0					11																	71259913		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.210A>G	11.37:g.71259913A>G			Q14564|Q3MIP8	Silent	SNP	NULL	p.G70	ENST00000528743.2	37	c.210	CCDS53677.1	11																																																																																			KRTAP5-9	-	NULL	ENSG00000254997		0.627	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-9	HGNC	protein_coding	OTTHUMT00000393901.2	261	0.75	2	A			71259913	71259913	+1	no_errors	ENST00000528743	ensembl	human	known	69_37n	silent	258	13.62	41	SNP	0.453	G
KRTAP6-3	337968	genome.wustl.edu	37	21	31964848	31964848	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:31964848A>G	ENST00000391624.1	+	1	90	c.63A>G	c.(61-63)ggA>ggG	p.G21G	KRTAP22-2_ENST00000382830.2_5'Flank	NM_181605.3	NP_853636.3	Q3LI67	KRA63_HUMAN	keratin associated protein 6-3	21						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						gtggctacggaggcctgggct	0.587																																						dbGAP											0													116.0	124.0	122.0					21																	31964848		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AP001708		21q22.1	2012-04-19			ENSG00000212938	ENSG00000212938		"""Keratin associated proteins"""	18933	protein-coding gene	gene with protein product						12359730	Standard	NM_181605		Approved	KAP6.3	uc002yom.3	Q3LI67	OTTHUMG00000057791	ENST00000391624.1:c.63A>G	21.37:g.31964848A>G			A4IF26	Silent	SNP	NULL	p.G21	ENST00000391624.1	37	c.63		21																																																																																			KRTAP6-3	-	NULL	ENSG00000212938		0.587	KRTAP6-3-001	KNOWN	basic|appris_principal	protein_coding	KRTAP6-3	HGNC	protein_coding	OTTHUMT00000128243.2	411	0.48	2	A	NM_181605		31964848	31964848	+1	no_errors	ENST00000391624	ensembl	human	known	69_37n	silent	402	10.86	49	SNP	1.000	G
KRTAP9-8	83901	genome.wustl.edu	37	17	39394379	39394379	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:39394379A>C	ENST00000254072.6	+	1	83	c.76A>C	c.(76-78)Acc>Ccc	p.T26P		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	26	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament (GO:0045095)				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CACTGTGACCACCTGCAGCAG	0.622																																						dbGAP											0													93.0	113.0	106.0					17																	39394379		2101	4298	6399	-	-	-	SO:0001583	missense	0			AJ406950	CCDS42334.1	17q21.2	2013-06-25			ENSG00000187272	ENSG00000187272		"""Keratin associated proteins"""	17231	protein-coding gene	gene with protein product						11279113	Standard	NM_031963		Approved	KAP9.8	uc002hwh.4	Q9BYQ0	OTTHUMG00000133604	ENST00000254072.6:c.76A>C	17.37:g.39394379A>C	ENSP00000254072:p.Thr26Pro			Missense_Mutation	SNP	NULL	p.T26P	ENST00000254072.6	37	c.76	CCDS42334.1	17	.	.	.	.	.	.	.	.	.	.	.	14.99	2.701138	0.48307	.	.	ENSG00000187272	ENST00000254072	T	0.01414	4.92	1.99	1.99	0.26369	.	.	.	.	.	T	0.03053	0.0090	L	0.43923	1.385	0.30891	N	0.730374	D	0.53151	0.958	P	0.57548	0.823	T	0.42732	-0.9434	9	0.25751	T	0.34	.	7.9548	0.30035	1.0:0.0:0.0:0.0	.	26	Q9BYQ0	KRA98_HUMAN	P	26	ENSP00000254072:T26P	ENSP00000254072:T26P	T	+	1	0	KRTAP9-8	36647905	0.760000	0.28428	0.047000	0.18901	0.750000	0.42670	0.167000	0.16602	1.155000	0.42497	0.374000	0.22700	ACC	KRTAP9-8	-	NULL	ENSG00000187272		0.622	KRTAP9-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-8	HGNC	protein_coding	OTTHUMT00000257712.1	152	0.65	1	A			39394379	39394379	+1	no_errors	ENST00000254072	ensembl	human	known	69_37n	missense	181	18.75	42	SNP	0.930	C
KRTAP9-4	85280	genome.wustl.edu	37	17	39406399	39406399	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:39406399A>C	ENST00000334109.2	+	1	461	c.427A>C	c.(427-429)Acc>Ccc	p.T143P		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	143	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament (GO:0045095)				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTTCCAGCCCACCTGTGTGTC	0.547																																						dbGAP											0													174.0	176.0	175.0					17																	39406399		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ406948	CCDS11386.1	17q21.2	2013-06-25			ENSG00000241595	ENSG00000241595		"""Keratin associated proteins"""	18902	protein-coding gene	gene with protein product						11279113	Standard	NM_033191		Approved	KAP9.4	uc002hwi.3	Q9BYQ2	OTTHUMG00000133438	ENST00000334109.2:c.427A>C	17.37:g.39406399A>C	ENSP00000334922:p.Thr143Pro		Q0VAE3	Missense_Mutation	SNP	NULL	p.T143P	ENST00000334109.2	37	c.427	CCDS11386.1	17	.	.	.	.	.	.	.	.	.	.	.	15.97	2.990159	0.54041	.	.	ENSG00000241595	ENST00000334109	T	0.01084	5.36	2.33	-4.66	0.03329	.	.	.	.	.	T	0.01835	0.0058	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.68483	0.958	T	0.34030	-0.9845	9	0.56958	D	0.05	.	0.2514	0.00206	0.3157:0.188:0.1389:0.3574	.	143	Q9BYQ2	KRA94_HUMAN	P	143	ENSP00000334922:T143P	ENSP00000334922:T143P	T	+	1	0	KRTAP9-4	36659925	0.381000	0.25140	0.000000	0.03702	0.551000	0.35334	0.039000	0.13884	-1.191000	0.02695	0.155000	0.16302	ACC	KRTAP9-4	-	NULL	ENSG00000241595		0.547	KRTAP9-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-4	HGNC	protein_coding	OTTHUMT00000257306.1	240	0.83	2	A			39406399	39406399	+1	no_errors	ENST00000334109	ensembl	human	known	69_37n	missense	259	13.58	41	SNP	0.001	C
L1CAM	3897	genome.wustl.edu	37	X	153135597	153135597	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:153135597A>C	ENST00000370060.1	-	9	1094	c.905T>G	c.(904-906)gTg>gGg	p.V302G	L1CAM_ENST00000361699.4_Missense_Mutation_p.V302G|L1CAM_ENST00000370055.1_Missense_Mutation_p.V297G|L1CAM_ENST00000538883.1_Missense_Mutation_p.V304G|L1CAM_ENST00000370057.3_Missense_Mutation_p.V302G|L1CAM_ENST00000543994.1_Missense_Mutation_p.V304G|L1CAM_ENST00000361981.3_Missense_Mutation_p.V297G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	302	Ig-like C2-type 3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCGCCCACTTTCAGCAG	0.627																																						dbGAP											0													196.0	167.0	177.0					X																	153135597		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.905T>G	X.37:g.153135597A>C	ENSP00000359077:p.Val302Gly		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	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.V304G	ENST00000370060.1	37	c.911	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943171	0.73672	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.109067	0.38436	N	0.001699	D	0.89054	0.6606	H	0.97077	3.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.998	D	0.92302	0.5850	10	0.87932	D	0	.	13.4817	0.61338	1.0:0.0:0.0:0.0	.	297;302;302	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	G	302;304;302;304;297;297;302	ENSP00000359077:V302G;ENSP00000438430:V304G;ENSP00000359074:V302G;ENSP00000439645:V304G;ENSP00000354712:V297G;ENSP00000359072:V297G;ENSP00000355380:V302G	ENSP00000355380:V302G	V	-	2	0	L1CAM	152788791	1.000000	0.71417	0.116000	0.21606	0.919000	0.55068	8.763000	0.91715	1.827000	0.53221	0.430000	0.28490	GTG	L1CAM	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000198910		0.627	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	102	0.97	1	A	NM_024003		153135597	153135597	-1	no_errors	ENST00000543994	ensembl	human	known	69_37n	missense	114	14.81	20	SNP	0.953	C
L1CAM	3897	genome.wustl.edu	37	X	153135897	153135897	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:153135897T>G	ENST00000370060.1	-	8	941	c.752A>C	c.(751-753)cAc>cCc	p.H251P	L1CAM_ENST00000361699.4_Missense_Mutation_p.H251P|L1CAM_ENST00000370055.1_Missense_Mutation_p.H246P|L1CAM_ENST00000538883.1_Missense_Mutation_p.H253P|L1CAM_ENST00000370057.3_Missense_Mutation_p.H251P|L1CAM_ENST00000543994.1_Missense_Mutation_p.H253P|L1CAM_ENST00000361981.3_Missense_Mutation_p.H246P	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	251	Ig-like C2-type 3.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCACCAGGTGGCTGCTGGA	0.662																																						dbGAP											0													60.0	58.0	59.0					X																	153135897		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.752A>C	X.37:g.153135897T>G	ENSP00000359077:p.His251Pro		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	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.H253P	ENST00000370060.1	37	c.758	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	T	13.45	2.239533	0.39598	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97;-0.97;-0.97;-0.97	4.84	1.08	0.20341	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.491195	0.18694	N	0.133772	T	0.57784	0.2077	N	0.05554	-0.025	0.26834	N	0.968524	B;B;B	0.27316	0.145;0.001;0.175	B;B;B	0.42138	0.26;0.001;0.377	T	0.54193	-0.8330	10	0.52906	T	0.07	.	3.9408	0.09326	0.0:0.29:0.1825:0.5275	.	246;251;251	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	P	251;253;251;253;246;246;251	ENSP00000359077:H251P;ENSP00000438430:H253P;ENSP00000359074:H251P;ENSP00000439645:H253P;ENSP00000354712:H246P;ENSP00000359072:H246P;ENSP00000355380:H251P	ENSP00000355380:H251P	H	-	2	0	L1CAM	152789091	0.418000	0.25440	1.000000	0.80357	0.986000	0.74619	0.097000	0.15168	0.501000	0.28013	0.430000	0.28490	CAC	L1CAM	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000198910		0.662	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	160	0.00	0	T	NM_024003		153135897	153135897	-1	no_errors	ENST00000543994	ensembl	human	known	69_37n	missense	137	13.58	22	SNP	0.994	G
L3MBTL4	91133	genome.wustl.edu	37	18	6171877	6171877	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:6171877T>G	ENST00000284898.6	-	13	1246	c.1046A>C	c.(1045-1047)cAc>cCc	p.H349P	L3MBTL4_ENST00000535782.1_Missense_Mutation_p.H162P|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.H349P|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.H349P|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.H349P	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	349					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCCGATCGGGTGGATATCAGG	0.443																																					Esophageal Squamous(41;748 902 17366 28959 43175)	dbGAP											0													89.0	66.0	74.0					18																	6171877		2195	4280	6475	-	-	-	SO:0001583	missense	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1046A>C	18.37:g.6171877T>G	ENSP00000284898:p.His349Pro		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.H349P	ENST00000284898.6	37	c.1046	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	T	18.33	3.599311	0.66332	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29	5.44	4.25	0.50352	.	0.147776	0.43579	D	0.000559	T	0.67154	0.2863	M	0.94142	3.5	0.48236	D	0.999611	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72097	-0.4393	10	0.72032	D	0.01	.	9.2965	0.37819	0.0:0.0:0.1815:0.8185	.	349;349	Q8NA19;F8W9S8	LMBL4_HUMAN;.	P	349;349;349;162;349	ENSP00000382976:H349P;ENSP00000318543:H349P;ENSP00000284898:H349P;ENSP00000444774:H162P;ENSP00000382975:H349P	ENSP00000284898:H349P	H	-	2	0	L3MBTL4	6161877	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.838000	0.48199	0.863000	0.35553	0.528000	0.53228	CAC	L3MBTL4	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000154655		0.443	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	154	0.64	1	T	NM_173464		6171877	6171877	-1	no_errors	ENST00000284898	ensembl	human	known	69_37n	missense	93	15.45	17	SNP	1.000	G
LAMA2	3908	genome.wustl.edu	37	6	129714318	129714318	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:129714318A>C	ENST00000421865.2	+	37	5412	c.5363A>C	c.(5362-5364)gAc>gCc	p.D1788A		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1788	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGCTTGGGACCTTTTGAGA	0.438																																						dbGAP											0													90.0	92.0	91.0					6																	129714318		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.5363A>C	6.37:g.129714318A>C	ENSP00000400365:p.Asp1788Ala		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.D1788A	ENST00000421865.2	37	c.5363	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	A	12.40	1.927904	0.34002	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.08720	3.06	5.39	4.2	0.49525	Laminin I (1);	0.106815	0.64402	N	0.000007	T	0.02571	0.0078	L	0.34521	1.04	0.46654	D	0.999141	B;B	0.17038	0.02;0.02	B;B	0.25614	0.062;0.062	T	0.33803	-0.9854	10	0.13853	T	0.58	.	12.6051	0.56519	0.8617:0.1383:0.0:0.0	.	1788;1788	A6NF00;P24043	.;LAMA2_HUMAN	A	1788	ENSP00000400365:D1788A	ENSP00000346769:D1788A	D	+	2	0	LAMA2	129756011	1.000000	0.71417	0.997000	0.53966	0.926000	0.56050	3.058000	0.49939	0.851000	0.35264	0.482000	0.46254	GAC	LAMA2	-	pfam_Laminin_I,superfamily_t-SNARE	ENSG00000196569		0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	170	0.58	1	A			129714318	129714318	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	missense	125	17.11	26	SNP	1.000	C
LAMA3	3909	genome.wustl.edu	37	18	21533030	21533030	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:21533030A>C	ENST00000313654.9	+	74	10054	c.9813A>C	c.(9811-9813)ccA>ccC	p.P3271P	LAMA3_ENST00000269217.6_Silent_p.P1662P|LAMA3_ENST00000399516.3_Silent_p.P3215P|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.P1606P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3271	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TCCCCTTCCCACCTGCCAGCA	0.517																																						dbGAP											0													160.0	128.0	139.0					18																	21533030		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9813A>C	18.37:g.21533030A>C			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.P3271	ENST00000313654.9	37	c.9813	CCDS42419.1	18																																																																																			LAMA3	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000053747		0.517	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	168	0.59	1	A	NM_000227, NM_198129		21533030	21533030	+1	no_errors	ENST00000313654	ensembl	human	known	69_37n	silent	113	18.57	26	SNP	0.000	C
LAMP3	27074	genome.wustl.edu	37	3	182871809	182871809	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:182871809T>G	ENST00000265598.3	-	2	675	c.420A>C	c.(418-420)ccA>ccC	p.P140P	LAMP3_ENST00000466939.1_Silent_p.P116P	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	140	Thr-rich.				cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TATGAGCTGGTGGGGTGATGG	0.537																																						dbGAP											0													315.0	316.0	315.0					3																	182871809		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.420A>C	3.37:g.182871809T>G			D3DNS4|O94781|Q8NEC8	Silent	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.P140	ENST00000265598.3	37	c.420	CCDS3242.1	3																																																																																			LAMP3	-	pfam_Lysosome-assoc_membr_glycop	ENSG00000078081		0.537	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP3	HGNC	protein_coding	OTTHUMT00000350863.1	566	0.35	2	T			182871809	182871809	-1	no_errors	ENST00000265598	ensembl	human	known	69_37n	silent	558	10.58	66	SNP	0.000	G
LAPTM5	7805	genome.wustl.edu	37	1	31212718	31212718	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:31212718T>G	ENST00000294507.3	-	4	399	c.325A>C	c.(325-327)Acc>Ccc	p.T109P	MIR4420_ENST00000583944.1_RNA|LAPTM5_ENST00000476492.1_5'Flank	NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	109					transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGCAGGGTGAGCAGGCAC	0.617																																						dbGAP											0													146.0	116.0	126.0					1																	31212718		2203	4300	6503	-	-	-	SO:0001583	missense	0			U51240	CCDS337.1	1p34	2009-07-20	2009-07-20		ENSG00000162511	ENSG00000162511			29612	protein-coding gene	gene with protein product		601476	"""lysosomal multispanning membrane protein 5"""			8661146, 12527926	Standard	NM_006762		Approved		uc001bsc.2	Q13571	OTTHUMG00000003707	ENST00000294507.3:c.325A>C	1.37:g.31212718T>G	ENSP00000294507:p.Thr109Pro		Q13240|Q14698|Q3KP54	Missense_Mutation	SNP	pfam_LAPTM4/5,tigrfam_LAPTM_4A/5	p.T109P	ENST00000294507.3	37	c.325	CCDS337.1	1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.371117	0.82573	.	.	ENSG00000162511	ENST00000294507;ENST00000424259	T	0.50548	0.74	5.82	5.82	0.92795	.	0.065996	0.64402	D	0.000007	T	0.66317	0.2777	M	0.72118	2.19	0.44055	D	0.996792	D	0.89917	1.0	D	0.81914	0.995	T	0.68187	-0.5475	10	0.52906	T	0.07	-50.4584	12.5782	0.56375	0.0:0.0:0.0:1.0	.	109	Q13571	LAPM5_HUMAN	P	109	ENSP00000294507:T109P	ENSP00000294507:T109P	T	-	1	0	LAPTM5	30985305	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.381000	0.59587	2.225000	0.72522	0.533000	0.62120	ACC	LAPTM5	-	pfam_LAPTM4/5,tigrfam_LAPTM_4A/5	ENSG00000162511		0.617	LAPTM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAPTM5	HGNC	protein_coding	OTTHUMT00000010463.1	141	0.00	0	T	NM_006762		31212718	31212718	-1	no_errors	ENST00000294507	ensembl	human	known	69_37n	missense	81	16.16	16	SNP	1.000	G
LARGE	9215	genome.wustl.edu	37	22	34022256	34022256	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:34022256T>G	ENST00000354992.2	-	5	1034	c.463A>C	c.(463-465)Acc>Ccc	p.T155P	LARGE_ENST00000402320.1_Missense_Mutation_p.T155P|LARGE_ENST00000397394.2_Missense_Mutation_p.T155P|LARGE_ENST00000437602.2_Missense_Mutation_p.T155P|LARGE_ENST00000337431.2_Missense_Mutation_p.T155P	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	155					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TTGACCAGGGTGACGACATCC	0.537																																					Colon(70;397 1175 4573 19089 45288)	dbGAP											0													130.0	101.0	111.0					22																	34022256		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.463A>C	22.37:g.34022256T>G	ENSP00000347088:p.Thr155Pro		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.T155P	ENST00000354992.2	37	c.463	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353812	0.82243	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	M	0.83118	2.625	0.80722	D	1	D;D;P	0.61697	0.99;0.964;0.808	D;P;P	0.69142	0.962;0.714;0.566	T	0.74858	-0.3521	10	0.59425	D	0.04	-4.7597	15.2875	0.73838	0.0:0.0:0.0:1.0	.	155;155;155	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	P	155	ENSP00000347088:T155P;ENSP00000336636:T155P;ENSP00000380549:T155P;ENSP00000385223:T155P;ENSP00000388544:T155P	ENSP00000336636:T155P	T	-	1	0	LARGE	32352256	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.125000	0.77193	2.082000	0.62665	0.533000	0.62120	ACC	LARGE	-	pfam_Glyco_trans_8	ENSG00000133424		0.537	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	170	0.58	1	T	NM_133642		34022256	34022256	-1	no_errors	ENST00000354992	ensembl	human	known	69_37n	missense	109	14.84	19	SNP	1.000	G
LATS2	26524	genome.wustl.edu	37	13	21549155	21549155	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:21549155T>G	ENST00000382592.4	-	8	3526	c.3121A>C	c.(3121-3123)Acc>Ccc	p.T1041P	LATS2_ENST00000542899.1_Missense_Mutation_p.T1041P	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTTCGGAAGGTGAATTCGTAA	0.512																																						dbGAP											0													213.0	190.0	197.0					13																	21549155		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.3121A>C	13.37:g.21549155T>G	ENSP00000372035:p.Thr1041Pro			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.T1041P	ENST00000382592.4	37	c.3121	CCDS9294.1	13	.	.	.	.	.	.	.	.	.	.	T	17.56	3.421063	0.62622	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.70045	-0.45;-0.45	6.07	6.07	0.98685	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);	0.000000	0.64402	D	0.000002	D	0.84483	0.5482	M	0.87617	2.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87056	0.2150	10	0.87932	D	0	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	1041	Q9NRM7	LATS2_HUMAN	P	1041	ENSP00000372035:T1041P;ENSP00000441817:T1041P	ENSP00000372035:T1041P	T	-	1	0	LATS2	20447155	1.000000	0.71417	0.997000	0.53966	0.046000	0.14306	7.636000	0.83301	2.326000	0.78906	0.533000	0.62120	ACC	LATS2	-	pfam_Pkinase_C,smart_AGC-kinase_C	ENSG00000150457		0.512	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS2	HGNC	protein_coding	OTTHUMT00000044102.1	277	0.00	0	T			21549155	21549155	-1	no_errors	ENST00000382592	ensembl	human	known	69_37n	missense	195	10.96	24	SNP	1.000	G
LCN9	392399	genome.wustl.edu	37	9	138556570	138556570	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:138556570T>G	ENST00000277526.3	+	3	236	c.236T>G	c.(235-237)gTg>gGg	p.V79G	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	79						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		GCTTCCAGGGTGCAGGGGGAG	0.622																																						dbGAP											0													40.0	48.0	45.0					9																	138556570		2070	4203	6273	-	-	-	SO:0001583	missense	0			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.236T>G	9.37:g.138556570T>G	ENSP00000277526:p.Val79Gly		C9J5F0|Q6JVE7	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary,prints_Odour-bd,prints_Blactoglobulin	p.V79G	ENST00000277526.3	37	c.236	CCDS56593.1	9	.	.	.	.	.	.	.	.	.	.	T	16.61	3.171639	0.57584	.	.	ENSG00000148386	ENST00000277526	T	0.07908	3.15	3.23	2.1	0.27182	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.955879	0.08507	N	0.935562	T	0.18882	0.0453	M	0.73217	2.22	0.24917	N	0.99201	D	0.65815	0.995	P	0.60789	0.879	T	0.22661	-1.0210	10	0.21540	T	0.41	-1.0102	4.3412	0.11110	0.0:0.1596:0.0:0.8404	.	79	Q8WX39	LCN9_HUMAN	G	79	ENSP00000277526:V79G	ENSP00000277526:V79G	V	+	2	0	LCN9	137696391	0.010000	0.17322	0.102000	0.21198	0.398000	0.30690	0.782000	0.26788	1.434000	0.47414	0.379000	0.24179	GTG	LCN9	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Maj_urinary	ENSG00000148386		0.622	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN9	HGNC	protein_coding	OTTHUMT00000410711.1	152	0.65	1	T	NM_001001676		138556570	138556570	+1	no_errors	ENST00000277526	ensembl	human	known	69_37n	missense	106	17.91	24	SNP	0.336	G
LDB2	9079	genome.wustl.edu	37	4	16504486	16504486	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:16504486A>C	ENST00000304523.5	-	8	1225	c.902T>G	c.(901-903)gTg>gGg	p.V301G	LDB2_ENST00000515064.1_Missense_Mutation_p.V299G|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000503178.2_3'UTR|LDB2_ENST00000502640.1_3'UTR|LDB2_ENST00000441778.2_3'UTR	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	301	LIM-binding domain (LID). {ECO:0000250}.				epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CTCTCCTACCACCATCACATC	0.493																																						dbGAP											0													161.0	147.0	151.0					4																	16504486		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.902T>G	4.37:g.16504486A>C	ENSP00000306772:p.Val301Gly		O60619|O75480	Missense_Mutation	SNP	NULL	p.V301G	ENST00000304523.5	37	c.902	CCDS3420.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.57|18.57	3.652093|3.652093	0.67472|0.67472	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000515064;ENST00000304523|ENST00000507464	T;T|.	0.38887|.	1.11;1.11|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|T	0.73410|0.73410	0.3583|0.3583	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.41345|.	0.487;0.746;0.594;0.716|.	B;P;B;B|.	0.45232|.	0.137;0.474;0.118;0.318|.	T|T	0.73613|0.73613	-0.3927|-0.3927	10|5	0.33940|.	T|.	0.23|.	-17.5457|-17.5457	14.9894|14.9894	0.71374|0.71374	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	265;299;301;275|.	B7Z6D0;G5E9Y7;O43679;O43679-3|.	.;.;LDB2_HUMAN;.|.	G|G	299;301|222	ENSP00000422552:V299G;ENSP00000306772:V301G|.	ENSP00000306772:V301G|.	V|W	-|-	2|1	0|0	LDB2|LDB2	16113584|16113584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.339000|9.339000	0.96797|0.96797	2.137000|2.137000	0.66172|0.66172	0.533000|0.533000	0.62120|0.62120	GTG|TGG	LDB2	-	NULL	ENSG00000169744		0.493	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDB2	HGNC	protein_coding	OTTHUMT00000250321.2	143	0.69	1	A			16504486	16504486	-1	no_errors	ENST00000304523	ensembl	human	known	69_37n	missense	155	18.42	35	SNP	1.000	C
LEPRE1	64175	genome.wustl.edu	37	1	43212516	43212516	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:43212516A>C	ENST00000296388.5	-	15	2114	c.2063T>G	c.(2062-2064)gTg>gGg	p.V688G	LEPRE1_ENST00000236040.4_3'UTR|LEPRE1_ENST00000397054.3_Silent_p.G694G|LEPRE1_ENST00000462474.1_5'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	688					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)	ATCTGCCTGCACCCTGTCCTG	0.607																																						dbGAP											0													49.0	59.0	56.0					1																	43212516		692	1591	2283	-	-	-	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.2063T>G	1.37:g.43212516A>C	ENSP00000296388:p.Val688Gly		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.V688G	ENST00000296388.5	37	c.2063	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.035620	0.75617	.	.	ENSG00000117385	ENST00000296388;ENST00000540027	T	0.35973	1.28	5.12	5.12	0.69794	.	.	.	.	.	T	0.38772	0.1053	.	.	.	0.80722	D	1	P	0.50443	0.935	P	0.45474	0.482	T	0.28681	-1.0036	8	0.51188	T	0.08	.	12.9213	0.58234	1.0:0.0:0.0:0.0	.	688	Q32P28	P3H1_HUMAN	G	688;553	ENSP00000296388:V688G	ENSP00000296388:V688G	V	-	2	0	LEPRE1	42985103	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	6.230000	0.72301	2.152000	0.67230	0.533000	0.62120	GTG	LEPRE1	-	NULL	ENSG00000117385		0.607	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	134	0.74	1	A	NM_022356		43212516	43212516	-1	no_errors	ENST00000296388	ensembl	human	known	69_37n	missense	57	18.57	13	SNP	1.000	C
LEPRE1	64175	genome.wustl.edu	37	1	43213887	43213887	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:43213887T>G	ENST00000296388.5	-	12	1873	c.1822A>C	c.(1822-1824)Acc>Ccc	p.T608P	LEPRE1_ENST00000236040.4_Missense_Mutation_p.T608P|LEPRE1_ENST00000397054.3_Missense_Mutation_p.T608P|LEPRE1_ENST00000462474.1_5'Flank			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	608	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)	TCGCGGAAGGTGTAGGCTGGG	0.612																																						dbGAP											0													85.0	72.0	76.0					1																	43213887		2203	4300	6503	-	-	-	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.1822A>C	1.37:g.43213887T>G	ENSP00000296388:p.Thr608Pro		Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.T608P	ENST00000296388.5	37	c.1822	CCDS472.2	1	.	.	.	.	.	.	.	.	.	.	T	19.21	3.783733	0.70222	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027	T;T;T	0.57907	0.37;0.37;0.37	5.79	5.79	0.91817	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.68118	0.2966	L	0.58969	1.84	0.52099	D	0.999949	D;D;D	0.76494	0.999;0.987;0.998	D;D;D	0.71656	0.974;0.932;0.953	T	0.71122	-0.4684	10	0.87932	D	0	-36.0392	14.0696	0.64852	0.0:0.0:0.0:1.0	.	608;473;608	Q32P28-3;B4DNM8;Q32P28	.;.;P3H1_HUMAN	P	608;608;608;473	ENSP00000380245:T608P;ENSP00000236040:T608P;ENSP00000296388:T608P	ENSP00000236040:T608P	T	-	1	0	LEPRE1	42986474	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	5.838000	0.69388	2.211000	0.71520	0.460000	0.39030	ACC	LEPRE1	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	ENSG00000117385		0.612	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	142	0.00	0	T	NM_022356		43213887	43213887	-1	no_errors	ENST00000236040	ensembl	human	known	69_37n	missense	95	17.95	21	SNP	1.000	G
LGALS9	3965	genome.wustl.edu	37	17	25975952	25975952	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:25975952A>C	ENST00000395473.2	+	11	2480	c.1012A>C	c.(1012-1014)Acc>Ccc	p.T338P	LGALS9_ENST00000413914.2_3'UTR|LGALS9_ENST00000310394.5_Missense_Mutation_p.T294P|LGALS9_ENST00000302228.5_Missense_Mutation_p.T306P|LGALS9_ENST00000313648.6_3'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	338	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GAACCTGCCCACCATCAACAG	0.612																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)	dbGAP											0													258.0	235.0	243.0					17																	25975952		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.1012A>C	17.37:g.25975952A>C	ENSP00000378856:p.Thr338Pro		A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.T338P	ENST00000395473.2	37	c.1012	CCDS11222.1	17	.	.	.	.	.	.	.	.	.	.	A	4.965	0.179268	0.09443	.	.	ENSG00000168961	ENST00000395473;ENST00000302228;ENST00000310394	T;T;T	0.05996	3.36;3.36;3.36	4.73	-0.0828	0.13697	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	1.207360	0.05636	N	0.582580	T	0.05227	0.0139	L	0.41492	1.28	0.09310	N	1	B;B;B	0.29232	0.017;0.238;0.155	B;B;B	0.27380	0.053;0.079;0.079	T	0.43798	-0.9369	10	0.32370	T	0.25	.	0.6561	0.00835	0.3119:0.1537:0.356:0.1784	.	249;306;338	B4DJD7;Q3B8N1;O00182	.;.;LEG9_HUMAN	P	338;306;294	ENSP00000378856:T338P;ENSP00000306228:T306P;ENSP00000312259:T294P	ENSP00000306228:T306P	T	+	1	0	LGALS9	23000079	0.000000	0.05858	0.045000	0.18777	0.001000	0.01503	-0.952000	0.03881	0.432000	0.26286	-0.242000	0.12053	ACC	LGALS9	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000168961		0.612	LGALS9-001	KNOWN	basic|CCDS	protein_coding	LGALS9	HGNC	protein_coding	OTTHUMT00000255583.1	128	0.00	0	A	NM_009587		25975952	25975952	+1	no_errors	ENST00000395473	ensembl	human	known	69_37n	missense	186	11.43	24	SNP	0.000	C
LGI3	203190	genome.wustl.edu	37	8	22006075	22006075	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:22006075A>C	ENST00000306317.2	-	8	1534	c.1245T>G	c.(1243-1245)ggT>ggG	p.G415G	LGI3_ENST00000424267.2_Silent_p.G391G	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	415					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GGGTCACCTCACCCTGGGCCA	0.617																																						dbGAP											0													80.0	64.0	69.0					8																	22006075		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1245T>G	8.37:g.22006075A>C			A5PLP2|Q86TL4|Q8N296	Silent	SNP	pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.G415	ENST00000306317.2	37	c.1245	CCDS6025.1	8																																																																																			LGI3	-	pfam_EPTP,pfscan_EAR	ENSG00000168481		0.617	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI3	HGNC	protein_coding	OTTHUMT00000254482.1	107	0.00	0	A			22006075	22006075	-1	no_errors	ENST00000306317	ensembl	human	known	69_37n	silent	66	21.43	18	SNP	0.001	C
LGR6	59352	genome.wustl.edu	37	1	202272456	202272456	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:202272456A>C	ENST00000367278.3	+	10	1068	c.979A>C	c.(979-981)Acc>Ccc	p.T327P	LGR6_ENST00000439764.2_Missense_Mutation_p.T188P|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.T275P	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	327					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCAAAGGCACCACCAGCCT	0.537																																						dbGAP											0													136.0	123.0	127.0					1																	202272456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.979A>C	1.37:g.202272456A>C	ENSP00000356247:p.Thr327Pro		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn	p.T327P	ENST00000367278.3	37	c.979	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.319999	0.60634	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542;ENST00000439764	T;T;T;T	0.24538	5.51;4.34;1.89;1.85	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	M	0.80183	2.485	0.41162	D	0.986102	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.989;0.997;0.994	T	0.58463	-0.7632	10	0.72032	D	0.01	.	12.5302	0.56111	1.0:0.0:0.0:0.0	.	188;275;327	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	P	327;275;181;181;188	ENSP00000356247:T327P;ENSP00000255432:T275P;ENSP00000402284:T181P;ENSP00000387869:T188P	ENSP00000255432:T275P	T	+	1	0	LGR6	200539079	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	7.395000	0.79876	2.203000	0.70933	0.460000	0.39030	ACC	LGR6	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000133067		0.537	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	548	0.72	4	A	NM_021636		202272456	202272456	+1	no_errors	ENST00000367278	ensembl	human	known	69_37n	missense	212	17.19	44	SNP	1.000	C
LGR6	59352	genome.wustl.edu	37	1	202272459	202272459	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:202272459A>C	ENST00000367278.3	+	10	1071	c.982A>C	c.(982-984)Acc>Ccc	p.T328P	LGR6_ENST00000439764.2_Missense_Mutation_p.T189P|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.T276P	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	328					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CAAAGGCACCACCAGCCTGGA	0.542																																						dbGAP											0													135.0	123.0	127.0					1																	202272459		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.982A>C	1.37:g.202272459A>C	ENSP00000356247:p.Thr328Pro		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn	p.T328P	ENST00000367278.3	37	c.982	CCDS30971.1	1	.	.	.	.	.	.	.	.	.	.	A	14.64	2.597086	0.46318	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000367277;ENST00000423542;ENST00000439764	T;T;T;T	0.52754	5.55;4.32;0.65;1.89	5.8	3.36	0.38483	.	0.105878	0.64402	D	0.000005	T	0.52917	0.1764	L	0.37897	1.145	0.34935	D	0.749729	D;D;D	0.89917	1.0;0.993;0.999	D;D;D	0.79108	0.992;0.947;0.979	T	0.59747	-0.7396	10	0.33940	T	0.23	.	8.6069	0.33778	0.6953:0.0:0.0:0.3047	.	189;276;328	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	P	328;276;182;182;189	ENSP00000356247:T328P;ENSP00000255432:T276P;ENSP00000402284:T182P;ENSP00000387869:T189P	ENSP00000255432:T276P	T	+	1	0	LGR6	200539082	1.000000	0.71417	1.000000	0.80357	0.487000	0.33371	4.540000	0.60664	0.984000	0.38629	0.460000	0.39030	ACC	LGR6	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000133067		0.542	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR6	HGNC	protein_coding	OTTHUMT00000099143.1	560	0.35	2	A	NM_021636		202272459	202272459	+1	no_errors	ENST00000367278	ensembl	human	known	69_37n	missense	208	18.68	48	SNP	1.000	C
LIAS	11019	genome.wustl.edu	37	4	39465211	39465211	+	Missense_Mutation	SNP	A	A	C	rs199754431		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:39465211A>C	ENST00000261434.3	+	4	497	c.379A>C	c.(379-381)Aca>Cca	p.T127P	LIAS_ENST00000513731.1_Intron|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000340169.2_Missense_Mutation_p.T127P|LIAS_ENST00000381846.1_Missense_Mutation_p.T127P	NM_006859.2	NP_006850.2			lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						TGCCACCGCCACAGCCACGAT	0.458																																						dbGAP											0													73.0	67.0	69.0					4																	39465211		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369	ENST00000261434.3:c.379A>C	4.37:g.39465211A>C	ENSP00000261434:p.Thr127Pro			Missense_Mutation	SNP	pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth	p.T127P	ENST00000261434.3	37	c.379	CCDS3453.1	4	.	.	.	.	.	.	.	.	.	.	A	21.1	4.101188	0.76983	.	.	ENSG00000121897	ENST00000340169;ENST00000261434;ENST00000381846	T;T;T	0.78364	-1.17;-1.17;-1.17	5.28	5.28	0.74379	Elongator protein 3/MiaB/NifB (1);Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.90448	0.7009	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.97110	0.986;0.986;1.0	D	0.92592	0.6084	10	0.87932	D	0	-18.2097	12.9467	0.58376	1.0:0.0:0.0:0.0	.	127;127;127	C9JCF6;O43766;Q6P5Q6	.;LIAS_HUMAN;.	P	127	ENSP00000340676:T127P;ENSP00000261434:T127P;ENSP00000371270:T127P	ENSP00000261434:T127P	T	+	1	0	LIAS	39141606	1.000000	0.71417	0.996000	0.52242	0.567000	0.35839	8.837000	0.92110	2.002000	0.58637	0.533000	0.62120	ACA	LIAS	-	smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth	ENSG00000121897		0.458	LIAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIAS	HGNC	protein_coding	OTTHUMT00000216815.1	131	0.75	1	A	NM_194451		39465211	39465211	+1	no_errors	ENST00000261434	ensembl	human	known	69_37n	missense	90	20.69	24	SNP	1.000	C
LIG3	3980	genome.wustl.edu	37	17	33325272	33325272	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:33325272T>G	ENST00000378526.4	+	13	2079	c.1946T>G	c.(1945-1947)gTg>gGg	p.V649G	LIG3_ENST00000262327.5_Missense_Mutation_p.V649G	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	649					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	ATAACCCGGGTGATCCAGGAG	0.562								Other BER factors			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													133.0	119.0	124.0					17																	33325272		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.1946T>G	17.37:g.33325272T>G	ENSP00000367787:p.Val649Gly	839	Q16714|Q6NVK3	Missense_Mutation	SNP	pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold-like,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	p.V649G	ENST00000378526.4	37	c.1946	CCDS11284.2	17	.	.	.	.	.	.	.	.	.	.	T	25.0	4.588525	0.86851	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	D;D	0.85088	-1.94;-1.94	5.03	5.03	0.67393	DNA ligase, ATP-dependent, central (2);	0.000000	0.85682	D	0.000000	D	0.92799	0.7710	M	0.88031	2.925	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.68621	0.959;0.959	D	0.94004	0.7278	10	0.72032	D	0.01	-17.312	14.0868	0.64962	0.0:0.0:0.0:1.0	.	649;649	P49916;E5KLB6	DNLI3_HUMAN;.	G	649	ENSP00000367787:V649G;ENSP00000262327:V649G	ENSP00000262327:V649G	V	+	2	0	LIG3	30349385	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.425000	0.80255	2.111000	0.64477	0.533000	0.62120	GTG	LIG3	-	pfam_DNA_ligase_ATP-dep_cent,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep	ENSG00000005156		0.562	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	HGNC	protein_coding	OTTHUMT00000250330.3	292	0.67	2	T	NM_013975		33325272	33325272	+1	no_errors	ENST00000378526	ensembl	human	known	69_37n	missense	299	10.95	37	SNP	1.000	G
LILRB5	10990	genome.wustl.edu	37	19	54756347	54756347	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:54756347A>C	ENST00000316219.5	-	10	1643		c.e10+1		LILRB5_ENST00000450632.1_Splice_Site|LILRB5_ENST00000449561.2_Splice_Site|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000345866.6_Splice_Site	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ATGCAGAATTACCTCTTCTGC	0.637																																						dbGAP											0													144.0	131.0	136.0					19																	54756347		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1535+1T>G	19.37:g.54756347A>C			Q8N760	Splice_Site	SNP	-	e10+2	ENST00000316219.5	37	c.1511+2	CCDS12885.1	19	.	.	.	.	.	.	.	.	.	.	A	7.690	0.690834	0.15039	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	.	.	.	2.08	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.31150	N	0.705561	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1396	0.20253	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LILRB5	59448159	0.001000	0.12720	0.083000	0.20561	0.046000	0.14306	0.573000	0.23699	1.192000	0.43071	0.477000	0.44152	.	LILRB5	-	-	ENSG00000105609		0.637	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB5	HGNC	protein_coding	OTTHUMT00000142877.2	173	0.00	0	A		Intron	54756347	54756347	-1	no_errors	ENST00000450632	ensembl	human	known	69_37n	splice_site	205	13.39	32	SNP	0.104	C
LIMCH1	22998	genome.wustl.edu	37	4	41689909	41689909	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:41689909A>C	ENST00000313860.7	+	24	3043	c.2989A>C	c.(2989-2991)Acc>Ccc	p.T997P	LIMCH1_ENST00000509277.1_Missense_Mutation_p.T830P|LIMCH1_ENST00000508501.1_Intron|LIMCH1_ENST00000513024.1_Intron|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000514096.1_Intron|LIMCH1_ENST00000512632.1_Intron|LIMCH1_ENST00000511496.1_Intron|LIMCH1_ENST00000512820.1_Intron|LIMCH1_ENST00000512946.1_Intron|LIMCH1_ENST00000396595.3_Intron|LIMCH1_ENST00000503057.1_Missense_Mutation_p.T1381P|LIMCH1_ENST00000381753.4_Intron	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	997					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CTGTTCTCCCACCCCTCCCGG	0.493																																						dbGAP											0													72.0	73.0	72.0					4																	41689909		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.2989A>C	4.37:g.41689909A>C	ENSP00000316891:p.Thr997Pro		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.T1381P	ENST00000313860.7	37	c.4141	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658613	0.47467	.	.	ENSG00000064042	ENST00000313860;ENST00000503057;ENST00000313875;ENST00000509277	T;T;T	0.48201	1.43;0.82;0.87	5.42	5.42	0.78866	.	0.455968	0.22445	N	0.059968	T	0.53899	0.1825	L	0.43152	1.355	0.80722	D	1	B;P;D;P	0.63880	0.003;0.938;0.993;0.857	B;P;P;P	0.58454	0.002;0.58;0.839;0.58	T	0.54682	-0.8257	10	0.52906	T	0.07	-15.1732	10.2614	0.43430	0.9166:0.0:0.0834:0.0	.	747;830;1381;997	B7Z3G0;E9PDJ9;G5EA03;Q9UPQ0	.;.;.;LIMC1_HUMAN	P	997;1381;1380;830	ENSP00000316891:T997P;ENSP00000425631:T1381P;ENSP00000422864:T830P	ENSP00000316891:T997P	T	+	1	0	LIMCH1	41384666	1.000000	0.71417	0.963000	0.40424	0.975000	0.68041	4.829000	0.62737	2.063000	0.61619	0.477000	0.44152	ACC	LIMCH1	-	NULL	ENSG00000064042		0.493	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2	124	0.80	1	A	NM_014988		41689909	41689909	+1	no_errors	ENST00000503057	ensembl	human	known	69_37n	missense	106	15.87	20	SNP	0.995	C
MIR99AHG	388815	genome.wustl.edu	37	21	17566848	17566848	+	lincRNA	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:17566848T>G	ENST00000458468.1	+	0	409					NR_027790.1																						GGCCTCTGGGTGGCAGCTCTG	0.463																																						dbGAP											0													69.0	75.0	73.0					21																	17566848		2203	4300	6503	-	-	-			0																															21.37:g.17566848T>G				RNA	SNP	-	NULL	ENST00000458468.1	37	NULL		21																																																																																			LINC00478	-	-	ENSG00000215386		0.463	LINC00478-001	KNOWN	basic	lincRNA	LINC00478	HGNC	lincRNA	OTTHUMT00000158029.1	222	0.00	0	T			17566848	17566848	+1	no_errors	ENST00000419952	ensembl	human	known	69_37n	rna	163	12.83	24	SNP	1.000	G
LMAN1L	79748	genome.wustl.edu	37	15	75116718	75116718	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:75116718A>C	ENST00000309664.5	+	13	1489	c.1350A>C	c.(1348-1350)ccA>ccC	p.P450P	RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Silent_p.P438P|CPLX3_ENST00000395018.4_5'Flank	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	450						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						CCCCCCGCCCACCTGGCCAGC	0.587																																						dbGAP											0													94.0	104.0	100.0					15																	75116718		2197	4295	6492	-	-	-	SO:0001819	synonymous_variant	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.1350A>C	15.37:g.75116718A>C			Q6UWN2	Silent	SNP	pfam_Lectin_leg,superfamily_ConA-like_lec_gl	p.P450	ENST00000309664.5	37	c.1350	CCDS10270.1	15																																																																																			LMAN1L	-	NULL	ENSG00000140506		0.587	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	HGNC	protein_coding	OTTHUMT00000286397.4	60	0.00	0	A			75116718	75116718	+1	no_errors	ENST00000309664	ensembl	human	known	69_37n	silent	52	23.53	16	SNP	0.000	C
LMNB2	84823	genome.wustl.edu	37	19	2432478	2432478	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:2432478T>C	ENST00000582871.1	-	9	1552	c.1466A>G	c.(1465-1467)gAg>gGg	p.E489G	LMNB2_ENST00000325327.3_Missense_Mutation_p.E509G|LMNB2_ENST00000475819.1_5'Flank	NM_032737.3	NP_116126.3	Q03252	LMNB2_HUMAN	lamin B2	489	LTD.|Tail.					lamin filament (GO:0005638)|nuclear inner membrane (GO:0005637)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		CTCCTCCCCCTCCAAGACCTG	0.637																																						dbGAP											0													297.0	220.0	246.0					19																	2432478		2203	4300	6503	-	-	-	SO:0001583	missense	0			M94362	CCDS12090.1, CCDS12090.2	19p13.3	2013-01-16			ENSG00000176619	ENSG00000176619		"""Intermediate filaments type V, lamins"""	6638	protein-coding gene	gene with protein product		150341		LMN2		1630457	Standard	NM_032737		Approved		uc002lvy.4	Q03252	OTTHUMG00000150626	ENST00000582871.1:c.1466A>G	19.37:g.2432478T>C	ENSP00000462730:p.Glu489Gly		O75292|Q14734|Q96DF6	Missense_Mutation	SNP	pfam_F,pfam_Lamin_tail_dom,superfamily_Prefoldin	p.E509G	ENST00000582871.1	37	c.1526		19	.	.	.	.	.	.	.	.	.	.	T	12.26	1.885101	0.33255	.	.	ENSG00000176619	ENST00000325327	.	.	.	4.11	2.0	0.26442	Intermediate filament, C-terminal (1);	0.438594	0.24909	N	0.034636	T	0.21427	0.0516	N	0.08118	0	0.09310	N	1	B	0.33637	0.42	P	0.44447	0.45	T	0.34428	-0.9829	9	0.12430	T	0.62	.	7.1361	0.25529	0.0:0.195:0.0:0.805	.	489	Q03252	LMNB2_HUMAN	G	489	.	ENSP00000327054:E489G	E	-	2	0	LMNB2	2383478	0.143000	0.22626	0.008000	0.14137	0.741000	0.42261	2.014000	0.40951	0.073000	0.16731	0.454000	0.30748	GAG	LMNB2	-	pfam_Lamin_tail_dom	ENSG00000176619		0.637	LMNB2-201	KNOWN	basic|appris_principal	protein_coding	LMNB2	HGNC	protein_coding		133	0.00	0	T	NM_032737		2432478	2432478	-1	no_errors	ENST00000325327	ensembl	human	known	69_37n	missense	164	11.23	21	SNP	0.017	C
LNX1	84708	genome.wustl.edu	37	4	54342967	54342967	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:54342967T>G	ENST00000263925.7	-	9	2159	c.1845A>C	c.(1843-1845)ccA>ccC	p.P615P	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Silent_p.P519P	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	615					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTCACTGGGTGGGGCCATGT	0.532																																						dbGAP											0													140.0	145.0	144.0					4																	54342967		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1845A>C	4.37:g.54342967T>G			Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.P615	ENST00000263925.7	37	c.1845	CCDS47057.1	4																																																																																			LNX1	-	superfamily_PDZ	ENSG00000072201		0.532	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	296	0.67	2	T			54342967	54342967	-1	no_errors	ENST00000263925	ensembl	human	known	69_37n	silent	204	10.92	25	SNP	0.001	G
SLCO4A1	28231	genome.wustl.edu	37	20	61297944	61297944	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:61297944A>C	ENST00000370507.1	+	6	1568				SLCO4A1_ENST00000470412.1_Intron|RP11-93B14.5_ENST00000433126.1_RNA|RP11-93B14.5_ENST00000411824.1_RNA|RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000217159.1_Intron			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GCCAGATGGCACCTGGGTACG	0.657																																					Pancreas(168;741 2006 10379 40139 45334)	dbGAP											0													71.0	68.0	69.0					20																	61297944		2203	4299	6502	-	-	-	SO:0001627	intron_variant	0			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1472+17A>C	20.37:g.61297944A>C			Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	RNA	SNP	-	NULL	ENST00000370507.1	37	NULL	CCDS13501.1	20																																																																																			RP11-93B14.5	-	-	ENSG00000232803		0.657	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100127888	Clone_based_vega_gene	protein_coding	OTTHUMT00000080048.2	32	0.00	0	A	NM_016354		61297944	61297944	-1	no_errors	ENST00000411824	ensembl	human	known	69_37n	rna	30	24.39	10	SNP	0.000	C
SPTBN5	51332	genome.wustl.edu	37	15	42185449	42185449	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:42185449T>G	ENST00000320955.6	-	2	444				RP11-23P13.6_ENST00000309874.2_RNA|RP11-23P13.6_ENST00000564432.2_RNA|RP11-23P13.6_ENST00000562920.1_RNA|RP11-23P13.6_ENST00000568861.1_RNA|RP11-23P13.7_ENST00000605942.1_lincRNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGGTATGGGTGGGCTGTGGG	0.612																																						dbGAP											0													37.0	39.0	39.0					15																	42185449		1944	4146	6090	-	-	-	SO:0001627	intron_variant	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.216+30A>C	15.37:g.42185449T>G				RNA	SNP	-	NULL	ENST00000320955.6	37	NULL		15																																																																																			RP11-23P13.6	-	-	ENSG00000174171		0.612	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	LOC100289090	Clone_based_vega_gene	protein_coding	OTTHUMT00000420237.1	54	0.00	0	T	NM_016642		42185449	42185449	+1	no_errors	ENST00000309874	ensembl	human	known	69_37n	rna	39	14.89	7	SNP	0.001	G
RFX4	5992	genome.wustl.edu	37	12	107075895	107075895	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:107075895A>C	ENST00000392842.1	+	5	791				RFX4_ENST00000357881.4_Intron|RP11-482D24.2_ENST00000547531.1_RNA|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_5'Flank	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						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						GACAGGCCACACCCTTGGCTC	0.572																																						dbGAP											0													47.0	51.0	50.0					12																	107075895		692	1591	2283	-	-	-	SO:0001627	intron_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.377+63A>C	12.37:g.107075895A>C			A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	RNA	SNP	-	NULL	ENST00000392842.1	37	NULL	CCDS9106.1	12																																																																																			RP11-482D24.2	-	-	ENSG00000257711		0.572	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100505978	Clone_based_vega_gene	protein_coding	OTTHUMT00000402707.1	91	0.00	0	A	NM_032491		107075895	107075895	-1	no_errors	ENST00000547531	ensembl	human	known	69_37n	rna	66	17.50	14	SNP	0.000	C
RPL36	25873	genome.wustl.edu	37	19	5693719	5693719	+	IGR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:5693719A>C	ENST00000577222.1	+	0	874				LONP1_ENST00000585374.1_Silent_p.G680G|LONP1_ENST00000593119.1_Silent_p.G730G|LONP1_ENST00000360614.3_Silent_p.G794G|LONP1_ENST00000540670.2_Silent_p.G598G|LONP1_ENST00000590729.1_Silent_p.G664G			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						CATCCTTGTCACCCTTGGCAT	0.617																																						dbGAP											0													121.0	89.0	100.0					19																	5693719		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5693719A>C			B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Silent	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.G794	ENST00000577222.1	37	c.2382	CCDS12147.1	19																																																																																			LONP1	-	pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Pept_S16_lon	ENSG00000196365		0.617	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000442561.1	102	0.94	1	A	NM_015414		5693719	5693719	-1	no_errors	ENST00000360614	ensembl	human	known	69_37n	silent	97	21.14	26	SNP	0.502	C
LONP1	9361	genome.wustl.edu	37	19	5700849	5700849	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:5700849A>C	ENST00000360614.3	-	9	1614	c.1457T>G	c.(1456-1458)gTg>gGg	p.V486G	LONP1_ENST00000585374.1_Missense_Mutation_p.V372G|LONP1_ENST00000593119.1_Missense_Mutation_p.V422G|LONP1_ENST00000540670.2_Missense_Mutation_p.V290G|LONP1_ENST00000590729.1_Missense_Mutation_p.V356G	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCCTCCAGCACTGCCTGTGC	0.617																																						dbGAP											0													222.0	141.0	169.0					19																	5700849		2203	4300	6503	-	-	-	SO:0001583	missense	0			U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1457T>G	19.37:g.5700849A>C	ENSP00000353826:p.Val486Gly			Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.V486G	ENST00000360614.3	37	c.1457	CCDS12148.1	19	.	.	.	.	.	.	.	.	.	.	A	23.8	4.458638	0.84317	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.22539	1.95;1.95	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	M	0.90425	3.115	0.80722	D	1	D;D;D	0.59357	0.985;0.957;0.985	P;P;P	0.56398	0.735;0.613;0.797	T	0.57648	-0.7775	10	0.87932	D	0	-44.0529	11.9092	0.52729	1.0:0.0:0.0:0.0	.	486;422;486	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	G	486;450;290	ENSP00000353826:V486G;ENSP00000441523:V290G	ENSP00000351177:V450G	V	-	2	0	LONP1	5651849	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.946000	0.92992	1.700000	0.51204	0.459000	0.35465	GTG	LONP1	-	pfam_Prk_AAA_dom,tigrfam_Pept_S16_lon	ENSG00000196365		0.617	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000451662.1	91	0.00	0	A	NM_004793		5700849	5700849	-1	no_errors	ENST00000360614	ensembl	human	known	69_37n	missense	95	13.64	15	SNP	1.000	C
GAPDHS	26330	genome.wustl.edu	37	19	36033789	36033789	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:36033789T>G	ENST00000222286.4	+	7	775				AD000090.2_ENST00000590717.1_RNA|AD000090.2_ENST00000590125.1_RNA|TMEM147_ENST00000392205.1_5'Flank|TMEM147_ENST00000222284.5_5'Flank|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000588286.1_RNA|TMEM147_ENST00000392204.2_5'Flank|AD000090.2_ENST00000589137.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic						carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	cytosol (GO:0005829)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity (GO:0004365)|NAD binding (GO:0051287)|NADP binding (GO:0050661)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGGGTAAGGGTGGAGGGGTGG	0.572																																						dbGAP											0													49.0	47.0	48.0					19																	36033789		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AJ005371	CCDS12465.1	19q13.1	2008-02-05		2005-05-06		ENSG00000105679			24864	protein-coding gene	gene with protein product		609169		GAPDS		10714828	Standard	NM_014364		Approved	GAPDH-2, GAPD2	uc002oaf.1	O14556		ENST00000222286.4:c.660-58T>G	19.37:g.36033789T>G			B2RC82|O60823|Q6JTT9|Q9HCU6	RNA	SNP	-	NULL	ENST00000222286.4	37	NULL	CCDS12465.1	19																																																																																			AD000090.2	-	-	ENSG00000236144		0.572	GAPDHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100506469	Clone_based_vega_gene	protein_coding	OTTHUMT00000460423.1	82	0.00	0	T	NM_014364		36033789	36033789	-1	no_errors	ENST00000588286	ensembl	human	known	69_37n	rna	48	22.22	14	SNP	0.000	G
LPAR1	1902	genome.wustl.edu	37	9	113637793	113637793	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:113637793T>G	ENST00000374431.3	-	5	1386	c.1003A>C	c.(1003-1005)Acc>Ccc	p.T335P	LPAR1_ENST00000358883.4_Missense_Mutation_p.T335P|LPAR1_ENST00000374430.2_Missense_Mutation_p.T335P|LPAR1_ENST00000538760.1_Missense_Mutation_p.T336P|LPAR1_ENST00000541779.1_Missense_Mutation_p.T336P	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	335					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|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 dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GTGGGGCCGGTGGGGTTCTCA	0.547																																					NSCLC(115;661 2323 9836 34256)	dbGAP											0													157.0	150.0	152.0					9																	113637793		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.1003A>C	9.37:g.113637793T>G	ENSP00000363553:p.Thr335Pro		B4DK36|O00656|O00722|P78351	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_7TM_GPCR_Rhodpsn	p.T336P	ENST00000374431.3	37	c.1006	CCDS6777.1	9	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942661	0.53079	.	.	ENSG00000198121	ENST00000374431;ENST00000541779;ENST00000374430;ENST00000358883;ENST00000449490;ENST00000538760	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	6.06	6.06	0.98353	.	0.143284	0.64402	D	0.000013	T	0.23014	0.0556	N	0.08118	0	0.23271	N	0.998001	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.19910	-1.0291	10	0.49607	T	0.09	.	15.7905	0.78357	0.0:0.0:0.0:1.0	.	336;336;335	B4DQ18;B4DK36;Q92633	.;.;LPAR1_HUMAN	P	335;336;335;335;317;336	ENSP00000363553:T335P;ENSP00000445697:T336P;ENSP00000363552:T335P;ENSP00000351755:T335P;ENSP00000440201:T336P	ENSP00000351755:T335P	T	-	1	0	LPAR1	112677614	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	6.263000	0.72521	2.324000	0.78689	0.533000	0.62120	ACC	LPAR1	-	prints_LPA_rcpt_EDG2	ENSG00000198121		0.547	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR1	HGNC	protein_coding	OTTHUMT00000053631.1	350	0.28	1	T	NM_057159		113637793	113637793	-1	no_errors	ENST00000538760	ensembl	human	known	69_37n	missense	221	10.89	27	SNP	1.000	G
PLPPR3	79948	genome.wustl.edu	37	19	815778	815778	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:815778A>C	ENST00000520876.3	-	3	227	c.149T>G	c.(148-150)gTg>gGg	p.V50G	LPPR3_ENST00000359894.2_Missense_Mutation_p.V50G|MIR3187_ENST00000583431.1_RNA	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		50						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										CTGGAAGCCCACCTTGGCCGG	0.602																																						dbGAP											0													81.0	57.0	65.0					19																	815778		2201	4300	6501	-	-	-	SO:0001583	missense	0																														ENST00000520876.3:c.149T>G	19.37:g.815778A>C	ENSP00000430297:p.Val50Gly		Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.V50G	ENST00000520876.3	37	c.149	CCDS58636.1	19	.	.	.	.	.	.	.	.	.	.	A	12.62	1.993332	0.35131	.	.	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876;ENST00000521445	T;T	0.50001	0.76;0.76	3.96	3.96	0.45880	.	0.077889	0.50627	U	0.000119	T	0.34424	0.0897	L	0.33485	1.01	0.80722	D	1	B;B	0.25272	0.026;0.122	B;B	0.24848	0.022;0.056	T	0.10823	-1.0613	10	0.22109	T	0.4	-21.0673	10.7921	0.46438	1.0:0.0:0.0:0.0	.	50;50	Q6T4P5;Q6T4P5-3	LPPR3_HUMAN;.	G	50	ENSP00000352962:V50G;ENSP00000430297:V50G	ENSP00000300947:V50G	V	-	2	0	AC006273.1	766778	1.000000	0.71417	1.000000	0.80357	0.560000	0.35617	4.233000	0.58651	1.441000	0.47550	0.260000	0.18958	GTG	hsa-mir-3187	-	superfamily_P_Acid_Pase_2/haloperoxidase	ENSG00000129951		0.602	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR3	miRBase	protein_coding	OTTHUMT00000379096.3	63	0.00	0	A			815778	815778	-1	no_errors	ENST00000359894	ensembl	human	known	69_37n	missense	41	14.58	7	SNP	1.000	C
LRBA	987	genome.wustl.edu	37	4	151749400	151749400	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:151749400T>G	ENST00000357115.3	-	30	5346	c.5103A>C	c.(5101-5103)ccA>ccC	p.P1701P	LRBA_ENST00000507224.1_Silent_p.P1701P|LRBA_ENST00000510413.1_Silent_p.P1701P|LRBA_ENST00000535741.1_Silent_p.P1701P	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1701						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGCAGGCTGGTGGCAGAAGGG	0.453																																						dbGAP											0													142.0	124.0	130.0					4																	151749400		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.5103A>C	4.37:g.151749400T>G			Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom	p.H354P	ENST00000357115.3	37	c.1061	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	T	10.58	1.389730	0.25118	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.72	-3.07	0.05363	.	.	.	.	.	T	0.48223	0.1488	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42649	-0.9439	4	.	.	.	.	5.866	0.18775	0.0:0.2631:0.2413:0.4956	.	.	.	.	P	354	.	.	H	-	2	0	LRBA	151968850	0.172000	0.23043	0.989000	0.46669	0.987000	0.75469	-0.580000	0.05827	-0.378000	0.07918	0.397000	0.26171	CAC	LRBA	-	NULL	ENSG00000198589		0.453	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	193	0.52	1	T			151749400	151749400	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000509835	ensembl	human	novel	69_37n	missense	107	18.94	25	SNP	0.973	G
LRCH1	23143	genome.wustl.edu	37	13	47127611	47127611	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:47127611A>C	ENST00000389798.3	+	1	277	c.80A>C	c.(79-81)cAc>cCc	p.H27P	LRCH1_ENST00000311191.6_Missense_Mutation_p.H27P|LRCH1_ENST00000389797.3_Missense_Mutation_p.H27P	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	27	His-rich.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CATCATCCccaccaccaccac	0.697																																						dbGAP											0													23.0	15.0	18.0					13																	47127611		1871	3623	5494	-	-	-	SO:0001583	missense	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.80A>C	13.37:g.47127611A>C	ENSP00000374448:p.His27Pro		B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.H27P	ENST00000389798.3	37	c.80	CCDS31972.1	13	.	.	.	.	.	.	.	.	.	.	A	14.31	2.497525	0.44455	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.56776	0.44;0.49;0.46	3.53	2.34	0.29019	.	.	.	.	.	T	0.41351	0.1155	L	0.36672	1.1	0.27592	N	0.949254	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.36311	-0.9753	9	0.59425	D	0.04	-3.3374	8.7689	0.34719	0.7916:0.2084:0.0:0.0	.	27;27;27;27	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	P	27	ENSP00000308493:H27P;ENSP00000374448:H27P;ENSP00000374447:H27P	ENSP00000308493:H27P	H	+	2	0	LRCH1	46025612	0.000000	0.05858	0.976000	0.42696	0.989000	0.77384	-0.423000	0.07034	0.434000	0.26340	0.482000	0.46254	CAC	LRCH1	-	NULL	ENSG00000136141		0.697	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	22	0.00	0	A	NM_015116		47127611	47127611	+1	no_errors	ENST00000389798	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	0.972	C
LRCH1	23143	genome.wustl.edu	37	13	47303080	47303080	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:47303080A>C	ENST00000389798.3	+	17	2060	c.1863A>C	c.(1861-1863)ccA>ccC	p.P621P	LRCH1_ENST00000311191.6_Silent_p.P621P|LRCH1_ENST00000389797.3_Silent_p.P656P	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	621	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACATCCGCCCACGGTCGGTTG	0.517																																						dbGAP											0													121.0	108.0	112.0					13																	47303080		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.1863A>C	13.37:g.47303080A>C			B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.P621	ENST00000389798.3	37	c.1863	CCDS31972.1	13																																																																																			LRCH1	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000136141		0.517	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	163	0.00	0	A	NM_015116		47303080	47303080	+1	no_errors	ENST00000389798	ensembl	human	known	69_37n	silent	124	12.59	18	SNP	0.111	C
LRCH3	84859	genome.wustl.edu	37	3	197562545	197562545	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:197562545T>G	ENST00000425562.2	+	9	1103	c.1103T>G	c.(1102-1104)gTg>gGg	p.V368G	LRCH3_ENST00000438796.2_Splice_Site_p.V368G|LRCH3_ENST00000441090.2_Splice_Site_p.V242G|LRCH3_ENST00000334859.4_Splice_Site_p.V368G|LRCH3_ENST00000414675.2_Splice_Site_p.V368G|LRCH3_ENST00000536618.1_5'UTR			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	368						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		gtgtATACAGTGGAACATGAT	0.463																																						dbGAP											0													91.0	75.0	80.0					3																	197562545		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1103-1T>G	3.37:g.197562545T>G			B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.V368G	ENST00000425562.2	37	c.1103		3	.	.	.	.	.	.	.	.	.	.	T	6.069	0.380986	0.11466	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.31247	2.09;1.5;2.08;2.34;2.12	5.32	-0.459	0.12179	.	0.388977	0.25648	N	0.029235	T	0.16085	0.0387	N	0.20986	0.625	0.80722	D	1	B;B;B;B	0.11235	0.003;0.002;0.004;0.001	B;B;B;B	0.11329	0.003;0.005;0.006;0.005	T	0.11179	-1.0598	9	.	.	.	.	8.3325	0.32195	0.0:0.0679:0.3808:0.5513	.	242;368;368;368	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	G	368;242;368;368;368	ENSP00000399751:V368G;ENSP00000394609:V242G;ENSP00000394965:V368G;ENSP00000334375:V368G;ENSP00000393579:V368G	.	V	+	2	0	LRCH3	199046942	1.000000	0.71417	0.638000	0.29380	0.515000	0.34225	1.879000	0.39618	0.066000	0.16515	0.472000	0.43445	GTG	LRCH3	-	NULL	ENSG00000186001		0.463	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	HGNC	protein_coding	OTTHUMT00000339965.1	93	0.00	0	T	NM_032773	Missense_Mutation	197562545	197562545	+1	no_errors	ENST00000438796	ensembl	human	known	69_37n	missense	72	12.20	10	SNP	1.000	G
LRP1	4035	genome.wustl.edu	37	12	57598231	57598231	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:57598231A>C	ENST00000243077.3	+	71	11456	c.10990A>C	c.(10990-10992)Acc>Ccc	p.T3664P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3664	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGCAACAACACCTTGTGCAA	0.617																																						dbGAP											0													86.0	82.0	83.0					12																	57598231		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10990A>C	12.37:g.57598231A>C	ENSP00000243077:p.Thr3664Pro		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.T3664P	ENST00000243077.3	37	c.10990	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	A	19.26	3.793470	0.70452	.	.	ENSG00000123384	ENST00000243077	D	0.95554	-3.74	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.96558	0.8877	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96478	0.9354	10	0.49607	T	0.09	.	14.308	0.66397	1.0:0.0:0.0:0.0	.	3664	Q07954	LRP1_HUMAN	P	3664	ENSP00000243077:T3664P	ENSP00000243077:T3664P	T	+	1	0	LRP1	55884498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.108000	0.71522	2.207000	0.71202	0.456000	0.33151	ACC	LRP1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000123384		0.617	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	147	0.66	1	A	NM_002332		57598231	57598231	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	missense	75	17.58	16	SNP	1.000	C
LRP2	4036	genome.wustl.edu	37	2	170062882	170062882	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:170062882T>G	ENST00000263816.3	-	39	7633	c.7348A>C	c.(7348-7350)Acc>Ccc	p.T2450P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2450					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GAAGACAGGGTGGCATAGGAA	0.453																																						dbGAP											0													71.0	75.0	73.0					2																	170062882		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7348A>C	2.37:g.170062882T>G	ENSP00000263816:p.Thr2450Pro		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.T2450P	ENST00000263816.3	37	c.7348	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	T	14.68	2.607702	0.46527	.	.	ENSG00000081479	ENST00000263816	D	0.92348	-3.02	5.96	5.96	0.96718	Six-bladed beta-propeller, TolB-like (1);	0.252164	0.56097	D	0.000039	D	0.84156	0.5410	N	0.04746	-0.17	0.80722	D	1	B	0.19200	0.034	B	0.22152	0.038	T	0.79659	-0.1711	10	0.36615	T	0.2	.	16.4484	0.83959	0.0:0.0:0.0:1.0	.	2450	P98164	LRP2_HUMAN	P	2450	ENSP00000263816:T2450P	ENSP00000263816:T2450P	T	-	1	0	LRP2	169771128	1.000000	0.71417	0.050000	0.19076	0.555000	0.35460	5.951000	0.70273	2.285000	0.76669	0.533000	0.62120	ACC	LRP2	-	smart_LDLR_classB_rpt	ENSG00000081479		0.453	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	128	0.00	0	T	NM_004525		170062882	170062882	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	missense	112	18.84	26	SNP	0.971	G
LRP4	4038	genome.wustl.edu	37	11	46916322	46916322	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:46916322A>C	ENST00000378623.1	-	12	1600	c.1358T>G	c.(1357-1359)gTg>gGg	p.V453G		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	453					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTGTGGCAGCACCTGCCGGAT	0.567																																						dbGAP											0													106.0	104.0	105.0					11																	46916322		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.1358T>G	11.37:g.46916322A>C	ENSP00000367888:p.Val453Gly		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.V453G	ENST00000378623.1	37	c.1358	CCDS31478.1	11	.	.	.	.	.	.	.	.	.	.	A	26.5	4.743919	0.89663	.	.	ENSG00000134569	ENST00000378623	D	0.91686	-2.89	5.49	5.49	0.81192	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.94434	0.8209	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.94942	0.8092	10	0.66056	D	0.02	.	15.5998	0.76616	1.0:0.0:0.0:0.0	.	453	O75096	LRP4_HUMAN	G	453	ENSP00000367888:V453G	ENSP00000367888:V453G	V	-	2	0	LRP4	46872898	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.957000	0.93082	2.074000	0.62210	0.533000	0.62120	GTG	LRP4	-	superfamily_Growth_fac_rcpt	ENSG00000134569		0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	HGNC	protein_coding	OTTHUMT00000391133.1	160	0.61	1	A	NM_002334		46916322	46916322	-1	no_errors	ENST00000378623	ensembl	human	known	69_37n	missense	74	18.28	17	SNP	1.000	C
LRRC15	131578	genome.wustl.edu	37	3	194080849	194080849	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:194080849T>G	ENST00000347624.3	-	2	1009	c.924A>C	c.(922-924)ctA>ctC	p.L308L	LRRC15_ENST00000428839.1_Silent_p.L314L|LRRC15_ENST00000439944.2_Silent_p.L314L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	308					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CATTGTCGGGTAGAGAAGAGA	0.562																																						dbGAP											0													55.0	59.0	57.0					3																	194080849		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.924A>C	3.37:g.194080849T>G			Q495Q6|Q7RTN7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L314	ENST00000347624.3	37	c.942	CCDS3306.1	3																																																																																			LRRC15	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000172061		0.562	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	HGNC	protein_coding	OTTHUMT00000342858.2	165	0.00	0	T			194080849	194080849	-1	no_errors	ENST00000439944	ensembl	human	known	69_37n	silent	79	21.00	21	SNP	0.002	G
LRRC8E	80131	genome.wustl.edu	37	19	7964327	7964327	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:7964327A>C	ENST00000306708.6	+	3	1021	c.920A>C	c.(919-921)cAc>cCc	p.H307P	AC010336.1_ENST00000539278.1_3'UTR|RN7SL115P_ENST00000392196.5_RNA	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	307					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						ACCAAGGCCCACCTCTTCTCC	0.562																																						dbGAP											0													101.0	84.0	90.0					19																	7964327		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12189.1	19p13.2	2008-02-05				ENSG00000171017			26272	protein-coding gene	gene with protein product		612891				12477932	Standard	NM_025061		Approved	FLJ23420	uc002mir.3	Q6NSJ5		ENST00000306708.6:c.920A>C	19.37:g.7964327A>C	ENSP00000306524:p.His307Pro		B3KR78|Q2YDY3|Q7L236|Q8N3B0|Q9H5H8	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.H307P	ENST00000306708.6	37	c.920	CCDS12189.1	19	.	.	.	.	.	.	.	.	.	.	A	16.43	3.122186	0.56613	.	.	ENSG00000171017	ENST00000306708	T	0.42131	0.98	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.33876	0.0878	L	0.38838	1.175	0.58432	D	0.999996	B	0.24920	0.114	B	0.21546	0.035	T	0.11842	-1.0571	10	0.40728	T	0.16	.	12.9558	0.58427	1.0:0.0:0.0:0.0	.	307	Q6NSJ5	LRC8E_HUMAN	P	307	ENSP00000306524:H307P	ENSP00000306524:H307P	H	+	2	0	LRRC8E	7870327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.133000	0.94460	2.160000	0.67779	0.528000	0.53228	CAC	LRRC8E	-	NULL	ENSG00000171017		0.562	LRRC8E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8E	HGNC	protein_coding	OTTHUMT00000461354.1	129	0.75	1	A	NM_025061		7964327	7964327	+1	no_errors	ENST00000306708	ensembl	human	known	69_37n	missense	103	16.94	21	SNP	1.000	C
LSS	4047	genome.wustl.edu	37	21	47611025	47611025	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:47611025T>G	ENST00000397728.3	-	22	2270	c.2192A>C	c.(2191-2193)cAc>cCc	p.H731P	LSS_ENST00000356396.4_Missense_Mutation_p.H731P|AP001468.58_ENST00000415026.1_RNA|LSS_ENST00000457828.2_Missense_Mutation_p.H651P|LSS_ENST00000522411.1_Missense_Mutation_p.H720P	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	731					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TTCTCAGGGGTGGCCAGCAAG	0.627																																					Pancreas(114;955 2313 34923 50507)	dbGAP											0													76.0	78.0	77.0					21																	47611025		2203	4300	6503	-	-	-	SO:0001583	missense	0			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.2192A>C	21.37:g.47611025T>G	ENSP00000380837:p.His731Pro		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Missense_Mutation	SNP	pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase	p.H731P	ENST00000397728.3	37	c.2192	CCDS13733.1	21	.	.	.	.	.	.	.	.	.	.	T	13.02	2.112183	0.37242	.	.	ENSG00000160285	ENST00000356396;ENST00000457828;ENST00000397728;ENST00000522411	T;T;T;T	0.13657	2.57;2.57;2.57;2.57	4.47	-5.92	0.02261	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.787753	0.12562	N	0.458051	T	0.07458	0.0188	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25502	-1.0130	10	0.66056	D	0.02	.	8.2978	0.31995	0.0:0.4629:0.1389:0.3982	.	720;731	E9PEI9;P48449	.;ERG7_HUMAN	P	731;651;731;720	ENSP00000348762:H731P;ENSP00000409191:H651P;ENSP00000380837:H731P;ENSP00000429133:H720P	ENSP00000348762:H731P	H	-	2	0	LSS	46435453	0.763000	0.28462	0.000000	0.03702	0.086000	0.17979	-0.286000	0.08399	-1.300000	0.02341	-0.356000	0.07607	CAC	LSS	-	superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000160285		0.627	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	145	0.68	1	T			47611025	47611025	-1	no_errors	ENST00000356396	ensembl	human	known	69_37n	missense	87	12.12	12	SNP	0.000	G
LSS	4047	genome.wustl.edu	37	21	47647420	47647420	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:47647420T>G	ENST00000397728.3	-	3	398				MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|LSS_ENST00000356396.4_Intron|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA|LSS_ENST00000457828.2_Intron|MCM3AP-AS1_ENST00000420074.1_RNA|LSS_ENST00000464357.1_Intron|LSS_ENST00000522411.1_Intron|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)						cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					ATCCCAAGGGTGATCCAGGGT	0.572																																					Pancreas(114;955 2313 34923 50507)	dbGAP											0													54.0	43.0	47.0					21																	47647420		2201	4299	6500	-	-	-	SO:0001627	intron_variant	0			U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.319+45A>C	21.37:g.47647420T>G			B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	RNA	SNP	-	NULL	ENST00000397728.3	37	NULL	CCDS13733.1	21																																																																																			LSS	-	-	ENSG00000160285		0.572	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSS	HGNC	protein_coding	OTTHUMT00000207274.2	99	0.98	1	T			47647420	47647420	-1	no_errors	ENST00000472272	ensembl	human	known	69_37n	rna	73	25.51	25	SNP	0.000	G
LTBP2	4053	genome.wustl.edu	37	14	75019649	75019649	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:75019649T>G	ENST00000261978.4	-	5	1524	c.1138A>C	c.(1138-1140)Acc>Ccc	p.T380P	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.T380P|CTD-2207P18.1_ENST00000554552.1_lincRNA	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	380					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)		CTGTACAGGGTGGTGGTGTCG	0.592																																						dbGAP											0													86.0	63.0	71.0					14																	75019649		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.1138A>C	14.37:g.75019649T>G	ENSP00000261978:p.Thr380Pro		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.T380P	ENST00000261978.4	37	c.1138	CCDS9831.1	14	.	.	.	.	.	.	.	.	.	.	t	26.4	4.729344	0.89390	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.84516	-1.83;-1.86	4.83	4.83	0.62350	.	0.000000	0.43110	D	0.000609	D	0.91307	0.7259	M	0.76574	2.34	0.37852	D	0.929438	D	0.76494	0.999	D	0.83275	0.996	D	0.93052	0.6466	10	0.59425	D	0.04	.	13.1447	0.59454	0.0:0.0:0.0:1.0	.	380	Q14767	LTBP2_HUMAN	P	380	ENSP00000261978:T380P;ENSP00000451477:T380P	ENSP00000261978:T380P	T	-	1	0	LTBP2	74089402	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.674000	0.68117	2.037000	0.60232	0.449000	0.29647	ACC	LTBP2	-	NULL	ENSG00000119681		0.592	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	103	0.94	1	T	NM_000428		75019649	75019649	-1	no_errors	ENST00000261978	ensembl	human	known	69_37n	missense	53	25.00	18	SNP	1.000	G
LYNX1	66004	genome.wustl.edu	37	8	143856635	143856635	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:143856635T>G	ENST00000335822.5	-	3	782				LYNX1_ENST00000523332.1_Intron|LYNX1_ENST00000522906.1_5'Flank|LYNX1_ENST00000395192.2_Missense_Mutation_p.T101P|LYNX1_ENST00000345173.6_Missense_Mutation_p.T101P|LYNX1_ENST00000398906.1_Missense_Mutation_p.T101P	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1							anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGGGCCAGGGTGGCCGGGGTG	0.637																																						dbGAP											0													47.0	44.0	45.0					8																	143856635		2201	4300	6501	-	-	-	SO:0001627	intron_variant	0			AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.154+375A>C	8.37:g.143856635T>G			D3DWI7|G3XAC2|Q86SR0	Missense_Mutation	SNP	pfam_LY6_UPAR,smart_LY6_UPA_recep-like	p.T101P	ENST00000335822.5	37	c.301	CCDS34951.1	8	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473499	0.26423	.	.	ENSG00000180155	ENST00000395192;ENST00000398906;ENST00000345173	T;T;T	0.23950	1.88;1.88;1.88	4.6	-9.2	0.00682	Ly-6 antigen / uPA receptor -like (1);	.	.	.	.	T	0.14270	0.0345	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29882	-0.9997	9	0.56958	D	0.05	.	4.445	0.11593	0.0988:0.4966:0.1992:0.2053	.	101	Q9BZG9	LYNX1_HUMAN	P	101	ENSP00000378618:T101P;ENSP00000381878:T101P;ENSP00000332495:T101P	ENSP00000332495:T101P	T	-	1	0	LYNX1	143853637	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.665000	0.00848	-2.294000	0.00663	-0.408000	0.06270	ACC	LYNX1	-	smart_LY6_UPA_recep-like	ENSG00000180155		0.637	LYNX1-001	KNOWN	basic|CCDS	protein_coding	LYNX1	HGNC	protein_coding	OTTHUMT00000379786.3	58	0.00	0	T	NM_177476		143856635	143856635	-1	no_errors	ENST00000345173	ensembl	human	known	69_37n	missense	35	22.22	10	SNP	0.000	G
LYVE1	10894	genome.wustl.edu	37	11	10585615	10585615	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:10585615A>C	ENST00000256178.3	-	3	427	c.269T>G	c.(268-270)gTt>gGt	p.V90G	LYVE1_ENST00000529598.1_Intron|MRVI1-AS1_ENST00000529829.1_RNA|LYVE1_ENST00000531706.1_5'UTR|MRVI1-AS1_ENST00000529979.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	90	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		TCCATCTCCAACCCAGCCATA	0.443																																						dbGAP											0													70.0	66.0	67.0					11																	10585615		2201	4294	6495	-	-	-	SO:0001583	missense	0			AF118108	CCDS7804.1	11p15	2008-02-05	2007-06-26	2007-06-26		ENSG00000133800			14687	protein-coding gene	gene with protein product		605702	"""extracellular link domain containing 1"""	XLKD1		10037799, 12554094	Standard	NM_006691		Approved	LYVE-1	uc001miv.2	Q9Y5Y7		ENST00000256178.3:c.269T>G	11.37:g.10585615A>C	ENSP00000256178:p.Val90Gly		Q8TC18|Q9UNF4	Missense_Mutation	SNP	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link	p.V90G	ENST00000256178.3	37	c.269	CCDS7804.1	11	.	.	.	.	.	.	.	.	.	.	A	14.55	2.568859	0.45798	.	.	ENSG00000133800	ENST00000256178	T	0.08984	3.03	5.32	5.32	0.75619	C-type lectin fold (1);Link (4);C-type lectin-like (1);	0.304603	0.32819	N	0.005612	T	0.30008	0.0751	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.02933	-1.1092	10	0.87932	D	0	-12.8439	14.5514	0.68070	1.0:0.0:0.0:0.0	.	90	Q9Y5Y7	LYVE1_HUMAN	G	90	ENSP00000256178:V90G	ENSP00000256178:V90G	V	-	2	0	LYVE1	10542191	1.000000	0.71417	0.915000	0.36163	0.006000	0.05464	5.630000	0.67805	2.141000	0.66446	0.459000	0.35465	GTT	LYVE1	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link	ENSG00000133800		0.443	LYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYVE1	HGNC	protein_coding	OTTHUMT00000385893.1	141	0.00	0	A	NM_016164		10585615	10585615	-1	no_errors	ENST00000256178	ensembl	human	known	69_37n	missense	107	17.69	23	SNP	0.983	C
MACF1	23499	genome.wustl.edu	37	1	39896408	39896408	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:39896408T>G	ENST00000372915.3	+	64	16940	c.16853T>G	c.(16852-16854)gTg>gGg	p.V5618G	MACF1_ENST00000361689.2_Missense_Mutation_p.V3660G|MACF1_ENST00000545844.1_Missense_Mutation_p.V3660G|MACF1_ENST00000539005.1_Missense_Mutation_p.V3530G|MACF1_ENST00000317713.7_Missense_Mutation_p.V3660G|MACF1_ENST00000564288.1_Missense_Mutation_p.V5722G|MACF1_ENST00000567887.1_Missense_Mutation_p.V5759G|MACF1_ENST00000289893.4_Missense_Mutation_p.V4162G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5618					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CACAGGCTGGTGTTGGACACA	0.507																																						dbGAP											0													86.0	79.0	82.0					1																	39896408		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16853T>G	1.37:g.39896408T>G	ENSP00000362006:p.Val5618Gly		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.V3660G	ENST00000372915.3	37	c.10979		1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928896	0.73327	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	T;T;T;T;T;T	0.64803	-0.12;1.32;-0.12;1.32;0.06;1.04	5.3	5.3	0.74995	.	0.000000	0.53938	D	0.000054	T	0.70020	0.3176	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.986;0.986	T	0.73849	-0.3853	10	0.72032	D	0.01	.	15.5395	0.76031	0.0:0.0:0.0:1.0	.	5618;3660;3604	Q9UPN3;F8W8Q1;Q9UPN3-3	MACF1_HUMAN;.;.	G	3660;5618;3660;3660;3530;4162	ENSP00000439537:V3660G;ENSP00000362006:V5618G;ENSP00000354573:V3660G;ENSP00000313438:V3660G;ENSP00000444364:V3530G;ENSP00000289893:V4162G	ENSP00000289893:V4162G	V	+	2	0	MACF1	39668995	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.249000	0.72427	2.129000	0.65627	0.533000	0.62120	GTG	MACF1	-	smart_Spectrin/alpha-actinin	ENSG00000127603		0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	134	0.00	0	T	NM_033044		39896408	39896408	+1	no_errors	ENST00000317713	ensembl	human	known	69_37n	missense	90	20.35	23	SNP	1.000	G
MAD1L1	8379	genome.wustl.edu	37	7	1937861	1937861	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:1937861T>G	ENST00000406869.1	-	18	2530	c.1973A>C	c.(1972-1974)cAc>cCc	p.H658P	MAD1L1_ENST00000402746.1_Missense_Mutation_p.H566P|MAD1L1_ENST00000399654.2_Missense_Mutation_p.H658P|MAD1L1_ENST00000265854.7_Missense_Mutation_p.H658P			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	658					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTCGCCTGGGTGCTCGGCGTA	0.627																																						dbGAP											0													98.0	119.0	112.0					7																	1937861		2176	4273	6449	-	-	-	SO:0001583	missense	0			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1973A>C	7.37:g.1937861T>G	ENSP00000385334:p.His658Pro		B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	pfam_MAD	p.H658P	ENST00000406869.1	37	c.1973	CCDS43539.1	7	.	.	.	.	.	.	.	.	.	.	T	13.97	2.395270	0.42512	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235;ENST00000437877	T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86	5.59	1.95	0.26073	.	0.159298	0.56097	D	0.000028	T	0.36220	0.0959	L	0.61218	1.895	0.44780	D	0.997785	D;D;D	0.60575	0.973;0.988;0.96	P;P;P	0.57846	0.828;0.828;0.765	T	0.03818	-1.1001	10	0.32370	T	0.25	-23.9668	8.2439	0.31675	0.0:0.2215:0.0:0.7785	.	657;566;658	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	P	566;658;658;209;658;209;114	ENSP00000384155:H566P;ENSP00000382562:H658P;ENSP00000385334:H658P;ENSP00000265854:H658P;ENSP00000394886:H209P;ENSP00000394069:H114P	ENSP00000265854:H658P	H	-	2	0	MAD1L1	1904387	1.000000	0.71417	0.804000	0.32291	0.019000	0.09904	1.489000	0.35562	0.094000	0.17404	-0.250000	0.11733	CAC	MAD1L1	-	pfam_MAD	ENSG00000002822		0.627	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAD1L1	HGNC	protein_coding	OTTHUMT00000322871.1	218	0.91	2	T	NM_003550		1937861	1937861	-1	no_errors	ENST00000265854	ensembl	human	known	69_37n	missense	121	21.43	33	SNP	1.000	G
MADD	8567	genome.wustl.edu	37	11	47317507	47317507	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:47317507T>G	ENST00000311027.5	+	24	3825	c.3660T>G	c.(3658-3660)ggT>ggG	p.G1220G	MADD_ENST00000342922.4_Silent_p.G1182G|MADD_ENST00000402799.1_Silent_p.G1139G|MADD_ENST00000405573.2_Silent_p.G30G|MADD_ENST00000407859.3_Silent_p.G1159G|MADD_ENST00000349238.3_Silent_p.G1202G|MADD_ENST00000395344.3_Silent_p.G1135G|MADD_ENST00000395336.3_Silent_p.G1220G|MADD_ENST00000406482.1_Silent_p.G1139G|MADD_ENST00000402192.2_Silent_p.G1181G	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)		GCAATGCAGGTGATGGACCAG	0.517																																						dbGAP											0													131.0	133.0	133.0					11																	47317507		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.3660T>G	11.37:g.47317507T>G				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.G1220	ENST00000311027.5	37	c.3660	CCDS7930.1	11																																																																																			MADD	-	NULL	ENSG00000110514		0.517	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	240	0.41	1	T			47317507	47317507	+1	no_errors	ENST00000311027	ensembl	human	known	69_37n	silent	157	12.78	23	SNP	0.988	G
MAF1	84232	genome.wustl.edu	37	8	145161369	145161369	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:145161369T>G	ENST00000322428.5	+	5	904		c.e5+2		KIAA1875_ENST00000323662.8_5'Flank|SHARPIN_ENST00000533948.1_5'Flank|SHARPIN_ENST00000398712.2_5'Flank|MAF1_ENST00000532522.1_Splice_Site|MAF1_ENST00000534585.1_Missense_Mutation_p.W168G	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)						negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATCTACAGGTGGGCCGGCAT	0.587																																						dbGAP											0													121.0	93.0	102.0					8																	145161369		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.500+2T>G	8.37:g.145161369T>G			D3DWL4	Splice_Site	SNP	-	e4+2	ENST00000322428.5	37	c.500+2	CCDS6416.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.37|19.37	3.814651|3.814651	0.70912|0.70912	.|.	.|.	ENSG00000179632|ENSG00000179632	ENST00000322428;ENST00000532522|ENST00000534585;ENST00000527058	.|T	.|0.43294	.|0.95	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50240	.|0.1604	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.46456	.|-0.9190	.|5	.|.	.|.	.|.	.|.	11.6278|11.6278	0.51156|0.51156	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|G	-1|168	.|ENSP00000433979:W168G	.|.	.|W	+|+	.|1	.|0	MAF1|MAF1	145233357|145233357	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.975000|0.975000	0.68041|0.68041	5.330000|5.330000	0.65899|0.65899	2.017000|2.017000	0.59298|0.59298	0.533000|0.533000	0.62120|0.62120	.|TGG	MAF1	-	-	ENSG00000179632		0.587	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAF1	HGNC	protein_coding	OTTHUMT00000382910.1	114	0.00	0	T	NM_032272	Intron	145161369	145161369	+1	no_errors	ENST00000322428	ensembl	human	known	69_37n	splice_site	128	11.72	17	SNP	1.000	G
MAF1	84232	genome.wustl.edu	37	8	145161923	145161923	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:145161923T>G	ENST00000322428.5	+	7	1153				KIAA1875_ENST00000323662.8_5'Flank|SHARPIN_ENST00000533948.1_5'Flank|SHARPIN_ENST00000398712.2_5'Flank|MAF1_ENST00000532522.1_Intron|MAF1_ENST00000534585.1_Intron	NM_032272.4	NP_115648.2	Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)						negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)			central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TACAACAGGGTGGGGGCCTCC	0.627																																						dbGAP											0													45.0	58.0	54.0					8																	145161923		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS6416.1	8q24.3	2012-10-29			ENSG00000179632	ENSG00000179632			24966	protein-coding gene	gene with protein product		610210				11230166, 11438659	Standard	NM_032272		Approved	DKFZp586G1123	uc003zbc.1	Q9H063	OTTHUMG00000165244	ENST00000322428.5:c.749+57T>G	8.37:g.145161923T>G			D3DWL4	Missense_Mutation	SNP	pfam_Maf1	p.V87G	ENST00000322428.5	37	c.260	CCDS6416.1	8	.	.	.	.	.	.	.	.	.	.	T	1.069	-0.670483	0.03403	.	.	ENSG00000179632	ENST00000534811	T	0.55052	0.54	4.08	-2.49	0.06403	.	.	.	.	.	T	0.30135	0.0755	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.23691	-1.0181	5	.	.	.	.	1.3212	0.02116	0.1814:0.1044:0.3204:0.3938	.	.	.	.	G	87	ENSP00000436639:V87G	.	V	+	2	0	MAF1	145233911	0.000000	0.05858	0.000000	0.03702	0.228000	0.25075	0.214000	0.17541	-0.115000	0.11915	-0.313000	0.08912	GTG	MAF1	-	NULL	ENSG00000179632		0.627	MAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAF1	HGNC	protein_coding	OTTHUMT00000382910.1	127	0.76	1	T	NM_032272		145161923	145161923	+1	no_start_codon	ENST00000534811	ensembl	human	putative	69_37n	missense	78	24.27	25	SNP	0.000	G
MAGED2	10916	genome.wustl.edu	37	X	54834237	54834237	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:54834237T>G	ENST00000375068.1	+	1	204		c.e1+2		MAGED2_ENST00000375058.1_5'Flank|MAGED2_ENST00000375060.1_5'Flank|MAGED2_ENST00000347546.4_Splice_Site|MAGED2_ENST00000396224.1_5'Flank|MAGED2_ENST00000218439.4_5'Flank|MAGED2_ENST00000375062.4_Splice_Site|MAGED2_ENST00000375053.2_Splice_Site			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2							membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GAGGACAAGGTGAGGGGCGTT	0.562																																						dbGAP											0													40.0	42.0	41.0					X																	54834237		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.-30+2T>G	X.37:g.54834237T>G			A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Splice_Site	SNP	-	e0+2	ENST00000375068.1	37	c.1+2	CCDS14362.1	X																																																																																			MAGED2	-	-	ENSG00000102316		0.562	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGED2	HGNC	protein_coding	OTTHUMT00000056821.2	93	0.00	0	T	NM_014599	Intron	54834237	54834237	+1	no_errors	ENST00000375053	ensembl	human	known	69_37n	splice_site	41	25.45	14	SNP	0.795	G
MAGI1	9223	genome.wustl.edu	37	3	65376920	65376920	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:65376920T>G	ENST00000497477.2	-	14	2312	c.2313A>C	c.(2311-2313)ccA>ccC	p.P771P	MAGI1_ENST00000483466.1_Silent_p.P771P|MAGI1_ENST00000330909.8_Silent_p.P771P|MAGI1_ENST00000402939.2_Silent_p.P771P			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	771					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)		CCTCTGCAGGTGGGAACTCGG	0.537																																						dbGAP											0													118.0	106.0	110.0					3																	65376920		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2313A>C	3.37:g.65376920T>G			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_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,smart_PDZ,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.H652P	ENST00000497477.2	37	c.1955		3	.	.	.	.	.	.	.	.	.	.	T	8.659	0.900011	0.17686	.	.	ENSG00000151276	ENST00000460329	.	.	.	5.98	3.49	0.39957	.	.	.	.	.	T	0.44286	0.1286	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38735	-0.9647	4	.	.	.	-0.7714	1.6478	0.02765	0.3077:0.0848:0.1257:0.4818	.	.	.	.	P	652	.	.	H	-	2	0	MAGI1	65351960	0.983000	0.35010	1.000000	0.80357	0.852000	0.48524	0.965000	0.29319	1.094000	0.41399	-0.296000	0.09543	CAC	MAGI1	-	NULL	ENSG00000151276		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	157	0.00	0	T	NM_004742		65376920	65376920	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000460329	ensembl	human	putative	69_37n	missense	177	13.66	28	SNP	0.998	G
MAGI1	9223	genome.wustl.edu	37	3	65416463	65416463	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:65416463A>C	ENST00000497477.2	-	11	1456	c.1457T>G	c.(1456-1458)gTg>gGg	p.V486G	MAGI1_ENST00000483466.1_Missense_Mutation_p.V486G|MAGI1_ENST00000330909.8_Missense_Mutation_p.V486G|MAGI1_ENST00000402939.2_Missense_Mutation_p.V486G|MAGI1_ENST00000470990.1_5'UTR			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	486	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCCTCCAACCACCGTGAAGCC	0.488																																						dbGAP											0													166.0	141.0	150.0					3																	65416463		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.1457T>G	3.37:g.65416463A>C	ENSP00000424369:p.Val486Gly		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.V486G	ENST00000497477.2	37	c.1457		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.1|22.1	4.247772|4.247772	0.80024|0.80024	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257|ENST00000460329	T;T;T;T;T;T|.	0.52983|.	0.64;0.64;0.64;0.64;0.64;0.64|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77844|0.77844	0.4191|0.4191	M|M	0.81614|0.81614	2.55|2.55	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.987;1.0;0.999;1.0|.	D;P;D;D;D|.	0.97110|.	1.0;0.863;1.0;0.995;0.988|.	T|T	0.79102|0.79102	-0.1941|-0.1941	10|5	0.87932|.	D|.	0|.	-16.9862|-16.9862	16.2948|16.2948	0.82765|0.82765	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	486;486;486;486;486|.	Q96QZ7-6;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;.;.;.;.|.	G|G	486;486;382;361;486;486;272|367	ENSP00000385450:V486G;ENSP00000331157:V486G;ENSP00000418177:V361G;ENSP00000420323:V486G;ENSP00000424369:V486G;ENSP00000420796:V272G|.	ENSP00000331157:V486G|.	V|W	-|-	2|1	0|0	MAGI1|MAGI1	65391503|65391503	1.000000|1.000000	0.71417|0.71417	0.548000|0.548000	0.28192|0.28192	0.608000|0.608000	0.37181|0.37181	9.276000|9.276000	0.95745|0.95745	2.253000|2.253000	0.74438|0.74438	0.455000|0.455000	0.32223|0.32223	GTG|TGG	MAGI1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000151276		0.488	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1	HGNC	protein_coding	OTTHUMT00000349132.2	165	0.00	0	A	NM_004742		65416463	65416463	-1	no_errors	ENST00000402939	ensembl	human	known	69_37n	missense	152	14.61	26	SNP	0.997	C
MAP3K14-AS1	100133991	genome.wustl.edu	37	17	43343887	43343887	+	RNA	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:43343887T>G	ENST00000585780.1	+	0	1615				MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000585346.1_RNA					MAP3K14 antisense RNA 1																		GCTGAGCAGGTGGGAATTGGA	0.627																																						dbGAP											0													84.0	93.0	90.0					17																	43343887		1968	4149	6117	-	-	-			0			AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43343887T>G				Splice_Site	SNP	-	NULL	ENST00000585780.1	37	c.NULL		17																																																																																			MAP3K14-AS1	-	-	ENSG00000267278		0.627	MAP3K14-AS1-008	KNOWN	basic	antisense	MAP3K14-AS1	HGNC	antisense	OTTHUMT00000450941.1	66	0.00	0	T	NR_024434		43343887	43343887	+1	no_errors	ENST00000585351	ensembl	human	known	69_37n	splice_site	32	28.89	13	SNP	0.000	G
MAP3K5	4217	genome.wustl.edu	37	6	137041664	137041664	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:137041664A>C	ENST00000359015.4	-	2	872	c.512T>G	c.(511-513)gTg>gGg	p.V171G		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	171					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ACTTTCTCTCACCCCAAGGTG	0.483																																						dbGAP											0													197.0	160.0	172.0					6																	137041664		2203	4300	6503	-	-	-	SO:0001583	missense	0			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.512T>G	6.37:g.137041664A>C	ENSP00000351908:p.Val171Gly		A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V171G	ENST00000359015.4	37	c.512	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	A	28.0	4.883806	0.91814	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.20463	2.07	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	M	0.83223	2.63	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.998	T	0.50651	-0.8803	10	0.87932	D	0	.	16.3871	0.83514	1.0:0.0:0.0:0.0	.	251;16;171	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	G	171;251	ENSP00000351908:V171G	ENSP00000351908:V171G	V	-	2	0	MAP3K5	137083357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.270000	0.75569	0.482000	0.46254	GTG	MAP3K5	-	NULL	ENSG00000197442		0.483	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	162	0.61	1	A			137041664	137041664	-1	no_errors	ENST00000359015	ensembl	human	known	69_37n	missense	131	18.12	29	SNP	1.000	C
MAP3K6	9064	genome.wustl.edu	37	1	27684685	27684685	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:27684685T>G	ENST00000493901.1	-	22	3141	c.2902A>C	c.(2902-2904)Acc>Ccc	p.T968P	MAP3K6_ENST00000374040.3_Missense_Mutation_p.T960P|MAP3K6_ENST00000357582.2_Missense_Mutation_p.T968P	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	968			T -> I (in an ovarian endometrioid cancer sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCTGGCTGGTGCCCCCATAA	0.612											OREG0013282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.2902A>C	1.37:g.27684685T>G	ENSP00000419591:p.Thr968Pro	796	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T968P	ENST00000493901.1	37	c.2902	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	T	17.64	3.439810	0.63067	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000545447;ENST00000357582	T;T;T	0.67698	-0.28;-0.28;-0.28	5.06	2.67	0.31697	.	.	.	.	.	T	0.48447	0.1500	L	0.27053	0.805	0.25526	N	0.987326	P;P	0.40794	0.729;0.61	B;B	0.35607	0.206;0.102	T	0.38243	-0.9670	9	0.54805	T	0.06	.	6.8257	0.23883	0.0:0.1897:0.0:0.8103	.	960;968	O95382-3;O95382	.;M3K6_HUMAN	P	960;968;691;968	ENSP00000363152:T960P;ENSP00000419591:T968P;ENSP00000350195:T968P	ENSP00000350195:T968P	T	-	1	0	MAP3K6	27557272	0.993000	0.37304	1.000000	0.80357	0.979000	0.70002	0.942000	0.29017	0.953000	0.37825	0.528000	0.53228	ACC	MAP3K6	-	NULL	ENSG00000142733		0.612	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	122	0.80	1	T	NM_004672		27684685	27684685	-1	no_errors	ENST00000357582	ensembl	human	known	69_37n	missense	112	31.52	52	SNP	1.000	G
MAP3K9	4293	genome.wustl.edu	37	14	71206789	71206789	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:71206789T>G	ENST00000554752.2	-	7	1659	c.1660A>C	c.(1660-1662)Acc>Ccc	p.T554P	MAP3K9_ENST00000554146.1_Missense_Mutation_p.T291P|MAP3K9_ENST00000381250.4_Missense_Mutation_p.T554P|MAP3K9_ENST00000555993.2_Missense_Mutation_p.T554P|MAP3K9_ENST00000553414.1_Missense_Mutation_p.T248P	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	554					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGAATGATGGTGGGGCTTGCA	0.562																																					GBM(114;411 1587 13539 28235 50070)	dbGAP											0													154.0	139.0	144.0					14																	71206789		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1660A>C	14.37:g.71206789T>G	ENSP00000451612:p.Thr554Pro		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.T554P	ENST00000554752.2	37	c.1660		14	.	.	.	.	.	.	.	.	.	.	T	18.77	3.693874	0.68386	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;T;T;T	0.12879	2.64;2.64;2.64;2.64	6.17	6.17	0.99709	Protein kinase-like domain (1);	0.096332	0.64402	D	0.000001	T	0.16428	0.0395	L	0.41573	1.285	0.46874	D	0.999231	B;B;B;B	0.23937	0.094;0.006;0.094;0.094	B;B;B;B	0.31337	0.088;0.013;0.088;0.128	T	0.04242	-1.0966	10	0.33141	T	0.24	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	291;554;554;248	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	P	554;554;248;554;291;282	ENSP00000451612:T554P;ENSP00000451038:T248P;ENSP00000370649:T554P;ENSP00000451921:T291P	ENSP00000005198:T554P	T	-	1	0	MAP3K9	70276542	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.730000	0.38125	2.371000	0.80710	0.533000	0.62120	ACC	MAP3K9	-	pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom	ENSG00000006432		0.562	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	234	0.42	1	T			71206789	71206789	-1	no_errors	ENST00000555993	ensembl	human	known	69_37n	missense	225	12.79	33	SNP	1.000	G
MAP4K2	5871	genome.wustl.edu	37	11	64567687	64567687	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:64567687T>G	ENST00000294066.2	-	12	900	c.809A>C	c.(808-810)cAc>cCc	p.H270P	MAP4K2_ENST00000377350.3_Splice_Site_p.H270P|MAP4K2_ENST00000468062.1_5'Flank	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|immune response (GO:0006955)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|positive regulation of JNK cascade (GO:0046330)|protein phosphorylation (GO:0006468)|vesicle targeting (GO:0006903)	Golgi membrane (GO:0000139)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CGTGAACGGGTGCTGGAAAGT	0.657																																						dbGAP											0													29.0	35.0	33.0					11																	64567687		2201	4297	6498	-	-	-	SO:0001630	splice_region_variant	0			BC047865	CCDS8082.1	11q13.1	2011-06-09			ENSG00000168067	ENSG00000168067		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6864	protein-coding gene	gene with protein product		603166		RAB8IP		7515885	Standard	NM_004579		Approved	GCK, BL44	uc001obh.3	Q12851	OTTHUMG00000045328	ENST00000294066.2:c.808-1A>C	11.37:g.64567687T>G			Q86VU3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.H270P	ENST00000294066.2	37	c.809	CCDS8082.1	11	.	.	.	.	.	.	.	.	.	.	T	20.5	4.007867	0.75046	.	.	ENSG00000168067	ENST00000294066;ENST00000377350;ENST00000439069	T;T;T	0.34667	1.35;1.35;1.35	4.12	4.12	0.48240	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	0.72463	0.3463	H	0.98388	4.22	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.986	T	0.82137	-0.0606	10	0.87932	D	0	.	11.4632	0.50223	0.0:0.0:0.0:1.0	.	270;270	Q86VU3;Q12851	.;M4K2_HUMAN	P	270;270;226	ENSP00000294066:H270P;ENSP00000366567:H270P;ENSP00000403563:H226P	ENSP00000294066:H270P	H	-	2	0	MAP4K2	64324263	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	6.477000	0.73591	1.893000	0.54813	0.374000	0.22700	CAC	MAP4K2	-	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	ENSG00000168067		0.657	MAP4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP4K2	HGNC	protein_coding	OTTHUMT00000105239.1	67	0.00	0	T	NM_004579	Missense_Mutation	64567687	64567687	-1	no_errors	ENST00000294066	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	1.000	G
MARS	4141	genome.wustl.edu	37	12	57892008	57892008	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:57892008A>C	ENST00000262027.5	+	8	973	c.839A>C	c.(838-840)cAc>cCc	p.H280P	MARS_ENST00000315473.5_Missense_Mutation_p.H46P|MARS_ENST00000447721.2_3'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	280					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	AATGTCCCCCACCTTGGGAAC	0.562																																						dbGAP											0													168.0	124.0	139.0					12																	57892008		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.839A>C	12.37:g.57892008A>C	ENSP00000262027:p.His280Pro		B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.H280P	ENST00000262027.5	37	c.839	CCDS8942.1	12	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685274	0.88639	.	.	ENSG00000166986	ENST00000262027;ENST00000315473	T;D	0.82803	-1.37;-1.65	4.7	4.7	0.59300	Aminoacyl-tRNA synthetase, class I (M) (1);Aminoacyl-tRNA synthetase, class I, conserved site (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.94637	0.8271	H	0.99312	4.51	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95919	0.8929	10	0.87932	D	0	-19.2865	11.9918	0.53180	1.0:0.0:0.0:0.0	.	46;153;280	A6NC17;B4E0E9;P56192	.;.;SYMC_HUMAN	P	280;46	ENSP00000262027:H280P;ENSP00000314653:H46P	ENSP00000262027:H280P	H	+	2	0	MARS	56178275	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.510000	0.73729	1.884000	0.54569	0.459000	0.35465	CAC	MARS	-	pfam_Methionyl/Leucyl_tRNA_Synth,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	ENSG00000166986		0.562	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS	HGNC	protein_coding	OTTHUMT00000407014.1	203	0.49	1	A	NM_004990		57892008	57892008	+1	no_errors	ENST00000262027	ensembl	human	known	69_37n	missense	210	11.30	27	SNP	1.000	C
MAS1L	116511	genome.wustl.edu	37	6	29454652	29454652	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:29454652A>C	ENST00000377127.3	-	1	1086	c.1028T>G	c.(1027-1029)gTg>gGg	p.V343G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	343					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GTTCCTCCCCACCTCTGGCTT	0.507																																					NSCLC(153;755 1987 3859 11251 32945)	dbGAP											0													157.0	154.0	155.0					6																	29454652		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.1028T>G	6.37:g.29454652A>C	ENSP00000366331:p.Val343Gly		Q5SUN5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.V343G	ENST00000377127.3	37	c.1028	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	A	5.314	0.243318	0.10077	.	.	ENSG00000204687	ENST00000377127	T	0.03951	3.75	2.23	-4.46	0.03536	.	.	.	.	.	T	0.00608	0.0020	N	0.12746	0.255	0.09310	N	1	B	0.18461	0.028	B	0.19666	0.026	T	0.48031	-0.9070	9	0.22109	T	0.4	.	2.3446	0.04268	0.3806:0.0:0.3191:0.3002	.	343	P35410	MAS1L_HUMAN	G	343	ENSP00000366331:V343G	ENSP00000366331:V343G	V	-	2	0	MAS1L	29562631	0.004000	0.15560	0.002000	0.10522	0.022000	0.10575	1.336000	0.33850	-1.091000	0.03065	0.410000	0.27636	GTG	MAS1L	-	NULL	ENSG00000204687		0.507	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	255	0.39	1	A	NM_052967		29454652	29454652	-1	no_errors	ENST00000377127	ensembl	human	known	69_37n	missense	257	12.75	38	SNP	0.005	C
MAS1L	116511	genome.wustl.edu	37	6	29455339	29455339	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:29455339T>G	ENST00000377127.3	-	1	399	c.341A>C	c.(340-342)cAc>cCc	p.H114P		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	114					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGCGACCAGGTGGAGGATGTA	0.512																																					NSCLC(153;755 1987 3859 11251 32945)	dbGAP											0													72.0	67.0	69.0					6																	29455339		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.341A>C	6.37:g.29455339T>G	ENSP00000366331:p.His114Pro		Q5SUN5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.H114P	ENST00000377127.3	37	c.341	CCDS4661.1	6	.	.	.	.	.	.	.	.	.	.	T	13.59	2.282027	0.40394	.	.	ENSG00000204687	ENST00000377127	T	0.38722	1.12	2.6	-0.0494	0.13835	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.34600	0.0903	L	0.47716	1.5	0.21064	N	0.999799	D	0.64830	0.994	D	0.70227	0.968	T	0.10520	-1.0626	9	0.87932	D	0	.	5.7384	0.18079	0.0:0.2719:0.0:0.7281	.	114	P35410	MAS1L_HUMAN	P	114	ENSP00000366331:H114P	ENSP00000366331:H114P	H	-	2	0	MAS1L	29563318	0.629000	0.27146	0.030000	0.17652	0.046000	0.14306	1.445000	0.35079	-0.098000	0.12285	0.486000	0.48141	CAC	MAS1L	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000204687		0.512	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAS1L	HGNC	protein_coding	OTTHUMT00000076126.2	98	1.00	1	T	NM_052967		29455339	29455339	-1	no_errors	ENST00000377127	ensembl	human	known	69_37n	missense	41	21.15	11	SNP	0.818	G
MAST3	23031	genome.wustl.edu	37	19	18245661	18245661	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:18245661T>G	ENST00000262811.6	+	16	1652	c.1652T>G	c.(1651-1653)gTg>gGg	p.V551G		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	551	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCCCGAGGTGATCTTCCGC	0.627																																						dbGAP											0													80.0	84.0	83.0					19																	18245661		2030	4202	6232	-	-	-	SO:0001583	missense	0			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1652T>G	19.37:g.18245661T>G	ENSP00000262811:p.Val551Gly		Q7LDZ8|Q9UPI0	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.V551G	ENST00000262811.6	37	c.1652	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	T	20.2	3.947276	0.73672	.	.	ENSG00000099308	ENST00000262811	T	0.71222	-0.55	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.114061	0.64402	D	0.000013	D	0.87059	0.6083	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90134	0.4208	10	0.87932	D	0	-33.4221	13.6275	0.62173	0.0:0.0:0.0:1.0	.	551	O60307	MAST3_HUMAN	G	551	ENSP00000262811:V551G	ENSP00000262811:V551G	V	+	2	0	MAST3	18106661	1.000000	0.71417	0.996000	0.52242	0.613000	0.37349	7.931000	0.87625	1.830000	0.53286	0.260000	0.18958	GTG	MAST3	-	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	ENSG00000099308		0.627	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	158	0.62	1	T	XM_038150		18245661	18245661	+1	no_errors	ENST00000262811	ensembl	human	known	69_37n	missense	126	16.34	25	SNP	1.000	G
MCM10	55388	genome.wustl.edu	37	10	13231004	13231004	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:13231004A>C	ENST00000484800.2	+	10	1445	c.1342A>C	c.(1342-1344)Acc>Ccc	p.T448P	MCM10_ENST00000378694.1_Missense_Mutation_p.T447P|MCM10_ENST00000378714.3_Missense_Mutation_p.T447P			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	448					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CCGCAGAGGCACCAGCCTCAA	0.527																																						dbGAP											0													115.0	115.0	115.0					10																	13231004		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1342A>C	10.37:g.13231004A>C	ENSP00000418268:p.Thr448Pro		A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG	p.T448P	ENST00000484800.2	37	c.1342	CCDS7096.1	10	.	.	.	.	.	.	.	.	.	.	A	8.038	0.763269	0.15914	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.14516	2.5;2.5;2.5	5.62	-11.2	0.00127	.	1.407460	0.03532	N	0.222538	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.25363	-1.0134	10	0.28530	T	0.3	-17.2446	3.6432	0.08174	0.5177:0.1588:0.1928:0.1307	.	447;447;448	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	P	447;448;448;447	ENSP00000367986:T447P;ENSP00000418268:T448P;ENSP00000367966:T447P	ENSP00000354945:T448P	T	+	1	0	MCM10	13271010	0.000000	0.05858	0.000000	0.03702	0.535000	0.34838	-0.517000	0.06275	-2.375000	0.00598	-0.959000	0.02639	ACC	MCM10	-	NULL	ENSG00000065328		0.527	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MCM10	HGNC	protein_coding	OTTHUMT00000356853.1	106	0.00	0	A	NM_182751		13231004	13231004	+1	no_errors	ENST00000361282	ensembl	human	known	69_37n	missense	60	21.79	17	SNP	0.000	C
MCM2	4171	genome.wustl.edu	37	3	127325147	127325147	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:127325147A>C	ENST00000265056.7	+	5	1104	c.860A>C	c.(859-861)cAc>cCc	p.H287P		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	287					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						CGCATCTCCCACCTGCCTCTG	0.612																																						dbGAP											0																																										-	-	-	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.860A>C	3.37:g.127325147A>C	ENSP00000265056:p.His287Pro		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.H287P	ENST00000265056.7	37	c.860	CCDS3043.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.18|13.18	2.160860|2.160860	0.38119|0.38119	.|.	.|.	ENSG00000073111|ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142|ENST00000491422	T|.	0.11277|.	2.79|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Nucleic acid-binding, OB-fold-like (1);|.	0.091361|.	0.85682|.	D|.	0.000000|.	T|T	0.67458|0.67458	0.2895|0.2895	L|L	0.52573|0.52573	1.65|1.65	0.47037|0.47037	D|D	0.999298|0.999298	P;B;B|.	0.41265|.	0.744;0.203;0.095|.	B;B;B|.	0.41036|.	0.346;0.122;0.084|.	T|T	0.65845|0.65845	-0.6069|-0.6069	10|5	0.66056|.	D|.	0.02|.	-44.4129|-44.4129	14.9135|14.9135	0.70776|0.70776	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	268;157;287|.	F5H1E9;B4DSV5;P49736|.	.;.;MCM2_HUMAN|.	P|P	287;191;268|150	ENSP00000265056:H287P|.	ENSP00000265056:H287P|.	H|T	+|+	2|1	0|0	MCM2|MCM2	128807837|128807837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.574000|0.574000	0.36063|0.36063	5.027000|5.027000	0.64109|0.64109	1.916000|1.916000	0.55485|0.55485	0.482000|0.482000	0.46254|0.46254	CAC|ACC	MCM2	-	superfamily_NA-bd_OB-fold-like	ENSG00000073111		0.612	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM2	HGNC	protein_coding	OTTHUMT00000356612.1	97	0.98	1	A			127325147	127325147	+1	no_errors	ENST00000265056	ensembl	human	known	69_37n	missense	69	24.18	22	SNP	1.000	C
MCM5	4174	genome.wustl.edu	37	22	35811871	35811871	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:35811871T>G	ENST00000216122.4	+	10	1407	c.1253T>G	c.(1252-1254)gTg>gGg	p.V418G	MCM5_ENST00000382011.5_Missense_Mutation_p.V375G|MCM5_ENST00000465557.1_3'UTR	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	418	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ACAGCCTCGGTGATGAGGGAC	0.582																																						dbGAP											0													166.0	170.0	169.0					22																	35811871		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.1253T>G	22.37:g.35811871T>G	ENSP00000216122:p.Val418Gly		O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,prints_MCM_5,prints_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	p.V418G	ENST00000216122.4	37	c.1253	CCDS13915.1	22	.	.	.	.	.	.	.	.	.	.	T	29.9	5.045149	0.93685	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582	T;T	0.12361	2.69;2.69	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.60287	0.2257	H	0.99712	4.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	T	0.80082	-0.1531	10	0.87932	D	0	-29.6688	15.8923	0.79309	0.0:0.0:0.0:1.0	.	418;418;375;418	B1AHB0;Q53FG5;B1AHB1;P33992	.;.;.;MCM5_HUMAN	G	418;375;327	ENSP00000216122:V418G;ENSP00000371441:V375G	ENSP00000216122:V418G	V	+	2	0	MCM5	34141871	1.000000	0.71417	0.972000	0.41901	0.925000	0.55904	7.900000	0.87376	2.157000	0.67596	0.533000	0.62120	GTG	MCM5	-	pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase	ENSG00000100297		0.582	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	HGNC	protein_coding	OTTHUMT00000320661.3	133	0.73	1	T			35811871	35811871	+1	no_errors	ENST00000216122	ensembl	human	known	69_37n	missense	107	14.06	18	SNP	1.000	G
MCOLN1	57192	genome.wustl.edu	37	19	7591379	7591379	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:7591379A>C	ENST00000264079.6	+	3	417	c.292A>C	c.(292-294)Acc>Ccc	p.T98P		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	98					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGAAGAGAACACCATCGCCTT	0.592																																						dbGAP											0													229.0	190.0	203.0					19																	7591379		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.292A>C	19.37:g.7591379A>C	ENSP00000264079:p.Thr98Pro		D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF	p.T98P	ENST00000264079.6	37	c.292	CCDS12180.1	19	.	.	.	.	.	.	.	.	.	.	A	29.1	4.973132	0.92919	.	.	ENSG00000090674	ENST00000264079	T	0.57907	0.37	5.48	5.48	0.80851	.	0.095422	0.64402	D	0.000001	T	0.69967	0.3170	M	0.79693	2.465	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.72010	-0.4419	10	0.41790	T	0.15	.	13.558	0.61770	1.0:0.0:0.0:0.0	.	98	Q9GZU1	MCLN1_HUMAN	P	98	ENSP00000264079:T98P	ENSP00000264079:T98P	T	+	1	0	MCOLN1	7497379	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.962000	0.93254	2.081000	0.62600	0.533000	0.62120	ACC	MCOLN1	-	NULL	ENSG00000090674		0.592	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN1	HGNC	protein_coding	OTTHUMT00000458974.2	122	0.00	0	A	NM_020533		7591379	7591379	+1	no_errors	ENST00000264079	ensembl	human	known	69_37n	missense	154	12.00	21	SNP	1.000	C
MCOLN2	255231	genome.wustl.edu	37	1	85405307	85405307	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:85405307A>C	ENST00000370608.3	-	9	1106	c.1039T>G	c.(1039-1041)Tat>Gat	p.Y347D	MCOLN2_ENST00000284027.5_Missense_Mutation_p.Y319D|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	347					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		ACCAGGACATACCAGCCGTTG	0.423																																						dbGAP											0													93.0	89.0	91.0					1																	85405307		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094010	CCDS30762.1	1p22	2011-12-16			ENSG00000153898	ENSG00000153898		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13357	protein-coding gene	gene with protein product		607399				16382100	Standard	XM_005270719		Approved	TRPML2, FLJ36691, TRP-ML2	uc001dkm.3	Q8IZK6	OTTHUMG00000009954	ENST00000370608.3:c.1039T>G	1.37:g.85405307A>C	ENSP00000359640:p.Tyr347Asp		A6NI99|Q2M3I6|Q5TAG5|Q8N9R3	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.Y347D	ENST00000370608.3	37	c.1039	CCDS30762.1	1	.	.	.	.	.	.	.	.	.	.	A	20.0	3.930823	0.73327	.	.	ENSG00000153898	ENST00000370608;ENST00000284027	D;D	0.86230	-2.09;-2.07	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.91915	0.7440	M	0.85373	2.75	0.80722	D	1	D	0.71674	0.998	P	0.62014	0.897	D	0.93181	0.6574	10	0.66056	D	0.02	-14.6146	15.036	0.71748	1.0:0.0:0.0:0.0	.	347	Q8IZK6	MCLN2_HUMAN	D	347;319	ENSP00000359640:Y347D;ENSP00000284027:Y319D	ENSP00000284027:Y319D	Y	-	1	0	MCOLN2	85177895	1.000000	0.71417	0.976000	0.42696	0.742000	0.42306	8.962000	0.93254	1.955000	0.56771	0.460000	0.39030	TAT	MCOLN2	-	NULL	ENSG00000153898		0.423	MCOLN2-001	KNOWN	basic|CCDS	protein_coding	MCOLN2	HGNC	protein_coding	OTTHUMT00000027567.2	152	0.00	0	A	NM_153259		85405307	85405307	-1	no_errors	ENST00000370608	ensembl	human	known	69_37n	missense	81	27.68	31	SNP	1.000	C
MDGA1	266727	genome.wustl.edu	37	6	37605979	37605979	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:37605979A>C	ENST00000434837.3	-	16	3955		c.e16+1		MDGA1_ENST00000297153.7_Splice_Site|MDGA1_ENST00000505425.1_Silent_p.G926G	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1						brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CCCGTCTTGCACCTTTATTGG	0.597																																						dbGAP											0													85.0	90.0	88.0					6																	37605979		2018	4151	6169	-	-	-	SO:0001630	splice_region_variant	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.2776+1T>G	6.37:g.37605979A>C			A6NHG0|Q8NBE3	Splice_Site	SNP	-	e17+2	ENST00000434837.3	37	c.2788+2	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	A	17.30	3.353579	0.61293	.	.	ENSG00000112139	ENST00000434837;ENST00000297153	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4032	0.55424	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MDGA1	37713957	1.000000	0.71417	0.985000	0.45067	0.865000	0.49528	5.557000	0.67313	1.974000	0.57490	0.533000	0.62120	.	MDGA1	-	-	ENSG00000112139		0.597	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	186	0.53	1	A		Intron	37605979	37605979	-1	no_errors	ENST00000297153	ensembl	human	known	69_37n	splice_site	228	13.81	37	SNP	0.994	C
MDN1	23195	genome.wustl.edu	37	6	90482319	90482319	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:90482319T>G	ENST00000369393.3	-	14	2171	c.2056A>C	c.(2056-2058)Acc>Ccc	p.T686P	MDN1_ENST00000428876.1_Missense_Mutation_p.T686P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	686					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TATTGGATGGTAGAGGTTTTG	0.468																																						dbGAP											0													136.0	138.0	137.0					6																	90482319		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2056A>C	6.37:g.90482319T>G	ENSP00000358400:p.Thr686Pro		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.T686P	ENST00000369393.3	37	c.2056	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	T	11.29	1.594571	0.28445	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.55234	0.53;0.53;0.53	5.65	0.0659	0.14359	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.187365	0.46442	D	0.000284	T	0.56717	0.2004	M	0.88450	2.955	0.38185	D	0.939726	P;P	0.48230	0.86;0.907	P;P	0.53266	0.653;0.722	T	0.66740	-0.5847	10	0.66056	D	0.02	.	11.5849	0.50912	0.0:0.3781:0.0:0.6219	.	613;686	Q5T795;Q9NU22	.;MDN1_HUMAN	P	686;686;613	ENSP00000358400:T686P;ENSP00000413970:T686P;ENSP00000409664:T613P	ENSP00000358400:T686P	T	-	1	0	MDN1	90539040	0.995000	0.38212	0.925000	0.36789	0.165000	0.22458	2.166000	0.42406	0.092000	0.17331	-0.297000	0.09499	ACC	MDN1	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,pirsf_Midasin	ENSG00000112159		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	200	0.50	1	T			90482319	90482319	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	154	20.21	39	SNP	0.917	G
MDN1	23195	genome.wustl.edu	37	6	90482325	90482325	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:90482325T>G	ENST00000369393.3	-	14	2165	c.2050A>C	c.(2050-2052)Acc>Ccc	p.T684P	MDN1_ENST00000428876.1_Missense_Mutation_p.T684P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	684					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGGTAGAGGTTTTGCCAGTC	0.488																																						dbGAP											0													133.0	135.0	134.0					6																	90482325		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.2050A>C	6.37:g.90482325T>G	ENSP00000358400:p.Thr684Pro		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.T684P	ENST00000369393.3	37	c.2050	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	T	12.73	2.024330	0.35701	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.65549	-0.16;-0.16;-0.16	5.65	4.47	0.54385	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.055200	0.64402	N	0.000001	D	0.82999	0.5159	H	0.97874	4.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88465	0.3058	10	0.87932	D	0	.	12.7797	0.57471	0.0:0.0:0.1371:0.8629	.	611;684	Q5T795;Q9NU22	.;MDN1_HUMAN	P	684;684;611	ENSP00000358400:T684P;ENSP00000413970:T684P;ENSP00000409664:T611P	ENSP00000358400:T684P	T	-	1	0	MDN1	90539046	1.000000	0.71417	0.997000	0.53966	0.168000	0.22595	7.853000	0.86934	0.943000	0.37553	0.528000	0.53228	ACC	MDN1	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase,pirsf_Midasin	ENSG00000112159		0.488	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	202	0.00	0	T			90482325	90482325	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	missense	157	15.05	28	SNP	1.000	G
MED12	9968	genome.wustl.edu	37	X	70352256	70352256	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:70352256T>G	ENST00000374080.3	+	31	4315	c.4283T>G	c.(4282-4284)gTg>gGg	p.V1428G	MED12_ENST00000374102.1_Missense_Mutation_p.V1428G|MED12_ENST00000333646.6_Missense_Mutation_p.V1428G			Q93074	MED12_HUMAN	mediator complex subunit 12	1428					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTATGGCTGGTGGCCCCCCTC	0.557			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													66.0	61.0	63.0					X																	70352256		1995	4148	6143	-	-	-	SO:0001583	missense	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4283T>G	X.37:g.70352256T>G	ENSP00000363193:p.Val1428Gly		O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.V1428G	ENST00000374080.3	37	c.4283	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174161	0.78452	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.78046	0.4222	M	0.77313	2.365	0.80722	D	1	D;D;D;D	0.76494	0.999;0.998;0.998;0.999	D;D;D;D	0.74023	0.982;0.972;0.976;0.96	T	0.81514	-0.0898	10	0.87932	D	0	-14.6675	13.4424	0.61121	0.0:0.0:0.0:1.0	.	1428;1275;1428;1428	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	G	1428;1428;1428;1428;1396;173	ENSP00000333125:V1428G;ENSP00000363215:V1428G;ENSP00000363193:V1428G;ENSP00000414203:V1396G;ENSP00000408388:V173G	ENSP00000333125:V1428G	V	+	2	0	MED12	70268981	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.270000	0.78493	1.815000	0.52974	0.425000	0.28330	GTG	MED12	-	NULL	ENSG00000184634		0.557	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	210	0.93	2	T	NM_005120		70352256	70352256	+1	no_errors	ENST00000333646	ensembl	human	known	69_37n	missense	159	11.60	21	SNP	1.000	G
MED13L	23389	genome.wustl.edu	37	12	116399202	116399202	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:116399202A>C	ENST00000281928.3	-	31	6708	c.6502T>G	c.(6502-6504)Ttt>Gtt	p.F2168V	RP11-493P1.2_ENST00000549725.1_RNA	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2168						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCAAAACAAACCTGCCAAAG	0.542																																						dbGAP											0													74.0	72.0	72.0					12																	116399202		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.6501-1T>G	12.37:g.116399202A>C			A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.F2168V	ENST00000281928.3	37	c.6502	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	A	27.7	4.851822	0.91355	.	.	ENSG00000123066	ENST00000281928	D	0.82803	-1.65	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.91168	0.7218	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92025	0.5629	10	0.72032	D	0.01	.	16.3951	0.83601	1.0:0.0:0.0:0.0	.	2168	Q71F56	MD13L_HUMAN	V	2168	ENSP00000281928:F2168V	ENSP00000281928:F2168V	F	-	1	0	MED13L	114883585	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.272000	0.75746	0.460000	0.39030	TTT	MED13L	-	pfam_Mediator_Med13	ENSG00000123066		0.542	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	142	0.00	0	A		Missense_Mutation	116399202	116399202	-1	no_errors	ENST00000281928	ensembl	human	known	69_37n	missense	63	17.11	13	SNP	1.000	C
MED22	6837	genome.wustl.edu	37	9	136213393	136213393	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:136213393A>C	ENST00000491289.1	-	2	705		c.e2+1		RPL7A_ENST00000315731.4_5'Flank|MED22_ENST00000476080.1_Splice_Site|SNORD24_ENST00000383884.1_RNA|MED22_ENST00000371999.1_Splice_Site|MED22_ENST00000471524.1_Intron|RPL7A_ENST00000323345.6_5'Flank|MED22_ENST00000344469.5_Splice_Site|MED22_ENST00000343730.5_Splice_Site			Q15528	MED22_HUMAN	mediator complex subunit 22							cytoplasm (GO:0005737)|mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1)	4				OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05)		CCCCACCCCCACCTTGGCGGT	0.587																																						dbGAP											0													131.0	117.0	121.0					9																	136213393		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS6963.1, CCDS6964.1	9q34.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000148297	ENSG00000148297			11477	protein-coding gene	gene with protein product		185641	"""surfeit 5"""	SURF5		8499913, 15175163	Standard	NM_133640		Approved	Med24	uc004cdc.3	Q15528	OTTHUMG00000020869	ENST00000491289.1:c.123+1T>G	9.37:g.136213393A>C			B3KW83|B3KWX4|O76072|Q5T8U0	Splice_Site	SNP	-	e1+2	ENST00000491289.1	37	c.123+2	CCDS6963.1	9	.	.	.	.	.	.	.	.	.	.	A	18.37	3.609982	0.66558	.	.	ENSG00000148297	ENST00000491289;ENST00000486395;ENST00000343730;ENST00000344469;ENST00000476080;ENST00000371999;ENST00000446777;ENST00000494177;ENST00000457204	.	.	.	5.01	3.88	0.44766	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6417	0.39844	0.9177:0.0:0.0823:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MED22	135203214	1.000000	0.71417	0.797000	0.32132	0.819000	0.46315	5.941000	0.70195	0.768000	0.33290	0.402000	0.26972	.	MED22	-	-	ENSG00000148297		0.587	MED22-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MED22	HGNC	protein_coding	OTTHUMT00000054898.2	122	0.00	0	A	NM_133640	Intron	136213393	136213393	-1	no_errors	ENST00000343730	ensembl	human	known	69_37n	splice_site	149	13.37	23	SNP	0.998	C
MED8	112950	genome.wustl.edu	37	1	43850137	43850137	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:43850137T>G	ENST00000372457.4	-	0	1426				MED8_ENST00000290663.6_Missense_Mutation_p.H297P|RP1-92O14.6_ENST00000436713.1_RNA	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8						gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGCTGCAGGTGGGCATTTTT	0.502																																						dbGAP											0													68.0	70.0	69.0					1																	43850137		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"""mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"""			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421	ENST00000372457.4:c.*576A>C	1.37:g.43850137T>G			A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Missense_Mutation	SNP	pfam_Mediatior_Med8_fun/met	p.H297P	ENST00000372457.4	37	c.890	CCDS487.2	1	.	.	.	.	.	.	.	.	.	.	T	7.717	0.696426	0.15106	.	.	ENSG00000159479	ENST00000290663	.	.	.	4.27	-0.905	0.10527	.	.	.	.	.	T	0.29061	0.0722	.	.	.	0.09310	N	1	B	0.22683	0.073	B	0.25405	0.06	T	0.31503	-0.9941	7	0.87932	D	0	8.8377	3.6173	0.08082	0.2761:0.1751:0.0:0.5488	.	297	Q96G25-2	.	P	297	.	ENSP00000290663:H297P	H	-	2	0	MED8	43622724	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.135000	0.10420	-0.462000	0.06984	-1.494000	0.00967	CAC	MED8	-	NULL	ENSG00000159479		0.502	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MED8	HGNC	protein_coding	OTTHUMT00000318959.1	268	0.00	0	T	NM_052877		43850137	43850137	-1	no_errors	ENST00000290663	ensembl	human	known	69_37n	missense	117	17.81	26	SNP	0.000	G
MEF2C	4208	genome.wustl.edu	37	5	88024382	88024382	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:88024382T>G	ENST00000437473.2	-	10	1445	c.1028A>C	c.(1027-1029)cAc>cCc	p.H343P	MEF2C_ENST00000508569.1_Missense_Mutation_p.H335P|MEF2C_ENST00000504921.2_Missense_Mutation_p.H343P|MEF2C_ENST00000506554.1_Missense_Mutation_p.H343P|MEF2C_ENST00000424173.2_Missense_Mutation_p.H333P|MEF2C_ENST00000539796.1_Missense_Mutation_p.H287P|MEF2C_ENST00000510942.1_Missense_Mutation_p.H335P|MEF2C_ENST00000340208.5_Missense_Mutation_p.H353P|MEF2C_ENST00000514028.1_Missense_Mutation_p.H343P|MEF2C_ENST00000514015.1_Missense_Mutation_p.H343P	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	343					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|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)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		TGAACCAAGGTGAAGAGCGCT	0.408										HNSCC(66;0.2)																												dbGAP											0													33.0	34.0	33.0					5																	88024382		1819	3921	5740	-	-	-	SO:0001583	missense	0			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.1028A>C	5.37:g.88024382T>G	ENSP00000396219:p.His343Pro		C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox	p.H343P	ENST00000437473.2	37	c.1028	CCDS47245.1	5	.	.	.	.	.	.	.	.	.	.	T	20.7	4.026985	0.75390	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	N	0.20530	0.585	0.80722	D	1	B;B;D;B	0.69078	0.002;0.002;0.997;0.001	B;B;D;B	0.74348	0.008;0.001;0.983;0.001	T	0.06303	-1.0834	10	0.26408	T	0.33	-7.8594	16.3786	0.83431	0.0:0.0:0.0:1.0	.	333;353;343;335	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	P	353;333;343;343;343;335;343;335;343;287	ENSP00000340874:H353P;ENSP00000389610:H333P;ENSP00000421925:H343P;ENSP00000426665:H343P;ENSP00000396219:H343P;ENSP00000422390:H335P;ENSP00000425636:H343P;ENSP00000423597:H335P;ENSP00000424606:H343P;ENSP00000441153:H287P	ENSP00000340874:H353P	H	-	2	0	MEF2C	88060138	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.622000	0.83099	2.323000	0.78572	0.528000	0.53228	CAC	MEF2C	-	NULL	ENSG00000081189		0.408	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	MEF2C	HGNC	protein_coding	OTTHUMT00000369817.1	140	0.00	0	T	NM_002397		88024382	88024382	-1	no_errors	ENST00000437473	ensembl	human	known	69_37n	missense	134	12.90	20	SNP	1.000	G
MEFV	4210	genome.wustl.edu	37	16	3293517	3293517	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:3293517A>C	ENST00000219596.1	-	10	2009	c.1970T>G	c.(1969-1971)gTg>gGg	p.V657G	MEFV_ENST00000339854.4_Missense_Mutation_p.V477G|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.V446G	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	657	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						TCCAACCTCCACCTCCCAGTA	0.547																																						dbGAP											0													109.0	108.0	108.0					16																	3293517		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1970T>G	16.37:g.3293517A>C	ENSP00000219596:p.Val657Gly		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.V657G	ENST00000219596.1	37	c.1970	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	A	16.73	3.203854	0.58234	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.77229	-1.08;-1.08;-1.08	5.18	5.18	0.71444	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.472639	0.17801	N	0.161551	D	0.93064	0.7792	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95071	0.8204	10	0.87932	D	0	-29.8665	13.2809	0.60214	1.0:0.0:0.0:0.0	.	657	O15553	MEFV_HUMAN	G	657;657;477;446	ENSP00000219596:V657G;ENSP00000339639:V477G;ENSP00000445079:V446G	ENSP00000219596:V657G	V	-	2	0	MEFV	3233518	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.195000	0.72088	2.081000	0.62600	0.528000	0.53228	GTG	MEFV	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000103313		0.547	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	84	0.00	0	A	NM_000243		3293517	3293517	-1	no_errors	ENST00000219596	ensembl	human	known	69_37n	missense	164	13.16	25	SNP	1.000	C
MEGF11	84465	genome.wustl.edu	37	15	66206100	66206100	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:66206100C>T	ENST00000409699.2	-	20	2857	c.2685G>A	c.(2683-2685)atG>atA	p.M895I	MEGF11_ENST00000288745.3_Missense_Mutation_p.M820I|MEGF11_ENST00000395614.1_Missense_Mutation_p.M68I|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.M820I|MEGF11_ENST00000422354.1_Missense_Mutation_p.M895I|MEGF11_ENST00000360698.4_3'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	895					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CGGTGCTGGTCATCCTCATGG	0.612																																						dbGAP											0													58.0	55.0	56.0					15																	66206100		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2685G>A	15.37:g.66206100C>T	ENSP00000386908:p.Met895Ile		Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain	p.M895I	ENST00000409699.2	37	c.2685	CCDS10213.2	15	.	.	.	.	.	.	.	.	.	.	C	15.81	2.944323	0.53079	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000395614	D;D;D;D;T	0.86030	-2.06;-1.95;-2.06;-1.95;1.6	4.51	4.51	0.55191	.	0.000000	0.51477	U	0.000100	T	0.80773	0.4687	L	0.47716	1.5	0.80722	D	1	B;B	0.17268	0.007;0.021	B;B	0.15052	0.005;0.012	T	0.75752	-0.3207	10	0.18276	T	0.48	.	17.3997	0.87456	0.0:1.0:0.0:0.0	.	895;820	A6BM72;A6BM72-2	MEG11_HUMAN;.	I	895;820;895;820;68	ENSP00000386908:M895I;ENSP00000288745:M820I;ENSP00000414475:M895I;ENSP00000378987:M820I;ENSP00000378976:M68I	ENSP00000288745:M820I	M	-	3	0	MEGF11	63993154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.677000	0.37576	2.318000	0.78349	0.555000	0.69702	ATG	MEGF11	-	NULL	ENSG00000157890		0.612	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	HGNC	protein_coding	OTTHUMT00000329307.2	112	0.00	0	C	NM_032445		66206100	66206100	-1	no_errors	ENST00000409699	ensembl	human	known	69_37n	missense	60	23.08	18	SNP	1.000	T
METRNL	284207	genome.wustl.edu	37	17	81042855	81042855	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:81042855T>G	ENST00000320095.7	+	2	337	c.212T>G	c.(211-213)gTg>gGg	p.V71G	METRNL_ENST00000571814.1_5'UTR|METRNL_ENST00000570778.1_5'UTR	NM_001004431.1	NP_001004431.1	Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	71					brown fat cell differentiation (GO:0050873)|fat cell differentiation (GO:0045444)|negative regulation of inflammatory response (GO:0050728)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of energy homeostasis (GO:2000507)|response to cold (GO:0009409)|response to muscle activity (GO:0014850)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GTGGAGCAGGTGTATCTGCGC	0.657																																						dbGAP											0													106.0	104.0	105.0					17																	81042855		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093748	CCDS32779.1	17q25.3	2004-12-01				ENSG00000176845			27584	protein-coding gene	gene with protein product							Standard	NM_001004431		Approved		uc002kgh.3	Q641Q3		ENST00000320095.7:c.212T>G	17.37:g.81042855T>G	ENSP00000315731:p.Val71Gly		B3KSJ5|Q86VM0	Missense_Mutation	SNP	NULL	p.V71G	ENST00000320095.7	37	c.212	CCDS32779.1	17	.	.	.	.	.	.	.	.	.	.	t	21.7	4.186864	0.78789	.	.	ENSG00000176845	ENST00000320095	.	.	.	4.14	4.14	0.48551	.	0.000000	0.85682	D	0.000000	T	0.75466	0.3853	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76239	-0.3032	8	.	.	.	-34.8039	11.4654	0.50235	0.0:0.0:0.0:1.0	.	71	Q641Q3	METRL_HUMAN	G	71	.	.	V	+	2	0	METRNL	78636144	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.534000	0.67167	1.883000	0.54544	0.370000	0.22315	GTG	METRNL	-	NULL	ENSG00000176845		0.657	METRNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METRNL	HGNC	protein_coding	OTTHUMT00000438902.1	135	0.73	1	T	NM_001004431		81042855	81042855	+1	no_errors	ENST00000320095	ensembl	human	known	69_37n	missense	72	16.09	14	SNP	1.000	G
METTL7B	196410	genome.wustl.edu	37	12	56077678	56077678	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:56077678A>C	ENST00000394252.3	+	2	789	c.580A>C	c.(580-582)Acc>Ccc	p.T194P		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	194							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						TTTCGAGCCCACCTGGAAACA	0.552																																						dbGAP											0													125.0	115.0	118.0					12																	56077678		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.580A>C	12.37:g.56077678A>C	ENSP00000377796:p.Thr194Pro		A8K247|Q8WUI1	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel	p.T194P	ENST00000394252.3	37	c.580	CCDS8887.2	12	.	.	.	.	.	.	.	.	.	.	A	13.61	2.288510	0.40494	.	.	ENSG00000170439	ENST00000394252	T	0.23552	1.9	4.01	4.01	0.46588	.	0.328059	0.32244	N	0.006378	T	0.25195	0.0612	L	0.54908	1.71	0.39410	D	0.966745	B	0.24768	0.111	B	0.26693	0.072	T	0.09443	-1.0674	10	0.44086	T	0.13	-24.4127	10.9405	0.47270	1.0:0.0:0.0:0.0	.	194	Q6UX53	MET7B_HUMAN	P	194	ENSP00000377796:T194P	ENSP00000377796:T194P	T	+	1	0	METTL7B	54363945	0.834000	0.29399	1.000000	0.80357	0.543000	0.35085	2.597000	0.46214	1.679000	0.50963	0.459000	0.35465	ACC	METTL7B	-	NULL	ENSG00000170439		0.552	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL7B	HGNC	protein_coding	OTTHUMT00000327271.1	146	0.00	0	A	NM_152637		56077678	56077678	+1	no_errors	ENST00000394252	ensembl	human	known	69_37n	missense	113	15.56	21	SNP	0.877	C
MFN2	9927	genome.wustl.edu	37	1	12066642	12066642	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:12066642A>C	ENST00000235329.5	+	16	2086	c.1764A>C	c.(1762-1764)ccA>ccC	p.P588P	MFN2_ENST00000444836.1_Silent_p.P588P	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	588					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCATGCCCCCACTGCCACAGG	0.587																																						dbGAP											0													99.0	85.0	89.0					1																	12066642		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.1764A>C	1.37:g.12066642A>C			A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Silent	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase	p.P588	ENST00000235329.5	37	c.1764	CCDS30587.1	1																																																																																			MFN2	-	pfam_Fzo/mitofusin_HR2	ENSG00000116688		0.587	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN2	HGNC	protein_coding	OTTHUMT00000006859.2	104	0.95	1	A	NM_014874		12066642	12066642	+1	no_errors	ENST00000235329	ensembl	human	known	69_37n	silent	132	12.00	18	SNP	0.000	C
MFAP2	4237	genome.wustl.edu	37	1	17303349	17303349	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:17303349A>C	ENST00000375535.3	-	4	444				RP1-37C10.3_ENST00000446261.1_RNA|MFAP2_ENST00000375534.3_Intron|MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Intron			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2						extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGGTCTCCCCACCCCAGCTGC	0.587																																						dbGAP											0													101.0	117.0	112.0					1																	17303349		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.154+42T>G	1.37:g.17303349A>C			Q53X60|Q5JXY0	RNA	SNP	-	NULL	ENST00000375535.3	37	NULL	CCDS174.1	1																																																																																			MFAP2	-	-	ENSG00000117122		0.587	MFAP2-001	KNOWN	basic|CCDS	protein_coding	MFAP2	HGNC	protein_coding	OTTHUMT00000006609.1	115	0.86	1	A	NM_002403		17303349	17303349	-1	no_errors	ENST00000476788	ensembl	human	known	69_37n	rna	79	24.30	26	SNP	0.000	C
MFSD3	113655	genome.wustl.edu	37	8	145735753	145735753	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:145735753T>G	ENST00000301327.4	+	2	953	c.693T>G	c.(691-693)ggT>ggG	p.G231G	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'Flank	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	231	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-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;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTGAGCAGGGTGCCAGCAGCC	0.642																																						dbGAP											0													85.0	80.0	82.0					8																	145735753		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.693T>G	8.37:g.145735753T>G				Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.G231	ENST00000301327.4	37	c.693	CCDS6431.1	8																																																																																			MFSD3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000167700		0.642	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD3	HGNC	protein_coding	OTTHUMT00000382478.2	67	0.00	0	T	NM_138431		145735753	145735753	+1	no_errors	ENST00000301327	ensembl	human	known	69_37n	silent	62	26.19	22	SNP	0.088	G
MFSD4	148808	genome.wustl.edu	37	1	205549907	205549907	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:205549907A>C	ENST00000367147.4	+	3	641	c.548A>C	c.(547-549)cAc>cCc	p.H183P	MFSD4_ENST00000536357.1_Intron|MFSD4_ENST00000539267.1_Missense_Mutation_p.H183P	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	183					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCCCGAGGCCACCTGTTCCAT	0.617																																						dbGAP											0													91.0	85.0	87.0					1																	205549907		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.548A>C	1.37:g.205549907A>C	ENSP00000356115:p.His183Pro		B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.H183P	ENST00000367147.4	37	c.548	CCDS1455.1	1	.	.	.	.	.	.	.	.	.	.	A	10.73	1.431912	0.25813	.	.	ENSG00000174514	ENST00000367147;ENST00000539267	T;T	0.22945	1.94;1.93	4.29	0.315	0.15852	Major facilitator superfamily domain, general substrate transporter (1);	0.424311	0.21357	N	0.075864	T	0.08980	0.0222	N	0.08118	0	0.09310	N	1	B;P	0.41498	0.001;0.752	B;B	0.38655	0.002;0.278	T	0.14727	-1.0462	10	0.23891	T	0.37	-9.7688	2.0939	0.03663	0.5867:0.1618:0.0945:0.157	.	128;183	B7Z8X0;Q8N468	.;MFSD4_HUMAN	P	183	ENSP00000356115:H183P;ENSP00000445329:H183P	ENSP00000356115:H183P	H	+	2	0	MFSD4	203816530	0.117000	0.22190	0.968000	0.41197	0.821000	0.46438	0.877000	0.28106	0.272000	0.22027	0.523000	0.50628	CAC	MFSD4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000174514		0.617	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD4	HGNC	protein_coding	OTTHUMT00000090391.1	92	0.00	0	A	NM_181644		205549907	205549907	+1	no_errors	ENST00000367147	ensembl	human	known	69_37n	missense	119	20.39	31	SNP	0.080	C
MIA3	375056	genome.wustl.edu	37	1	222837366	222837366	+	Silent	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:222837366T>C	ENST00000344922.5	+	27	5314	c.5289T>C	c.(5287-5289)ccT>ccC	p.P1763P	MIA3_ENST00000344441.6_Silent_p.P1763P|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Silent_p.P641P|RP11-378J18.8_ENST00000608771.1_RNA	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1763	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAGGGCCCCCTCCTTTCCCAG	0.502																																						dbGAP											0													64.0	69.0	67.0					1																	222837366		1841	4087	5928	-	-	-	SO:0001819	synonymous_variant	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5289T>C	1.37:g.222837366T>C			A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	NULL	p.S48P	ENST00000344922.5	37	c.142	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	T	2.717	-0.267570	0.05754	.	.	ENSG00000154305	ENST00000450260	.	.	.	5.86	-4.05	0.03998	.	.	.	.	.	T	0.38532	0.1044	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37776	-0.9691	4	.	.	.	.	2.171	0.03849	0.3967:0.0684:0.1826:0.3523	.	.	.	.	P	48	.	.	S	+	1	0	MIA3	220903989	0.079000	0.21365	0.710000	0.30468	0.097000	0.18754	-0.125000	0.10579	-0.459000	0.07013	-0.250000	0.11733	TCC	MIA3	-	NULL	ENSG00000154305		0.502	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	78	0.00	0	T	NM_198551		222837366	222837366	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000450260	ensembl	human	known	69_37n	missense	185	13.55	29	SNP	0.655	C
MICAL3	57553	genome.wustl.edu	37	22	18301616	18301616	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:18301616T>G	ENST00000441493.2	-	26	4163	c.3811A>C	c.(3811-3813)Act>Cct	p.T1271P		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1271	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GATGGGACAGTGGCCTCGGTG	0.692																																						dbGAP											0													28.0	34.0	32.0					22																	18301616		1961	4135	6096	-	-	-	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3811A>C	22.37:g.18301616T>G	ENSP00000416015:p.Thr1271Pro		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.T1271P	ENST00000441493.2	37	c.3811	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	T	3.796	-0.042664	0.07452	.	.	ENSG00000093100	ENST00000441493	T	0.61627	0.09	4.73	1.08	0.20341	.	.	.	.	.	T	0.38799	0.1054	L	0.34521	1.04	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.08764	-1.0706	8	.	.	.	.	5.3771	0.16172	0.4212:0.0953:0.0:0.4835	.	1271	Q7RTP6	MICA3_HUMAN	P	1271	ENSP00000416015:T1271P	.	T	-	1	0	XXbac-B461K10.4	16681616	0.001000	0.12720	0.839000	0.33178	0.008000	0.06430	0.214000	0.17541	0.168000	0.19655	-0.370000	0.07254	ACT	MICAL3	-	NULL	ENSG00000243156		0.692	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	34	0.00	0	T			18301616	18301616	-1	no_errors	ENST00000441493	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	0.941	G
MICALL1	85377	genome.wustl.edu	37	22	38327875	38327875	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:38327875A>C	ENST00000215957.6	+	10	2077	c.1951A>C	c.(1951-1953)Acc>Ccc	p.T651P	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	651	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AAAGAAGGCCACCAAGGGATC	0.597																																						dbGAP											0													75.0	77.0	76.0					22																	38327875		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1951A>C	22.37:g.38327875A>C	ENSP00000215957:p.Thr651Pro		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.T651P	ENST00000215957.6	37	c.1951	CCDS13961.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.85|11.85	1.761401|1.761401	0.31228|0.31228	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000454685|ENST00000215957;ENST00000402631	.|T;T	.|0.51574	.|0.7;1.99	5.55|5.55	3.37|3.37	0.38596|0.38596	.|.	.|0.303702	.|0.28624	.|N	.|0.014689	T|T	0.32793|0.32793	0.0841|0.0841	L|L	0.37897|0.37897	1.145|1.145	0.40737|0.40737	D|D	0.982791|0.982791	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.10683|0.10683	-1.0619|-1.0619	5|10	.|0.25751	.|T	.|0.34	.|.	6.9571|6.9571	0.24578|0.24578	0.5118:0.3929:0.0953:0.0|0.5118:0.3929:0.0953:0.0	.|.	.|651	.|Q8N3F8	.|MILK1_HUMAN	P|P	226|651;78	.|ENSP00000215957:T651P;ENSP00000384608:T78P	.|ENSP00000215957:T651P	H|T	+|+	2|1	0|0	MICALL1|MICALL1	36657821|36657821	0.052000|0.052000	0.20516|0.20516	1.000000|1.000000	0.80357|0.80357	0.560000|0.560000	0.35617|0.35617	0.508000|0.508000	0.22692|0.22692	0.953000|0.953000	0.37825|0.37825	0.482000|0.482000	0.46254|0.46254	CAC|ACC	MICALL1	-	NULL	ENSG00000100139		0.597	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4	113	0.00	0	A	NM_033386		38327875	38327875	+1	no_errors	ENST00000215957	ensembl	human	known	69_37n	missense	63	18.18	14	SNP	1.000	C
MICALL1	85377	genome.wustl.edu	37	22	38327901	38327901	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:38327901A>C	ENST00000215957.6	+	10	2103	c.1977A>C	c.(1975-1977)ccA>ccC	p.P659P	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	659	Pro-rich.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CAGTGAGGCCACCTGCCCCTG	0.612																																						dbGAP											0													74.0	77.0	76.0					22																	38327901		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.1977A>C	22.37:g.38327901A>C			Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	pfam_DUF3585	p.T235P	ENST00000215957.6	37	c.703	CCDS13961.1	22	.	.	.	.	.	.	.	.	.	.	A	11.82	1.753848	0.31046	.	.	ENSG00000100139	ENST00000454685	.	.	.	5.55	-7.24	0.01475	.	.	.	.	.	T	0.33059	0.0850	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43410	-0.9393	4	.	.	.	.	0.7611	0.01007	0.2643:0.2833:0.2511:0.2013	.	.	.	.	P	235	.	.	T	+	1	0	MICALL1	36657847	0.000000	0.05858	0.954000	0.39281	0.910000	0.53928	-2.731000	0.00805	-0.876000	0.04017	0.482000	0.46254	ACC	MICALL1	-	NULL	ENSG00000100139		0.612	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL1	HGNC	protein_coding	OTTHUMT00000319545.4	109	0.91	1	A	NM_033386		38327901	38327901	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454685	ensembl	human	putative	69_37n	missense	65	21.18	18	SNP	0.818	C
MICALL2	79778	genome.wustl.edu	37	7	1477592	1477592	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:1477592A>C	ENST00000297508.7	-	13	2511	c.2336T>G	c.(2335-2337)gTg>gGg	p.V779G	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.V567G	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	779	Forms an intramolecular interaction with the N-terminal CH and LIM zinc-binding domains-containing region keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GAACCAGTCCACCATGAGGCT	0.632																																						dbGAP											0													37.0	36.0	36.0					7																	1477592		2103	4169	6272	-	-	-	SO:0001583	missense	0			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2336T>G	7.37:g.1477592A>C	ENSP00000297508:p.Val779Gly		D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.V779G	ENST00000297508.7	37	c.2336	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	A	13.63	2.294846	0.40594	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.44482	0.92;0.92	3.62	3.62	0.41486	Domain of unknown function DUF3585 (1);	0.000000	0.33309	N	0.005052	T	0.60919	0.2306	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.985;1.0;0.999	T	0.63422	-0.6641	10	0.49607	T	0.09	.	12.3548	0.55169	1.0:0.0:0.0:0.0	.	779;567;368	Q8IY33;D3YTD2;Q8IY33-3	MILK2_HUMAN;.;.	G	567;779	ENSP00000385928:V567G;ENSP00000297508:V779G	ENSP00000297508:V779G	V	-	2	0	MICALL2	1444118	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	2.591000	0.46163	1.642000	0.50584	0.459000	0.35465	GTG	MICALL2	-	pfam_DUF3585	ENSG00000164877		0.632	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	HGNC	protein_coding	OTTHUMT00000239223.2	57	0.00	0	A	NM_182924		1477592	1477592	-1	no_errors	ENST00000297508	ensembl	human	known	69_37n	missense	62	12.68	9	SNP	1.000	C
PTPN6	5777	genome.wustl.edu	37	12	7073348	7073348	+	IGR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:7073348T>G	ENST00000318974.9	+	0	2245				U47924.27_ENST00000537269.1_lincRNA|MIR200C_ENST00000384980.1_RNA|U47924.29_ENST00000606539.1_RNA|MIR141_ENST00000384975.1_RNA	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6						abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGCTCCCGGGTGGGTTCTCTC	0.552																																						dbGAP											0													35.0	39.0	37.0					12																	7073348		1564	3572	5136	-	-	-	SO:0001628	intergenic_variant	0				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518		12.37:g.7073348T>G			A8K306|G3V0F8|Q969V8|Q9UK67	RNA	SNP	-	NULL	ENST00000318974.9	37	NULL	CCDS44820.1	12																																																																																			MIR141	-	-	ENSG00000207708		0.552	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR141	HGNC	protein_coding	OTTHUMT00000400023.1	154	0.00	0	T	NM_002831		7073348	7073348	+1	no_errors	ENST00000384975	ensembl	human	known	69_37n	rna	115	19.01	27	SNP	0.801	G
C17orf49	124944	genome.wustl.edu	37	17	6920938	6920938	+	IGR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:6920938A>C	ENST00000439424.2	+	0	850				MIR497HG_ENST00000385056.1_RNA|MIR497HG_ENST00000385194.1_RNA|MIR497HG_ENST00000572453.1_RNA|RP11-589P10.7_ENST00000572547.1_RNA|MIR497HG_ENST00000443997.1_RNA	NM_001142798.2|NM_174893.3	NP_001136270.1|NP_777553.1	Q8IXM2	BAP18_HUMAN	chromosome 17 open reading frame 49						chromatin modification (GO:0016568)	MLL1 complex (GO:0071339)|NURF complex (GO:0016589)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|ovary(1)	4						AGTTTTCACCACCCTGCCTGG	0.562																																						dbGAP											0													19.0	19.0	19.0					17																	6920938		1568	3582	5150	-	-	-	SO:0001628	intergenic_variant	0			AK055800	CCDS32542.1, CCDS45595.1, CCDS45596.1	17p13.1	2013-02-11			ENSG00000258315	ENSG00000258315			28737	protein-coding gene	gene with protein product	"""BPTF associated protein of 18 kDa"", ""human embryo lung cellular protein interacting with SARS-CoV nsp-10"""						Standard	NM_174893		Approved	MGC49942, BAP18, HEPIS		Q8IXM2	OTTHUMG00000170147		17.37:g.6920938A>C			B4DIV3|C9J4G0|E9PB29	RNA	SNP	-	NULL	ENST00000439424.2	37	NULL	CCDS32542.1	17																																																																																			MIR195	-	-	ENSG00000207929		0.562	C17orf49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR195	HGNC	protein_coding	OTTHUMT00000407666.1	43	0.00	0	A	NM_174893		6920938	6920938	-1	no_errors	ENST00000385194	ensembl	human	known	69_37n	rna	29	17.14	6	SNP	0.985	C
MIR7-3HG	284424	genome.wustl.edu	37	19	4770609	4770609	+	lincRNA	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:4770609T>G	ENST00000586721.1	+	0	509				MIR7-3_ENST00000384898.1_RNA			Q8N6C7	PGSF1_HUMAN	MIR7-3 host gene (non-protein coding)																		GAAACTCAGGTGTCATAGCTT	0.587																																						dbGAP											0													246.0	239.0	241.0					19																	4770609		692	1591	2283	-	-	-			0			AB058892		19p13.3	2014-03-17	2011-09-01	2011-09-01	ENSG00000176840	ENSG00000176840		"""Long non-coding RNAs"""	30049	non-coding RNA	RNA, long non-coding	"""pituitary gland specific factor 1a"", ""pituitary gland specific factor 1b"""		"""chromosome 19 open reading frame 30"", ""non-protein coding RNA 306"", ""long intergenic non-protein coding RNA 306"""	C19orf30, NCRNA00306, LINC00306		11854097	Standard	NR_027148		Approved	PGSF1, PGSF1a, PGSF1b, Huh7, uc002mbe.2	uc010xii.2	Q8N6C7	OTTHUMG00000150589		19.37:g.4770609T>G			D6W630|Q17RJ9|Q8N6C6	RNA	SNP	-	NULL	ENST00000586721.1	37	NULL		19																																																																																			MIR7-3HG	-	-	ENSG00000176840		0.587	MIR7-3HG-002	KNOWN	basic	lincRNA	MIR7-3HG	HGNC	lincRNA	OTTHUMT00000459345.1	299	0.66	2	T	NR_027148		4770609	4770609	+1	no_errors	ENST00000588923	ensembl	human	known	69_37n	rna	235	17.19	49	SNP	0.003	G
GATAD2A	54815	genome.wustl.edu	37	19	19545943	19545943	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:19545943A>C	ENST00000360315.3	+	2	306				MIR640_ENST00000385086.1_RNA|GATAD2A_ENST00000252577.5_Intron|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000404158.1_Intron	NM_017660.3	NP_060130.3	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A						anterior neuropore closure (GO:0021506)|blood vessel development (GO:0001568)|DNA methylation (GO:0006306)|embryonic body morphogenesis (GO:0010172)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|neural fold formation (GO:0001842)|programmed cell death (GO:0012501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|NuRD complex (GO:0016581)	protein binding, bridging (GO:0030674)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						tgatccaggaacctgcctcta	0.493																																						dbGAP											0													94.0	89.0	91.0					19																	19545943		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AL390164	CCDS12402.2	19p13.11	2013-01-25			ENSG00000167491	ENSG00000167491		"""GATA zinc finger domain containing"""	29989	protein-coding gene	gene with protein product	"""p66 alpha"""	614997				12183469	Standard	NM_017660		Approved	p66alpha	uc010xqt.2	Q86YP4	OTTHUMG00000152541	ENST00000360315.3:c.-6-30206A>C	19.37:g.19545943A>C			B5MC40|Q7L3J2|Q96F28|Q9NPU2|Q9NXS1	RNA	SNP	-	NULL	ENST00000360315.3	37	NULL	CCDS12402.2	19																																																																																			MIR640	-	-	ENSG00000207821		0.493	GATAD2A-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIR640	HGNC	protein_coding	OTTHUMT00000326671.4	159	0.62	1	A	NM_017660		19545943	19545943	+1	no_errors	ENST00000385086	ensembl	human	known	69_37n	rna	82	32.23	39	SNP	0.004	C
MAP2K4	6416	genome.wustl.edu	37	17	11985226	11985226	+	Intron	SNP	T	T	G	rs557969425		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:11985226T>G	ENST00000353533.5	+	3	456				MIR744_ENST00000578242.1_RNA|MAP2K4_ENST00000415385.3_Intron|MAP2K4_ENST00000581941.1_Intron	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTGGGCAAGGTGCGGGGCTAG	0.617			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)											76.0	79.0	78.0					17																	11985226		1568	3581	5149	-	-	-	SO:0001627	intron_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.393+379T>G	17.37:g.11985226T>G			B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	RNA	SNP	-	NULL	ENST00000353533.5	37	NULL	CCDS11162.1	17																																																																																			MIR744	-	-	ENSG00000211589		0.617	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MIR744	HGNC	protein_coding	OTTHUMT00000441226.1	130	0.75	1	T			11985226	11985226	+1	no_errors	ENST00000390234	ensembl	human	known	69_37n	rna	79	15.05	14	SNP	1.000	G
FBXL7	23194	genome.wustl.edu	37	5	15935292	15935292	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:15935292T>G	ENST00000504595.1	+	4	1220				FBXL7_ENST00000329673.7_Intron|FBXL7_ENST00000510662.1_Intron|MIR887_ENST00000401258.1_RNA	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7						cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						agccccggggtgcagatcctt	0.562																																						dbGAP											0													96.0	103.0	101.0					5																	15935292		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.740-1267T>G	5.37:g.15935292T>G			B9EGF1|D6RDY7|O94926	RNA	SNP	-	NULL	ENST00000504595.1	37	NULL	CCDS54833.1	5																																																																																			MIR887	-	-	ENSG00000216077		0.562	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR887	HGNC	protein_coding	OTTHUMT00000366117.1	240	0.41	1	T	NM_012304		15935292	15935292	+1	no_errors	ENST00000401258	ensembl	human	known	69_37n	rna	154	12.99	23	SNP	0.000	G
MITF	4286	genome.wustl.edu	37	3	69928493	69928493	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:69928493A>C	ENST00000448226.2	+	2	440	c.313A>C	c.(313-315)Acc>Ccc	p.T105P	MITF_ENST00000328528.6_Missense_Mutation_p.T104P|MITF_ENST00000314589.5_Missense_Mutation_p.T89P|MITF_ENST00000394355.2_Missense_Mutation_p.T80P|MITF_ENST00000352241.4_Missense_Mutation_p.T105P|MITF_ENST00000472437.1_Missense_Mutation_p.T53P			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	105					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TGTGCCCACCACCCTTCCCTC	0.562			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)	dbGAP		Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	0													61.0	73.0	69.0					3																	69928493		2158	4253	6411	-	-	-	SO:0001583	missense	0				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.313A>C	3.37:g.69928493A>C	ENSP00000391803:p.Thr105Pro		B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.T105P	ENST00000448226.2	37	c.313		3	.	.	.	.	.	.	.	.	.	.	A	14.10	2.435795	0.43224	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000429090;ENST00000433517;ENST00000472437;ENST00000457080;ENST00000328528;ENST00000451708;ENST00000314589;ENST00000394355	T;T;T;T;T;T;T;T	0.49432	2.67;2.18;2.47;0.78;2.66;1.85;2.65;2.68	6.02	4.87	0.63330	.	0.177784	0.64402	D	0.000011	T	0.35278	0.0926	N	0.25890	0.77	0.32917	D	0.515333	B;P;P;B;B	0.40332	0.303;0.572;0.713;0.008;0.127	B;B;B;B;B	0.39660	0.095;0.195;0.306;0.012;0.124	T	0.46555	-0.9183	9	.	.	.	.	11.8797	0.52568	0.9325:0.0:0.0675:0.0	.	53;80;89;104;105	E9PFN0;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.	P	105;105;53;53;53;104;104;89;89;80	ENSP00000295600:T105P;ENSP00000391803:T105P;ENSP00000418845:T53P;ENSP00000391276:T104P;ENSP00000327867:T104P;ENSP00000398639:T89P;ENSP00000324443:T89P;ENSP00000377884:T80P	.	T	+	1	0	MITF	70011183	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.433000	0.52834	1.112000	0.41740	0.533000	0.62120	ACC	MITF	-	NULL	ENSG00000187098		0.562	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	MITF	HGNC	protein_coding	OTTHUMT00000313947.1	150	0.65	1	A	NM_198159		69928493	69928493	+1	no_errors	ENST00000448226	ensembl	human	known	69_37n	missense	83	20.19	21	SNP	1.000	C
MKNK1	8569	genome.wustl.edu	37	1	47027166	47027166	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:47027166T>G	ENST00000371946.4	-	12	1275	c.1112A>C	c.(1111-1113)cAc>cCc	p.H371P	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.H235P|MKNK1_ENST00000341183.5_Missense_Mutation_p.H330P|MKNK1_ENST00000428112.2_Missense_Mutation_p.H330P|MKNK1_ENST00000371945.4_Missense_Mutation_p.H330P	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CACCCATGGGTGCTGCAGAAC	0.582																																						dbGAP											0													79.0	70.0	73.0					1																	47027166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.1112A>C	1.37:g.47027166T>G	ENSP00000361014:p.His371Pro		D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	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.H371P	ENST00000371946.4	37	c.1112	CCDS538.1	1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.540595	0.85917	.	.	ENSG00000079277	ENST00000371946;ENST00000371945;ENST00000371944;ENST00000341183;ENST00000428112	T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5	5.05	5.05	0.67936	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	0.70176	0.3194	H	0.98068	4.14	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.991;0.997	T	0.82110	-0.0619	10	0.87932	D	0	-19.2412	14.1242	0.65210	0.0:0.0:0.0:1.0	.	235;235;330;330;371	B4DQK5;Q7Z319;Q9BUB5-3;Q9BUB5-2;Q9BUB5	.;.;.;.;MKNK1_HUMAN	P	371;330;235;330;330	ENSP00000361014:H371P;ENSP00000361013:H330P;ENSP00000361012:H235P;ENSP00000339573:H330P;ENSP00000411135:H330P	ENSP00000339573:H330P	H	-	2	0	MKNK1	46799753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	2.131000	0.65755	0.459000	0.35465	CAC	MKNK1	-	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	ENSG00000079277		0.582	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	HGNC	protein_coding	OTTHUMT00000021897.2	130	0.00	0	T	NM_003684		47027166	47027166	-1	no_errors	ENST00000371946	ensembl	human	known	69_37n	missense	83	15.15	15	SNP	1.000	G
KMT2D	8085	genome.wustl.edu	37	12	49445936	49445936	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:49445936T>G	ENST00000301067.7	-	10	1529	c.1530A>C	c.(1528-1530)tcA>tcC	p.S510S		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	510	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GAGAAAAAGGTGATGATTCAG	0.617																																						dbGAP											0													46.0	53.0	50.0					12																	49445936		2044	4186	6230	-	-	-	SO:0001819	synonymous_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1530A>C	12.37:g.49445936T>G			O14687	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.S510	ENST00000301067.7	37	c.1530	CCDS44873.1	12																																																																																			MLL2	-	NULL	ENSG00000167548		0.617	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	141	0.70	1	T			49445936	49445936	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	silent	68	19.05	16	SNP	0.988	G
MME	4311	genome.wustl.edu	37	3	154886405	154886405	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:154886405T>G	ENST00000460393.1	+	19	2025	c.1905T>G	c.(1903-1905)ggT>ggG	p.G635G	MME_ENST00000462745.1_Silent_p.G635G|MME_ENST00000360490.2_Silent_p.G635G|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000492661.1_Silent_p.G635G|MME_ENST00000493237.1_Silent_p.G635G	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	635					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	ACCTGGCAGGTGGACAGCACG	0.398																																						dbGAP											0													149.0	140.0	143.0					3																	154886405		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1905T>G	3.37:g.154886405T>G			A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.G635	ENST00000460393.1	37	c.1905	CCDS3172.1	3																																																																																			MME	-	pfam_Peptidase_M13_C	ENSG00000196549		0.398	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	211	0.47	1	T	NM_000902		154886405	154886405	+1	no_errors	ENST00000360490	ensembl	human	known	69_37n	silent	170	11.92	23	SNP	0.998	G
MMP11	4320	genome.wustl.edu	37	22	24124572	24124572	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:24124572A>C	ENST00000215743.3	+	7	1287	c.1235A>C	c.(1234-1236)cAc>cCc	p.H412P	AP000349.1_ENST00000598975.1_Silent_p.G214G	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	412					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	TGGCGTTTCCACCCCAGCACC	0.632																																						dbGAP											0													60.0	53.0	56.0					22																	24124572		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1235A>C	22.37:g.24124572A>C	ENSP00000215743:p.His412Pro		Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.H412P	ENST00000215743.3	37	c.1235	CCDS13816.1	22	.	.	.	.	.	.	.	.	.	.	A	13.29	2.194194	0.38707	.	.	ENSG00000099953	ENST00000215743	T	0.02525	4.26	4.93	3.88	0.44766	Hemopexin/matrixin (2);	0.494376	0.24347	N	0.039302	T	0.04137	0.0115	L	0.40543	1.245	0.34768	D	0.733432	P	0.40250	0.709	B	0.41510	0.359	T	0.37663	-0.9696	10	0.87932	D	0	.	11.464	0.50227	0.849:0.151:0.0:0.0	.	412	P24347	MMP11_HUMAN	P	412	ENSP00000215743:H412P	ENSP00000215743:H412P	H	+	2	0	MMP11	22454572	1.000000	0.71417	0.947000	0.38551	0.566000	0.35808	2.806000	0.47947	1.015000	0.39444	-0.449000	0.05564	CAC	MMP11	-	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat	ENSG00000099953		0.632	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP11	HGNC	protein_coding	OTTHUMT00000319891.2	58	0.00	0	A	NM_005940		24124572	24124572	+1	no_errors	ENST00000215743	ensembl	human	known	69_37n	missense	26	29.73	11	SNP	0.994	C
MOK	5891	genome.wustl.edu	37	14	102698908	102698908	+	Missense_Mutation	SNP	T	T	G	rs368133453		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:102698908T>G	ENST00000361847.2	-	9	1061	c.830A>C	c.(829-831)cAc>cCc	p.H277P	MOK_ENST00000193029.6_Missense_Mutation_p.H43P|MOK_ENST00000522874.1_Missense_Mutation_p.H276P|MOK_ENST00000523231.1_Missense_Mutation_p.T10P|MOK_ENST00000522867.1_Missense_Mutation_p.T10P|MOK_ENST00000517966.1_Missense_Mutation_p.T10P|MOK_ENST00000524370.1_Missense_Mutation_p.T10P|MOK_ENST00000520266.1_Intron|MOK_ENST00000522534.1_Missense_Mutation_p.T10P|MOK_ENST00000561150.1_Missense_Mutation_p.T10P|MOK_ENST00000524214.1_Missense_Mutation_p.H247P|MOK_ENST00000519058.1_Missense_Mutation_p.T10P	NM_014226.1	NP_055041.1	Q9UQ07	MOK_HUMAN	MOK protein kinase	277	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)										CAGGGCCTGGTGGGCGGCGAT	0.572																																						dbGAP											0													135.0	138.0	137.0					14																	102698908		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB022694	CCDS9971.1, CCDS61552.1	14q32	2014-04-23	2011-09-06	2011-09-06	ENSG00000080823	ENSG00000080823			9833	protein-coding gene	gene with protein product		605762	"""renal tumor antigen"""	RAGE		8781117, 10421840	Standard	NM_014226		Approved	RAGE1, STK30	uc001ylm.4	Q9UQ07	OTTHUMG00000164896	ENST00000361847.2:c.830A>C	14.37:g.102698908T>G	ENSP00000355304:p.His277Pro		B2R6Z4|B7Z7P6|E7ER76|E7ERR8|Q92790|Q93067	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.H277P	ENST00000361847.2	37	c.830	CCDS9971.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.70|12.70	2.015595|2.015595	0.35511|0.35511	.|.	.|.	ENSG00000080823|ENSG00000080823	ENST00000193029;ENST00000522874;ENST00000361847;ENST00000524214|ENST00000519058	T;T;T;T|.	0.64803|.	0.98;-0.12;-0.12;-0.12|.	5.5|5.5	4.35|4.35	0.52113|0.52113	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.314406|.	0.35096|.	N|.	0.003460|.	T|T	0.44117|0.44117	0.1278|0.1278	L|L	0.29908|0.29908	0.895|0.895	0.35670|0.35670	D|D	0.813208|0.813208	P;P|.	0.48230|.	0.853;0.907|.	P;P|.	0.51266|.	0.611;0.664|.	T|T	0.50127|0.50127	-0.8864|-0.8864	10|5	0.45353|.	T|.	0.12|.	0.2914|0.2914	8.5818|8.5818	0.33632|0.33632	0.0:0.1483:0.0:0.8517|0.0:0.1483:0.0:0.8517	.|.	247;277|.	E7ERR8;Q9UQ07|.	.;MOK_HUMAN|.	P|P	43;276;277;247|10	ENSP00000193029:H43P;ENSP00000429469:H276P;ENSP00000355304:H277P;ENSP00000428942:H247P|.	ENSP00000193029:H43P|.	H|T	-|-	2|1	0|0	RAGE|RAGE	101768661|101768661	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.927000|0.927000	0.56198|0.56198	3.645000|3.645000	0.54389|0.54389	0.931000|0.931000	0.37242|0.37242	-0.464000|-0.464000	0.05259|0.05259	CAC|ACC	MOK	-	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	ENSG00000080823		0.572	MOK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MOK	HGNC	protein_coding	OTTHUMT00000380848.3	281	0.35	1	T			102698908	102698908	-1	no_errors	ENST00000361847	ensembl	human	known	69_37n	missense	249	11.03	31	SNP	1.000	G
MORC2	22880	genome.wustl.edu	37	22	31328302	31328302	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:31328302T>G	ENST00000397641.3	-	24	3250				MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Intron			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2							cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGGGCAGGGGTGGGGGAATGA	0.483																																						dbGAP											0													82.0	78.0	80.0					22																	31328302		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2841+43A>C	22.37:g.31328302T>G			B2RNB1|Q9UF28|Q9Y6V2	RNA	SNP	-	NULL	ENST00000397641.3	37	NULL		22																																																																																			MORC2-AS1	-	-	ENSG00000235989		0.483	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2-AS1	HGNC	protein_coding	OTTHUMT00000321710.2	146	0.67	1	T	NM_014941		31328302	31328302	+1	no_errors	ENST00000441558	ensembl	human	known	69_37n	rna	69	17.86	15	SNP	0.000	G
MORN3	283385	genome.wustl.edu	37	12	122107341	122107341	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:122107341A>C	ENST00000355329.3	-	1	219	c.49T>G	c.(49-51)Tgg>Ggg	p.W17G		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	17						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TTCCGGTCCCACCCCTTCCAC	0.582																																						dbGAP											0													128.0	114.0	118.0					12																	122107341		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.49T>G	12.37:g.122107341A>C	ENSP00000347486:p.Trp17Gly		Q86YQ9	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.W17G	ENST00000355329.3	37	c.49	CCDS31917.1	12	.	.	.	.	.	.	.	.	.	.	A	14.98	2.696344	0.48202	.	.	ENSG00000139714	ENST00000355329	T	0.71934	-0.61	5.31	5.31	0.75309	.	0.074847	0.56097	D	0.000021	D	0.82728	0.5100	M	0.82517	2.595	0.49299	D	0.999779	D	0.89917	1.0	D	0.80764	0.994	T	0.81328	-0.0982	10	0.22706	T	0.39	.	11.9105	0.52737	1.0:0.0:0.0:0.0	.	17	Q6PF18	MORN3_HUMAN	G	17	ENSP00000347486:W17G	ENSP00000347486:W17G	W	-	1	0	MORN3	120591724	0.996000	0.38824	0.941000	0.38009	0.875000	0.50365	3.889000	0.56212	2.135000	0.66039	0.374000	0.22700	TGG	MORN3	-	NULL	ENSG00000139714		0.582	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN3	HGNC	protein_coding	OTTHUMT00000402154.1	92	0.00	0	A	NM_173855		122107341	122107341	-1	no_errors	ENST00000355329	ensembl	human	known	69_37n	missense	140	17.16	29	SNP	0.971	C
MPL	4352	genome.wustl.edu	37	1	43818359	43818359	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:43818359A>C	ENST00000372470.3	+	12	1866	c.1824A>C	c.(1822-1824)ccA>ccC	p.P608P	RP1-92O14.3_ENST00000424948.1_RNA	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	608					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	CTGTGTGCCCACCCATGGCTG	0.582			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)	dbGAP	yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	L	0													121.0	105.0	110.0					1																	43818359		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.1824A>C	1.37:g.43818359A>C			Q5JUZ0	Silent	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.P608	ENST00000372470.3	37	c.1824	CCDS483.1	1																																																																																			MPL	-	NULL	ENSG00000117400		0.582	MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPL	HGNC	protein_coding	OTTHUMT00000019522.1	120	0.81	1	A	NM_005373		43818359	43818359	+1	no_errors	ENST00000372470	ensembl	human	known	69_37n	silent	84	17.65	18	SNP	0.378	C
MPP2	4355	genome.wustl.edu	37	17	41955329	41955329	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:41955329A>C	ENST00000461854.1	-	14	1662	c.1577T>G	c.(1576-1578)gTg>gGg	p.V526G	MPP2_ENST00000520305.1_Missense_Mutation_p.V363G|MPP2_ENST00000523501.1_Missense_Mutation_p.V491G|MPP2_ENST00000518766.1_Missense_Mutation_p.V547G|MPP2_ENST00000536246.1_Missense_Mutation_p.V491G|MPP2_ENST00000377184.3_Missense_Mutation_p.V519G|MPP2_ENST00000269095.4_Missense_Mutation_p.V502G			Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	526	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GCTCTCCTCCACTGTCCGTCT	0.632																																						dbGAP											0													59.0	47.0	51.0					17																	41955329		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11471.1, CCDS62206.1, CCDS62207.1, CCDS62208.1, CCDS62209.1, CCDS62210.1	17q12-q21	2008-07-18			ENSG00000108852	ENSG00000108852			7220	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 2"", ""discs large, homolog 2"""	600723		DLG2		7590743	Standard	NM_001278370		Approved	DKFZp761D0712	uc002ieo.1	Q14168	OTTHUMG00000133840	ENST00000461854.1:c.1577T>G	17.37:g.41955329A>C	ENSP00000428286:p.Val526Gly		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,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.V526G	ENST00000461854.1	37	c.1577		17	.	.	.	.	.	.	.	.	.	.	a	25.1	4.602077	0.87055	.	.	ENSG00000108852	ENST00000377184;ENST00000269095;ENST00000461854;ENST00000520305;ENST00000523501;ENST00000536246;ENST00000518766	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	5.21	5.21	0.72293	.	.	.	.	.	T	0.42245	0.1194	M	0.79123	2.44	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75020	0.985;0.975	T	0.41360	-0.9513	9	0.87932	D	0	.	13.1024	0.59228	1.0:0.0:0.0:0.0	.	547;519	E7EV80;Q14168-3	.;.	G	519;502;526;363;491;491;547	ENSP00000366389:V519G;ENSP00000269095:V502G;ENSP00000428286:V526G;ENSP00000428136:V363G;ENSP00000430540:V491G;ENSP00000438012:V491G;ENSP00000428182:V547G	ENSP00000269095:V502G	V	-	2	0	MPP2	39310855	1.000000	0.71417	0.995000	0.50966	0.958000	0.62258	9.222000	0.95196	1.977000	0.57605	0.454000	0.30748	GTG	MPP2	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	ENSG00000108852		0.632	MPP2-003	KNOWN	non_canonical_polymorphism|basic	protein_coding	MPP2	HGNC	protein_coding	OTTHUMT00000258388.2	63	0.00	0	A	NM_005374		41955329	41955329	-1	no_errors	ENST00000461854	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	C
MPP4	58538	genome.wustl.edu	37	2	202539951	202539951	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:202539951T>G	ENST00000409474.3	-	11	1180	c.973A>C	c.(973-975)Acc>Ccc	p.T325P	MPP4_ENST00000447335.2_Missense_Mutation_p.T325P|MPP4_ENST00000315506.7_Missense_Mutation_p.T312P|MPP4_ENST00000409143.1_Missense_Mutation_p.T298P|MPP4_ENST00000396886.3_Missense_Mutation_p.T281P|MPP4_ENST00000359962.5_Missense_Mutation_p.T325P|MPP4_ENST00000428900.2_Missense_Mutation_p.T325P	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	325					protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						TTGAGGCAGGTGTGAGGCTGG	0.448																																						dbGAP											0													60.0	62.0	62.0					2																	202539951		1923	4115	6038	-	-	-	SO:0001583	missense	0			AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.973A>C	2.37:g.202539951T>G	ENSP00000387278:p.Thr325Pro		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.T325P	ENST00000409474.3	37	c.973	CCDS46491.1	2	.	.	.	.	.	.	.	.	.	.	T	16.97	3.270016	0.59540	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	4.65	2.2	0.27929	Src homology-3 domain (1);	0.972935	0.08453	N	0.943585	T	0.79627	0.4478	L	0.46157	1.445	0.29561	N	0.850613	P;B;P;P;P;P;P	0.43542	0.81;0.012;0.712;0.712;0.81;0.574;0.712	P;B;B;B;P;B;B	0.47673	0.554;0.009;0.352;0.352;0.554;0.352;0.352	T	0.69914	-0.5016	10	0.49607	T	0.09	.	1.815	0.03099	0.2694:0.0816:0.1434:0.5056	.	298;281;325;325;312;325;325	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8	.;.;.;.;.;.;MPP4_HUMAN	P	325;312;281;325;254;325;298;325	ENSP00000387278:T325P;ENSP00000319363:T312P;ENSP00000353047:T325P;ENSP00000416781:T325P;ENSP00000387293:T298P;ENSP00000406160:T325P	ENSP00000319363:T312P	T	-	1	0	MPP4	202248196	0.053000	0.20554	0.769000	0.31535	0.826000	0.46750	-0.146000	0.10250	0.276000	0.22118	0.454000	0.30748	ACC	MPP4	-	superfamily_SH3_domain	ENSG00000082126		0.448	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MPP4	HGNC	protein_coding	OTTHUMT00000335748.2	137	0.00	0	T			202539951	202539951	-1	no_errors	ENST00000359962	ensembl	human	known	69_37n	missense	105	18.46	24	SNP	0.695	G
MRPS15	64960	genome.wustl.edu	37	1	36921825	36921825	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:36921825T>G	ENST00000373116.5	-	7	760	c.599A>C	c.(598-600)cAc>cCc	p.H200P	MRPS15_ENST00000488606.1_5'UTR	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	200					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAATCGGCGGTGGGCTCTTCG	0.532																																						dbGAP											0													65.0	63.0	64.0					1																	36921825		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.599A>C	1.37:g.36921825T>G	ENSP00000362208:p.His200Pro		B2RD82|Q9H2K1	Missense_Mutation	SNP	pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd	p.H200P	ENST00000373116.5	37	c.599	CCDS411.1	1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135539	0.77662	.	.	ENSG00000116898	ENST00000373116	.	.	.	6.17	4.99	0.66335	.	0.101142	0.64402	D	0.000006	T	0.70272	0.3205	M	0.69823	2.125	0.41592	D	0.988808	D	0.76494	0.999	D	0.66196	0.942	T	0.69639	-0.5091	9	0.34782	T	0.22	-7.3379	11.0352	0.47797	0.0:0.0:0.285:0.715	.	200	P82914	RT15_HUMAN	P	200	.	ENSP00000362208:H200P	H	-	2	0	MRPS15	36694412	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	6.198000	0.72106	2.371000	0.80710	0.533000	0.62120	CAC	MRPS15	-	NULL	ENSG00000116898		0.532	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS15	HGNC	protein_coding	OTTHUMT00000022052.2	116	0.00	0	T	NM_031280		36921825	36921825	-1	no_errors	ENST00000373116	ensembl	human	known	69_37n	missense	105	26.57	38	SNP	1.000	G
MSI1	4440	genome.wustl.edu	37	12	120791117	120791117	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:120791117T>G	ENST00000257552.2	-	10	806	c.718A>C	c.(718-720)Acc>Ccc	p.T240P	MSI1_ENST00000546622.1_5'Flank	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	240					epithelial cell differentiation (GO:0030855)|nervous system development (GO:0007399)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AACTGGTAGGTGTAGCCAGGG	0.607																																						dbGAP											0													140.0	135.0	137.0					12																	120791117		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB012851	CCDS9196.1	12q24	2013-07-16	2012-12-13					"""RNA binding motif (RRM) containing"""	7330	protein-coding gene	gene with protein product		603328	"""Musashi (Drosophila) homolog 1"", ""musashi homolog 1 (Drosophila)"""			9790759	Standard	NM_002442		Approved		uc001tye.2	O43347	OTTHUMG00000169344	ENST00000257552.2:c.718A>C	12.37:g.120791117T>G	ENSP00000257552:p.Thr240Pro		Q96PU0|Q96PU1|Q96PU2|Q96PU3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T240P	ENST00000257552.2	37	c.718	CCDS9196.1	12	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128221	0.77549	.	.	ENSG00000135097	ENST00000257552	T	0.25250	1.81	4.77	3.54	0.40534	.	0.000000	0.64402	D	0.000003	T	0.39358	0.1075	M	0.62723	1.935	0.52099	D	0.999949	D	0.56968	0.978	P	0.58266	0.836	T	0.13899	-1.0492	10	0.35671	T	0.21	.	11.0815	0.48062	0.0:0.0:0.1551:0.8449	.	240	O43347	MSI1H_HUMAN	P	240	ENSP00000257552:T240P	ENSP00000257552:T240P	T	-	1	0	MSI1	119275500	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.595000	0.61048	1.759000	0.51996	0.374000	0.22700	ACC	MSI1	-	NULL	ENSG00000135097		0.607	MSI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSI1	HGNC	protein_coding	OTTHUMT00000403629.1	126	0.00	0	T	NM_002442		120791117	120791117	-1	no_errors	ENST00000257552	ensembl	human	known	69_37n	missense	82	15.31	15	SNP	1.000	G
MSS51	118490	genome.wustl.edu	37	10	75184908	75184908	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:75184908T>G	ENST00000372912.1	-	5	1113	c.1111A>C	c.(1111-1113)Acc>Ccc	p.T371P	MSS51_ENST00000299432.2_Missense_Mutation_p.T371P			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	371					social behavior (GO:0035176)		metal ion binding (GO:0046872)										AGCAGCAGGGTGGGCAGCCAA	0.433																																						dbGAP											0													88.0	92.0	90.0					10																	75184908		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.1111A>C	10.37:g.75184908T>G	ENSP00000362003:p.Thr371Pro		A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.T371P	ENST00000372912.1	37	c.1111	CCDS31221.1	10	.	.	.	.	.	.	.	.	.	.	T	25.5	4.639794	0.87760	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.66638	-0.22;-0.22	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.79545	0.4464	M	0.68593	2.085	0.50467	D	0.999872	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.81523	-0.0894	10	0.72032	D	0.01	-11.8668	13.2775	0.60196	0.0:0.0:0.0:1.0	.	150;371	Q4VC12-2;Q4VC12	.;ZMY17_HUMAN	P	371	ENSP00000299432:T371P;ENSP00000362003:T371P	ENSP00000299432:T371P	T	-	1	0	ZMYND17	74854914	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.812000	0.69194	2.230000	0.72887	0.528000	0.53228	ACC	MSS51	-	NULL	ENSG00000166343		0.433	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MSS51	HGNC	protein_coding	OTTHUMT00000048652.3	93	0.00	0	T	NM_178451		75184908	75184908	-1	no_errors	ENST00000299432	ensembl	human	known	69_37n	missense	111	13.28	17	SNP	1.000	G
MSS51	118490	genome.wustl.edu	37	10	75185690	75185690	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:75185690T>G	ENST00000372912.1	-	4	950	c.948A>C	c.(946-948)tcA>tcC	p.S316S	MSS51_ENST00000299432.2_Silent_p.S316S|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	316					social behavior (GO:0035176)		metal ion binding (GO:0046872)										GTTCCAGGGGTGAAGTTGAGG	0.532																																						dbGAP											0													83.0	74.0	77.0					10																	75185690		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.948A>C	10.37:g.75185690T>G			A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.T173P	ENST00000372912.1	37	c.517	CCDS31221.1	10																																																																																			MSS51	-	NULL	ENSG00000166343		0.532	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MSS51	HGNC	protein_coding	OTTHUMT00000048652.3	102	0.00	0	T	NM_178451		75185690	75185690	-1	no_errors	ENST00000487126	ensembl	human	known	69_37n	missense	72	20.00	18	SNP	0.008	G
MT-ATP6	4508	genome.wustl.edu	37	M	8534	8534	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrM:8534A>G	ENST00000361899.2	+	1	8	c.8A>G	c.(7-9)gAa>gGa	p.E3G	MT-TN_ENST00000387400.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-ATP8_ENST00000361851.1_Missense_Mutation_p.K57E			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	3					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						CAAAATGAACGAAAATCTGTT	0.413																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.8A>G	M.37:g.8534A>G	ENSP00000354632:p.Glu3Gly		Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.E3G	ENST00000361899.2	37	c.8		MT																																																																																			MT-ATP6	-	NULL	ENSG00000198899		0.413	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		32	0.00	0	A	YP_003024031		8534	8534	+1	no_errors	ENST00000361899	ensembl	human	known	69_37n	missense	5	28.57	2	SNP	NULL	G
MT-ATP6	4508	genome.wustl.edu	37	M	9175	9175	+	Silent	SNP	C	C	T			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrM:9175C>T	ENST00000361899.2	+	1	649	c.649C>T	c.(649-651)Cta>Tta	p.L217L	MT-TH_ENST00000387441.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-CO3_ENST00000362079.2_5'Flank			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	217			L -> P (in LS and MIBSN). {ECO:0000269|PubMed:7668837, ECO:0000269|PubMed:9270604, ECO:0000269|PubMed:9501263}.		ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						TTTTCACACTTCTAGTAAGCC	0.448																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.649C>T	M.37:g.9175C>T			Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Silent	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.L217	ENST00000361899.2	37	c.649		MT																																																																																			MT-ATP6	-	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	ENSG00000198899		0.448	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		37	0.00	0	C	YP_003024031		9175	9175	+1	no_errors	ENST00000361899	ensembl	human	known	69_37n	silent	7	22.22	2	SNP	NULL	T
MT-CO3	4514	genome.wustl.edu	37	M	9911	9911	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrM:9911C>A	ENST00000362079.2	+	1	705	c.705C>A	c.(703-705)ttC>ttA	p.F235L	MT-TH_ENST00000387441.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TL2_ENST00000387456.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-ND5_ENST00000361567.2_5'Flank			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	235					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						CACTTTGGCTTCGAAGCCGCC	0.413																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.705C>A	M.37:g.9911C>A	ENSP00000354982:p.Phe235Leu		Q14Y83	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su3,superfamily_Cyt_c_oxidase_su3,pfscan_Cyt_c_oxidase_su3	p.F235L	ENST00000362079.2	37	c.705		MT																																																																																			MT-CO3	-	pfam_Cyt_c_oxidase_su3,superfamily_Cyt_c_oxidase_su3,pfscan_Cyt_c_oxidase_su3	ENSG00000198938		0.413	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	MT-CO3	HGNC	protein_coding		25	0.00	0	C	YP_003024032		9911	9911	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000362079	ensembl	human	known	69_37n	missense	2	50.00	2	SNP	NULL	A
MT-ND3	4537	genome.wustl.edu	37	M	10375	10375	+	Silent	SNP	G	G	A			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrM:10375G>A	ENST00000361227.2	+	1	317	c.317G>A	c.(316-318)tGa>tAa	p.*106*	MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-ND5_ENST00000361567.2_5'Flank			P03897	NU3M_HUMAN	mitochondrially encoded NADH dehydrogenase 3	106					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)										GGCCTATGAGTGACTACAAAA	0.363																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198840	ENSG00000198840	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7458	protein-coding gene	gene with protein product	"""complex I ND3 subunit"", ""NADH-ubiquinone oxidoreductase chain 3"""	516002	"""NADH dehydrogenase 3"""	MTND3			Standard			Approved	ND3, NAD3		P03897		ENST00000361227.2:c.317G>A	M.37:g.10375G>A				Nonsense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase_su3	p.W106*	ENST00000361227.2	37	c.317		MT																																																																																			MT-ND3	-	pfam_NADH_UbQ/plastoQ_OxRdtase_su3	ENSG00000198840		0.363	MT-ND3-201	KNOWN	basic|appris_principal	protein_coding	MT-ND3	HGNC	protein_coding		31	0.00	0	G	YP_003024033		10375	10375	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361227	ensembl	human	known	69_37n	nonsense	5	28.57	2	SNP	NULL	A
MT-ND4	4538	genome.wustl.edu	37	M	11964	11964	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrM:11964T>A	ENST00000361381.2	+	1	1205	c.1205T>A	c.(1204-1206)gTc>gAc	p.V402D	MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-CYB_ENST00000361789.2_5'Flank			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	402					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						CAACATACTAGTCACAGCCCT	0.443																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.1205T>A	M.37:g.11964T>A	ENSP00000354961:p.Val402Asp		Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_UbQ_OxRdtase_chain4_N,prints_NADH_UbQ_OxRdtase,tigrfam_NADH_Q_OxRdtase_chainM/4	p.V402D	ENST00000361381.2	37	c.1205		MT																																																																																			MT-ND4	-	tigrfam_NADH_Q_OxRdtase_chainM/4	ENSG00000198886		0.443	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	MT-ND4	HGNC	protein_coding		30	0.00	0	T	YP_003024035		11964	11964	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361381	ensembl	human	known	69_37n	missense	6	25.00	2	SNP	NULL	A
MT-CYB	4519	genome.wustl.edu	37	M	14895	14895	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrM:14895T>C	ENST00000361789.2	+	1	149	c.149T>C	c.(148-150)tTc>tCc	p.F50S	MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-ND6_ENST00000361681.2_5'Flank|MT-TT_ENST00000387460.2_RNA			P00156	CYB_HUMAN	mitochondrially encoded cytochrome b	50					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						CACAGGACTATTCCTAGCCAT	0.517																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198727	ENSG00000198727		"""Cytochrome b genes"", ""Mitochondrial respiratory chain complex / Complex III"""	7427	protein-coding gene	gene with protein product		516020	"""cytochrome b"""	MTCYB			Standard			Approved	COB, CYTB, UQCR3		P00156		ENST00000361789.2:c.149T>C	M.37:g.14895T>C	ENSP00000354554:p.Phe50Ser		Q34786|Q8HBR6|Q8HNQ0|Q8HNQ1|Q8HNQ9|Q8HNR4|Q8HNR7|Q8W7V8|Q8WCV9|Q8WCY2|Q8WCY7|Q8WCY8|Q9B1A6|Q9B1B6|Q9B1B8|Q9B1D4|Q9B1X6|Q9B2V0|Q9B2V8|Q9B2W0|Q9B2W3|Q9B2W8|Q9B2X1|Q9B2X7|Q9B2X9|Q9B2Y3|Q9B2Z0|Q9B2Z4|Q9T6H6|Q9T9Y0|Q9TEH4	Missense_Mutation	SNP	pfam_Cyt_b/b6_C,pfam_Di-haem_cyt_TM,superfamily_Di-haem_cyt_TM,superfamily_Cyt_b/b6_C,pfscan_Cyt_b/b6_N,pfscan_Cyt_b/b6_C	p.F50S	ENST00000361789.2	37	c.149		MT																																																																																			MT-CYB	-	pfam_Di-haem_cyt_TM,superfamily_Di-haem_cyt_TM,pfscan_Cyt_b/b6_N	ENSG00000198727		0.517	MT-CYB-201	KNOWN	basic|appris_principal	protein_coding	MT-CYB	HGNC	protein_coding		61	0.00	0	T	YP_003024038		14895	14895	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361789	ensembl	human	known	69_37n	missense	61	35.11	33	SNP	NULL	C
MTA2	9219	genome.wustl.edu	37	11	62361441	62361441	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:62361441A>C	ENST00000278823.2	-	18	2302	c.1913T>G	c.(1912-1914)gTg>gGg	p.V638G	MTA2_ENST00000527204.1_Missense_Mutation_p.V465G|MIR3654_ENST00000496634.2_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.V465G|TUT1_ENST00000476907.1_5'Flank|TUT1_ENST00000308436.7_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	638					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CGTTGGCTTCACCTTCAGGGG	0.602											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													136.0	117.0	123.0					11																	62361441		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1913T>G	11.37:g.62361441A>C	ENSP00000278823:p.Val638Gly	1060	Q68DB1|Q9UQB5	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.V638G	ENST00000278823.2	37	c.1913	CCDS8022.1	11	.	.	.	.	.	.	.	.	.	.	A	17.15	3.315976	0.60524	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.47869	1.42;0.83;0.83	5.87	5.87	0.94306	.	0.301963	0.31566	N	0.007439	T	0.33469	0.0864	N	0.22421	0.69	0.80722	D	1	B	0.31100	0.308	B	0.28784	0.094	T	0.14309	-1.0477	10	0.22109	T	0.4	-22.8438	14.2368	0.65932	1.0:0.0:0.0:0.0	.	638	O94776	MTA2_HUMAN	G	638;465;465	ENSP00000278823:V638G;ENSP00000431346:V465G;ENSP00000431797:V465G	ENSP00000278823:V638G	V	-	2	0	MTA2	62118017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.626000	0.83164	2.242000	0.73789	0.528000	0.53228	GTG	MTA2	-	NULL	ENSG00000149480		0.602	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTA2	HGNC	protein_coding	OTTHUMT00000395578.1	127	0.00	0	A	NM_004739		62361441	62361441	-1	no_errors	ENST00000278823	ensembl	human	known	69_37n	missense	82	16.00	16	SNP	1.000	C
MTMR11	10903	genome.wustl.edu	37	1	149908534	149908534	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:149908534A>C	ENST00000439741.2	-	1	257	c.7T>G	c.(7-9)Tgg>Ggg	p.W3G	MTMR11_ENST00000406732.3_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.W3G|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_5'Flank	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	3							phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CGGCCCCCCCACCACATTTCT	0.592																																						dbGAP											0													37.0	37.0	37.0					1																	149908534		692	1591	2283	-	-	-	SO:0001583	missense	0			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.7T>G	1.37:g.149908534A>C	ENSP00000391668:p.Trp3Gly		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotub-related	p.W3G	ENST00000439741.2	37	c.7	CCDS53360.1	1	.	.	.	.	.	.	.	.	.	.	A	17.10	3.301866	0.60195	.	.	ENSG00000014914	ENST00000439741;ENST00000361405	D;T	0.96041	-3.89;0.37	4.74	4.74	0.60224	.	.	.	.	.	D	0.92625	0.7657	L	0.44542	1.39	0.80722	D	1	D	0.58268	0.982	P	0.53006	0.715	D	0.91849	0.5490	8	.	.	.	.	10.5529	0.45099	1.0:0.0:0.0:0.0	.	3	A4FU01	MTMRB_HUMAN	G	3	ENSP00000391668:W3G;ENSP00000354941:W3G	.	W	-	1	0	MTMR11	148175158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.711000	0.47177	1.983000	0.57843	0.460000	0.39030	TGG	MTMR11	-	NULL	ENSG00000014914		0.592	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding		87	0.00	0	A	NM_181873		149908534	149908534	-1	no_errors	ENST00000439741	ensembl	human	known	69_37n	missense	367	14.09	61	SNP	1.000	C
MTMR3	8897	genome.wustl.edu	37	22	30413991	30413991	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:30413991A>C	ENST00000401950.2	+	16	2092	c.1750A>C	c.(1750-1752)Acc>Ccc	p.T584P	MTMR3_ENST00000406629.1_Missense_Mutation_p.T584P|MTMR3_ENST00000351488.3_Missense_Mutation_p.T584P|MTMR3_ENST00000333027.3_Missense_Mutation_p.T584P|CTA-85E5.10_ENST00000429350.1_RNA|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.T448P	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	584					peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ATCCCCAACCACCCCTGTGGA	0.642																																						dbGAP											0													162.0	119.0	134.0					22																	30413991		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.1750A>C	22.37:g.30413991A>C	ENSP00000384651:p.Thr584Pro		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.T584P	ENST00000401950.2	37	c.1750	CCDS13870.1	22	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313517	0.60414	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.93811	-3.09;-3.07;-3.29;-3.12;-3.07	5.93	3.82	0.43975	.	0.204155	0.50627	D	0.000107	D	0.91379	0.7280	L	0.55103	1.725	0.80722	D	1	P;B;P	0.39181	0.663;0.192;0.663	B;B;B	0.42798	0.398;0.099;0.398	D	0.88137	0.2842	10	0.49607	T	0.09	.	9.4338	0.38626	0.8572:0.0:0.1428:0.0	.	584;584;584	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	P	584;584;448;584;584	ENSP00000384651:T584P;ENSP00000331649:T584P;ENSP00000318070:T448P;ENSP00000307271:T584P;ENSP00000384077:T584P	ENSP00000318070:T448P	T	+	1	0	MTMR3	28743991	1.000000	0.71417	0.892000	0.35008	0.977000	0.68977	4.849000	0.62882	0.507000	0.28148	0.482000	0.46254	ACC	MTMR3	-	NULL	ENSG00000100330		0.642	MTMR3-001	KNOWN	basic|CCDS	protein_coding	MTMR3	HGNC	protein_coding	OTTHUMT00000322066.1	85	0.00	0	A	NM_021090		30413991	30413991	+1	no_errors	ENST00000401950	ensembl	human	known	69_37n	missense	76	21.65	21	SNP	1.000	C
MTOR	2475	genome.wustl.edu	37	1	11317200	11317200	+	Silent	SNP	A	A	C	rs576735992	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:11317200A>C	ENST00000361445.4	-	4	370	c.294T>G	c.(292-294)ggT>ggG	p.G98G		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	98	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TGGCATTCCCACCTTCCACTC	0.517													A|||	58	0.0115815	0.003	0.0187	5008	,	,		18654	0.0238		0.0169	False		,,,				2504	0.0					dbGAP											0													64.0	54.0	57.0					1																	11317200		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.294T>G	1.37:g.11317200A>C			Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Silent	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.G98	ENST00000361445.4	37	c.294	CCDS127.1	1																																																																																			MTOR	-	superfamily_ARM-type_fold	ENSG00000198793		0.517	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	125	0.79	1	A	NM_004958		11317200	11317200	-1	no_errors	ENST00000361445	ensembl	human	known	69_37n	silent	68	19.05	16	SNP	0.999	C
MTR	4548	genome.wustl.edu	37	1	237054515	237054515	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:237054515T>G	ENST00000366577.5	+	29	3484	c.3090T>G	c.(3088-3090)ggT>ggG	p.G1030G	MTR_ENST00000535889.1_Silent_p.G979G	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1030	AdoMet activation. {ECO:0000255|PROSITE- ProRule:PRU00346}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GGGCCCGGGGTGTGGTTGGGT	0.527																																						dbGAP											0													108.0	113.0	111.0					1																	237054515		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.3090T>G	1.37:g.237054515T>G			A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH	p.G1030	ENST00000366577.5	37	c.3090	CCDS1614.1	1																																																																																			MTR	-	superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH	ENSG00000116984		0.527	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTR	HGNC	protein_coding	OTTHUMT00000096632.2	127	0.77	1	T	NM_000254		237054515	237054515	+1	no_errors	ENST00000366577	ensembl	human	known	69_37n	silent	209	11.02	26	SNP	0.144	G
MUC12	10071	genome.wustl.edu	37	7	100647932	100647932	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:100647932A>C	ENST00000379442.3	+	5	14517	c.14517A>C	c.(14515-14517)acA>acC	p.T4839T	MUC12_ENST00000536621.1_Silent_p.T4696T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4839	Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ATGGAATCACACCCTTACCTG	0.498																																						dbGAP											0													268.0	263.0	265.0					7																	100647932		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.14517A>C	7.37:g.100647932A>C			A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.T4839	ENST00000379442.3	37	c.14517		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.498	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	364	0.54	2	A	XM_379904		100647932	100647932	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	silent	281	12.46	40	SNP	0.001	C
MUC12	10071	genome.wustl.edu	37	7	100647981	100647981	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:100647981A>C	ENST00000379442.3	+	5	14566	c.14566A>C	c.(14566-14568)Acc>Ccc	p.T4856P	MUC12_ENST00000536621.1_Missense_Mutation_p.T4713P			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4856	Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AGAATCTACCACCTTCTATAT	0.483																																						dbGAP											0													185.0	182.0	183.0					7																	100647981		692	1591	2283	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.14566A>C	7.37:g.100647981A>C	ENSP00000368755:p.Thr4856Pro		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.T4856P	ENST00000379442.3	37	c.14566		7	.	.	.	.	.	.	.	.	.	.	a	0.014	-1.599454	0.00849	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12255	2.71;2.7	0.588	-1.18	0.09617	.	.	.	.	.	T	0.04770	0.0129	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.35201	-0.9798	7	0.22109	T	0.4	.	2.1847	0.03883	0.5362:0.0:0.2169:0.247	.	.	.	.	P	4856;4713	ENSP00000368755:T4856P;ENSP00000441929:T4713P	ENSP00000368755:T4856P	T	+	1	0	MUC12	100434701	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.402000	0.02499	-2.063000	0.00890	-1.226000	0.01582	ACC	MUC12	-	NULL	ENSG00000205277		0.483	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	312	0.32	1	A	XM_379904		100647981	100647981	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	194	10.96	24	SNP	0.000	C
MUC16	94025	genome.wustl.edu	37	19	8959700	8959700	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:8959700T>G	ENST00000397910.4	-	84	43635	c.43432A>C	c.(43432-43434)Acc>Ccc	p.T14478P	MUC16_ENST00000380951.5_Missense_Mutation_p.T1119P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22123	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGCCGGCGGGTGGTCACCTAT	0.577																																						dbGAP											0													70.0	72.0	72.0					19																	8959700		1998	4182	6180	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43432A>C	19.37:g.8959700T>G	ENSP00000381008:p.Thr14478Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T14478P	ENST00000397910.4	37	c.43432	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	T	13.96	2.394274	0.42410	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T	0.01902	4.57	3.47	-2.69	0.06022	.	.	.	.	.	T	0.03783	0.0107	L	0.36672	1.1	.	.	.	P;D	0.64830	0.94;0.994	B;P	0.53912	0.272;0.737	T	0.26744	-1.0094	8	0.52906	T	0.07	.	9.0165	0.36173	0.0:0.5475:0.0:0.4525	.	22123;14478	Q8WXI7;B5ME49	MUC16_HUMAN;.	P	14478;1119	ENSP00000381008:T14478P	ENSP00000370338:T1119P	T	-	1	0	MUC16	8820700	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.765000	0.01799	-0.694000	0.05113	0.402000	0.26972	ACC	MUC16	-	NULL	ENSG00000181143		0.577	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	138	0.71	1	T	NM_024690		8959700	8959700	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	147	17.88	32	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	8976743	8976743	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:8976743T>G	ENST00000397910.4	-	73	42526	c.42323A>C	c.(42322-42324)cAc>cCc	p.H14108P	MUC16_ENST00000380951.5_Missense_Mutation_p.H749P|MUC16_ENST00000596956.1_5'UTR	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14139	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCACCAGGTGCTGAAGGAC	0.547																																						dbGAP											0													89.0	88.0	88.0					19																	8976743		1929	4124	6053	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42323A>C	19.37:g.8976743T>G	ENSP00000381008:p.His14108Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.H14108P	ENST00000397910.4	37	c.42323	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	11.27|11.27	1.589677|1.589677	0.28357|0.28357	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.29142|.	1.58;1.58|.	4.37|4.37	-7.63|-7.63	0.01290|0.01290	SEA (1);|.	0.974886|.	0.08336|.	N|.	0.961616|.	T|T	0.44414|0.44414	0.1292|0.1292	M|M	0.72479|0.72479	2.2|2.2	.|.	.|.	.|.	B;D|.	0.56746|.	0.308;0.977|.	B;D|.	0.66351|.	0.202;0.943|.	T|T	0.45056|0.45056	-0.9287|-0.9287	8|4	.|.	.|.	.|.	.|.	4.8408|4.8408	0.13489|0.13489	0.3569:0.3875:0.0:0.2556|0.3569:0.3875:0.0:0.2556	.|.	21753;14108|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	P|P	14108;749|931	ENSP00000381008:H14108P;ENSP00000370338:H749P|.	.|.	H|T	-|-	2|1	0|0	MUC16|MUC16	8837743|8837743	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.025000|0.025000	0.11179|0.11179	-0.817000|-0.817000	0.04472|0.04472	-2.107000|-2.107000	0.00840|0.00840	-0.473000|-0.473000	0.04963|0.04963	CAC|ACC	MUC16	-	pfam_SEA	ENSG00000181143		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	256	0.39	1	T	NM_024690		8976743	8976743	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	207	11.54	27	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9046759	9046759	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:9046759T>G	ENST00000397910.4	-	5	35075	c.34872A>C	c.(34870-34872)ccA>ccC	p.P11624P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11626	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTATACTGGGTGGGATGGTTG	0.502																																						dbGAP											0													147.0	145.0	146.0					19																	9046759		2033	4187	6220	-	-	-	SO:0001819	synonymous_variant	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34872A>C	19.37:g.9046759T>G			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P11624	ENST00000397910.4	37	c.34872	CCDS54212.1	19																																																																																			MUC16	-	NULL	ENSG00000181143		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	244	0.40	1	T	NM_024690		9046759	9046759	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	silent	176	12.44	25	SNP	0.000	G
MUC16	94025	genome.wustl.edu	37	19	9071635	9071635	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:9071635T>G	ENST00000397910.4	-	3	16014	c.15811A>C	c.(15811-15813)Acc>Ccc	p.T5271P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5273	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGCTTGGGTGGTGATCGTC	0.517																																						dbGAP											0													180.0	176.0	177.0					19																	9071635		2068	4207	6275	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.15811A>C	19.37:g.9071635T>G	ENSP00000381008:p.Thr5271Pro		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.T5271P	ENST00000397910.4	37	c.15811	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	t	2.424	-0.332492	0.05314	.	.	ENSG00000181143	ENST00000397910	T	0.02579	4.24	1.76	0.713	0.18173	.	.	.	.	.	T	0.03390	0.0098	L	0.27053	0.805	.	.	.	D	0.62365	0.991	P	0.50136	0.632	T	0.42050	-0.9474	8	0.87932	D	0	.	4.7762	0.13180	0.0:0.0:0.3298:0.6702	.	5271	B5ME49	.	P	5271	ENSP00000381008:T5271P	ENSP00000381008:T5271P	T	-	1	0	MUC16	8932635	0.016000	0.18221	0.000000	0.03702	0.000000	0.00434	0.777000	0.26718	0.156000	0.19299	-0.559000	0.04183	ACC	MUC16	-	NULL	ENSG00000181143		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	305	0.33	1	T	NM_024690		9071635	9071635	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	272	12.14	38	SNP	0.000	G
MUC17	140453	genome.wustl.edu	37	7	100676639	100676639	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:100676639A>C	ENST00000306151.4	+	3	2006	c.1942A>C	c.(1942-1944)Acc>Ccc	p.T648P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	648	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAGGCTAGCACCCTTTCAAC	0.493																																						dbGAP											0													281.0	283.0	282.0					7																	100676639		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1942A>C	7.37:g.100676639A>C	ENSP00000302716:p.Thr648Pro		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.T648P	ENST00000306151.4	37	c.1942	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	A	1.278	-0.611208	0.03690	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.714	-1.43	0.08884	.	.	.	.	.	T	0.02047	0.0064	L	0.27053	0.805	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.45366	-0.9266	9	0.39692	T	0.17	.	3.0144	0.06054	0.5106:0.2741:0.2154:0.0	.	648	Q685J3	MUC17_HUMAN	P	648	ENSP00000302716:T648P	ENSP00000302716:T648P	T	+	1	0	MUC17	100463359	0.004000	0.15560	0.004000	0.12327	0.043000	0.13939	0.886000	0.28241	-0.966000	0.03587	0.324000	0.21423	ACC	MUC17	-	NULL	ENSG00000169876		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	144	0.00	0	A	NM_001040105		100676639	100676639	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	191	11.57	25	SNP	0.005	C
MUC2	4583	genome.wustl.edu	37	11	1087446	1087446	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:1087446T>G	ENST00000441003.2	+	24	3224	c.3197T>G	c.(3196-3198)gTg>gGg	p.V1066G	MUC2_ENST00000359061.5_Splice_Site_p.V1066G	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1066					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCTCCCCAGGTGGACCCCAAG	0.672																																						dbGAP											0													67.0	78.0	74.0					11																	1087446		2134	4227	6361	-	-	-	SO:0001630	splice_region_variant	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3196-1T>G	11.37:g.1087446T>G			Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V1066G	ENST00000441003.2	37	c.3197		11	.	.	.	.	.	.	.	.	.	.	t	14.01	2.408775	0.42715	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	D;D	0.83673	-1.75;-1.75	3.62	3.62	0.41486	.	0.216596	0.27117	U	0.020844	D	0.94981	0.8376	H	0.99732	4.735	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96248	0.9181	10	0.87932	D	0	.	12.7191	0.57131	0.0:0.0:0.0:1.0	.	1066	E7EUV1	.	G	1066	ENSP00000415183:V1066G;ENSP00000351956:V1066G	ENSP00000351956:V1066G	V	+	2	0	MUC2	1077446	1.000000	0.71417	1.000000	0.80357	0.575000	0.36095	7.649000	0.83500	1.649000	0.50652	0.393000	0.25936	GTG	MUC2	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000198788		0.672	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	125	0.00	0	T	NM_002457	Missense_Mutation	1087446	1087446	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	missense	57	24.00	18	SNP	1.000	G
MUC2	4583	genome.wustl.edu	37	11	1093528	1093528	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:1093528A>C	ENST00000441003.2	+	30	5374	c.5347A>C	c.(5347-5349)Acc>Ccc	p.T1783P	MUC2_ENST00000333592.6_Missense_Mutation_p.T71P|MUC2_ENST00000359061.5_Missense_Mutation_p.T1739P|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	cccaacacccaccagcacaaa	0.602																																						dbGAP											0													104.0	126.0	118.0					11																	1093528		2176	4255	6431	-	-	-	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5347A>C	11.37:g.1093528A>C	ENSP00000415183:p.Thr1783Pro		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T1783P	ENST00000441003.2	37	c.5347		11	.	.	.	.	.	.	.	.	.	.	A	8.408	0.843579	0.16963	.	.	ENSG00000198788	ENST00000441003;ENST00000359061;ENST00000333592	T;T;T	0.13196	2.95;2.61;2.79	1.65	0.314	0.15847	.	2587.340000	0.00735	N	0.000974	T	0.09862	0.0242	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.26780	-1.0093	9	0.34782	T	0.22	.	4.7711	0.13157	0.7229:0.0:0.0:0.277	.	1783	E7EUV1	.	P	1783;1739;71	ENSP00000415183:T1783P;ENSP00000351956:T1739P;ENSP00000331373:T71P	ENSP00000331373:T71P	T	+	1	0	MUC2	1083528	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	0.755000	0.26405	-0.086000	0.12550	0.164000	0.16699	ACC	MUC2	-	NULL	ENSG00000198788		0.602	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	859	0.58	5	A	NM_002457		1093528	1093528	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	missense	402	12.36	57	SNP	0.049	C
MUC2	4583	genome.wustl.edu	37	11	1093915	1093915	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:1093915A>C	ENST00000441003.2	+	30	5761	c.5734A>C	c.(5734-5736)Acc>Ccc	p.T1912P	MUC2_ENST00000333592.6_Missense_Mutation_p.T200P|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4274					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCGCCCAGCACCACCACGTC	0.652																																						dbGAP											0													73.0	101.0	92.0					11																	1093915		2186	4270	6456	-	-	-	SO:0001583	missense	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5734A>C	11.37:g.1093915A>C	ENSP00000415183:p.Thr1912Pro		Q14878	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T1912P	ENST00000441003.2	37	c.5734		11	.	.	.	.	.	.	.	.	.	.	A	5.112	0.206204	0.09704	.	.	ENSG00000198788	ENST00000441003;ENST00000333592	T;T	0.12879	2.64;3.16	1.64	0.446	0.16602	.	.	.	.	.	T	0.08088	0.0202	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36768	-0.9734	9	0.33141	T	0.24	.	5.3825	0.16199	0.6435:0.3565:0.0:0.0	.	1912	E7EUV1	.	P	1912;200	ENSP00000415183:T1912P;ENSP00000331373:T200P	ENSP00000331373:T200P	T	+	1	0	MUC2	1083915	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	0.231000	0.17872	-0.080000	0.12685	0.254000	0.18369	ACC	MUC2	-	NULL	ENSG00000198788		0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	156	0.63	1	A	NM_002457		1093915	1093915	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	missense	81	20.59	21	SNP	0.001	C
MUC20	200958	genome.wustl.edu	37	3	195447928	195447928	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:195447928A>G	ENST00000447234.2	+	1	176	c.50A>G	c.(49-51)gAg>gGg	p.E17G	MUC20_ENST00000436408.1_Missense_Mutation_p.E17G|MUC20_ENST00000320736.6_Missense_Mutation_p.E17G|MUC20_ENST00000485430.1_3'UTR	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	17					activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TTCTGCTGGGAGGTTGGGGTC	0.612																																						dbGAP											0													55.0	57.0	56.0					3																	195447928		1910	4143	6053	-	-	-	SO:0001583	missense	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.50A>G	3.37:g.195447928A>G	ENSP00000414350:p.Glu17Gly		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	NULL	p.E17G	ENST00000447234.2	37	c.50		3	.	.	.	.	.	.	.	.	.	.	A	13.56	2.274437	0.40194	.	.	ENSG00000176945	ENST00000447234;ENST00000320736;ENST00000436408	T;T;T	0.10763	2.85;2.84;3.02	2.77	1.57	0.23409	.	.	.	.	.	T	0.17109	0.0411	L	0.40543	1.245	0.09310	N	1	D	0.65815	0.995	P	0.61003	0.882	T	0.10965	-1.0607	9	0.72032	D	0.01	-0.8395	5.2361	0.15446	0.7442:0.0:0.0:0.2558	.	17	E9PH32	.	G	17	ENSP00000414350:E17G;ENSP00000325431:E17G;ENSP00000396774:E17G	ENSP00000325431:E17G	E	+	2	0	MUC20	196933599	0.071000	0.21146	0.047000	0.18901	0.559000	0.35586	0.060000	0.14342	0.443000	0.26582	0.379000	0.24179	GAG	MUC20	-	NULL	ENSG00000176945		0.612	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	389	0.51	2	A	NM_152673		195447928	195447928	+1	no_errors	ENST00000447234	ensembl	human	known	69_37n	missense	457	10.29	53	SNP	0.072	G
MUC4	4585	genome.wustl.edu	37	3	195505258	195505258	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:195505258A>G	ENST00000346145.4	-	2	190	c.151T>C	c.(151-153)Tcc>Ccc	p.S51P	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000463781.3_Missense_Mutation_p.S4287P|MUC4_ENST00000475231.1_Missense_Mutation_p.S4287P	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1044					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ATGGTCTGGGAGGTTGTGGGG	0.587																																						dbGAP											0													215.0	170.0	185.0					3																	195505258		2200	4294	6494	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.151T>C	3.37:g.195505258A>G	ENSP00000304207:p.Ser51Pro		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.S4287P	ENST00000346145.4	37	c.12859	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	a	14.43	2.533154	0.45073	.	.	ENSG00000145113	ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T	0.36699	1.43;1.42;1.24	3.53	-0.76	0.11041	.	1.340810	0.05125	N	0.491428	T	0.30854	0.0778	N	0.19112	0.55	0.09310	N	1	B;B;D	0.59767	0.053;0.015;0.986	B;B;P	0.51016	0.018;0.006;0.656	T	0.27157	-1.0082	9	.	.	.	-3.8354	6.4111	0.21692	0.535:0.0:0.465:0.0	.	4159;1044;51	E7ESK3;Q99102;Q99102-13	.;MUC4_HUMAN;.	P	51;4287;4287;1013	ENSP00000304207:S51P;ENSP00000417498:S4287P;ENSP00000420243:S4287P	.	S	-	1	0	MUC4	196990037	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.018000	0.12568	-0.120000	0.11809	0.515000	0.50301	TCC	MUC4	-	NULL	ENSG00000145113		0.587	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	305	0.65	2	A	NM_018406		195505258	195505258	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	268	13.50	42	SNP	0.000	G
MUC4	4585	genome.wustl.edu	37	3	195515552	195515552	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:195515552T>G	ENST00000463781.3	-	2	3358	c.2899A>C	c.(2899-2901)Acc>Ccc	p.T967P	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T967P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	972	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGGCCGTGGTGAAGGTTTTA	0.567																																						dbGAP											0													130.0	135.0	133.0					3																	195515552		2190	4264	6454	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2899A>C	3.37:g.195515552T>G	ENSP00000417498:p.Thr967Pro		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.T967P	ENST00000463781.3	37	c.2899	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	t	4.922	0.171259	0.09391	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.37235	1.21;1.22	2.34	-2.15	0.07102	.	3.753960	0.00868	N	0.001991	T	0.13114	0.0318	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.09015	-1.0694	10	0.35671	T	0.21	.	0.3639	0.00368	0.3761:0.1294:0.1912:0.3034	.	967	E7ESK3	.	P	967;967;941	ENSP00000417498:T967P;ENSP00000420243:T967P	ENSP00000376209:T941P	T	-	1	0	MUC4	196999947	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.217000	0.09253	-0.435000	0.07264	0.472000	0.43445	ACC	MUC4	-	NULL	ENSG00000145113		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	385	0.77	3	T	NM_018406		195515552	195515552	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	202	13.98	33	SNP	0.000	G
MUC4	4585	genome.wustl.edu	37	3	195516059	195516059	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:195516059T>G	ENST00000463781.3	-	2	2851	c.2392A>C	c.(2392-2394)Acc>Ccc	p.T798P	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T798P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	803	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCCGCTGAGGTGGTTCGTGAC	0.592																																						dbGAP											0													102.0	113.0	109.0					3																	195516059		2181	4275	6456	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2392A>C	3.37:g.195516059T>G	ENSP00000417498:p.Thr798Pro		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.T798P	ENST00000463781.3	37	c.2392	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	5.048	0.194529	0.09599	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.46819	0.86;0.88	2.85	-2.79	0.05841	.	1.681910	0.03758	N	0.257655	T	0.34890	0.0913	N	0.19112	0.55	0.09310	N	1	D;P	0.61080	0.989;0.94	P;B	0.50590	0.645;0.363	T	0.15896	-1.0421	10	0.31617	T	0.26	-0.9994	0.4818	0.00549	0.3612:0.1178:0.1853:0.3358	.	798;803	E7ESK3;Q99102	.;MUC4_HUMAN	P	798;798;772	ENSP00000417498:T798P;ENSP00000420243:T798P	ENSP00000376209:T772P	T	-	1	0	MUC4	197000454	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.611000	0.05622	-0.581000	0.05937	-0.289000	0.09944	ACC	MUC4	-	NULL	ENSG00000145113		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	292	0.34	1	T	NM_018406		195516059	195516059	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	199	20.00	50	SNP	0.000	G
MUC4	4585	genome.wustl.edu	37	3	195516437	195516437	+	Missense_Mutation	SNP	T	T	G	rs201233514		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:195516437T>G	ENST00000463781.3	-	2	2473	c.2014A>C	c.(2014-2016)Aca>Cca	p.T672P	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T672P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	677					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T672P(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCACTGGCTGTGAAGGAAGAA	0.577																																						dbGAP											1	Substitution - Missense(1)	skin(1)											126.0	139.0	134.0					3																	195516437		2070	4197	6267	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2014A>C	3.37:g.195516437T>G	ENSP00000417498:p.Thr672Pro		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.T672P	ENST00000463781.3	37	c.2014	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	6.032	0.374283	0.11409	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.46819	0.86;0.88	3.05	-5.65	0.02459	.	1.824330	0.03219	N	0.177288	T	0.30854	0.0778	N	0.14661	0.345	0.09310	N	1	D;P	0.56521	0.976;0.952	P;B	0.47402	0.546;0.302	T	0.28267	-1.0049	10	0.28530	T	0.3	.	4.8386	0.13476	0.6226:0.1063:0.0:0.2711	.	672;677	E7ESK3;Q99102	.;MUC4_HUMAN	P	672;672;646	ENSP00000417498:T672P;ENSP00000420243:T672P	ENSP00000376209:T646P	T	-	1	0	MUC4	197000832	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.394000	0.02518	-1.089000	0.03073	0.510000	0.49958	ACA	MUC4	-	NULL	ENSG00000145113		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	262	0.00	0	T	NM_018406		195516437	195516437	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	214	11.16	27	SNP	0.000	G
MUC6	4588	genome.wustl.edu	37	11	1016590	1016590	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:1016590T>G	ENST00000421673.2	-	31	6261	c.6211A>C	c.(6211-6213)Acc>Ccc	p.T2071P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2071	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTTGGCTGGTCCCACTGGTG	0.577																																						dbGAP											0													249.0	267.0	261.0					11																	1016590		2178	4269	6447	-	-	-	SO:0001583	missense	0			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6211A>C	11.37:g.1016590T>G	ENSP00000406861:p.Thr2071Pro		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.T2071P	ENST00000421673.2	37	c.6211	CCDS44513.1	11	.	.	.	.	.	.	.	.	.	.	T	11.81	1.750747	0.31046	.	.	ENSG00000184956	ENST00000421673	T	0.21543	2.0	2.46	2.46	0.29980	.	.	.	.	.	T	0.19167	0.0460	L	0.55481	1.735	0.09310	N	1	P	0.50943	0.94	B	0.41666	0.363	T	0.09796	-1.0658	9	0.27785	T	0.31	.	8.7501	0.34611	0.0:0.0:0.0:1.0	.	2071	Q6W4X9	MUC6_HUMAN	P	2071	ENSP00000406861:T2071P	ENSP00000406861:T2071P	T	-	1	0	MUC6	1006590	0.000000	0.05858	0.001000	0.08648	0.026000	0.11368	-0.128000	0.10531	1.402000	0.46780	0.260000	0.18958	ACC	MUC6	-	NULL	ENSG00000184956		0.577	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC6	HGNC	protein_coding	OTTHUMT00000382120.2	1064	0.83	9	T	XM_290540		1016590	1016590	-1	no_errors	ENST00000421673	ensembl	human	known	69_37n	missense	740	15.02	131	SNP	0.001	G
MUTYH	4595	genome.wustl.edu	37	1	45796868	45796868	+	Missense_Mutation	SNP	T	T	G	rs146331482		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:45796868T>G	ENST00000372098.3	-	14	1586	c.1453A>C	c.(1453-1455)Acc>Ccc	p.T485P	MUTYH_ENST00000372100.5_Missense_Mutation_p.T471P|MUTYH_ENST00000372115.3_Missense_Mutation_p.T474P|MUTYH_ENST00000456914.2_Missense_Mutation_p.T460P|MUTYH_ENST00000488731.2_Missense_Mutation_p.T155P|MUTYH_ENST00000372110.3_Missense_Mutation_p.T475P|MUTYH_ENST00000448481.1_Missense_Mutation_p.T471P|MUTYH_ENST00000355498.2_Missense_Mutation_p.T460P|MUTYH_ENST00000372104.1_Missense_Mutation_p.T460P|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000354383.6_Missense_Mutation_p.T461P|MUTYH_ENST00000450313.1_Missense_Mutation_p.T488P|MUTYH_ENST00000529984.1_Missense_Mutation_p.T155P|MUTYH_ENST00000528013.2_Missense_Mutation_p.T474P|MUTYH_ENST00000528332.2_Missense_Mutation_p.T169P			Q9UIF7	MUTYH_HUMAN	mutY homolog	485	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				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)					TTCATGGCGGTGGAAACAGCT	0.478			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													99.0	100.0	100.0					1																	45796868		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.1453A>C	1.37:g.45796868T>G	ENSP00000361170:p.Thr485Pro		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.T488P	ENST00000372098.3	37	c.1462	CCDS520.1	1	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865004	0.51482	.	.	ENSG00000132781	ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100	D;D;D;D;D;D;D;D;D;D;D;D;D	0.94376	-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41;-3.41	5.66	5.66	0.87406	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	0.000000	0.85682	D	0.000000	D	0.96904	0.8989	M	0.86864	2.845	0.80722	D	1	D;P;P;D;P;P;P;P	0.59767	0.986;0.855;0.738;0.966;0.738;0.942;0.901;0.897	D;P;P;D;P;D;P;D	0.68943	0.928;0.834;0.834;0.961;0.834;0.916;0.89;0.916	D	0.97526	1.0076	10	0.72032	D	0.01	-9.7763	15.8923	0.79309	0.0:0.0:0.0:1.0	.	169;488;485;475;485;474;368;461	B4DEX2;E5KP25;E5KP26;Q9UIF7-2;Q9UIF7;E5KP27;D3DPZ6;E5KP28	.;.;.;.;MUTYH_HUMAN;.;.;.	P	155;169;460;471;460;461;460;485;475;474;155;488;471	ENSP00000437093:T155P;ENSP00000433076:T169P;ENSP00000361176:T460P;ENSP00000409718:T471P;ENSP00000407590:T460P;ENSP00000346354:T461P;ENSP00000347685:T460P;ENSP00000361170:T485P;ENSP00000361182:T475P;ENSP00000361187:T474P;ENSP00000432330:T155P;ENSP00000408176:T488P;ENSP00000361172:T471P	ENSP00000346354:T461P	T	-	1	0	MUTYH	45569455	1.000000	0.71417	0.994000	0.49952	0.078000	0.17371	5.497000	0.66924	2.157000	0.67596	0.533000	0.62120	ACC	MUTYH	-	superfamily_NUDIX_hydrolase_dom-like	ENSG00000132781		0.478	MUTYH-002	KNOWN	basic|CCDS	protein_coding	MUTYH	HGNC	protein_coding	OTTHUMT00000020529.1	109	0.91	1	T	NM_012222		45796868	45796868	-1	no_errors	ENST00000450313	ensembl	human	known	69_37n	missense	78	26.42	28	SNP	1.000	G
MYBPC2	4606	genome.wustl.edu	37	19	50947028	50947028	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:50947028T>G	ENST00000357701.5	+	11	1139	c.1088T>G	c.(1087-1089)gTg>gGg	p.V363G		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	363	Ig-like C2-type 3.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GGTGACCGGGTGGAAATGGCA	0.552																																						dbGAP											0													194.0	199.0	197.0					19																	50947028		2069	4206	6275	-	-	-	SO:0001583	missense	0				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.1088T>G	19.37:g.50947028T>G	ENSP00000350332:p.Val363Gly		A1L4G9	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.V363G	ENST00000357701.5	37	c.1088	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	t	19.08	3.758315	0.69763	.	.	ENSG00000086967	ENST00000357701	T	0.80304	-1.36	3.91	3.91	0.45181	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.31612	U	0.007357	D	0.83755	0.5323	M	0.80982	2.52	0.80722	D	1	B	0.32128	0.357	B	0.41036	0.346	D	0.85827	0.1389	10	0.87932	D	0	.	12.4653	0.55755	0.0:0.0:0.0:1.0	.	363	Q14324	MYPC2_HUMAN	G	363	ENSP00000350332:V363G	ENSP00000350332:V363G	V	+	2	0	MYBPC2	55638840	1.000000	0.71417	0.998000	0.56505	0.824000	0.46624	4.605000	0.61119	1.733000	0.51620	0.165000	0.16767	GTG	MYBPC2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000086967		0.552	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	352	0.28	1	T	NM_004533		50947028	50947028	+1	no_errors	ENST00000357701	ensembl	human	known	69_37n	missense	267	10.96	33	SNP	1.000	G
MYADM	91663	genome.wustl.edu	37	19	54377172	54377172	+	Missense_Mutation	SNP	A	A	C	rs575762816		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:54377172A>C	ENST00000391769.2	+	3	669	c.389A>C	c.(388-390)cAc>cCc	p.H130P	AC008440.5_ENST00000413496.2_RNA|MYADM_ENST00000391770.4_Missense_Mutation_p.H130P|MYADM_ENST00000336967.3_Missense_Mutation_p.H130P|MYADM_ENST00000391768.2_Missense_Mutation_p.H130P|MYADM_ENST00000391771.1_Missense_Mutation_p.H130P	NM_001020821.1	NP_001018657.1	Q96S97	MYADM_HUMAN	myeloid-associated differentiation marker	130	MARVEL 1. {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)		TTCCTGTCCCACGGCCGTTCG	0.662																																						dbGAP											0													88.0	86.0	87.0					19																	54377172		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.389A>C	19.37:g.54377172A>C	ENSP00000375649:p.His130Pro		B2RE58|Q542Z1|Q7Z507|Q8N9R4|Q96CS6|Q96SK9	Missense_Mutation	SNP	pfam_MARVEL-like_dom	p.H130P	ENST00000391769.2	37	c.389	CCDS12866.1	19	.	.	.	.	.	.	.	.	.	.	A	4.823	0.153042	0.09185	.	.	ENSG00000179820	ENST00000421337;ENST00000336967;ENST00000391770;ENST00000448420;ENST00000439000;ENST00000391771;ENST00000391769;ENST00000391768;ENST00000414489	T;T;T;T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77;1.77	4.21	4.21	0.49690	Marvel (1);MARVEL-like domain (1);	0.415730	0.22648	N	0.057370	T	0.13114	0.0318	N	0.04959	-0.14	0.09310	N	1	B	0.16166	0.016	B	0.17433	0.018	T	0.18085	-1.0348	10	0.35671	T	0.21	-21.4563	11.5664	0.50807	1.0:0.0:0.0:0.0	.	130	Q96S97	MYADM_HUMAN	P	130	ENSP00000398269:H130P;ENSP00000337222:H130P;ENSP00000375650:H130P;ENSP00000399722:H130P;ENSP00000416919:H130P;ENSP00000375651:H130P;ENSP00000375649:H130P;ENSP00000375648:H130P;ENSP00000404958:H130P	ENSP00000337222:H130P	H	+	2	0	MYADM	59068984	0.000000	0.05858	0.011000	0.14972	0.261000	0.26267	-0.132000	0.10467	1.691000	0.51100	0.260000	0.18958	CAC	MYADM	-	pfam_MARVEL-like_dom	ENSG00000179820		0.662	MYADM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYADM	HGNC	protein_coding	OTTHUMT00000134337.1	102	0.00	0	A	NM_138373		54377172	54377172	+1	no_errors	ENST00000336967	ensembl	human	known	69_37n	missense	87	18.69	20	SNP	0.004	C
MYD88	4615	genome.wustl.edu	37	3	38182262	38182262	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:38182262T>G	ENST00000495303.1	+	2	387	c.382T>G	c.(382-384)Tgg>Ggg	p.W128G	MYD88_ENST00000443433.2_Missense_Mutation_p.W173G|MYD88_ENST00000424893.1_Missense_Mutation_p.V188G|MYD88_ENST00000481122.1_3'UTR|MYD88_ENST00000417037.2_Missense_Mutation_p.V241G|MYD88_ENST00000396334.3_Missense_Mutation_p.V233G	NM_001172566.1	NP_001166037.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	0	Intermediate domain. {ECO:0000250}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell surface receptor signaling pathway (GO:0007166)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|establishment of endothelial intestinal barrier (GO:0090557)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to molecule of fungal origin (GO:0002238)|response to peptidoglycan (GO:0032494)|response to virus (GO:0009615)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|type I interferon biosynthetic process (GO:0045351)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|TIR domain binding (GO:0070976)			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CGCCGGATGGTGGTGGTTGTC	0.557			Mis		ABC-DLBCL																																	dbGAP		Dom	yes		3	3p22	4615	myeloid differentiation primary response gene (88)		L	0													151.0	151.0	151.0					3																	38182262		2203	4300	6503	-	-	-	SO:0001583	missense	0			U84408	CCDS2674.2, CCDS54565.1, CCDS54566.1, CCDS54567.1, CCDS54568.1	3p22	2014-09-17	2012-11-15		ENSG00000172936	ENSG00000172936			7562	protein-coding gene	gene with protein product		602170	"""myeloid differentiation primary response gene (88)"""			9013863	Standard	NM_002468		Approved		uc003chx.3	Q99836	OTTHUMG00000131083	ENST00000495303.1:c.382T>G	3.37:g.38182262T>G	ENSP00000417848:p.Trp128Gly		B4DKH8|B4DKU4|B4DQ60|B4DQ72|J3KPU4|J3KQ87|J3KQJ6|P78397|Q53XS7	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Death,superfamily_DEATH-like,superfamily_TIR_dom,smart_Death,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_Death,pfscan_TIR_dom	p.V241G	ENST00000495303.1	37	c.722	CCDS54568.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.97|16.97	3.269487|3.269487	0.59540|0.59540	.|.	.|.	ENSG00000172936|ENSG00000172936	ENST00000417037;ENST00000396334;ENST00000424893;ENST00000421516;ENST00000415158|ENST00000495303;ENST00000443433	T;T;T;T|.	0.30182|.	1.54;1.54;1.54;1.54|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Toll/interleukin-1 receptor homology (TIR) domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77039|0.77039	0.4072|0.4072	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D|D;B	0.89917|0.76494	1.0;1.0;0.999|0.999;0.115	D;D;D|D;B	0.87578|0.63488	0.995;0.998;0.997|0.915;0.007	T|T	0.77910|0.77910	-0.2411|-0.2411	9|6	0.87932|.	D|.	0|.	-35.0275|-35.0275	15.535|15.535	0.75996|0.75996	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	175;220;209|128;173	Q99836-2;Q99836;B4E3D6|B4DQ60;B4DQ72	.;MYD88_HUMAN;.|.;.	G|G	241;233;188;240;209|128;173	ENSP00000401399:V241G;ENSP00000379625:V233G;ENSP00000389979:V188G;ENSP00000391753:V240G|.	ENSP00000379625:V233G|.	V|W	+|+	2|1	0|0	MYD88|MYD88	38157266|38157266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.585000|7.585000	0.82584|0.82584	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GTG|TGG	MYD88	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pirsf_Myelin_different_resp_MyD88,pfscan_TIR_dom	ENSG00000172936		0.557	MYD88-008	NOVEL	basic|exp_conf|CCDS	protein_coding	MYD88	HGNC	protein_coding	OTTHUMT00000342700.1	216	0.46	1	T	NM_002468		38182262	38182262	+1	no_errors	ENST00000417037	ensembl	human	known	69_37n	missense	197	10.00	22	SNP	1.000	G
MYF5	4617	genome.wustl.edu	37	12	81111311	81111311	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:81111311A>C	ENST00000228644.3	+	1	621	c.469A>C	c.(469-471)Acc>Ccc	p.T157P		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	157					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CTCGGAGCCCACCAGCCCCAC	0.532																																						dbGAP											0													120.0	131.0	127.0					12																	81111311		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.469A>C	12.37:g.81111311A>C	ENSP00000228644:p.Thr157Pro		Q6ISR9	Missense_Mutation	SNP	pfam_Basic,pfam_Myf5,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_Basic,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.T157P	ENST00000228644.3	37	c.469	CCDS9020.1	12	.	.	.	.	.	.	.	.	.	.	A	14.37	2.516350	0.44763	.	.	ENSG00000111049	ENST00000228644	D	0.98455	-4.94	6.17	5.03	0.67393	Helix-loop-helix DNA-binding (1);	0.218690	0.47852	D	0.000220	D	0.97087	0.9048	L	0.56769	1.78	0.30033	N	0.813315	B	0.31274	0.317	B	0.42112	0.376	D	0.94611	0.7804	10	0.31617	T	0.26	-29.3151	8.4281	0.32742	0.7953:0.0:0.2047:0.0	.	157	P13349	MYF5_HUMAN	P	157	ENSP00000228644:T157P	ENSP00000228644:T157P	T	+	1	0	MYF5	79635442	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.316000	0.51960	1.155000	0.42497	0.533000	0.62120	ACC	MYF5	-	pfam_Myf5,superfamily_HLH_DNA-bd	ENSG00000111049		0.532	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF5	HGNC	protein_coding	OTTHUMT00000407757.1	96	0.00	0	A	NM_005593		81111311	81111311	+1	no_errors	ENST00000228644	ensembl	human	known	69_37n	missense	40	21.57	11	SNP	1.000	C
MYH1	4619	genome.wustl.edu	37	17	10419332	10419332	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:10419332A>C	ENST00000226207.5	-	5	510	c.416T>G	c.(415-417)gTg>gGg	p.V139G	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	139	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						GGCTGTCACCACCTCTGCATT	0.517																																						dbGAP											0													129.0	128.0	129.0					17																	10419332		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.416T>G	17.37:g.10419332A>C	ENSP00000226207:p.Val139Gly		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.V139G	ENST00000226207.5	37	c.416	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138498	0.56936	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	T	0.73469	-0.75	5.91	5.91	0.95273	Myosin head, motor domain (2);	0.000000	0.38897	U	0.001530	D	0.88698	0.6507	H	0.98525	4.255	0.80722	D	1	B	0.25390	0.125	B	0.40256	0.324	D	0.89115	0.3499	10	0.87932	D	0	.	16.3513	0.83213	1.0:0.0:0.0:0.0	.	139	P12882	MYH1_HUMAN	G	139	ENSP00000226207:V139G	ENSP00000226207:V139G	V	-	2	0	MYH1	10360057	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.227000	0.65305	2.252000	0.74401	0.533000	0.62120	GTG	MYH1	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000109061		0.517	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	273	0.36	1	A	NM_005963		10419332	10419332	-1	no_errors	ENST00000226207	ensembl	human	known	69_37n	missense	233	10.04	26	SNP	1.000	C
MYH14	79784	genome.wustl.edu	37	19	50758520	50758520	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:50758520A>C	ENST00000596571.1	+	15	1921				MYH14_ENST00000440075.2_Silent_p.P663P|MYH14_ENST00000262269.8_Silent_p.P663P|MYH14_ENST00000425460.1_Intron|MYH14_ENST00000376970.2_Silent_p.P655P|MYH14_ENST00000601313.1_Silent_p.P663P|MYH14_ENST00000598205.1_Intron			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle						actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCTCCTTCCCACCGTCGCCCC	0.612																																						dbGAP											0													67.0	67.0	67.0					19																	50758520		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1922-2036A>C	19.37:g.50758520A>C			B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.P663	ENST00000596571.1	37	c.1989	CCDS59411.1	19																																																																																			MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000105357		0.612	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	131	0.75	1	A	NM_024729		50758520	50758520	+1	no_errors	ENST00000262269	ensembl	human	known	69_37n	silent	141	14.88	25	SNP	0.093	C
MYH14	79784	genome.wustl.edu	37	19	50762426	50762426	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:50762426T>G	ENST00000596571.1	+	16	2135	c.2135T>G	c.(2134-2136)gTg>gGg	p.V712G	MYH14_ENST00000440075.2_Missense_Mutation_p.V753G|MYH14_ENST00000262269.8_Missense_Mutation_p.V753G|MYH14_ENST00000425460.1_Missense_Mutation_p.V720G|MYH14_ENST00000376970.2_Missense_Mutation_p.V745G|MYH14_ENST00000601313.1_Missense_Mutation_p.V753G|MYH14_ENST00000598205.1_Missense_Mutation_p.V720G			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	712	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCACGGCTGGTGCTGGACCAG	0.682																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.2135T>G	19.37:g.50762426T>G	ENSP00000472819:p.Val712Gly		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V753G	ENST00000596571.1	37	c.2258	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130214	0.77549	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	3.45	3.45	0.39498	Myosin head, motor domain (2);	.	.	.	.	D	0.92776	0.7703	H	0.98542	4.26	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.93664	0.6984	9	0.87932	D	0	.	10.2023	0.43092	0.0:0.0:0.0:1.0	.	753;712;720	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	G	712;753;745;720;712;753	ENSP00000406273:V753G;ENSP00000366169:V745G;ENSP00000407879:V720G;ENSP00000262269:V753G	ENSP00000262269:V753G	V	+	2	0	MYH14	55454238	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.689000	0.84165	1.572000	0.49736	0.397000	0.26171	GTG	MYH14	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000105357		0.682	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	38	0.00	0	T	NM_024729		50762426	50762426	+1	no_errors	ENST00000262269	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	G
MYH2	4620	genome.wustl.edu	37	17	10448749	10448749	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:10448749A>C	ENST00000245503.5	-	5	803	c.419T>G	c.(418-420)gTg>gGg	p.V140G	MYH2_ENST00000397183.2_Missense_Mutation_p.V140G|MYH2_ENST00000532183.2_Missense_Mutation_p.V140G|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	140	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTAGGCTGTCACCACCTCGGG	0.522																																						dbGAP											0													111.0	114.0	113.0					17																	10448749		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.419T>G	17.37:g.10448749A>C	ENSP00000245503:p.Val140Gly		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V140G	ENST00000245503.5	37	c.419	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973249	0.53614	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.35466	U	0.003200	D	0.90662	0.7071	H	0.98980	4.39	0.80722	D	1	D;B	0.76494	0.999;0.001	D;B	0.91635	0.999;0.011	D	0.94234	0.7479	10	0.87932	D	0	.	15.1648	0.72814	1.0:0.0:0.0:0.0	.	140;140	Q567P6;Q9UKX2	.;MYH2_HUMAN	G	140	ENSP00000433944:V140G;ENSP00000245503:V140G;ENSP00000380367:V140G;ENSP00000399348:V140G	ENSP00000245503:V140G	V	-	2	0	MYH2	10389474	1.000000	0.71417	0.997000	0.53966	0.953000	0.61014	9.336000	0.96533	2.185000	0.69588	0.528000	0.53228	GTG	MYH2	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000125414		0.522	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	273	0.36	1	A	NM_017534		10448749	10448749	-1	no_errors	ENST00000245503	ensembl	human	known	69_37n	missense	180	15.81	34	SNP	1.000	C
MYH2	4620	genome.wustl.edu	37	17	10448752	10448752	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:10448752A>C	ENST00000245503.5	-	5	800	c.416T>G	c.(415-417)gTg>gGg	p.V139G	MYH2_ENST00000397183.2_Missense_Mutation_p.V139G|MYH2_ENST00000532183.2_Missense_Mutation_p.V139G|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	139	Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCTGTCACCACCTCGGGCTT	0.522																																						dbGAP											0													109.0	112.0	111.0					17																	10448752		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.416T>G	17.37:g.10448752A>C	ENSP00000245503:p.Val139Gly		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V139G	ENST00000245503.5	37	c.416	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506550	0.44558	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183;ENST00000420805	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.35466	U	0.003200	D	0.90920	0.7146	H	0.98738	4.315	0.80722	D	1	D;B	0.54397	0.966;0.003	P;B	0.60286	0.872;0.07	D	0.94338	0.7568	10	0.87932	D	0	.	15.1648	0.72814	1.0:0.0:0.0:0.0	.	139;139	Q567P6;Q9UKX2	.;MYH2_HUMAN	G	139	ENSP00000433944:V139G;ENSP00000245503:V139G;ENSP00000380367:V139G;ENSP00000399348:V139G	ENSP00000245503:V139G	V	-	2	0	MYH2	10389477	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.401000	0.59716	2.185000	0.69588	0.528000	0.53228	GTG	MYH2	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000125414		0.522	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	272	0.36	1	A	NM_017534		10448752	10448752	-1	no_errors	ENST00000245503	ensembl	human	known	69_37n	missense	174	21.43	48	SNP	1.000	C
MYH3	4621	genome.wustl.edu	37	17	10535128	10535128	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:10535128A>C	ENST00000583535.1	-	35	5248		c.e35+1		MYH3_ENST00000226209.7_Splice_Site	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCCTCCCCTCACCTGGGTATG	0.612																																						dbGAP											0													79.0	73.0	75.0					17																	10535128		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5160+1T>G	17.37:g.10535128A>C			Q15492	Splice_Site	SNP	-	e33+2	ENST00000583535.1	37	c.5160+2	CCDS11157.1	17	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379072	0.82682	.	.	ENSG00000109063	ENST00000226209	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8916	0.70614	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH3	10475853	1.000000	0.71417	0.980000	0.43619	0.921000	0.55340	6.138000	0.71717	2.153000	0.67306	0.459000	0.35465	.	MYH3	-	-	ENSG00000109063		0.612	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH3	HGNC	protein_coding	OTTHUMT00000252734.2	122	0.00	0	A	NM_002470	Intron	10535128	10535128	-1	no_errors	ENST00000226209	ensembl	human	known	69_37n	splice_site	107	15.62	20	SNP	1.000	C
MYH7B	57644	genome.wustl.edu	37	20	33583239	33583239	+	Missense_Mutation	SNP	A	A	G	rs202244033		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:33583239A>G	ENST00000262873.7	+	26	3019	c.2927A>G	c.(2926-2928)gAg>gGg	p.E976G		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	934						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGCGGCTGGAGGATGAGGAG	0.617																																						dbGAP											0													52.0	55.0	54.0					20																	33583239		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2927A>G	20.37:g.33583239A>G	ENSP00000262873:p.Glu976Gly		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E976G	ENST00000262873.7	37	c.2927	CCDS42869.1	20	.	.	.	.	.	.	.	.	.	.	A	31	5.104737	0.94245	.	.	ENSG00000078814	ENST00000262873	D	0.86297	-2.1	5.24	5.24	0.73138	.	0.000000	0.36338	N	0.002653	D	0.94827	0.8329	M	0.92317	3.295	0.53688	D	0.999977	D	0.76494	0.999	D	0.80764	0.994	D	0.95957	0.8959	10	0.87932	D	0	.	15.2972	0.73919	1.0:0.0:0.0:0.0	.	934	A7E2Y1	MYH7B_HUMAN	G	976	ENSP00000262873:E976G	ENSP00000262873:E976G	E	+	2	0	MYH7B	33046900	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.135000	0.94478	2.206000	0.71126	0.533000	0.62120	GAG	MYH7B	-	NULL	ENSG00000078814		0.617	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH7B	HGNC	protein_coding	OTTHUMT00000078833.2	158	0.00	0	A	NM_020884		33583239	33583239	+1	no_errors	ENST00000262873	ensembl	human	novel	69_37n	missense	108	23.29	34	SNP	1.000	G
MYH9	4627	genome.wustl.edu	37	22	36692887	36692887	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:36692887A>C	ENST00000216181.5	-	25	3503		c.e25+1			NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle						actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGGGGTCCTCACCTGGCCAGG	0.657			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													dbGAP		Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													24.0	25.0	25.0					22																	36692887		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.3272+1T>G	22.37:g.36692887A>C			A8K6E4|O60805|Q60FE2|Q86T83	Splice_Site	SNP	-	e24+2	ENST00000216181.5	37	c.3272+2	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	A	23.6	4.435068	0.83885	.	.	ENSG00000100345	ENST00000216181	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6266	0.76863	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH9	35022833	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.339000	0.96797	2.163000	0.67991	0.533000	0.62120	.	MYH9	-	-	ENSG00000100345		0.657	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	58	0.00	0	A	NM_002473	Intron	36692887	36692887	-1	no_errors	ENST00000216181	ensembl	human	known	69_37n	splice_site	41	16.33	8	SNP	1.000	C
MYL10	93408	genome.wustl.edu	37	7	101266275	101266275	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:101266275A>C	ENST00000223167.4	-	4	527		c.e4+1			NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory							mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TGGCTCACCCACCCAGCGCGG	0.637																																					Esophageal Squamous(24;575 709 17516 40384 51639)	dbGAP											0													90.0	64.0	73.0					7																	101266275		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC002778	CCDS34713.1	7q22.1	2013-01-10			ENSG00000106436	ENSG00000106436		"""Myosins / Light chain"", ""EF-hand domain containing"""	29825	protein-coding gene	gene with protein product						1628631	Standard	NM_138403		Approved	MGC3479, MYLC2PL, PLRLC	uc003uyr.3	Q9BUA6	OTTHUMG00000157137	ENST00000223167.4:c.349+1T>G	7.37:g.101266275A>C				Splice_Site	SNP	-	e4+2	ENST00000223167.4	37	c.349+2	CCDS34713.1	7	.	.	.	.	.	.	.	.	.	.	A	11.47	1.647901	0.29336	.	.	ENSG00000106436	ENST00000223167	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9069	0.58158	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYL10	101052995	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	8.730000	0.91510	1.792000	0.52537	0.379000	0.24179	.	MYL10	-	-	ENSG00000106436		0.637	MYL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL10	HGNC	protein_coding	OTTHUMT00000347575.1	66	0.00	0	A	NM_138403	Intron	101266275	101266275	-1	no_errors	ENST00000223167	ensembl	human	known	69_37n	splice_site	57	19.18	14	SNP	1.000	C
MYO18B	84700	genome.wustl.edu	37	22	26173713	26173713	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:26173713T>G	ENST00000407587.2	+	8	2202	c.2033T>G	c.(2032-2034)gTg>gGg	p.V678G	MYO18B_ENST00000536101.1_Missense_Mutation_p.V678G|MYO18B_ENST00000335473.7_Missense_Mutation_p.V678G			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	678	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAACACCTGGTGGGGATGGCA	0.622																																						dbGAP											0													91.0	101.0	98.0					22																	26173713		2099	4213	6312	-	-	-	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2033T>G	22.37:g.26173713T>G	ENSP00000386096:p.Val678Gly		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V678G	ENST00000407587.2	37	c.2033		22	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609690	0.66558	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86956	-2.19;-2.19;-2.19	5.52	4.5	0.54988	Myosin head, motor domain (3);	0.421000	0.23534	N	0.047154	D	0.89739	0.6802	M	0.66939	2.045	0.51482	D	0.999924	P;D;D;D	0.56746	0.943;0.975;0.977;0.968	P;P;P;P	0.57720	0.489;0.826;0.73;0.733	D	0.88915	0.3362	10	0.87932	D	0	.	7.8337	0.29358	0.0:0.1576:0.0:0.8424	.	191;678;678;678	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	G	678	ENSP00000441229:V678G;ENSP00000334563:V678G;ENSP00000386096:V678G	ENSP00000334563:V678G	V	+	2	0	MYO18B	24503713	1.000000	0.71417	0.984000	0.44739	0.960000	0.62799	2.452000	0.44961	0.943000	0.37553	0.533000	0.62120	GTG	MYO18B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000133454		0.622	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	127	0.00	0	T	NM_032608		26173713	26173713	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	missense	186	12.09	26	SNP	0.992	G
MYO18B	84700	genome.wustl.edu	37	22	26224840	26224840	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:26224840A>C	ENST00000407587.2	+	15	3053	c.2884A>C	c.(2884-2886)Acc>Ccc	p.T962P	MYO18B_ENST00000536101.1_Missense_Mutation_p.T962P|MYO18B_ENST00000335473.7_Missense_Mutation_p.T962P			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	962	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCGGGCGGCCACCTTTGAGGA	0.592																																						dbGAP											0													79.0	87.0	84.0					22																	26224840		2040	4179	6219	-	-	-	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2884A>C	22.37:g.26224840A>C	ENSP00000386096:p.Thr962Pro		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T962P	ENST00000407587.2	37	c.2884		22	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551810	0.65311	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.88277	-2.36;-2.36;-2.36	4.69	3.66	0.41972	Myosin head, motor domain (2);	0.122511	0.53938	D	0.000041	D	0.93360	0.7883	M	0.80422	2.495	0.36054	D	0.840999	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.983;0.995;0.999;0.992	D	0.94393	0.7616	10	0.87932	D	0	.	8.9172	0.35590	0.9113:0.0:0.0887:0.0	.	475;962;962;962	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	P	962	ENSP00000441229:T962P;ENSP00000334563:T962P;ENSP00000386096:T962P	ENSP00000334563:T962P	T	+	1	0	MYO18B	24554840	0.971000	0.33674	0.996000	0.52242	0.945000	0.59286	3.980000	0.56895	0.843000	0.35070	0.460000	0.39030	ACC	MYO18B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000133454		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	133	0.74	1	A	NM_032608		26224840	26224840	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	missense	133	13.46	21	SNP	1.000	C
MYO18B	84700	genome.wustl.edu	37	22	26299635	26299635	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:26299635T>G	ENST00000407587.2	+	31	5157	c.4988T>G	c.(4987-4989)gTg>gGg	p.V1663G	MYO18B_ENST00000536101.1_Missense_Mutation_p.V1662G|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|MYO18B_ENST00000335473.7_Missense_Mutation_p.V1662G|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|MYO18B_ENST00000536204.1_3'UTR|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1662	Gln-rich.|Tail.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAGCAGCAGGTGGAGATGCTA	0.557																																						dbGAP											0													35.0	39.0	38.0					22																	26299635		1990	4169	6159	-	-	-	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4988T>G	22.37:g.26299635T>G	ENSP00000386096:p.Val1663Gly		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1662G	ENST00000407587.2	37	c.4985		22	.	.	.	.	.	.	.	.	.	.	T	15.84	2.951230	0.53186	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87887	-2.29;-2.29;-2.31	4.64	4.64	0.57946	.	0.272836	0.31188	N	0.008095	D	0.91317	0.7262	M	0.70275	2.135	0.52501	D	0.999954	D;D;D;D	0.76494	0.994;0.997;0.999;0.998	P;P;D;P	0.64877	0.869;0.811;0.93;0.907	D	0.90954	0.4807	10	0.44086	T	0.13	.	12.0767	0.53647	0.0:0.0:0.0:1.0	.	1175;1662;1663;1662	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	G	1662;1662;1663	ENSP00000441229:V1662G;ENSP00000334563:V1662G;ENSP00000386096:V1663G	ENSP00000334563:V1662G	V	+	2	0	MYO18B	24629635	1.000000	0.71417	1.000000	0.80357	0.424000	0.31475	5.685000	0.68204	1.951000	0.56629	0.533000	0.62120	GTG	MYO18B	-	NULL	ENSG00000133454		0.557	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	145	0.00	0	T	NM_032608		26299635	26299635	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	missense	82	18.81	19	SNP	1.000	G
MYO19	80179	genome.wustl.edu	37	17	34883455	34883455	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:34883455T>G	ENST00000431794.3	-	5	749	c.227A>C	c.(226-228)aAc>aCc	p.N76T	MYO19_ENST00000586007.1_Missense_Mutation_p.N76T|MYO19_ENST00000544606.1_Intron|MYO19_ENST00000268852.9_Missense_Mutation_p.N76T	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	76	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTTGAAGGGGTTCAAGGCTAC	0.587																																						dbGAP											0													76.0	83.0	81.0					17																	34883455		2031	4186	6217	-	-	-	SO:0001583	missense	0			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.227A>C	17.37:g.34883455T>G	ENSP00000409936:p.Asn76Thr		Q59GS4|Q9H5X2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.N76T	ENST00000431794.3	37	c.227	CCDS54112.1	17	.	.	.	.	.	.	.	.	.	.	T	24.2	4.500763	0.85176	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.96685	-4.09;-4.09	5.35	5.35	0.76521	Myosin head, motor domain (3);	0.000000	0.46442	D	0.000283	D	0.98868	0.9617	H	0.98089	4.145	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.99457	1.0942	10	0.87932	D	0	.	14.958	0.71131	0.0:0.0:0.0:1.0	.	76;76;76	Q96H55;Q96H55-2;Q96H55-4	MYO19_HUMAN;.;.	T	76	ENSP00000409936:N76T;ENSP00000268852:N76T	ENSP00000268852:N76T	N	-	2	0	MYO19	31957568	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.457000	0.80775	2.371000	0.80710	0.533000	0.62120	AAC	MYO19	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000141140		0.587	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1	163	0.61	1	T	NM_025109		34883455	34883455	-1	no_errors	ENST00000431794	ensembl	human	known	69_37n	missense	78	16.13	15	SNP	1.000	G
MYO1A	4640	genome.wustl.edu	37	12	57422605	57422605	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:57422605A>C	ENST00000442789.2	-	29	3353	c.3066T>G	c.(3064-3066)ggT>ggG	p.G1022G	MYO1A_ENST00000544473.1_Silent_p.G860G|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Silent_p.G1022G	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1022	Myosin tail. {ECO:0000255}.				microvillus assembly (GO:0030033)|sensory perception of sound (GO:0007605)|vesicle localization (GO:0051648)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGTTGTCACCACCTGCAGGGC	0.547																																						dbGAP											0													190.0	154.0	166.0					12																	57422605		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L29137	CCDS8929.1	12q13-q15	2011-09-27			ENSG00000166866	ENSG00000166866		"""Myosins / Myosin superfamily : Class I"""	7595	protein-coding gene	gene with protein product		601478		MYHL, DFNA48		8884266, 12736868	Standard	NM_001256041		Approved		uc009zpd.3	Q9UBC5	OTTHUMG00000149899	ENST00000442789.2:c.3066T>G	12.37:g.57422605A>C			Q9UQD7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G1022	ENST00000442789.2	37	c.3066	CCDS8929.1	12																																																																																			MYO1A	-	pfam_Myosin_tail_2	ENSG00000166866		0.547	MYO1A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1A	HGNC	protein_coding	OTTHUMT00000313833.2	122	0.81	1	A	NM_005379		57422605	57422605	-1	no_errors	ENST00000300119	ensembl	human	known	69_37n	silent	141	19.32	34	SNP	0.000	C
MYO1H	283446	genome.wustl.edu	37	12	109831243	109831243	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:109831243A>C	ENST00000431443.2	+	2	234	c.234A>C	c.(232-234)ccA>ccC	p.P78P	MYO1H_ENST00000310903.5_Silent_p.P78P	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	78	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTGAACTGCCACCACATGTGT	0.473																																						dbGAP											0													78.0	78.0	78.0					12																	109831243		1977	4163	6140	-	-	-	SO:0001819	synonymous_variant	0				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.234A>C	12.37:g.109831243A>C			F5H3C6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.P78	ENST00000431443.2	37	c.234		12																																																																																			MYO1H	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000174527		0.473	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		124	0.00	0	A	NM_173597		109831243	109831243	+1	no_errors	ENST00000431443	ensembl	human	known	69_37n	silent	171	12.69	25	SNP	0.975	C
MYO5B	4645	genome.wustl.edu	37	18	47379868	47379868	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:47379868A>C	ENST00000285039.7	-	31	4471	c.4172T>G	c.(4171-4173)gTg>gGg	p.V1391G	MYO5B_ENST00000324581.6_Missense_Mutation_p.V506G|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1391					endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GCCGAATTCCACCTGGGCCTC	0.567																																						dbGAP											0													87.0	90.0	89.0					18																	47379868		2020	4172	6192	-	-	-	SO:0001583	missense	0			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.4172T>G	18.37:g.47379868A>C	ENSP00000285039:p.Val1391Gly		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.V1391G	ENST00000285039.7	37	c.4172	CCDS42436.1	18	.	.	.	.	.	.	.	.	.	.	A	18.53	3.643300	0.67244	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	T;T	0.08807	3.05;3.05	4.0	4.0	0.46444	.	0.084179	0.47455	D	0.000230	T	0.15609	0.0376	L	0.55481	1.735	0.80722	D	1	B;D	0.57257	0.07;0.979	B;P	0.54312	0.12;0.748	T	0.06373	-1.0830	10	0.22706	T	0.39	.	12.7482	0.57293	1.0:0.0:0.0:0.0	.	1391;506	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	G	1391;506	ENSP00000285039:V1391G;ENSP00000315531:V506G	ENSP00000285039:V1391G	V	-	2	0	MYO5B	45633866	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	8.685000	0.91246	1.674000	0.50907	0.379000	0.24179	GTG	MYO5B	-	superfamily_Prefoldin	ENSG00000167306		0.567	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5B	HGNC	protein_coding	OTTHUMT00000448515.2	161	0.61	1	A			47379868	47379868	-1	no_errors	ENST00000285039	ensembl	human	known	69_37n	missense	107	10.57	13	SNP	1.000	C
MYT1	4661	genome.wustl.edu	37	20	62859271	62859271	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:62859271T>G	ENST00000328439.1	+	18	2986	c.2622T>G	c.(2620-2622)agT>agG	p.S874R	MYT1_ENST00000536311.1_Missense_Mutation_p.S901R|MYT1_ENST00000360149.4_Missense_Mutation_p.S553R	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CAAAGAAAAGTGGAGTCAAGG	0.532																																					GBM(59;481 1041 20555 21139 33705)	dbGAP											0													88.0	84.0	85.0					20																	62859271		2203	4300	6503	-	-	-	SO:0001583	missense	0			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.2622T>G	20.37:g.62859271T>G	ENSP00000327465:p.Ser874Arg		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.S901R	ENST00000328439.1	37	c.2703	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	T	13.99	2.402765	0.42613	.	.	ENSG00000196132	ENST00000360149;ENST00000328439;ENST00000536311	T;T;T	0.47528	0.84;0.9;0.9	5.67	-0.383	0.12477	.	0.045406	0.85682	D	0.000000	T	0.42944	0.1225	N	0.20845	0.615	0.43267	D	0.995214	P;P;P	0.45283	0.855;0.754;0.624	P;B;B	0.56088	0.791;0.397;0.284	T	0.27571	-1.0070	10	0.51188	T	0.08	-6.0782	9.8053	0.40789	0.0:0.34:0.0:0.66	.	901;874;553	F5H7M8;Q01538;Q6P6D5	.;MYT1_HUMAN;.	R	553;874;901	ENSP00000353269:S553R;ENSP00000327465:S874R;ENSP00000442412:S901R	ENSP00000327465:S874R	S	+	3	2	MYT1	62329715	0.998000	0.40836	0.990000	0.47175	0.984000	0.73092	0.389000	0.20751	-0.102000	0.12197	0.533000	0.62120	AGT	MYT1	-	NULL	ENSG00000196132		0.532	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	220	0.45	1	T	NM_004535		62859271	62859271	+1	no_errors	ENST00000536311	ensembl	human	known	69_37n	missense	140	11.32	18	SNP	1.000	G
NAA10	8260	genome.wustl.edu	37	X	153197767	153197767	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:153197767A>C	ENST00000464845.1	-	5	660		c.e5+1		NAA10_ENST00000370015.4_Splice_Site|NAA10_ENST00000393712.3_Splice_Site|NAA10_ENST00000393710.3_Splice_Site|NAA10_ENST00000370009.1_Splice_Site	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit						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						CCCGGCTTCCACCTCTTCCTG	0.572																																					Ovarian(94;1099 1433 38814 45882 51063)	dbGAP											0													54.0	51.0	52.0					X																	153197767		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	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.341+1T>G	X.37:g.153197767A>C			A6NM98	Splice_Site	SNP	-	e5+2	ENST00000464845.1	37	c.341+2	CCDS14737.1	X	.	.	.	.	.	.	.	.	.	.	a	16.17	3.047752	0.55110	.	.	ENSG00000102030	ENST00000464845;ENST00000370015;ENST00000393712;ENST00000370009;ENST00000370011;ENST00000432089	.	.	.	4.27	4.27	0.50696	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.7447	0.34578	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NAA10	152850961	1.000000	0.71417	0.998000	0.56505	0.837000	0.47467	8.781000	0.91805	1.579000	0.49836	0.427000	0.28365	.	NAA10	-	-	ENSG00000102030		0.572	NAA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA10	HGNC	protein_coding	OTTHUMT00000061108.2	130	0.00	0	A	NM_003491	Intron	153197767	153197767	-1	no_errors	ENST00000464845	ensembl	human	known	69_37n	splice_site	155	11.36	20	SNP	1.000	C
NACA	4666	genome.wustl.edu	37	12	57113341	57113341	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:57113341A>C	ENST00000454682.1	-	3	2254	c.1973T>G	c.(1972-1974)gTg>gGg	p.V658G	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.V615G|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	658	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGTGGGAGCCACCCCGGCAGG	0.498			T	BCL6	NHL																																	dbGAP		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													44.0	42.0	43.0					12																	57113341		1568	3582	5150	-	-	-	SO:0001583	missense	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.1973T>G	12.37:g.57113341A>C	ENSP00000403817:p.Val658Gly			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx	p.V658G	ENST00000454682.1	37	c.1973		12	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729308	0.48833	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952	T;T;T	0.55234	0.9;0.53;0.94	3.1	0.111	0.14619	.	.	.	.	.	T	0.26774	0.0655	N	0.08118	0	0.09310	N	1	B;B	0.29253	0.239;0.087	B;B	0.25140	0.045;0.058	T	0.16335	-1.0406	9	0.52906	T	0.07	.	4.4962	0.11839	0.544:0.0:0.456:0.0	.	658;615	E9PAV3;F8VU71	.;.	G	15;658;615	ENSP00000448039:V15G;ENSP00000403817:V658G;ENSP00000448035:V615G	ENSP00000403817:V658G	V	-	2	0	NACA	55399608	0.000000	0.05858	0.025000	0.17156	0.926000	0.56050	0.186000	0.16978	0.236000	0.21180	0.369000	0.22263	GTG	NACA	-	NULL	ENSG00000196531		0.498	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		70	0.00	0	A	NM_005594		57113341	57113341	-1	no_errors	ENST00000454682	ensembl	human	known	69_37n	missense	36	21.28	10	SNP	0.002	C
NACA	4666	genome.wustl.edu	37	12	57114602	57114602	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:57114602T>G	ENST00000454682.1	-	3	993	c.712A>C	c.(712-714)Acc>Ccc	p.T238P	NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.T238P|NACA_ENST00000356769.3_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	238	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						ATGGCTAGGGTAGTTGTGGGT	0.512			T	BCL6	NHL																																	dbGAP		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	0													247.0	225.0	232.0					12																	57114602		1568	3582	5150	-	-	-	SO:0001583	missense	0			X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.712A>C	12.37:g.57114602T>G	ENSP00000403817:p.Thr238Pro			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx	p.T238P	ENST00000454682.1	37	c.712		12	.	.	.	.	.	.	.	.	.	.	T	7.295	0.611842	0.14066	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.27402	1.67;1.67	3.35	0.109	0.14578	.	.	.	.	.	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22836	-1.0205	9	0.87932	D	0	.	3.2819	0.06918	0.2454:0.0:0.5373:0.2174	.	238;238	E9PAV3;F8VU71	.;.	P	238	ENSP00000403817:T238P;ENSP00000448035:T238P	ENSP00000403817:T238P	T	-	1	0	NACA	55400869	0.589000	0.26807	0.021000	0.16686	0.031000	0.12232	0.782000	0.26788	-0.109000	0.12044	0.241000	0.17934	ACC	NACA	-	NULL	ENSG00000196531		0.512	NACA-201	KNOWN	basic	protein_coding	NACA	HGNC	protein_coding		197	0.99	2	T	NM_005594		57114602	57114602	-1	no_errors	ENST00000454682	ensembl	human	known	69_37n	missense	120	17.69	26	SNP	0.161	G
NACAD	23148	genome.wustl.edu	37	7	45120360	45120360	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:45120360A>C	ENST00000490531.2	-	7	4572	c.4553T>G	c.(4552-4554)gTg>gGg	p.V1518G		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1518					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						CGCCTCGTCCACCTGGAGTTG	0.667																																						dbGAP											0													36.0	44.0	42.0					7																	45120360		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.4552-1T>G	7.37:g.45120360A>C				Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.V1518G	ENST00000490531.2	37	c.4553	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469725	0.63625	.	.	ENSG00000136274	ENST00000490531	T	0.20881	2.04	4.14	4.14	0.48551	.	0.146654	0.45126	D	0.000391	T	0.55289	0.1911	H	0.94658	3.565	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.67094	-0.5757	10	0.59425	D	0.04	-12.6137	12.1144	0.53858	1.0:0.0:0.0:0.0	.	1518	O15069	NACAD_HUMAN	G	1518	ENSP00000420477:V1518G	ENSP00000420477:V1518G	V	-	2	0	NACAD	45086885	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	7.282000	0.78630	1.745000	0.51790	0.240000	0.17902	GTG	NACAD	-	NULL	ENSG00000136274		0.667	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	99	0.99	1	A	NM_001146334	Missense_Mutation	45120360	45120360	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	missense	40	19.61	10	SNP	1.000	C
NACAD	23148	genome.wustl.edu	37	7	45121198	45121198	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:45121198A>C	ENST00000490531.2	-	4	4277		c.e4+1			NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing						protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						CCACCAGCCCACCTTTCGGGC	0.597																																						dbGAP											0													67.0	65.0	65.0					7																	45121198		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.4257+1T>G	7.37:g.45121198A>C				Splice_Site	SNP	-	e4+2	ENST00000490531.2	37	c.4257+2	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	A	17.53	3.413439	0.62511	.	.	ENSG00000136274	ENST00000490531	.	.	.	2.92	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7851	0.46401	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NACAD	45087723	0.999000	0.42202	0.868000	0.34077	0.961000	0.63080	4.213000	0.58520	1.580000	0.49851	0.363000	0.22086	.	NACAD	-	-	ENSG00000136274		0.597	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	99	0.00	0	A	NM_001146334	Intron	45121198	45121198	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	splice_site	92	17.12	19	SNP	0.995	C
NADSYN1	55191	genome.wustl.edu	37	11	71191835	71191835	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:71191835T>G	ENST00000319023.2	+	11	1096	c.908T>G	c.(907-909)gTg>gGg	p.V303G	NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_5'UTR|NADSYN1_ENST00000539574.1_Missense_Mutation_p.V43G	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	303					NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	AGAGTGAAGGTGGACTTTGCC	0.597																																					Ovarian(79;763 1781 6490 50276)	dbGAP											0													86.0	73.0	77.0					11																	71191835		2200	4294	6494	-	-	-	SO:0001583	missense	0			AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.908T>G	11.37:g.71191835T>G	ENSP00000326424:p.Val303Gly		B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Missense_Mutation	SNP	pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase	p.V303G	ENST00000319023.2	37	c.908	CCDS8201.1	11	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657667	0.67586	.	.	ENSG00000172890	ENST00000319023;ENST00000539574	T;T	0.26957	2.3;1.7	5.18	5.18	0.71444	.	0.151763	0.44483	D	0.000446	T	0.50377	0.1612	M	0.90542	3.125	0.80722	D	1	D;P	0.55605	0.972;0.923	P;P	0.55871	0.575;0.786	T	0.57642	-0.7776	10	0.37606	T	0.19	-33.5125	12.9823	0.58570	0.0:0.0:0.0:1.0	.	43;303	B3KUU4;Q6IA69	.;NADE_HUMAN	G	303;43	ENSP00000326424:V303G;ENSP00000443718:V43G	ENSP00000326424:V303G	V	+	2	0	NADSYN1	70869483	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	4.390000	0.59646	1.954000	0.56735	0.459000	0.35465	GTG	NADSYN1	-	pirsf_Gln-dep_NAD_synthase	ENSG00000172890		0.597	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NADSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	67	0.00	0	T	NM_018161		71191835	71191835	+1	no_errors	ENST00000319023	ensembl	human	known	69_37n	missense	35	18.18	8	SNP	1.000	G
NAGLU	4669	genome.wustl.edu	37	17	40689382	40689382	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:40689382T>G	ENST00000225927.2	+	2	484				RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha						carbohydrate metabolic process (GO:0005975)|cerebellar Purkinje cell layer development (GO:0021680)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inner ear receptor cell development (GO:0060119)|locomotor rhythm (GO:0045475)|lysosome organization (GO:0007040)|middle ear morphogenesis (GO:0042474)|nervous system development (GO:0007399)|retinal rod cell development (GO:0046548)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-N-acetylglucosaminidase activity (GO:0004561)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCCTCCAGGGTGGGATGCGCC	0.632																																						dbGAP											0													81.0	78.0	79.0					17																	40689382		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS11427.1	17q21.2	2010-07-27	2010-07-27		ENSG00000108784	ENSG00000108784	3.2.1.50		7632	protein-coding gene	gene with protein product	"""Sanfilippo disease IIIB"""	609701					Standard	XM_006721920		Approved	NAG	uc002hzv.3	P54802		ENST00000225927.2:c.384-34T>G	17.37:g.40689382T>G				Missense_Mutation	SNP	pfam_NAGLU_tim-barrel	p.V13G	ENST00000225927.2	37	c.38	CCDS11427.1	17																																																																																			NAGLU	-	NULL	ENSG00000108784		0.632	NAGLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAGLU	HGNC	protein_coding	OTTHUMT00000450385.1	84	0.00	0	T	NM_000263		40689382	40689382	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000590358	ensembl	human	putative	69_37n	missense	49	25.76	17	SNP	0.002	G
NANOS3	342977	genome.wustl.edu	37	19	13991312	13991312	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:13991312A>C	ENST00000397555.2	+	3	517	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	NANOS3_ENST00000591727.1_3'UTR|NANOS3_ENST00000339133.5_Missense_Mutation_p.T192P	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	173					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CTCCATGTCCACCTAGGAGGC	0.622											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													80.0	84.0	83.0					19																	13991312		2017	4170	6187	-	-	-	SO:0001583	missense	0			BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.517A>C	19.37:g.13991312A>C	ENSP00000380687:p.Thr173Pro	691	Q495E5	Missense_Mutation	SNP	pfam_Znf_nanos-typ	p.T192P	ENST00000397555.2	37	c.574		19	.	.	.	.	.	.	.	.	.	.	A	9.038	0.988860	0.18966	.	.	ENSG00000187556	ENST00000339133;ENST00000397555	T;T	0.46063	0.88;0.9	3.55	-1.88	0.07713	.	.	.	.	.	T	0.33556	0.0867	.	.	.	0.09310	N	0.999999	P	0.40476	0.718	B	0.41174	0.349	T	0.29305	-1.0016	8	0.87932	D	0	-3.2357	7.235	0.26064	0.6756:0.0:0.3244:0.0	.	192	P60323-2	.	P	192;173	ENSP00000341992:T192P;ENSP00000380687:T173P	ENSP00000341992:T192P	T	+	1	0	NANOS3	13852312	0.144000	0.22641	0.052000	0.19188	0.111000	0.19643	0.099000	0.15210	-0.278000	0.09180	0.459000	0.35465	ACC	NANOS3	-	NULL	ENSG00000187556		0.622	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	NANOS3	HGNC	protein_coding		97	0.00	0	A	XM_292819		13991312	13991312	+1	no_errors	ENST00000339133	ensembl	human	known	69_37n	missense	100	15.13	18	SNP	0.056	C
NARF	26502	genome.wustl.edu	37	17	80430544	80430544	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:80430544A>C	ENST00000309794.11	+	5	688	c.490A>C	c.(490-492)Acc>Ccc	p.T164P	NARF_ENST00000345415.7_Missense_Mutation_p.T116P|NARF_ENST00000457415.3_Missense_Mutation_p.T164P|NARF_ENST00000390006.4_Missense_Mutation_p.T105P|NARF_ENST00000581743.1_3'UTR|NARF_ENST00000412079.2_Intron	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	164						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGAGGAACGCACCCTGCCCAT	0.542																																						dbGAP											0													114.0	94.0	100.0					17																	80430544		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.490A>C	17.37:g.80430544A>C	ENSP00000309899:p.Thr164Pro		A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	pfam_Fe_hydrogenase_lsu_C,pfam_Fe_hydrogenase_ssu-like,superfamily_Fe_hydrogenase,smart_Fe_hydrogenase_ssu-like	p.T164P	ENST00000309794.11	37	c.490	CCDS32777.1	17	.	.	.	.	.	.	.	.	.	.	A	5.228	0.227551	0.09916	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.64	-4.04	0.04010	Iron hydrogenase, large subunit, C-terminal (1);Iron hydrogenase (1);	0.471231	0.24618	N	0.036990	T	0.15392	0.0371	N	0.02674	-0.535	0.09310	N	0.999993	B;B;B;B	0.32071	0.078;0.005;0.355;0.096	B;B;B;B	0.41412	0.173;0.071;0.356;0.18	T	0.36720	-0.9736	10	0.15499	T	0.54	-17.2903	4.3642	0.11216	0.2846:0.0898:0.5255:0.1001	.	164;116;164;164	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	P	105;164;164;116	ENSP00000374656:T105P;ENSP00000363739:T164P;ENSP00000309899:T164P;ENSP00000283996:T116P	ENSP00000309899:T164P	T	+	1	0	NARF	78023833	0.838000	0.29461	0.000000	0.03702	0.004000	0.04260	2.392000	0.44433	-0.416000	0.07473	-0.909000	0.02823	ACC	NARF	-	pfam_Fe_hydrogenase_lsu_C,superfamily_Fe_hydrogenase	ENSG00000141562		0.542	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARF	HGNC	protein_coding	OTTHUMT00000443573.2	115	0.85	1	A	NM_031968		80430544	80430544	+1	no_errors	ENST00000309794	ensembl	human	known	69_37n	missense	86	17.92	19	SNP	0.000	C
NARFL	64428	genome.wustl.edu	37	16	784099	784099	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:784099T>G	ENST00000251588.2	-	6	710				NARFL_ENST00000562862.1_5'UTR|NARFL_ENST00000301694.5_Intron|HAGHL_ENST00000569604.1_3'UTR|NARFL_ENST00000568545.1_Intron|NARFL_ENST00000540986.1_Intron	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like						hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GGAACAAGGGTGGAGGTGTGC	0.622																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.693+129A>C	16.37:g.784099T>G			A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	RNA	SNP	-	NULL	ENST00000251588.2	37	NULL	CCDS10425.1	16																																																																																			NARFL	-	-	ENSG00000103245		0.622	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARFL	HGNC	protein_coding	OTTHUMT00000242855.1	29	0.00	0	T	NM_022493		784099	784099	-1	no_errors	ENST00000562862	ensembl	human	known	69_37n	rna	18	26.92	7	SNP	0.000	G
NAV2	89797	genome.wustl.edu	37	11	19890545	19890545	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:19890545T>G	ENST00000396087.3	+	4	610		c.e4+2		NAV2_ENST00000349880.4_Splice_Site|NAV2_ENST00000360655.4_Splice_Site|NAV2_ENST00000534229.1_Splice_Site|NAV2_ENST00000540292.1_Splice_Site|NAV2_ENST00000396085.1_Splice_Site|NAV2_ENST00000527559.2_Splice_Site	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2						glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTGCAGAAGGTGAGTCAGAGC	0.423																																						dbGAP											0													68.0	64.0	65.0					11																	19890545		2199	4293	6492	-	-	-	SO:0001630	splice_region_variant	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.511+2T>G	11.37:g.19890545T>G			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Splice_Site	SNP	-	e4+2	ENST00000396087.3	37	c.511+2	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	T	22.4	4.285551	0.80803	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7906	0.63138	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAV2	19847121	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.641000	0.74324	2.242000	0.73789	0.533000	0.62120	.	NAV2	-	-	ENSG00000166833		0.423	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	130	0.00	0	T	NM_145117	Intron	19890545	19890545	+1	no_errors	ENST00000396087	ensembl	human	known	69_37n	splice_site	93	14.68	16	SNP	1.000	G
NBEAL2	23218	genome.wustl.edu	37	3	47036011	47036011	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:47036011A>C	ENST00000450053.3	+	12	1443	c.1264A>C	c.(1264-1266)Acc>Ccc	p.T422P	NBEAL2_ENST00000292309.5_Missense_Mutation_p.T422P|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	422					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGGTCCCCCCACCCATCGGCT	0.567																																						dbGAP											0													26.0	32.0	30.0					3																	47036011		1992	4159	6151	-	-	-	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.1264A>C	3.37:g.47036011A>C	ENSP00000415034:p.Thr422Pro		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T422P	ENST00000450053.3	37	c.1264	CCDS46817.1	3	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228597	0.58777	.	.	ENSG00000160796	ENST00000292309;ENST00000450053;ENST00000296147	T;T	0.27256	1.68;1.68	5.08	5.08	0.68730	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.39759	0.1090	L	0.41710	1.295	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.71656	0.974;0.829	T	0.07083	-1.0791	9	0.31617	T	0.26	.	14.1645	0.65469	1.0:0.0:0.0:0.0	.	388;422	Q6ZNJ1-4;Q6ZNJ1	.;NBEL2_HUMAN	P	422;422;388	ENSP00000292309:T422P;ENSP00000415034:T422P	ENSP00000292309:T422P	T	+	1	0	NBEAL2	47011015	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	2.714000	0.47202	2.128000	0.65567	0.402000	0.26972	ACC	NBEAL2	-	superfamily_ARM-type_fold	ENSG00000160796		0.567	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	84	0.00	0	A	XM_291064		47036011	47036011	+1	no_errors	ENST00000450053	ensembl	human	known	69_37n	missense	59	22.08	17	SNP	1.000	C
NBEAL2	23218	genome.wustl.edu	37	3	47043228	47043228	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:47043228A>C	ENST00000450053.3	+	30	4873	c.4694A>C	c.(4693-4695)cAc>cCc	p.H1565P	NBEAL2_ENST00000292309.5_Missense_Mutation_p.H1381P|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1565					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCCTGGCCCCACCTGGCCAAC	0.587																																						dbGAP											0													90.0	95.0	94.0					3																	47043228		2138	4246	6384	-	-	-	SO:0001583	missense	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4694A>C	3.37:g.47043228A>C	ENSP00000415034:p.His1565Pro		O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H1565P	ENST00000450053.3	37	c.4694	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.77|16.77	3.214238|3.214238	0.58452|0.58452	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000450053|ENST00000416683	T;T|.	0.56444|.	0.47;0.46|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.112212|.	0.64402|.	D|.	0.000010|.	T|T	0.53722|0.53722	0.1814|0.1814	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	B|.	0.19706|.	0.038|.	B|.	0.20955|.	0.032|.	T|T	0.50906|0.50906	-0.8772|-0.8772	10|5	0.30854|.	T|.	0.27|.	.|.	13.8972|13.8972	0.63781|0.63781	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1565|.	Q6ZNJ1|.	NBEL2_HUMAN|.	P|P	1381;1565|853	ENSP00000292309:H1381P;ENSP00000415034:H1565P|.	ENSP00000292309:H1381P|.	H|T	+|+	2|1	0|0	NBEAL2|NBEAL2	47018232|47018232	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.964000|0.964000	0.63967|0.63967	5.748000|5.748000	0.68697|0.68697	1.970000|1.970000	0.57323|0.57323	0.460000|0.460000	0.39030|0.39030	CAC|ACC	NBEAL2	-	NULL	ENSG00000160796		0.587	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	77	0.00	0	A	XM_291064		47043228	47043228	+1	no_errors	ENST00000450053	ensembl	human	known	69_37n	missense	113	17.86	25	SNP	1.000	C
NCDN	23154	genome.wustl.edu	37	1	36027994	36027994	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:36027994T>G	ENST00000373243.2	+	4	1528	c.1145T>G	c.(1144-1146)gTg>gGg	p.V382G	NCDN_ENST00000373253.3_Splice_Site_p.V365G|NCDN_ENST00000356090.4_Splice_Site_p.V382G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	382					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGCAACAGGTGGGGTCAGAG	0.582																																						dbGAP											0													147.0	144.0	145.0					1																	36027994		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1144-1T>G	1.37:g.36027994T>G			D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	NULL	p.V382G	ENST00000373243.2	37	c.1145	CCDS392.1	1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330568	0.81690	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243	T;T;T	0.70282	-0.47;-0.47;-0.47	5.07	5.07	0.68467	.	0.072056	0.56097	D	0.000032	T	0.78978	0.4369	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.80984	-0.1138	10	0.87932	D	0	.	12.7032	0.57045	0.0:0.0:0.0:1.0	.	382	Q9UBB6	NCDN_HUMAN	G	365;382;382	ENSP00000362350:V365G;ENSP00000348394:V382G;ENSP00000362340:V382G	ENSP00000348394:V382G	V	+	2	0	NCDN	35800581	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.277000	0.72608	2.143000	0.66587	0.459000	0.35465	GTG	NCDN	-	NULL	ENSG00000020129		0.582	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NCDN	HGNC	protein_coding	OTTHUMT00000131298.1	257	0.38	1	T	NM_014284	Missense_Mutation	36027994	36027994	+1	no_errors	ENST00000356090	ensembl	human	known	69_37n	missense	259	16.03	50	SNP	1.000	G
NBPF4	148545	genome.wustl.edu	37	1	108771596	108771596	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:108771596T>G	ENST00000415641.3	-	13	1809	c.1606A>C	c.(1606-1608)Acc>Ccc	p.T536P		NM_001143989.2	NP_001137461.1	Q96M43	NBPF4_HUMAN	neuroblastoma breakpoint family, member 4	536						cytoplasm (GO:0005737)				endometrium(2)|lung(1)|skin(1)	4						CTGCAGGTGGTGGAGGAAAGG	0.577																																						dbGAP											0													19.0	21.0	20.0					1																	108771596		691	1578	2269	-	-	-	SO:0001583	missense	0			AK057395	CCDS44182.1	1p13.3	2013-01-17			ENSG00000196427	ENSG00000196427		"""neuroblastoma breakpoint family"""	26550	protein-coding gene	gene with protein product		613994				16079250	Standard	NM_001143989		Approved	FLJ32833	uc009weo.2	Q96M43	OTTHUMG00000011318	ENST00000415641.3:c.1606A>C	1.37:g.108771596T>G	ENSP00000389237:p.Thr536Pro		Q5T483	Missense_Mutation	SNP	pfam_NBPF_dom	p.T536P	ENST00000415641.3	37	c.1606	CCDS44182.1	1	.	.	.	.	.	.	.	.	.	.	T	5.616	0.298331	0.10622	.	.	ENSG00000196427	ENST00000415641;ENST00000428601;ENST00000370038	T	0.02709	4.19	1.23	-1.31	0.09230	.	.	.	.	.	T	0.01835	0.0058	L	0.48642	1.525	0.09310	N	1	D	0.63046	0.992	P	0.57911	0.829	T	0.41431	-0.9509	9	0.26408	T	0.33	.	4.3002	0.10922	0.0:0.4493:0.0:0.5507	.	536	Q5T483	.	P	536;565;536	ENSP00000389237:T536P	ENSP00000359055:T536P	T	-	1	0	NBPF4	108573119	0.002000	0.14202	0.003000	0.11579	0.005000	0.04900	-0.697000	0.05098	-0.454000	0.07066	-0.561000	0.04177	ACC	NBPF4	-	NULL	ENSG00000196427		0.577	NBPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBPF4	HGNC	protein_coding	OTTHUMT00000031255.5	109	0.90	1	T	NM_152488		108771596	108771596	-1	no_errors	ENST00000370038	ensembl	human	known	69_37n	missense	42	25.86	15	SNP	0.003	G
NCKAP1L	3071	genome.wustl.edu	37	12	54905822	54905822	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:54905822A>C	ENST00000293373.6	+	9	953	c.874A>C	c.(874-876)Acc>Ccc	p.T292P	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.T242P|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	292					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCTCTACATCACCCTTATCCG	0.522																																						dbGAP											0													143.0	125.0	131.0					12																	54905822		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.874A>C	12.37:g.54905822A>C	ENSP00000293373:p.Thr292Pro		B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.T292P	ENST00000293373.6	37	c.874	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	A	20.6	4.019816	0.75275	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.34667	1.35;1.35	5.61	5.61	0.85477	.	0.108403	0.64402	D	0.000011	T	0.46541	0.1398	L	0.39245	1.2	0.40965	D	0.984655	D	0.65815	0.995	P	0.61658	0.892	T	0.34354	-0.9832	10	0.30854	T	0.27	-19.2572	13.8042	0.63220	1.0:0.0:0.0:0.0	.	292	P55160	NCKPL_HUMAN	P	292;242	ENSP00000293373:T292P;ENSP00000445596:T242P	ENSP00000293373:T292P	T	+	1	0	NCKAP1L	53192089	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	2.764000	0.47613	2.153000	0.67306	0.456000	0.33151	ACC	NCKAP1L	-	pfam_Nck-associated_protein-1	ENSG00000123338		0.522	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	202	0.00	0	A	NM_005337		54905822	54905822	+1	no_errors	ENST00000293373	ensembl	human	known	69_37n	missense	214	15.08	38	SNP	1.000	C
NCOA1	8648	genome.wustl.edu	37	2	24952561	24952561	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:24952561A>C	ENST00000406961.1	+	17	3730	c.3078A>C	c.(3076-3078)acA>acC	p.T1026T	NCOA1_ENST00000407230.1_Silent_p.T875T|NCOA1_ENST00000395856.3_Silent_p.T1026T|NCOA1_ENST00000538539.1_Silent_p.T1026T|NCOA1_ENST00000288599.5_Silent_p.T1026T|NCOA1_ENST00000405141.1_Silent_p.T1026T|NCOA1_ENST00000348332.3_Silent_p.T1026T			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1026					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCAAGTAACACCTCCCCGAG	0.537			T	PAX3	alveolar rhadomyosarcoma																																	dbGAP		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													132.0	126.0	128.0					2																	24952561		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3078A>C	2.37:g.24952561A>C			O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.T1026	ENST00000406961.1	37	c.3078	CCDS1712.1	2																																																																																			NCOA1	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000084676		0.537	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	161	0.61	1	A	NM_147223		24952561	24952561	+1	no_errors	ENST00000348332	ensembl	human	known	69_37n	silent	147	16.48	29	SNP	1.000	C
NCOA1	8648	genome.wustl.edu	37	2	24952582	24952582	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:24952582A>C	ENST00000406961.1	+	17	3751	c.3099A>C	c.(3097-3099)tcA>tcC	p.S1033S	NCOA1_ENST00000407230.1_Silent_p.S882S|NCOA1_ENST00000395856.3_Silent_p.S1033S|NCOA1_ENST00000538539.1_Silent_p.S1033S|NCOA1_ENST00000288599.5_Silent_p.S1033S|NCOA1_ENST00000405141.1_Silent_p.S1033S|NCOA1_ENST00000348332.3_Silent_p.S1033S			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1033					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCTTTTTCACCTGGCATGG	0.542			T	PAX3	alveolar rhadomyosarcoma																																	dbGAP		Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													115.0	115.0	115.0					2																	24952582		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3099A>C	2.37:g.24952582A>C			O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.S1033	ENST00000406961.1	37	c.3099	CCDS1712.1	2																																																																																			NCOA1	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000084676		0.542	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	141	0.00	0	A	NM_147223		24952582	24952582	+1	no_errors	ENST00000348332	ensembl	human	known	69_37n	silent	110	13.95	18	SNP	0.582	C
NCL	4691	genome.wustl.edu	37	2	232321358	232321358	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:232321358T>G	ENST00000322723.4	-	11	1929	c.1689A>C	c.(1687-1689)tcA>tcC	p.S563S	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	563					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.S563S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGCATTAGGTGATCCCCTGG	0.458																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											111.0	112.0	112.0					2																	232321358		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1689A>C	2.37:g.232321358T>G			Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.S563	ENST00000322723.4	37	c.1689	CCDS33397.1	2																																																																																			NCL	-	NULL	ENSG00000115053		0.458	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCL	HGNC	protein_coding	OTTHUMT00000332731.1	240	0.41	1	T	NM_005381		232321358	232321358	-1	no_errors	ENST00000322723	ensembl	human	known	69_37n	silent	125	19.11	30	SNP	0.000	G
NCOA2	10499	genome.wustl.edu	37	8	71069091	71069091	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:71069091T>G	ENST00000452400.2	-	11	1690	c.1509A>C	c.(1507-1509)ccA>ccC	p.P503P	NCOA2_ENST00000524223.1_Intron	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	503					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ACTGACTGGGTGGGATTCGAG	0.562			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	dbGAP		Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													80.0	79.0	79.0					8																	71069091		1954	4145	6099	-	-	-	SO:0001819	synonymous_variant	0			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.1509A>C	8.37:g.71069091T>G			Q14CD2	Silent	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd	p.P503	ENST00000452400.2	37	c.1509	CCDS47872.1	8																																																																																			NCOA2	-	pirsf_Nuclear_rcpt_coactivator	ENSG00000140396		0.562	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	125	0.79	1	T			71069091	71069091	-1	no_errors	ENST00000452400	ensembl	human	known	69_37n	silent	167	15.84	32	SNP	0.902	G
NCOR1	9611	genome.wustl.edu	37	17	16029456	16029457	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:16029456_16029457insT	ENST00000268712.3	-	15	1830_1831	c.1573_1574insA	c.(1573-1575)acafs	p.T525fs	NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.T525fs|NCOR1_ENST00000395848.1_Frame_Shift_Ins_p.T416fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	525					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ttttttttctgttttttctgct	0.297																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1574dupA	17.37:g.16029462_16029462dupT	ENSP00000268712:p.Thr525fs		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Ins	INS	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.T525fs	ENST00000268712.3	37	c.1574_1573	CCDS11175.1	17																																																																																			NCOR1	-	NULL	ENSG00000141027		0.297	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	79	0.00	0	-	NM_006311		16029456	16029457	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	frame_shift_ins	122	28.24	48	INS	1.000:1.000	T
NCOR2	9612	genome.wustl.edu	37	12	124882663	124882663	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:124882663A>C	ENST00000405201.1	-	16	1877		c.e16+1		NCOR2_ENST00000356219.3_Splice_Site|NCOR2_ENST00000404121.2_Splice_Site|NCOR2_ENST00000429285.2_Splice_Site|NCOR2_ENST00000404621.1_Splice_Site|NCOR2_ENST00000397355.1_Splice_Site			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2						cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CACACCCCTCACCTTTCTTGG	0.547																																						dbGAP											0													193.0	224.0	214.0					12																	124882663		2010	4175	6185	-	-	-	SO:0001630	splice_region_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1876+1T>G	12.37:g.124882663A>C			O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Splice_Site	SNP	-	e16+2	ENST00000405201.1	37	c.1876+2	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	A	19.90	3.912043	0.72983	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	.	.	.	4.91	4.91	0.64330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2182	0.65807	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCOR2	123448616	1.000000	0.71417	0.995000	0.50966	0.791000	0.44710	6.207000	0.72159	1.850000	0.53721	0.482000	0.46254	.	NCOR2	-	-	ENSG00000196498		0.547	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	437	0.89	4	A	NM_006312	Intron	124882663	124882663	-1	no_errors	ENST00000356219	ensembl	human	known	69_37n	splice_site	267	10.89	33	SNP	0.999	C
NCR1	9437	genome.wustl.edu	37	19	55421416	55421416	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:55421416A>C	ENST00000291890.4	+	5	711	c.673A>C	c.(673-675)Acc>Ccc	p.T225P	NCR1_ENST00000594765.1_Missense_Mutation_p.T225P|NCR1_ENST00000350790.5_Missense_Mutation_p.T130P|NCR1_ENST00000598576.1_Missense_Mutation_p.T213P|NCR1_ENST00000357397.5_Missense_Mutation_p.T118P|NCR1_ENST00000447255.1_Missense_Mutation_p.T225P|NCR1_ENST00000338835.5_Missense_Mutation_p.T225P	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	225					cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TGAAGACCCCACCTTTCCTGG	0.463																																						dbGAP											0													188.0	190.0	189.0					19																	55421416		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.673A>C	19.37:g.55421416A>C	ENSP00000291890:p.Thr225Pro		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	smart_Ig_sub	p.T225P	ENST00000291890.4	37	c.673	CCDS12911.1	19	.	.	.	.	.	.	.	.	.	.	A	9.159	1.018187	0.19355	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835;ENST00000350790;ENST00000357397	T;T;T;T;T	0.00558	6.91;6.95;7.03;6.87;6.61	3.19	0.932	0.19466	.	2.364040	0.01849	N	0.035808	T	0.00580	0.0019	L	0.41492	1.28	0.09310	N	1	B;B;B;B;B;B	0.13145	0.007;0.001;0.0;0.007;0.001;0.0	B;B;B;B;B;B	0.13407	0.009;0.003;0.002;0.006;0.005;0.002	T	0.48969	-0.8987	10	0.49607	T	0.09	.	3.6905	0.08344	0.6068:0.2642:0.129:0.0	.	118;130;225;130;225;225	O76036-5;B0V3L4;B0V3L5;B0V3L2;O76036-6;O76036	.;.;.;.;.;NCTR1_HUMAN	P	225;225;225;130;118	ENSP00000291890:T225P;ENSP00000404434:T225P;ENSP00000339515:T225P;ENSP00000344358:T130P;ENSP00000349972:T118P	ENSP00000291890:T225P	T	+	1	0	NCR1	60113228	0.002000	0.14202	0.004000	0.12327	0.384000	0.30261	0.650000	0.24858	0.118000	0.18165	0.472000	0.43445	ACC	NCR1	-	NULL	ENSG00000189430		0.463	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	HGNC	protein_coding	OTTHUMT00000465680.1	237	0.42	1	A			55421416	55421416	+1	no_errors	ENST00000291890	ensembl	human	known	69_37n	missense	257	10.07	29	SNP	0.004	C
NDRG1	10397	genome.wustl.edu	37	8	134296567	134296567	+	5'UTR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:134296567A>C	ENST00000414097.2	-	0	855				NDRG1_ENST00000518066.1_5'UTR|NDRG1_ENST00000522476.1_Intron|NDRG1_ENST00000354944.5_5'UTR|NDRG1_ENST00000323851.7_5'UTR|NDRG1_ENST00000537882.1_5'UTR|NDRG1_ENST00000518176.1_5'UTR	NM_001135242.1	NP_001128714.1	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1						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)			CCCTGCTGTCACCTGCCTGCA	0.542			T	ERG	prostate																																	dbGAP		Dom	yes		8	8q24.3	10397	N-myc downstream regulated 1		E	0													159.0	120.0	133.0					8																	134296567		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_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.-13T>G	8.37:g.134296567A>C			B3KR80|B7Z446|O15207|Q6IBG2|Q9NYR6|Q9UK29	Silent	SNP	pfam_Ndr	p.G13	ENST00000414097.2	37	c.39	CCDS34945.1	8																																																																																			NDRG1	-	NULL	ENSG00000104419		0.542	NDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDRG1	HGNC	protein_coding	OTTHUMT00000378805.1	113	0.87	1	A			134296567	134296567	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000520230	ensembl	human	putative	69_37n	silent	187	10.05	21	SNP	1.000	C
NDUFB8	4714	genome.wustl.edu	37	10	102286175	102286175	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:102286175T>G	ENST00000299166.4	-	4	461	c.449A>C	c.(448-450)tAc>tCc	p.Y150S	NDUFB8_ENST00000370322.1_Missense_Mutation_p.Y119S|NDUFB8_ENST00000370320.4_Missense_Mutation_p.Y150S|NDUFB8_ENST00000557395.1_Missense_Mutation_p.Y150S|SEC31B_ENST00000535773.1_Intron|NDUFB8_ENST00000531258.1_Missense_Mutation_p.Y150S	NM_005004.2	NP_004995.1	O95169	NDUB8_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa	150					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)		GTAGACAGGGTACACGTCCCC	0.532																																						dbGAP											0													97.0	79.0	85.0					10																	102286175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044958	CCDS7497.1, CCDS65916.1, CCDS65917.1	10q24.31	2011-07-04	2002-08-29		ENSG00000166136	ENSG00000166136		"""Mitochondrial respiratory chain complex / Complex I"""	7703	protein-coding gene	gene with protein product	"""complex I ASHI subunit"""	602140	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8 (19kD, ASHI)"""			9763676	Standard	NM_001284368		Approved	ASHI, CI-ASHI	uc001kri.1	O95169	OTTHUMG00000019346	ENST00000299166.4:c.449A>C	10.37:g.102286175T>G	ENSP00000299166:p.Tyr150Ser		A8K0L4|Q5W143|Q5W144|Q5W145|Q9UG53|Q9UJR4|Q9UQF3	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_ASHI_su,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8	p.Y150S	ENST00000299166.4	37	c.449	CCDS7497.1	10	.	.	.	.	.	.	.	.	.	.	T	13.10	2.136932	0.37728	.	.	ENSG00000166136	ENST00000531258;ENST00000299166;ENST00000370322;ENST00000370320	.	.	.	5.69	4.51	0.55191	.	0.432388	0.26241	N	0.025519	T	0.68339	0.2990	M	0.75615	2.305	0.35851	D	0.826803	P	0.50066	0.931	P	0.54965	0.765	T	0.75121	-0.3429	9	0.45353	T	0.12	-10.6321	11.2148	0.48819	0.1653:0.0:0.0:0.8347	.	150	O95169	NDUB8_HUMAN	S	150;150;119;150	.	ENSP00000299166:Y150S	Y	-	2	0	NDUFB8	102276165	0.998000	0.40836	0.105000	0.21289	0.005000	0.04900	3.156000	0.50708	0.901000	0.36495	0.454000	0.30748	TAC	NDUFB8	-	pfam_NADH_UbQ_OxRdtase_ASHI_su,pirsf_NADH_UbQ_OxRdtase_b-cplx_su8	ENSG00000166136		0.532	NDUFB8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB8	HGNC	protein_coding	OTTHUMT00000051225.1	133	0.74	1	T	NM_005004		102286175	102286175	-1	no_errors	ENST00000299166	ensembl	human	known	69_37n	missense	66	16.46	13	SNP	0.979	G
NEB	4703	genome.wustl.edu	37	2	152435922	152435922	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:152435922T>G	ENST00000172853.10	-	78	11749				NEB_ENST00000427231.2_Missense_Mutation_p.H5545P|NEB_ENST00000409198.1_Intron|NEB_ENST00000397345.3_Missense_Mutation_p.H5545P|NEB_ENST00000604864.1_Missense_Mutation_p.H5545P|NEB_ENST00000603639.1_Missense_Mutation_p.H5545P			P20929	NEBU_HUMAN	nebulin						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)		AGACCAGCGGTGCAGGTAATG	0.547																																						dbGAP											0													441.0	307.0	348.0					2																	152435922		692	1586	2278	-	-	-	SO:0001627	intron_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.11602-3054A>C	2.37:g.152435922T>G			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.H5545P	ENST00000172853.10	37	c.16634		2	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971650	0.53614	.	.	ENSG00000183091	ENST00000397345;ENST00000427231;ENST00000413693	T;T;T	0.42900	0.96;0.96;0.96	4.95	4.95	0.65309	.	.	.	.	.	T	0.63710	0.2534	M	0.75150	2.29	0.80722	D	1	D	0.62365	0.991	D	0.76071	0.987	T	0.64525	-0.6387	9	0.41790	T	0.15	.	15.0723	0.72046	0.0:0.0:0.0:1.0	.	275	Q14215	.	P	5545;5545;275	ENSP00000380505:H5545P;ENSP00000416578:H5545P;ENSP00000410961:H275P	ENSP00000380505:H5545P	H	-	2	0	NEB	152144168	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	7.819000	0.86621	2.206000	0.71126	0.421000	0.28195	CAC	NEB	-	smart_Nebulin_35r-motif	ENSG00000183091		0.547	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		348	0.57	2	T	NM_004543		152435922	152435922	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	332	13.40	52	SNP	1.000	G
NEBL	10529	genome.wustl.edu	37	10	21461251	21461251	+	5'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:21461251T>G	ENST00000464278.1	-	0	229				NEBL-AS1_ENST00000439097.1_RNA|NEBL-AS1_ENST00000417845.1_RNA|NEBL_ENST00000417816.2_Intron			O76041	NEBL_HUMAN	nebulette						cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AACAGGCAGGTCCACTGGCTC	0.493																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000464278.1:c.-776A>C	10.37:g.21461251T>G			B0YJ45|Q2TBD0|Q70I54|Q9UIC4	RNA	SNP	-	NULL	ENST00000464278.1	37	NULL		10																																																																																			NEBL	-	-	ENSG00000078114		0.493	NEBL-008	KNOWN	basic	processed_transcript	NEBL	HGNC	protein_coding	OTTHUMT00000047117.1	160	0.00	0	T	NM_006393		21461251	21461251	-1	no_errors	ENST00000464278	ensembl	human	known	69_37n	rna	130	15.03	23	SNP	0.000	G
NEFH	4744	genome.wustl.edu	37	22	29886250	29886250	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:29886250T>G	ENST00000310624.6	+	4	2654	c.2621T>G	c.(2620-2622)gTg>gGg	p.V874G		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	880	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGCCCAAGGTGGAGGAGAAG	0.507																																						dbGAP											0													49.0	51.0	50.0					22																	29886250		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2621T>G	22.37:g.29886250T>G	ENSP00000311997:p.Val874Gly		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_F,pfam_DUF1388	p.V874G	ENST00000310624.6	37	c.2621	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	T	0.057	-1.233012	0.01505	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.83506	-1.73	4.41	-6.49	0.01890	.	1.042650	0.07691	N	0.938817	T	0.78027	0.4219	L	0.50333	1.59	0.20821	N	0.999849	B	0.24186	0.099	B	0.19391	0.025	T	0.62058	-0.6934	10	0.66056	D	0.02	.	16.6959	0.85335	0.0:0.6342:0.0:0.3658	.	880	P12036	NFH_HUMAN	G	825;874	ENSP00000311997:V874G	ENSP00000311997:V874G	V	+	2	0	NEFH	28216250	0.000000	0.05858	0.001000	0.08648	0.452000	0.32318	-2.576000	0.00910	-1.482000	0.01860	-0.408000	0.06270	GTG	NEFH	-	NULL	ENSG00000100285		0.507	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	279	0.35	1	T	NM_021076		29886250	29886250	+1	no_errors	ENST00000310624	ensembl	human	known	69_37n	missense	86	18.10	19	SNP	0.000	G
NEGR1	257194	genome.wustl.edu	37	1	72748125	72748125	+	Missense_Mutation	SNP	G	G	C	rs199585673		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:72748125G>C	ENST00000357731.5	-	1	292	c.53C>G	c.(52-54)gCg>gGg	p.A18G	NEGR1_ENST00000434200.1_Missense_Mutation_p.A16G	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	18					feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|positive regulation of neuron projection development (GO:0010976)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GAGCACCGCCGCCAGCCACTG	0.632																																						dbGAP											0													83.0	68.0	73.0					1																	72748125		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092307	CCDS661.1	1p31.1	2013-01-11			ENSG00000172260	ENSG00000172260		"""Immunoglobulin superfamily / I-set domain containing"""	17302	protein-coding gene	gene with protein product	"""a kindred of IgLON"", ""neurotractin"", ""IgLON family member 4"""	613173				10075727	Standard	NM_173808		Approved	KILON, MGC46680, Ntra, IGLON4	uc001dfw.3	Q7Z3B1	OTTHUMG00000009698	ENST00000357731.5:c.53C>G	1.37:g.72748125G>C	ENSP00000350364:p.Ala18Gly		Q5VT21|Q6UY06|Q8N440|Q8NAQ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A18G	ENST00000357731.5	37	c.53	CCDS661.1	1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950266	0.73787	.	.	ENSG00000172260	ENST00000357731;ENST00000434200	T;T	0.72725	0.6;-0.68	5.25	5.25	0.73442	.	0.059525	0.64402	D	0.000002	T	0.40040	0.1101	N	0.19112	0.55	0.37721	D	0.924933	P;P	0.44690	0.793;0.841	B;B	0.35607	0.066;0.206	T	0.44159	-0.9346	10	0.25751	T	0.34	-9.5223	16.3288	0.82997	0.0:0.0:1.0:0.0	.	16;18	B4DI94;Q7Z3B1	.;NEGR1_HUMAN	G	18;16	ENSP00000350364:A18G;ENSP00000413294:A16G	ENSP00000350364:A18G	A	-	2	0	NEGR1	72520713	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.559000	0.73946	2.457000	0.83068	0.561000	0.74099	GCG	NEGR1	-	NULL	ENSG00000172260		0.632	NEGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEGR1	HGNC	protein_coding	OTTHUMT00000026722.4	108	0.91	1	G	NM_173808		72748125	72748125	-1	no_errors	ENST00000357731	ensembl	human	known	69_37n	missense	40	25.93	14	SNP	1.000	C
NELL1	4745	genome.wustl.edu	37	11	20950007	20950007	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:20950007T>G	ENST00000357134.5	+	9	1131	c.979T>G	c.(979-981)Tgc>Ggc	p.C327G	NELL1_ENST00000532434.1_Missense_Mutation_p.C327G|NELL1_ENST00000325319.5_Missense_Mutation_p.C270G|NELL1_ENST00000298925.5_Missense_Mutation_p.C355G	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	327	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				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						TGCTGGCCAGTGCTGTAAGGT	0.507																																						dbGAP											0													147.0	117.0	127.0					11																	20950007		2203	4300	6503	-	-	-	SO:0001583	missense	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.979T>G	11.37:g.20950007T>G	ENSP00000349654:p.Cys327Gly		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Missense_Mutation	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.C327G	ENST00000357134.5	37	c.979	CCDS7855.1	11	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292703	0.80914	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13	5.93	5.93	0.95920	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.97873	0.9301	H	0.98996	4.395	0.58432	D	0.999999	P;P;D;P	0.89917	0.649;0.698;1.0;0.565	B;B;D;B	0.80764	0.23;0.341;0.994;0.341	D	0.99104	1.0844	10	0.56958	D	0.05	-3.0864	16.3695	0.83350	0.0:0.0:0.0:1.0	.	270;355;327;327	F5H6I3;B3KXR2;Q92832-2;Q92832	.;.;.;NELL1_HUMAN	G	355;327;270;327	ENSP00000298925:C355G;ENSP00000349654:C327G;ENSP00000317837:C270G;ENSP00000437170:C327G	ENSP00000298925:C355G	C	+	1	0	NELL1	20906583	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.964000	0.76061	2.261000	0.74972	0.459000	0.35465	TGC	NELL1	-	pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000165973		0.507	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	164	0.00	0	T	NM_006157		20950007	20950007	+1	no_errors	ENST00000357134	ensembl	human	known	69_37n	missense	175	12.50	25	SNP	1.000	G
NEO1	4756	genome.wustl.edu	37	15	73581572	73581572	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:73581572A>C	ENST00000339362.5	+	26	4182	c.3735A>C	c.(3733-3735)ccA>ccC	p.P1245P	NEO1_ENST00000261908.6_Silent_p.P1245P|NEO1_ENST00000558964.1_Silent_p.P1234P|NEO1_ENST00000560262.1_Silent_p.P1245P			Q92859	NEO1_HUMAN	neogenin 1	1245					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACTCCCAGCCACCCCAGCGTA	0.458																																						dbGAP											0													154.0	102.0	119.0					15																	73581572		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.3735A>C	15.37:g.73581572A>C			B7ZKM9|B7ZKN0|O00340|Q17RX1	Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1245	ENST00000339362.5	37	c.3735	CCDS10247.1	15																																																																																			NEO1	-	pfam_Neogenin_C	ENSG00000067141		0.458	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEO1	HGNC	protein_coding	OTTHUMT00000257472.2	174	0.57	1	A	NM_002499		73581572	73581572	+1	no_errors	ENST00000261908	ensembl	human	known	69_37n	silent	104	11.86	14	SNP	0.869	C
NES	10763	genome.wustl.edu	37	1	156642723	156642723	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:156642723A>C	ENST00000368223.3	-	4	1389	c.1257T>G	c.(1255-1257)ggT>ggG	p.G419G		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	419	Tail.				brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTTCCTCCCACCCTGTGTCT	0.662																																						dbGAP											0													45.0	54.0	51.0					1																	156642723		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.1257T>G	1.37:g.156642723A>C			O00552|Q3LIF5|Q5SYZ6	Silent	SNP	pfam_F	p.G419	ENST00000368223.3	37	c.1257	CCDS1151.1	1																																																																																			NES	-	NULL	ENSG00000132688		0.662	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NES	HGNC	protein_coding	OTTHUMT00000082844.2	64	0.00	0	A	NM_006617		156642723	156642723	-1	no_errors	ENST00000368223	ensembl	human	known	69_37n	silent	96	10.19	11	SNP	0.000	C
NEURL4	84461	genome.wustl.edu	37	17	7226126	7226126	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:7226126T>G	ENST00000399464.2	-	16	2668	c.2653A>C	c.(2653-2655)Acc>Ccc	p.T885P	NEURL4_ENST00000570460.1_Missense_Mutation_p.T861P|NEURL4_ENST00000315614.7_Missense_Mutation_p.T883P	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	885						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATGGGGCCGGTGGCATTGGTG	0.632																																						dbGAP											0													175.0	189.0	185.0					17																	7226126		2122	4234	6356	-	-	-	SO:0001583	missense	0				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2653A>C	17.37:g.7226126T>G	ENSP00000382390:p.Thr885Pro		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	pfam_Neu_Z,superfamily_ConA-like_lec_gl,smart_Neu_Z,pfscan_Neu_Z	p.T885P	ENST00000399464.2	37	c.2653	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843003	0.51057	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.32753	1.44;1.46	5.48	5.48	0.80851	.	0.127118	0.53938	D	0.000057	T	0.20129	0.0484	N	0.08118	0	0.38226	D	0.940907	P;P	0.45827	0.867;0.838	B;B	0.44044	0.439;0.348	T	0.13308	-1.0514	10	0.26408	T	0.33	-25.3466	14.8276	0.70125	0.0:0.0:0.0:1.0	.	883;885	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	P	883;885	ENSP00000319826:T883P;ENSP00000382390:T885P	ENSP00000319826:T883P	T	-	1	0	NEURL4	7166850	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.438000	0.59961	2.206000	0.71126	0.460000	0.39030	ACC	NEURL4	-	superfamily_ConA-like_lec_gl	ENSG00000215041		0.632	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	HGNC	protein_coding	OTTHUMT00000255434.2	174	0.57	1	T	NM_032442		7226126	7226126	-1	no_errors	ENST00000399464	ensembl	human	known	69_37n	missense	121	14.79	21	SNP	1.000	G
NF2	4771	genome.wustl.edu	37	22	30051650	30051650	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:30051650A>C	ENST00000338641.4	+	6	1025	c.584A>C	c.(583-585)cAc>cCc	p.H195P	NF2_ENST00000361452.4_Missense_Mutation_p.H154P|NF2_ENST00000403435.1_Missense_Mutation_p.H195P|NF2_ENST00000361166.4_Missense_Mutation_p.H195P|NF2_ENST00000397789.3_Missense_Mutation_p.H195P|NF2_ENST00000403999.3_Missense_Mutation_p.H195P|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Missense_Mutation_p.H112P|NF2_ENST00000347330.5_Intron|NF2_ENST00000334961.7_Missense_Mutation_p.H112P|NF2_ENST00000361676.4_Missense_Mutation_p.H153P	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	195	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TACGCAGAGCACCGAGGCCGA	0.403			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													dbGAP	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	3	Unknown(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)											89.0	94.0	92.0					22																	30051650		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.584A>C	22.37:g.30051650A>C	ENSP00000344666:p.His195Pro		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,prints_Tropomyosin,pfscan_FERM_domain	p.H195P	ENST00000338641.4	37	c.584	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415946	0.83449	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	T;T;T;T;T;T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17;-1.17	5.41	5.41	0.78517	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	H	0.95917	3.74	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	0.991;0.999;0.999;0.995;0.996;0.996	D	0.94316	0.7549	9	.	.	.	.	15.4334	0.75121	1.0:0.0:0.0:0.0	.	154;195;195;153;112;195	P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;MERL_HUMAN;.;.;.;.	P	195;195;154;195;195;112;112;195;153;195	ENSP00000344666:H195P;ENSP00000384029:H195P;ENSP00000354897:H154P;ENSP00000384797:H195P;ENSP00000335652:H112P;ENSP00000340626:H112P;ENSP00000380891:H195P;ENSP00000355183:H153P;ENSP00000354529:H195P	.	H	+	2	0	NF2	28381650	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.137000	0.94496	2.039000	0.60335	0.454000	0.30748	CAC	NF2	-	pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000186575		0.403	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	HGNC	protein_coding	OTTHUMT00000075615.3	191	0.52	1	A	NM_000268		30051650	30051650	+1	no_errors	ENST00000338641	ensembl	human	known	69_37n	missense	147	15.43	27	SNP	1.000	C
NFATC1	4772	genome.wustl.edu	37	18	77208908	77208908	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:77208908A>C	ENST00000427363.2	+	4	1513	c.1513A>C	c.(1513-1515)Acc>Ccc	p.T505P	NFATC1_ENST00000397790.2_Missense_Mutation_p.T33P|NFATC1_ENST00000542384.1_Missense_Mutation_p.T505P|NFATC1_ENST00000591814.1_Missense_Mutation_p.T505P|NFATC1_ENST00000329101.4_Missense_Mutation_p.T492P|NFATC1_ENST00000545796.1_Missense_Mutation_p.T33P|NFATC1_ENST00000253506.5_Missense_Mutation_p.T505P|NFATC1_ENST00000587635.1_Missense_Mutation_p.T505P|NFATC1_ENST00000318065.5_Missense_Mutation_p.T492P|NFATC1_ENST00000586434.1_Missense_Mutation_p.T492P|NFATC1_ENST00000592223.1_Missense_Mutation_p.T492P			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	505	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|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)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|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 distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CGTGTCCACCACCAGCCACGA	0.652																																					GBM(151;1210 2593 28719 45011)	dbGAP											0													70.0	58.0	62.0					18																	77208908		2203	4300	6503	-	-	-	SO:0001583	missense	0			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.1513A>C	18.37:g.77208908A>C	ENSP00000389377:p.Thr505Pro		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT,pfscan_RHD	p.T505P	ENST00000427363.2	37	c.1513		18	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001793	0.35320	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000397790;ENST00000542384;ENST00000329101;ENST00000545796;ENST00000427363;ENST00000397794	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.97	3.81	0.43845	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.427574	0.27168	N	0.020611	T	0.13586	0.0329	N	0.00368	-1.59	0.39287	D	0.96467	B;B;B;B;B;B;B	0.10296	0.001;0.001;0.001;0.003;0.003;0.001;0.001	B;B;B;B;B;B;B	0.18263	0.008;0.008;0.012;0.021;0.021;0.01;0.012	T	0.07404	-1.0774	10	0.54805	T	0.06	-34.755	10.5101	0.44857	0.9236:0.0:0.0764:0.0	.	492;492;505;505;505;492;505	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	P	505;505;33;505;492;33;492;469	ENSP00000253506:T505P;ENSP00000380892:T33P;ENSP00000442435:T505P;ENSP00000327850:T492P;ENSP00000439992:T33P	ENSP00000253506:T505P	T	+	1	0	NFATC1	75309896	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.927000	0.40094	0.749000	0.32854	0.533000	0.62120	ACC	NFATC1	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD	ENSG00000131196		0.652	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	58	0.00	0	A	NM_172390		77208908	77208908	+1	no_errors	ENST00000427363	ensembl	human	known	69_37n	missense	47	21.67	13	SNP	1.000	C
NFATC4	4776	genome.wustl.edu	37	14	24836313	24836313	+	5'Flank	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:24836313A>C	ENST00000250373.4	+	0	0				NFATC4_ENST00000555590.1_5'Flank|NFATC4_ENST00000424781.2_5'Flank|NFATC4_ENST00000553879.1_5'Flank|NFATC4_ENST00000554591.1_Missense_Mutation_p.H18P|NFATC4_ENST00000539237.2_5'Flank|NFATC4_ENST00000413692.2_Missense_Mutation_p.H18P|NFATC4_ENST00000555453.1_5'Flank|NFATC4_ENST00000554050.1_5'Flank|NFATC4_ENST00000556169.1_5'Flank|NFATC4_ENST00000557451.1_5'Flank|NFATC4_ENST00000554661.1_5'Flank|NFATC4_ENST00000554344.1_5'Flank|NFATC4_ENST00000553469.1_5'Flank|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000554966.1_5'Flank|NFATC4_ENST00000556279.1_5'Flank|NFATC4_ENST00000422617.3_5'Flank|NFATC4_ENST00000553708.1_5'Flank	NM_004554.4	NP_004545.2	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4						cellular respiration (GO:0045333)|cellular response to lithium ion (GO:0071285)|cellular response to UV (GO:0034644)|heart development (GO:0007507)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of synaptic plasticity (GO:0048167)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGTATCTCCCACCGAGTCACG	0.562																																						dbGAP											0													141.0	148.0	145.0					14																	24836313		1568	3582	5150	-	-	-	SO:0001631	upstream_gene_variant	0			BC053855	CCDS9629.1, CCDS45089.1, CCDS55909.1, CCDS55910.1, CCDS55911.1, CCDS73625.1	14q11.2	2009-11-24			ENSG00000100968	ENSG00000100968		"""Nuclear factor of activated T-cells"""	7778	protein-coding gene	gene with protein product		602699				7749981	Standard	NM_004554		Approved	NFAT3	uc010tok.2	Q14934	OTTHUMG00000029351		14.37:g.24836313A>C	Exception_encountered		B4DDG5|B4DY55|B5B2U7|B5B2U8|B5B2U9|B5B2V0|B5B2V1|B5B2V2|B5B2V3|B5B2V4|B5B2V5|B5B2V7|B5B2V8|B5B2V9|B5B2W0|B5B2W1|B5B2W2|B5B2W3|B5B2W4|B5B2W5|B5B2W6|B5B2W7|B5B2W8|B5B2W9|B5B2X0|Q7Z598|Q96H68	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.H18P	ENST00000250373.4	37	c.53	CCDS9629.1	14	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091356	0.36855	.	.	ENSG00000100968	ENST00000413692;ENST00000554591	T;T	0.07216	3.21;3.22	2.87	-2.96	0.05547	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	0.999994	B;B;B	0.18968	0.032;0.032;0.009	B;B;B	0.16722	0.016;0.016;0.016	T	0.42310	-0.9459	9	0.87932	D	0	.	2.5223	0.04682	0.4226:0.2832:0.0:0.2942	.	18;18;18	Q14934-2;Q14934-3;Q14934-11	.;.;.	P	18	ENSP00000388910:H18P;ENSP00000452039:H18P	ENSP00000388910:H18P	H	+	2	0	NFATC4	23906153	0.018000	0.18449	0.000000	0.03702	0.006000	0.05464	0.349000	0.20055	-0.132000	0.11557	0.254000	0.18369	CAC	NFATC4	-	NULL	ENSG00000100968		0.562	NFATC4-001	KNOWN	basic|CCDS	protein_coding	NFATC4	HGNC	protein_coding	OTTHUMT00000073206.6	190	0.52	1	A	NM_004554		24836313	24836313	+1	no_errors	ENST00000413692	ensembl	human	known	69_37n	missense	245	10.58	29	SNP	0.000	C
NFKBIE	4794	genome.wustl.edu	37	6	44228253	44228253	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:44228253T>G	ENST00000275015.5	-	4	1131	c.1132A>C	c.(1132-1134)Acc>Ccc	p.T378P	SLC35B2_ENST00000393810.1_5'Flank|SLC35B2_ENST00000495706.1_5'Flank|SLC35B2_ENST00000538577.1_5'Flank|SLC35B2_ENST00000393812.3_5'Flank|SLC35B2_ENST00000537814.1_5'Flank	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	378					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCTGAAGGGTGGCAATGTGG	0.577																																						dbGAP											0													161.0	156.0	158.0					6																	44228253		2203	4300	6503	-	-	-	SO:0001583	missense	0			U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.1132A>C	6.37:g.44228253T>G	ENSP00000275015:p.Thr378Pro		Q5T9V9	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.T378P	ENST00000275015.5	37	c.1132	CCDS34463.1	6	.	.	.	.	.	.	.	.	.	.	T	13.12	2.141539	0.37825	.	.	ENSG00000146232	ENST00000275015	T	0.64618	-0.11	4.52	4.52	0.55395	Ankyrin repeat-containing domain (3);	0.244896	0.35262	N	0.003324	T	0.45975	0.1369	M	0.71296	2.17	0.42253	D	0.991983	B	0.27013	0.166	B	0.24848	0.056	T	0.57957	-0.7721	10	0.66056	D	0.02	-24.54	9.4595	0.38776	0.0:0.0:0.1778:0.8222	.	378	O00221	IKBE_HUMAN	P	378	ENSP00000275015:T378P	ENSP00000275015:T378P	T	-	1	0	NFKBIE	44336231	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.771000	0.55318	1.895000	0.54865	0.533000	0.62120	ACC	NFKBIE	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000146232		0.577	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIE	HGNC	protein_coding	OTTHUMT00000040733.2	260	0.38	1	T			44228253	44228253	-1	no_errors	ENST00000275015	ensembl	human	known	69_37n	missense	274	13.02	41	SNP	1.000	G
NFX1	4799	genome.wustl.edu	37	9	33351758	33351758	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:33351758A>C	ENST00000379540.3	+	16	2687	c.2625A>C	c.(2623-2625)tcA>tcC	p.S875S	Y_RNA_ENST00000363674.1_RNA|NFX1_ENST00000379521.4_Silent_p.S875S	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	875					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ATACCAGCTCACCCTGCCCTG	0.547																																						dbGAP											0													72.0	66.0	68.0					9																	33351758		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2625A>C	9.37:g.33351758A>C			A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Silent	SNP	pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd	p.S875	ENST00000379540.3	37	c.2625	CCDS6538.1	9																																																																																			NFX1	-	smart_Znf_NFX1	ENSG00000086102		0.547	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFX1	HGNC	protein_coding	OTTHUMT00000052069.1	116	0.85	1	A			33351758	33351758	+1	no_errors	ENST00000379540	ensembl	human	known	69_37n	silent	62	23.46	19	SNP	0.109	C
NID2	22795	genome.wustl.edu	37	14	52505564	52505564	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:52505564T>G	ENST00000216286.5	-	9	2157	c.2158A>C	c.(2158-2160)Acc>Ccc	p.T720P	NID2_ENST00000541773.1_Missense_Mutation_p.T667P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	720	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGCTGGGTGGTGGGGAAGGAC	0.527																																						dbGAP											0													125.0	125.0	125.0					14																	52505564		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.2158A>C	14.37:g.52505564T>G	ENSP00000216286:p.Thr720Pro		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1	p.T720P	ENST00000216286.5	37	c.2158	CCDS9706.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.527|5.527	0.282117|0.282117	0.10458|0.10458	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	.|T;T	.|0.22134	.|1.97;1.97	6.17|6.17	-12.3|-12.3	0.00002|0.00002	.|G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	.|1.275760	.|0.04648	.|N	.|0.406630	T|T	0.12561|0.12561	0.0305|0.0305	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	.|B;P;P;B	.|0.51240	.|0.001;0.813;0.943;0.002	.|B;B;P;B	.|0.47470	.|0.005;0.353;0.548;0.004	T|T	0.21211|0.21211	-1.0252|-1.0252	5|10	.|0.19590	.|T	.|0.45	.|.	7.7151|7.7151	0.28700|0.28700	0.2638:0.5054:0.0715:0.1593|0.2638:0.5054:0.0715:0.1593	.|.	.|314;667;722;720	.|E7EPP3;Q14112-2;Q5CZI2;Q14112	.|.;.;.;NID2_HUMAN	P|P	36|720;314;667;722	.|ENSP00000216286:T720P;ENSP00000443730:T667P	.|ENSP00000216286:T720P	H|T	-|-	2|1	0|0	NID2|NID2	51575314|51575314	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.025000|0.025000	0.11179|0.11179	-2.874000|-2.874000	0.00718|0.00718	-2.672000|-2.672000	0.00413|0.00413	-0.256000|-0.256000	0.11100|0.11100	CAC|ACC	NID2	-	superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F	ENSG00000087303		0.527	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NID2	HGNC	protein_coding	OTTHUMT00000276888.1	274	0.36	1	T			52505564	52505564	-1	no_errors	ENST00000216286	ensembl	human	known	69_37n	missense	238	13.00	36	SNP	0.000	G
NKAIN4	128414	genome.wustl.edu	37	20	61880297	61880297	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:61880297A>C	ENST00000370316.3	-	3	282				NKAIN4_ENST00000370313.1_Intron|NKAIN4_ENST00000370307.2_Intron|NKAIN4_ENST00000466885.1_5'Flank	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					TCCCGGGCACACCTGCTTGCA	0.652																																						dbGAP											0													35.0	27.0	30.0					20																	61880297		2198	4297	6495	-	-	-	SO:0001627	intron_variant	0			BC041812	CCDS13514.1	20q13.33	2007-10-04	2007-10-04	2007-10-04	ENSG00000101198	ENSG00000101198		"""Na+/K+ transporting ATPase interacting"""	16191	protein-coding gene	gene with protein product		612873	"""chromosome 20 open reading frame 58"""	C20orf58		17606467	Standard	NM_152864		Approved	bA261N11.2, FAM77A	uc002yek.3	Q8IVV8	OTTHUMG00000032959	ENST00000370316.3:c.193-50T>G	20.37:g.61880297A>C			Q4VXQ6|Q9BQU8|Q9BQU9	RNA	SNP	-	NULL	ENST00000370316.3	37	NULL	CCDS13514.1	20																																																																																			NKAIN4	-	-	ENSG00000101198		0.652	NKAIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN4	HGNC	protein_coding	OTTHUMT00000080117.3	30	0.00	0	A	NM_152864		61880297	61880297	-1	no_errors	ENST00000472670	ensembl	human	putative	69_37n	rna	19	20.00	5	SNP	0.000	C
NMT1	4836	genome.wustl.edu	37	17	43180407	43180407	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:43180407A>C	ENST00000592782.1	+	10	1213	c.1082A>C	c.(1081-1083)cAc>cCc	p.H361P	NMT1_ENST00000258960.2_Missense_Mutation_p.H361P			P30419	NMT1_HUMAN	N-myristoyltransferase 1	361					apoptotic process (GO:0006915)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AAGCAATTTCACCTTACGCCC	0.547																																						dbGAP											0													163.0	152.0	156.0					17																	43180407		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11494.1	17q21.31	2012-10-02			ENSG00000136448	ENSG00000136448			7857	protein-coding gene	gene with protein product	"""alternative, short form NMT-S"", ""myristoyl-CoA:protein N-myristoyltransferase"", ""long form, NMT-L"""	160993				1570339	Standard	NM_021079		Approved	NMT	uc002ihz.3	P30419	OTTHUMG00000180003	ENST00000592782.1:c.1082A>C	17.37:g.43180407A>C	ENSP00000468424:p.His361Pro		A8K7C1|Q9UE09	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.H361P	ENST00000592782.1	37	c.1082	CCDS11494.1	17	.	.	.	.	.	.	.	.	.	.	A	21.0	4.082325	0.76528	.	.	ENSG00000136448	ENST00000258960	T	0.42513	0.97	5.17	5.17	0.71159	Acyl-CoA N-acyltransferase (2);Myristoyl-CoA:protein N-myristoyltransferase, C-terminal (1);	0.098404	0.64402	D	0.000002	T	0.59514	0.2199	M	0.65498	2.005	0.54753	D	0.999985	D;P	0.58268	0.982;0.583	D;P	0.64042	0.921;0.669	T	0.57207	-0.7851	10	0.31617	T	0.26	-13.3474	15.1839	0.72982	1.0:0.0:0.0:0.0	.	28;361	A4FU65;P30419	.;NMT1_HUMAN	P	361	ENSP00000258960:H361P	ENSP00000258960:H361P	H	+	2	0	NMT1	40535933	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.320000	0.79064	2.170000	0.68504	0.533000	0.62120	CAC	NMT1	-	pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	ENSG00000136448		0.547	NMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT1	HGNC	protein_coding	OTTHUMT00000449239.1	232	0.43	1	A	NM_021079		43180407	43180407	+1	no_errors	ENST00000258960	ensembl	human	known	69_37n	missense	128	11.72	17	SNP	1.000	C
NOG	9241	genome.wustl.edu	37	17	54672032	54672032	+	Missense_Mutation	SNP	T	T	G	rs200203403		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:54672032T>G	ENST00000332822.4	+	1	973	c.448T>G	c.(448-450)Tgg>Ggg	p.W150G		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	150					axial mesoderm development (GO:0048318)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal system development (GO:0048706)|endoderm formation (GO:0001706)|epithelial to mesenchymal transition (GO:0001837)|face morphogenesis (GO:0060325)|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060825)|in utero embryonic development (GO:0001701)|limb development (GO:0060173)|lung morphogenesis (GO:0060425)|mesoderm formation (GO:0001707)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell migration (GO:0030336)|negative regulation of cytokine activity (GO:0060302)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of glomerulus development (GO:0090193)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostatic bud formation (GO:0060513)|regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000313)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|somite development (GO:0061053)|spinal cord development (GO:0021510)|ureteric bud formation (GO:0060676)|wound healing (GO:0042060)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			ovary(1)	1	Breast(9;5.24e-08)					GATGTGGCTGTGGTCGCAGAC	0.612																																						dbGAP											0													49.0	48.0	48.0					17																	54672032		2203	4300	6503	-	-	-	SO:0001583	missense	0			U31202	CCDS11589.1	17q22	2006-04-25	2003-03-12		ENSG00000183691	ENSG00000183691			7866	protein-coding gene	gene with protein product		602991	"""synostoses (multiple) syndrome 1"", ""symphalangism 1 (proximal)"""	SYNS1, SYM1		7666191, 10080184, 11545688	Standard	NM_005450		Approved		uc002iup.2	Q13253	OTTHUMG00000151770	ENST00000332822.4:c.448T>G	17.37:g.54672032T>G	ENSP00000328181:p.Trp150Gly			Missense_Mutation	SNP	pfam_Noggin,pirsf_Noggin	p.W150G	ENST00000332822.4	37	c.448	CCDS11589.1	17	.	.	.	.	.	.	.	.	.	.	T	16.22	3.060442	0.55432	.	.	ENSG00000183691	ENST00000332822	D	0.98493	-4.96	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.98874	0.9619	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.99751	1.1018	10	0.87932	D	0	-5.118	14.419	0.67171	0.0:0.0:0.0:1.0	.	150	Q13253	NOGG_HUMAN	G	150	ENSP00000328181:W150G	ENSP00000328181:W150G	W	+	1	0	NOG	52027031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.014000	0.70784	1.991000	0.58162	0.460000	0.39030	TGG	NOG	-	pfam_Noggin,pirsf_Noggin	ENSG00000183691		0.612	NOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOG	HGNC	protein_coding	OTTHUMT00000323857.1	68	0.00	0	T	NM_005450		54672032	54672032	+1	no_errors	ENST00000332822	ensembl	human	known	69_37n	missense	36	18.18	8	SNP	1.000	G
NOP2	4839	genome.wustl.edu	37	12	6669374	6669374	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:6669374T>G	ENST00000322166.5	-	15	1800	c.1679A>C	c.(1678-1680)cAc>cCc	p.H560P	NOP2_ENST00000382421.3_Missense_Mutation_p.H593P|NOP2_ENST00000541778.1_Missense_Mutation_p.H556P|NOP2_ENST00000545200.1_Missense_Mutation_p.H556P|NOP2_ENST00000399466.2_Missense_Mutation_p.H556P|NOP2_ENST00000537442.1_Missense_Mutation_p.H560P|NOP2_ENST00000542015.1_5'UTR	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	560					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CAGACTGGGGTGGAAGCGCCT	0.502																																						dbGAP											0													84.0	88.0	87.0					12																	6669374		1914	4141	6055	-	-	-	SO:0001583	missense	0				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.1679A>C	12.37:g.6669374T>G	ENSP00000313272:p.His560Pro		A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p	p.H560P	ENST00000322166.5	37	c.1679	CCDS58203.1	12	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288884	0.80914	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778	T;T;T;T;T;T	0.17054	2.3;2.37;2.38;2.3;2.3;2.3	4.95	4.95	0.65309	.	0.044983	0.85682	D	0.000000	T	0.31263	0.0791	L	0.51422	1.61	0.80722	D	1	P;B	0.41131	0.739;0.287	P;B	0.53760	0.734;0.407	T	0.02676	-1.1125	10	0.72032	D	0.01	-32.2143	14.7847	0.69793	0.0:0.0:0.0:1.0	.	556;556	Q05BA7;P46087-2	.;.	P	560;593;556;556;560;556	ENSP00000444437:H560P;ENSP00000371858:H593P;ENSP00000439422:H556P;ENSP00000382392:H556P;ENSP00000313272:H560P;ENSP00000443150:H556P	ENSP00000313272:H560P	H	-	2	0	NOP2	6539635	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	7.659000	0.83766	2.077000	0.62373	0.533000	0.62120	CAC	NOP2	-	pfam_Fmu/NOL1/Nop2p,tigrfam_Nop2p	ENSG00000111641		0.502	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP2	HGNC	protein_coding	OTTHUMT00000402614.1	142	0.00	0	T	NM_006170		6669374	6669374	-1	no_errors	ENST00000322166	ensembl	human	known	69_37n	missense	98	16.24	19	SNP	1.000	G
NOTCH3	4854	genome.wustl.edu	37	19	15300144	15300144	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:15300144T>G	ENST00000263388.2	-	7	1207	c.1132A>C	c.(1132-1134)Acc>Ccc	p.T378P		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	378	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGAGGACAGGTGCAAATGGCC	0.607																																						dbGAP											0													86.0	88.0	87.0					19																	15300144		2203	4300	6503	-	-	-	SO:0001583	missense	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1132A>C	19.37:g.15300144T>G	ENSP00000263388:p.Thr378Pro		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom	p.T378P	ENST00000263388.2	37	c.1132	CCDS12326.1	19	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438041	0.62955	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.92647	-3.08	4.72	4.72	0.59763	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.96639	0.8903	M	0.93062	3.375	0.80722	D	1	P;D	0.69078	0.782;0.997	B;D	0.77557	0.397;0.99	D	0.97089	0.9789	9	0.56958	D	0.05	.	13.2069	0.59803	0.0:0.0:0.0:1.0	.	381;378	Q59FL3;Q9UM47	.;NOTC3_HUMAN	P	378;380	ENSP00000263388:T378P	ENSP00000263388:T378P	T	-	1	0	NOTCH3	15161144	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	7.545000	0.82128	1.770000	0.52166	0.260000	0.18958	ACC	NOTCH3	-	pfam_EGF-like_dom,smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom	ENSG00000074181		0.607	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	85	0.00	0	T	NM_000435		15300144	15300144	-1	no_errors	ENST00000263388	ensembl	human	known	69_37n	missense	56	18.84	13	SNP	1.000	G
NOTCH4	4855	genome.wustl.edu	37	6	32187939	32187939	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:32187939T>G	ENST00000375023.3	-	7	1420	c.1282A>C	c.(1282-1284)Acc>Ccc	p.T428P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	428	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGGTGGCAGGTGGGCCCCGAA	0.612																																						dbGAP											0													52.0	53.0	53.0					6																	32187939		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1282A>C	6.37:g.32187939T>G	ENSP00000364163:p.Thr428Pro		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.T428P	ENST00000375023.3	37	c.1282	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901584	0.33535	.	.	ENSG00000204301	ENST00000375023	D	0.94828	-3.53	4.35	4.35	0.52113	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.41605	D	0.000841	D	0.93913	0.8052	L	0.49778	1.585	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.91635	0.999;0.796	D	0.93885	0.7174	10	0.59425	D	0.04	.	6.4157	0.21715	0.0:0.109:0.0:0.891	.	428;428	Q6P3V5;Q99466	.;NOTC4_HUMAN	P	428	ENSP00000364163:T428P	ENSP00000364163:T428P	T	-	1	0	NOTCH4	32295917	0.449000	0.25689	1.000000	0.80357	0.609000	0.37215	0.805000	0.27112	1.814000	0.52955	0.254000	0.18369	ACC	NOTCH4	-	smart_EGF-like,pirsf_Notch,pfscan_EG-like_dom	ENSG00000204301		0.612	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	103	0.96	1	T			32187939	32187939	-1	no_errors	ENST00000375023	ensembl	human	known	69_37n	missense	56	29.11	23	SNP	1.000	G
NPEPL1	79716	genome.wustl.edu	37	20	57287617	57287617	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:57287617A>C	ENST00000356091.6	+	8	1271	c.983A>C	c.(982-984)cAc>cCc	p.H328P	NPEPL1_ENST00000525967.1_Missense_Mutation_p.H300P|RP11-261P9.4_ENST00000530479.1_RNA|NPEPL1_ENST00000525817.1_Missense_Mutation_p.H280P|STX16-NPEPL1_ENST00000530122.1_3'UTR	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	328						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GATGACATCCACCTGCTGTAC	0.602																																						dbGAP											0													146.0	156.0	153.0					20																	57287617		2107	4215	6322	-	-	-	SO:0001583	missense	0			AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.983A>C	20.37:g.57287617A>C	ENSP00000348395:p.His328Pro		A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	pfam_Peptidase_M17_C,prints_Peptidase_M17	p.H328P	ENST00000356091.6	37	c.983	CCDS46621.1	20	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239164	0.79800	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.41400	1.0;1.0;1.0	5.21	5.21	0.72293	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64929	0.2643	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.76494	0.997;0.993;0.999;0.999	D;D;D;D	0.77557	0.961;0.935;0.99;0.983	T	0.69030	-0.5253	10	0.59425	D	0.04	-32.6721	14.2728	0.66162	1.0:0.0:0.0:0.0	.	328;280;300;328	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	P	300;280;328	ENSP00000434810:H300P;ENSP00000437112:H280P;ENSP00000348395:H328P	ENSP00000348395:H328P	H	+	2	0	NPEPL1	56721024	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.084000	0.76866	1.957000	0.56846	0.533000	0.62120	CAC	NPEPL1	-	pfam_Peptidase_M17_C,prints_Peptidase_M17	ENSG00000215440		0.602	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPL1	HGNC	protein_coding	OTTHUMT00000080402.6	145	0.00	0	A	NM_024663		57287617	57287617	+1	no_errors	ENST00000356091	ensembl	human	known	69_37n	missense	104	17.32	22	SNP	1.000	C
NPHP4	261734	genome.wustl.edu	37	1	5923987	5923987	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:5923987T>G	ENST00000378156.4	-	29	4368	c.4103A>C	c.(4102-4104)cAc>cCc	p.H1368P	MIR4689_ENST00000582517.1_RNA|NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1368					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTCCGGGTGGTCGCTGTG	0.622																																						dbGAP											0													74.0	86.0	82.0					1																	5923987		1981	4157	6138	-	-	-	SO:0001583	missense	0			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.4103A>C	1.37:g.5923987T>G	ENSP00000367398:p.His1368Pro		Q8IWC0	Missense_Mutation	SNP	NULL	p.H1368P	ENST00000378156.4	37	c.4103	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.499612	0.44455	.	.	ENSG00000131697	ENST00000378156	D	0.87809	-2.3	5.3	-2.41	0.06562	.	0.617789	0.16004	N	0.234170	D	0.85066	0.5612	L	0.59436	1.845	0.09310	N	0.999997	D	0.56287	0.975	P	0.50490	0.642	T	0.78216	-0.2290	10	0.62326	D	0.03	.	7.4875	0.27441	0.0:0.482:0.1362:0.3818	.	1368	O75161	NPHP4_HUMAN	P	1368	ENSP00000367398:H1368P	ENSP00000367398:H1368P	H	-	2	0	NPHP4	5846574	0.014000	0.17966	0.011000	0.14972	0.584000	0.36387	0.077000	0.14738	-0.721000	0.04929	-0.256000	0.11100	CAC	NPHP4	-	NULL	ENSG00000131697		0.622	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	124	0.79	1	T			5923987	5923987	-1	no_errors	ENST00000378156	ensembl	human	known	69_37n	missense	102	18.11	23	SNP	0.270	G
NPNT	255743	genome.wustl.edu	37	4	106859498	106859498	+	Missense_Mutation	SNP	T	T	G	rs79192003		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:106859498T>G	ENST00000379987.2	+	5	642	c.426T>G	c.(424-426)tgT>tgG	p.C142W	NPNT_ENST00000305572.8_Missense_Mutation_p.C142W|NPNT_ENST00000427316.2_Missense_Mutation_p.C172W|NPNT_ENST00000506666.1_Missense_Mutation_p.C172W|NPNT_ENST00000514622.1_Missense_Mutation_p.C142W|NPNT_ENST00000453617.2_Missense_Mutation_p.C159W	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	142	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGTATGGCTGTGATGTTGTTA	0.493																																						dbGAP											0													98.0	88.0	92.0					4																	106859498		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.426T>G	4.37:g.106859498T>G	ENSP00000369323:p.Cys142Trp		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.C142W	ENST00000379987.2	37	c.426	CCDS34046.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.93|16.93	3.257421|3.257421	0.59321|0.59321	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000504304;ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	D;D;D;D;D;D;D;T|.	0.90197|.	-2.63;-2.63;-2.63;-1.82;-2.63;-2.63;-1.75;-0.95|.	5.22|5.22	2.72|2.72	0.32119|0.32119	Epidermal growth factor-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.80607|.	0.4655|.	H|H	0.94698|0.94698	3.57|3.57	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.999|.	D;D;D;D;D;D;D|.	0.97110|.	0.997;1.0;0.999;0.998;0.999;0.999;0.998|.	T|.	0.81604|.	-0.0857|.	10|.	0.87932|.	D|.	0|.	.|.	9.4061|9.4061	0.38462|0.38462	0.0:0.2735:0.0:0.7265|0.0:0.2735:0.0:0.7265	.|.	142;172;172;159;189;142;142|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	W|G	38;142;159;172;142;142;172;189|119	ENSP00000426951:C38W;ENSP00000369323:C142W;ENSP00000402884:C159W;ENSP00000389252:C172W;ENSP00000422044:C142W;ENSP00000302557:C142W;ENSP00000422474:C172W;ENSP00000426146:C189W|.	ENSP00000302557:C142W|.	C|X	+|+	3|1	2|0	NPNT|NPNT	107078947|107078947	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.879000|0.879000	0.50718|0.50718	0.445000|0.445000	0.21677|0.21677	0.374000|0.374000	0.24650|0.24650	0.533000|0.533000	0.62120|0.62120	TGT|TGA	NPNT	-	smart_EGF-like	ENSG00000168743		0.493	NPNT-001	KNOWN	basic|CCDS	protein_coding	NPNT	HGNC	protein_coding	OTTHUMT00000364083.1	94	0.00	0	T	NM_198278		106859498	106859498	+1	no_errors	ENST00000379987	ensembl	human	known	69_37n	missense	115	16.06	22	SNP	0.999	G
NPNT	255743	genome.wustl.edu	37	4	106888465	106888465	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:106888465T>G	ENST00000379987.2	+	11	1682	c.1466T>G	c.(1465-1467)gTg>gGg	p.V489G	NPNT_ENST00000305572.8_Missense_Mutation_p.V460G|NPNT_ENST00000427316.2_Missense_Mutation_p.V519G|NPNT_ENST00000506666.1_Missense_Mutation_p.V490G|NPNT_ENST00000514622.1_Missense_Mutation_p.V460G|NPNT_ENST00000453617.2_Missense_Mutation_p.V506G	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	489	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGGCACAAGGTGACGGGGCTG	0.612																																						dbGAP											0													45.0	44.0	45.0					4																	106888465		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.1466T>G	4.37:g.106888465T>G	ENSP00000369323:p.Val489Gly		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.V489G	ENST00000379987.2	37	c.1466	CCDS34046.1	4	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003563	0.35320	.	.	ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451	T;T;T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37;4.37;4.37	4.74	2.26	0.28386	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.308879	0.33572	N	0.004776	T	0.07683	0.0193	L	0.59436	1.845	0.48975	D	0.999731	D;D;D;D;D;D	0.71674	0.994;0.998;0.994;0.994;0.993;0.994	D;D;D;D;P;D	0.78314	0.912;0.991;0.991;0.991;0.857;0.991	T	0.05131	-1.0904	10	0.87932	D	0	.	7.0918	0.25287	0.1308:0.0724:0.0:0.7968	.	460;490;519;506;460;489	E9PF04;E9PE64;E9PCQ1;E9PCK8;Q6UXI9-2;Q6UXI9	.;.;.;.;.;NPNT_HUMAN	G	489;506;519;460;460;490;536	ENSP00000369323:V489G;ENSP00000402884:V506G;ENSP00000389252:V519G;ENSP00000422044:V460G;ENSP00000302557:V460G;ENSP00000422474:V490G;ENSP00000426146:V536G	ENSP00000302557:V460G	V	+	2	0	NPNT	107107914	1.000000	0.71417	0.805000	0.32314	0.040000	0.13550	4.564000	0.60830	0.271000	0.22005	-1.421000	0.01109	GTG	NPNT	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000168743		0.612	NPNT-001	KNOWN	basic|CCDS	protein_coding	NPNT	HGNC	protein_coding	OTTHUMT00000364083.1	87	0.00	0	T	NM_198278		106888465	106888465	+1	no_errors	ENST00000379987	ensembl	human	known	69_37n	missense	37	13.95	6	SNP	0.998	G
NPRL2	10641	genome.wustl.edu	37	3	50386414	50386414	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:50386414A>C	ENST00000232501.3	-	5	914	c.476T>G	c.(475-477)gTg>gGg	p.V159G	CYB561D2_ENST00000425346.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000232508.5_5'Flank|ZMYND10_ENST00000231749.3_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	159					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						CTGCTCAATCACCTTCAAGTG	0.537																																						dbGAP											0													99.0	101.0	100.0					3																	50386414		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"""tumor suppressor candidate 4"""	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.476T>G	3.37:g.50386414A>C	ENSP00000232501:p.Val159Gly		A8K831|Q6FGS2|Q9Y249|Q9Y497	Missense_Mutation	SNP	pfam_NPR2	p.V159G	ENST00000232501.3	37	c.476	CCDS2826.1	3	.	.	.	.	.	.	.	.	.	.	A	20.8	4.047700	0.75846	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.58	5.58	0.84498	.	0.056162	0.64402	D	0.000001	T	0.74329	0.3702	M	0.73962	2.25	0.80722	D	1	D	0.53462	0.96	P	0.55713	0.782	T	0.76105	-0.3081	9	0.46703	T	0.11	-22.5124	15.7486	0.77967	1.0:0.0:0.0:0.0	.	159	Q8WTW4	NPRL2_HUMAN	G	159	.	ENSP00000232501:V159G	V	-	2	0	NPRL2	50361418	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.253000	0.95501	2.122000	0.65172	0.533000	0.62120	GTG	NPRL2	-	pfam_NPR2	ENSG00000114388		0.537	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPRL2	HGNC	protein_coding	OTTHUMT00000346299.1	120	0.81	1	A	NM_006545		50386414	50386414	-1	no_errors	ENST00000232501	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	1.000	C
NR1D1	9572	genome.wustl.edu	37	17	38251774	38251774	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:38251774T>G	ENST00000246672.3	-	5	1801	c.1171A>C	c.(1171-1173)Acc>Ccc	p.T391P		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	391	Ligand-binding.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					TACACGTGGGTGGGGCATAGA	0.652																																						dbGAP											0													71.0	70.0	70.0					17																	38251774		2203	4300	6503	-	-	-	SO:0001583	missense	0			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.1171A>C	17.37:g.38251774T>G	ENSP00000246672:p.Thr391Pro		Q0P5Z4|Q15304	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.T391P	ENST00000246672.3	37	c.1171	CCDS11361.1	17	.	.	.	.	.	.	.	.	.	.	T	11.91	1.780629	0.31502	.	.	ENSG00000126368	ENST00000246672	D	0.90676	-2.71	5.02	3.92	0.45320	Nuclear hormone receptor, ligand-binding (1);	0.168271	0.39834	N	0.001250	D	0.85461	0.5702	L	0.54323	1.7	0.34320	D	0.686432	B	0.02656	0.0	B	0.01281	0.0	T	0.81684	-0.0821	10	0.35671	T	0.21	.	5.6288	0.17497	0.172:0.0:0.1794:0.6486	.	391	P20393	NR1D1_HUMAN	P	391	ENSP00000246672:T391P	ENSP00000246672:T391P	T	-	1	0	NR1D1	35505300	0.912000	0.30974	1.000000	0.80357	0.988000	0.76386	0.490000	0.22403	0.912000	0.36772	0.533000	0.62120	ACC	NR1D1	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000126368		0.652	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1	120	0.81	1	T			38251774	38251774	-1	no_errors	ENST00000246672	ensembl	human	known	69_37n	missense	135	16.56	27	SNP	0.996	G
NR1D1	9572	genome.wustl.edu	37	17	38253472	38253472	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:38253472T>G	ENST00000246672.3	-	2	846	c.216A>C	c.(214-216)ccA>ccC	p.P72P		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	72	Crucial for activation of GJA1. {ECO:0000250}.|Modulating.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					TCAGGCTGGGTGGAATGCTCC	0.607																																						dbGAP											0													75.0	76.0	76.0					17																	38253472		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.216A>C	17.37:g.38253472T>G			Q0P5Z4|Q15304	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,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.P72	ENST00000246672.3	37	c.216	CCDS11361.1	17																																																																																			NR1D1	-	NULL	ENSG00000126368		0.607	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1	250	0.00	0	T			38253472	38253472	-1	no_errors	ENST00000246672	ensembl	human	known	69_37n	silent	147	16.48	29	SNP	0.003	G
NR1D1	9572	genome.wustl.edu	37	17	38253500	38253500	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:38253500T>G	ENST00000246672.3	-	2	818	c.188A>C	c.(187-189)gAc>gCc	p.D63A		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	63	Crucial for activation of GJA1. {ECO:0000250}.|Modulating.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GCGAGCCGGGTCTTGGGTGAG	0.572																																						dbGAP											0													75.0	79.0	77.0					17																	38253500		2203	4300	6503	-	-	-	SO:0001583	missense	0			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.188A>C	17.37:g.38253500T>G	ENSP00000246672:p.Asp63Ala		Q0P5Z4|Q15304	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.D63A	ENST00000246672.3	37	c.188	CCDS11361.1	17	.	.	.	.	.	.	.	.	.	.	T	8.140	0.785016	0.16189	.	.	ENSG00000126368	ENST00000246672	D	0.90504	-2.68	4.96	4.96	0.65561	.	0.080049	0.49916	D	0.000128	T	0.77232	0.4100	N	0.08118	0	0.38791	D	0.954974	P	0.42692	0.787	B	0.33042	0.157	T	0.79495	-0.1780	10	0.19147	T	0.46	.	13.7431	0.62860	0.0:0.0:0.0:1.0	.	63	P20393	NR1D1_HUMAN	A	63	ENSP00000246672:D63A	ENSP00000246672:D63A	D	-	2	0	NR1D1	35507026	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	1.606000	0.36826	2.087000	0.62958	0.379000	0.24179	GAC	NR1D1	-	NULL	ENSG00000126368		0.572	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1	288	0.34	1	T			38253500	38253500	-1	no_errors	ENST00000246672	ensembl	human	known	69_37n	missense	176	16.11	34	SNP	1.000	G
NR4A1	3164	genome.wustl.edu	37	12	52448895	52448895	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:52448895T>G	ENST00000243050.1	+	3	1097	c.783T>G	c.(781-783)ggT>ggG	p.G261G	NR4A1_ENST00000394825.1_Silent_p.G261G|NR4A1_ENST00000550082.1_Silent_p.G274G|NR4A1_ENST00000360284.3_Silent_p.G274G|NR4A1_ENST00000545748.1_Silent_p.G315G|NR4A1_ENST00000394824.2_Silent_p.G261G|NR4A1_ENST00000548232.1_Silent_p.G261G	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	261					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGGCCCCAGGTGGAAGTGAAG	0.617																																						dbGAP											0													64.0	68.0	66.0					12																	52448895		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.783T>G	12.37:g.52448895T>G			B4DML7|Q15627|Q53Y00|Q6IBU8	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,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.G315	ENST00000243050.1	37	c.945	CCDS8818.1	12																																																																																			NR4A1	-	NULL	ENSG00000123358		0.617	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NR4A1	HGNC	protein_coding	OTTHUMT00000317922.2	61	0.00	0	T			52448895	52448895	+1	no_errors	ENST00000545748	ensembl	human	known	69_37n	silent	43	15.69	8	SNP	0.604	G
NRCAM	4897	genome.wustl.edu	37	7	107800919	107800919	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:107800919A>C	ENST00000425651.2	-	28	3484	c.3485T>G	c.(3484-3486)gTg>gGg	p.V1162G	NRCAM_ENST00000413765.2_Missense_Mutation_p.V1038G|NRCAM_ENST00000379028.3_Missense_Mutation_p.V1162G|NRCAM_ENST00000379024.4_Missense_Mutation_p.V1050G|NRCAM_ENST00000351718.4_Missense_Mutation_p.V1041G|NRCAM_ENST00000379022.4_Missense_Mutation_p.V1162G	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1162					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						TGCAATATCCACCTGCCGGCT	0.453																																						dbGAP											0													96.0	86.0	89.0					7																	107800919		2203	4299	6502	-	-	-	SO:0001583	missense	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.3485T>G	7.37:g.107800919A>C	ENSP00000401244:p.Val1162Gly		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	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.V1162G	ENST00000425651.2	37	c.3485	CCDS47686.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.40|14.40	2.523064|2.523064	0.44866|0.44866	.|.	.|.	ENSG00000091129|ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000437386;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022|ENST00000445634	T;T;T;T;T;T|.	0.58506|.	0.33;0.59;0.34;0.41;0.33;0.35|.	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	0.054986|.	0.64402|.	D|.	0.000001|.	T|T	0.59824|0.59824	0.2222|0.2222	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	D;B;P;D;D;B|.	0.65815|.	0.99;0.178;0.934;0.992;0.995;0.011|.	P;B;P;P;P;B|.	0.62649|.	0.905;0.097;0.854;0.805;0.904;0.008|.	T|T	0.56685|0.56685	-0.7938|-0.7938	10|5	0.22706|.	T|.	0.39|.	.|.	15.5185|15.5185	0.75846|0.75846	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1162;8;1038;1050;1041;1162|.	Q92823-5;B4DFP9;Q92823-3;E9PDA4;Q92823-4;Q92823|.	.;.;.;.;.;NRCAM_HUMAN|.	G|G	1162;1162;1038;1069;6;1041;1050;1162;1162|61	ENSP00000368314:V1162G;ENSP00000407858:V1038G;ENSP00000325269:V1041G;ENSP00000368310:V1050G;ENSP00000401244:V1162G;ENSP00000368308:V1162G|.	ENSP00000325269:V1041G|.	V|W	-|-	2|1	0|0	NRCAM|NRCAM	107588155|107588155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.501000|7.501000	0.81600|0.81600	2.070000|2.070000	0.61991|0.61991	0.533000|0.533000	0.62120|0.62120	GTG|TGG	NRCAM	-	NULL	ENSG00000091129		0.453	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	159	0.62	1	A	NM_001037132		107800919	107800919	-1	no_errors	ENST00000379028	ensembl	human	known	69_37n	missense	128	16.23	25	SNP	1.000	C
NRG2	9542	genome.wustl.edu	37	5	139232027	139232027	+	Missense_Mutation	SNP	A	A	G	rs199888928		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:139232027A>G	ENST00000361474.1	-	8	1758	c.1534T>C	c.(1534-1536)Tcc>Ccc	p.S512P	NRG2_ENST00000289422.7_Missense_Mutation_p.S520P|NRG2_ENST00000541337.1_Missense_Mutation_p.S446P|NRG2_ENST00000358522.3_Missense_Mutation_p.S514P|NRG2_ENST00000545385.1_Missense_Mutation_p.S514P|NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000289409.4_Missense_Mutation_p.S506P|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000340391.3_Missense_Mutation_p.S309P	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	512					embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGCTGGAGGTGGGTGTG	0.552																																						dbGAP											0													159.0	125.0	137.0					5																	139232027		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.1534T>C	5.37:g.139232027A>G	ENSP00000354910:p.Ser512Pro			Missense_Mutation	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like	p.S514P	ENST00000361474.1	37	c.1540	CCDS4217.1	5	.	.	.	.	.	.	.	.	.	.	A	17.01	3.279917	0.59758	.	.	ENSG00000158458	ENST00000541337;ENST00000289422;ENST00000361474;ENST00000446269;ENST00000545385;ENST00000340391;ENST00000289409;ENST00000358522	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.25	5.25	0.73442	Neuregulin 1-related, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.46870	0.1415	L	0.42581	1.335	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.33954	-0.9848	10	0.19590	T	0.45	-20.7951	9.6581	0.39939	0.9218:0.0:0.0782:0.0	.	506;512;514;520	O14511-2;O14511;O14511-4;O14511-3	.;NRG2_HUMAN;.;.	P	446;520;512;520;514;309;506;514	ENSP00000444235:S446P;ENSP00000289422:S520P;ENSP00000354910:S512P;ENSP00000438753:S514P;ENSP00000342660:S309P;ENSP00000289409:S506P;ENSP00000351323:S514P	ENSP00000289409:S506P	S	-	1	0	NRG2	139212211	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.873000	0.69644	1.989000	0.58080	0.383000	0.25322	TCC	NRG2	-	pfam_Neuregulin_1_C	ENSG00000158458		0.552	NRG2-001	KNOWN	basic|CCDS	protein_coding	NRG2	HGNC	protein_coding	OTTHUMT00000251340.1	395	0.75	3	A	NM_013982		139232027	139232027	-1	no_errors	ENST00000545385	ensembl	human	known	69_37n	missense	317	16.67	64	SNP	1.000	G
NSUN5	55695	genome.wustl.edu	37	7	72717683	72717683	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:72717683A>C	ENST00000252594.6	-	9	1215	c.1200T>G	c.(1198-1200)ggT>ggG	p.G400G	NSUN5_ENST00000310326.8_Silent_p.G400G|NSUN5_ENST00000428206.1_Silent_p.G362G|NSUN5_ENST00000438747.2_Silent_p.G400G			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	400					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)				AGTGCTCGGCACCCGGGAACG	0.647																																						dbGAP											0													51.0	50.0	51.0					7																	72717683		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.1200T>G	7.37:g.72717683A>C			B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.G400	ENST00000252594.6	37	c.1200	CCDS5547.1	7																																																																																			NSUN5	-	pfam_Fmu/NOL1/Nop2p	ENSG00000130305		0.647	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NSUN5	HGNC	protein_coding	OTTHUMT00000252113.1	118	0.00	0	A	NM_148956		72717683	72717683	-1	no_errors	ENST00000438747	ensembl	human	known	69_37n	silent	88	16.19	17	SNP	0.001	C
NUBPL	80224	genome.wustl.edu	37	14	32030678	32030678	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:32030678T>G	ENST00000281081.7	+	1	78	c.33T>G	c.(31-33)ggT>ggG	p.G11G	CTD-2213F21.4_ENST00000547093.1_RNA|CTD-2213F21.3_ENST00000548096.1_RNA	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	11					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrion morphogenesis (GO:0070584)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		TGCTTTTTGGTGGGGTGTCGC	0.687																																						dbGAP											0													27.0	30.0	29.0					14																	32030678		1901	4115	6016	-	-	-	SO:0001819	synonymous_variant	0			AK022722	CCDS41940.1	14q12	2012-10-12	2005-01-07	2005-01-07	ENSG00000151413	ENSG00000151413		"""Mitochondrial respiratory chain complex assembly factors"""	20278	protein-coding gene	gene with protein product	"""iron-sulfur protein required for NADH dehydrogenase"""	613621	"""chromosome 14 open reading frame 127"""	C14orf127			Standard	NM_025152		Approved	FLJ12660, IND1, huInd1	uc001wrk.4	Q8TB37	OTTHUMG00000170521	ENST00000281081.7:c.33T>G	14.37:g.32030678T>G			B4DHZ1|Q86TZ4|Q9H9M2	Silent	SNP	pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1	p.G11	ENST00000281081.7	37	c.33	CCDS41940.1	14																																																																																			NUBPL	-	NULL	ENSG00000151413		0.687	NUBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUBPL	HGNC	protein_coding	OTTHUMT00000409519.1	68	0.00	0	T	NM_025152		32030678	32030678	+1	no_errors	ENST00000281081	ensembl	human	known	69_37n	silent	54	19.40	13	SNP	0.002	G
NUDT13	25961	genome.wustl.edu	37	10	74886476	74886476	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:74886476T>G	ENST00000357321.4	+	8	867	c.749T>G	c.(748-750)gTg>gGg	p.V250G	NUDT13_ENST00000537969.1_Missense_Mutation_p.V53G|RP11-152N13.16_ENST00000608444.1_RNA|NUDT13_ENST00000544879.1_Missense_Mutation_p.V124G|NUDT13_ENST00000372997.3_Missense_Mutation_p.W213G|SNORA11_ENST00000408237.1_RNA|NUDT13_ENST00000349051.5_Intron|NUDT13_ENST00000488223.1_3'UTR	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3			nudix (nucleoside diphosphate linked moiety X)-type motif 13											large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					GCAGAAGAGGTGGGATTGGAG	0.517																																						dbGAP											0													261.0	204.0	223.0					10																	74886476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050114	CCDS31220.1, CCDS60551.1, CCDS60552.1, CCDS60553.1, CCDS73148.1	10q22.3	2014-04-24			ENSG00000166321	ENSG00000166321		"""Nudix motif containing"""	18827	protein-coding gene	gene with protein product		609233				15164054	Standard	NM_001283019		Approved	DKFZp586P2219	uc001jtj.3	Q86X67	OTTHUMG00000018453	ENST00000357321.4:c.749T>G	10.37:g.74886476T>G	ENSP00000349874:p.Val250Gly			Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,pfam_NADH_PPase-like_N,pfam_Znr_NADH_PPase,superfamily_NUDIX_hydrolase_dom-like	p.V250G	ENST00000357321.4	37	c.749	CCDS31220.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.84|18.84	3.708319|3.708319	0.68615|0.68615	.|.	.|.	ENSG00000166321|ENSG00000166321	ENST00000357321;ENST00000544879;ENST00000537969|ENST00000372997	T;T;T|T	0.47869|0.31510	0.83;0.83;0.83|1.49	6.08|6.08	6.08|6.08	0.98989|0.98989	NUDIX hydrolase domain (3);NUDIX hydrolase, conserved site (1);NUDIX hydrolase domain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69106|0.69106	0.3074|0.3074	H|H	0.96547|0.96547	3.84|3.84	0.80722|0.80722	D|D	1|1	D|D	0.89917|0.89917	1.0|1.0	D|D	0.91635|0.74023	0.999|0.982	T|T	0.79974|0.79974	-0.1577|-0.1577	10|8	0.72032|.	D|.	0.01|.	.|.	16.643|16.643	0.85134|0.85134	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	250|213	Q86X67|Q5SQM6	NUD13_HUMAN|.	G|G	250;124;53|213	ENSP00000349874:V250G;ENSP00000440760:V124G;ENSP00000438223:V53G|ENSP00000362088:W213G	ENSP00000349874:V250G|.	V|W	+|+	2|1	0|0	NUDT13|NUDT13	74556482|74556482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.567000|7.567000	0.82357|0.82357	2.330000|2.330000	0.79161|0.79161	0.533000|0.533000	0.62120|0.62120	GTG|TGG	NUDT13	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	ENSG00000166321		0.517	NUDT13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT13	HGNC	protein_coding	OTTHUMT00000048614.1	173	0.00	0	T	NM_015901		74886476	74886476	+1	no_errors	ENST00000357321	ensembl	human	known	69_37n	missense	148	12.35	21	SNP	1.000	G
NXF1	10482	genome.wustl.edu	37	11	62572818	62572818	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:62572818T>C	ENST00000532297.1	-	2	640	c.11A>G	c.(10-12)gAg>gGg	p.E4G	NXF1_ENST00000294172.2_Missense_Mutation_p.E4G|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000531709.2_Missense_Mutation_p.E4G|RP11-727F15.13_ENST00000596971.1_RNA|NXF1_ENST00000439713.2_Missense_Mutation_p.E4G			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	4	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						CGACTTCCCCTCGTCCGCCAT	0.682																																						dbGAP											0													51.0	43.0	46.0					11																	62572818		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.11A>G	11.37:g.62572818T>C	ENSP00000436679:p.Glu4Gly		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.E4G	ENST00000532297.1	37	c.11	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588339	0.28357	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.50277	0.9;0.9;0.75;0.91	4.33	3.14	0.36123	.	1.752510	0.02933	N	0.139427	T	0.26557	0.0649	N	0.03608	-0.345	0.32663	N	0.51785	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.0;0.002;0.0	T	0.33266	-0.9875	10	0.26408	T	0.33	-14.9792	5.8786	0.18842	0.0:0.1369:0.0:0.8631	.	4;17;4	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	G	4	ENSP00000294172:E4G;ENSP00000436679:E4G;ENSP00000435742:E4G;ENSP00000408864:E4G	ENSP00000294172:E4G	E	-	2	0	NXF1	62329394	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	1.801000	0.38843	0.755000	0.32990	0.254000	0.18369	GAG	NXF1	-	NULL	ENSG00000162231		0.682	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	40	0.00	0	T	NM_006362		62572818	62572818	-1	no_errors	ENST00000294172	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	1.000	C
OAS3	4940	genome.wustl.edu	37	12	113405882	113405882	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:113405882A>C	ENST00000228928.7	+	14	3186	c.3007A>C	c.(3007-3009)Acc>Ccc	p.T1003P	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	1003	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						GGAGCTGGTCACCCAGTACCG	0.577																																						dbGAP											0													57.0	60.0	59.0					12																	113405882		1976	4157	6133	-	-	-	SO:0001583	missense	0			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.3007A>C	12.37:g.113405882A>C	ENSP00000228928:p.Thr1003Pro		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.T1003P	ENST00000228928.7	37	c.3007	CCDS44981.1	12	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172453	0.38315	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.45668	0.89	4.88	-2.57	0.06248	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.797347	0.10174	U	0.706725	T	0.28995	0.0720	L	0.45352	1.415	0.22435	N	0.999107	P	0.39157	0.662	B	0.39617	0.305	T	0.19192	-1.0313	10	0.37606	T	0.19	.	3.2056	0.06665	0.2826:0.4816:0.093:0.1428	.	1003	Q9Y6K5	OAS3_HUMAN	P	1003;1002	ENSP00000228928:T1003P	ENSP00000228928:T1003P	T	+	1	0	OAS3	111890265	0.001000	0.12720	0.026000	0.17262	0.741000	0.42261	-0.383000	0.07398	-0.245000	0.09625	0.533000	0.62120	ACC	OAS3	-	pfam_2-5-oligoAdlate_synth_1_dom2/C	ENSG00000111331		0.577	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	90	0.00	0	A			113405882	113405882	+1	no_errors	ENST00000228928	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	0.001	C
OBSCN	84033	genome.wustl.edu	37	1	228432150	228432150	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:228432150T>G	ENST00000422127.1	+	11	3403	c.3359T>G	c.(3358-3360)gTg>gGg	p.V1120G	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.V1212G|OBSCN_ENST00000284548.11_Missense_Mutation_p.V1120G	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1120	Ig-like 11.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCAAAAGTGGGCATGGAG	0.637																																						dbGAP											0													88.0	91.0	90.0					1																	228432150		2081	4203	6284	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3359T>G	1.37:g.228432150T>G	ENSP00000409493:p.Val1120Gly		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.V1120G	ENST00000422127.1	37	c.3359	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	8.362	0.833306	0.16820	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.69175	-0.38;-0.38	3.48	3.48	0.39840	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.225379	0.28914	N	0.013734	T	0.79435	0.4445	M	0.82630	2.6	0.80722	D	1	D;D	0.67145	0.99;0.996	D;P	0.67103	0.949;0.86	T	0.78432	-0.2206	10	0.26408	T	0.33	.	12.1635	0.54117	0.0:0.0:0.0:1.0	.	1120;1120	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	G	1120	ENSP00000284548:V1120G;ENSP00000409493:V1120G	ENSP00000284548:V1120G	V	+	2	0	OBSCN	226498773	0.814000	0.29104	0.029000	0.17559	0.005000	0.04900	5.310000	0.65780	1.443000	0.47586	0.374000	0.22700	GTG	OBSCN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154358		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		190	0.52	1	T	NM_052843		228432150	228432150	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	271	11.36	35	SNP	0.221	G
OBSL1	23363	genome.wustl.edu	37	2	220427360	220427360	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:220427360A>C	ENST00000404537.1	-	8	2773	c.2717T>G	c.(2716-2718)gTg>gGg	p.V906G	OBSL1_ENST00000373876.1_Missense_Mutation_p.V906G|OBSL1_ENST00000289656.3_Missense_Mutation_p.V493G|OBSL1_ENST00000603926.1_Missense_Mutation_p.V906G|OBSL1_ENST00000373873.4_Missense_Mutation_p.V906G|OBSL1_ENST00000265318.4_Missense_Mutation_p.V906G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	906	Ig-like 7.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGCCACATACACCTTGCCGCT	0.667																																						dbGAP											0													26.0	32.0	30.0					2																	220427360		2195	4282	6477	-	-	-	SO:0001583	missense	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2717T>G	2.37:g.220427360A>C	ENSP00000385636:p.Val906Gly		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V906G	ENST00000404537.1	37	c.2717	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050306	0.55218	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.59364	0.43;0.35;0.34;0.27;0.74	4.62	4.62	0.57501	Immunoglobulin-like (1);	.	.	.	.	T	0.69314	0.3097	M	0.64997	1.995	0.80722	D	1	D;D;D;P	0.76494	0.999;0.993;0.985;0.739	D;D;P;P	0.71414	0.973;0.929;0.535;0.461	T	0.66384	-0.5937	9	0.23302	T	0.38	.	12.5791	0.56380	1.0:0.0:0.0:0.0	.	907;906;493;906	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	G	906;906;906;906;493	ENSP00000265318:V906G;ENSP00000385636:V906G;ENSP00000362983:V906G;ENSP00000362980:V906G;ENSP00000289656:V493G	ENSP00000265318:V906G	V	-	2	0	OBSL1	220135604	0.852000	0.29690	0.986000	0.45419	0.957000	0.61999	3.777000	0.55364	1.860000	0.53959	0.482000	0.46254	GTG	OBSL1	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000124006		0.667	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	45	0.00	0	A			220427360	220427360	-1	no_errors	ENST00000404537	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	0.989	C
TENM4	26011	genome.wustl.edu	37	11	78380178	78380178	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:78380178A>C	ENST00000278550.7	-	32	7674	c.7212T>G	c.(7210-7212)ggT>ggG	p.G2404G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2404					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)										CATAGAGGCCACCATGGTAGC	0.527																																						dbGAP											0													59.0	59.0	59.0					11																	78380178		1962	4161	6123	-	-	-	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.7212T>G	11.37:g.78380178A>C			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.G2404	ENST00000278550.7	37	c.7212	CCDS44688.1	11																																																																																			ODZ4	-	tigrfam_Rhs_assc_core	ENSG00000149256		0.527	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	157	0.00	0	A			78380178	78380178	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	silent	113	12.40	16	SNP	0.024	C
TENM4	26011	genome.wustl.edu	37	11	78399221	78399221	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:78399221A>C	ENST00000278550.7	-	29	5600	c.5138T>G	c.(5137-5139)gTg>gGg	p.V1713G		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1713					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GAAACTGCTCACCTGGCCAGT	0.517																																						dbGAP											0													203.0	205.0	204.0					11																	78399221		2072	4204	6276	-	-	-	SO:0001583	missense	0			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.5138T>G	11.37:g.78399221A>C	ENSP00000278550:p.Val1713Gly		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V1713G	ENST00000278550.7	37	c.5138	CCDS44688.1	11	.	.	.	.	.	.	.	.	.	.	A	26.2	4.714243	0.89112	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.90900	-2.75;0.75	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.94604	0.8261	M	0.74389	2.26	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.94519	0.7725	9	.	.	.	.	14.8236	0.70091	1.0:0.0:0.0:0.0	.	1713	Q6N022	TEN4_HUMAN	G	1713;177	ENSP00000278550:V1713G;ENSP00000431711:V177G	.	V	-	2	0	ODZ4	78076869	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.067000	0.93955	2.081000	0.62600	0.533000	0.62120	GTG	ODZ4	-	tigrfam_YD	ENSG00000149256		0.517	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ4	HGNC	protein_coding	OTTHUMT00000391406.2	169	0.00	0	A			78399221	78399221	-1	no_errors	ENST00000278550	ensembl	human	known	69_37n	missense	116	19.44	28	SNP	1.000	C
OFD1	8481	genome.wustl.edu	37	X	13778450	13778450	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:13778450A>C	ENST00000340096.6	+	16	2198	c.1871A>C	c.(1870-1872)gAc>gCc	p.D624A	OFD1_ENST00000380567.1_Missense_Mutation_p.D484A|OFD1_ENST00000380550.3_Missense_Mutation_p.D584A|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	624	Mediates homooligomerization.|Mediates the interaction with SDCCAG8.				axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CCTGATTCTGACCTTGAGTTT	0.448																																						dbGAP											0													116.0	93.0	101.0					X																	13778450		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1871A>C	X.37:g.13778450A>C	ENSP00000344314:p.Asp624Ala		B9ZVU5|O75666|Q4VAK4	Missense_Mutation	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.D624A	ENST00000340096.6	37	c.1871	CCDS14157.1	X	.	.	.	.	.	.	.	.	.	.	.	19.17	3.775539	0.70107	.	.	ENSG00000046651	ENST00000380550;ENST00000340096;ENST00000380567	D;D;D	0.97976	-4.64;-4.56;-2.4	5.77	5.77	0.91146	.	0.102918	0.64402	D	0.000006	D	0.97779	0.9271	M	0.64404	1.975	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.989;0.989;0.998	P;P;P;P;P	0.60886	0.878;0.878;0.88;0.817;0.878	D	0.97360	0.9969	10	0.17369	T	0.5	-17.7878	15.125	0.72475	1.0:0.0:0.0:0.0	.	624;584;292;484;624	A8K2T9;O75665-3;B4DLQ3;A6NF31;O75665	.;.;.;.;OFD1_HUMAN	A	584;624;484	ENSP00000369923:D584A;ENSP00000344314:D624A;ENSP00000369941:D484A	ENSP00000344314:D624A	D	+	2	0	OFD1	13688371	1.000000	0.71417	0.167000	0.22817	0.698000	0.40448	7.758000	0.85224	1.955000	0.56771	0.430000	0.28490	GAC	OFD1	-	NULL	ENSG00000046651		0.448	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	150	0.66	1	A	NM_003611		13778450	13778450	+1	no_errors	ENST00000340096	ensembl	human	known	69_37n	missense	97	19.83	24	SNP	0.998	C
OGDH	4967	genome.wustl.edu	37	7	44733574	44733574	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:44733574A>C	ENST00000222673.5	+	11	1528	c.1486A>C	c.(1486-1488)Acc>Ccc	p.T496P	OGDH_ENST00000439616.2_Missense_Mutation_p.T346P|OGDH_ENST00000444676.1_Missense_Mutation_p.T511P|OGDH_ENST00000543843.1_Missense_Mutation_p.T447P|OGDH_ENST00000449767.1_Missense_Mutation_p.T492P|OGDH_ENST00000447398.1_Missense_Mutation_p.T507P	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	496					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GTGGAGGAGCACCTTCCACAA	0.607																																						dbGAP											0													123.0	94.0	104.0					7																	44733574		2203	4300	6503	-	-	-	SO:0001583	missense	0			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.1486A>C	7.37:g.44733574A>C	ENSP00000222673:p.Thr496Pro		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.T496P	ENST00000222673.5	37	c.1486	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	A	28.6	4.930035	0.92389	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	D;D;D;D;D;D	0.96073	-3.9;-3.9;-3.9;-3.9;-3.9;-3.9	5.69	5.69	0.88448	Dehydrogenase, E1 component (1);	0.041350	0.85682	N	0.000000	D	0.98121	0.9380	M	0.92691	3.335	0.80722	D	1	D;D;D;D;P;D	0.63046	0.979;0.992;0.984;0.984;0.956;0.984	P;D;D;D;P;D	0.69142	0.864;0.917;0.962;0.962;0.864;0.936	D	0.98908	1.0779	10	0.59425	D	0.04	-45.4911	15.6261	0.76859	1.0:0.0:0.0:0.0	.	291;346;492;507;398;496	B4E3E9;E9PFG7;E9PBM1;E9PDF2;A2VCT2;Q02218	.;.;.;.;.;ODO1_HUMAN	P	346;492;507;511;496;447	ENSP00000398576:T346P;ENSP00000392878:T492P;ENSP00000388183:T507P;ENSP00000414662:T511P;ENSP00000222673:T496P;ENSP00000443821:T447P	ENSP00000222673:T496P	T	+	1	0	OGDH	44700099	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.173000	0.68751	0.533000	0.62120	ACC	OGDH	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000105953		0.607	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	206	0.48	1	A			44733574	44733574	+1	no_errors	ENST00000222673	ensembl	human	known	69_37n	missense	77	14.44	13	SNP	1.000	C
OPA1	4976	genome.wustl.edu	37	3	193343892	193343892	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:193343892T>G	ENST00000392438.3	+	6	858				OPA1_ENST00000361150.2_Silent_p.G176G|Y_RNA_ENST00000384640.1_RNA|OPA1-AS1_ENST00000433105.1_RNA|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000487986.1_Intron|OPA1_ENST00000361828.2_Intron|OPA1_ENST00000361908.3_Silent_p.G212G|OPA1_ENST00000361715.2_Silent_p.G194G|OPA1_ENST00000361510.2_Silent_p.G230G	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTCTGCTTGGTGAGCTCATTC	0.483																																						dbGAP											0													72.0	73.0	73.0					3																	193343892		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.625-5509T>G	3.37:g.193343892T>G			D3DNW4	Silent	SNP	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	p.G230	ENST00000392438.3	37	c.690	CCDS43186.1	3																																																																																			OPA1	-	NULL	ENSG00000198836		0.483	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	64	0.00	0	T	NM_130837		193343892	193343892	+1	no_errors	ENST00000361510	ensembl	human	known	69_37n	silent	83	15.31	15	SNP	1.000	G
OPN1MW2	728458	genome.wustl.edu	37	X	153496171	153496171	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:153496171A>C	ENST00000369929.4	+	5	959	c.899A>C	c.(898-900)cAc>cCc	p.H300P		NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	300					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACCCCTTCCACCCTTTGATG	0.557																																						dbGAP											0													144.0	105.0	119.0					X																	153496171		2104	3798	5902	-	-	-	SO:0001583	missense	0				CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"""GPCR / Class A : Opsin receptors"""	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.899A>C	X.37:g.153496171A>C	ENSP00000358945:p.His300Pro			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_red/grn,prints_7TM_GPCR_Rhodpsn,prints_Opsin	p.H300P	ENST00000369929.4	37	c.899	CCDS35447.1	X	.	.	.	.	.	.	.	.	.	.	A	15.83	2.947704	0.53186	.	.	ENSG00000166160	ENST00000369929	T	0.34472	1.36	2.81	2.81	0.32909	.	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.39583	-0.9607	7	0.52906	T	0.07	.	9.4523	0.38734	1.0:0.0:0.0:0.0	.	.	.	.	P	300	ENSP00000358945:H300P	ENSP00000358945:H300P	H	+	2	0	OPN1MW2	153149365	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.937000	0.70162	1.028000	0.39785	0.331000	0.21540	CAC	OPN1MW2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_red/grn	ENSG00000166160		0.557	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN1MW2	HGNC	protein_coding	OTTHUMT00000061149.2	210	0.47	1	A	NM_001048181		153496171	153496171	+1	no_errors	ENST00000369929	ensembl	human	known	69_37n	missense	273	19.06	65	SNP	1.000	C
OPTC	26254	genome.wustl.edu	37	1	203472130	203472130	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:203472130A>C	ENST00000367222.2	+	6	937	c.821A>C	c.(820-822)cAc>cCc	p.H274P		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	274					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CGCTCTGTACACCTGCAGGTA	0.562																																						dbGAP											0													48.0	50.0	49.0					1																	203472130		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.821A>C	1.37:g.203472130A>C	ENSP00000356191:p.His274Pro		Q5T2G4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.H274P	ENST00000367222.2	37	c.821	CCDS1439.1	1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110954	0.56398	.	.	ENSG00000188770	ENST00000367222	T	0.02472	4.28	3.98	3.98	0.46160	.	0.066981	0.64402	D	0.000018	T	0.15696	0.0378	M	0.86864	2.845	0.53688	D	0.999979	D	0.76494	0.999	D	0.77004	0.989	T	0.00316	-1.1823	10	0.87932	D	0	-24.4685	10.6331	0.45549	1.0:0.0:0.0:0.0	.	274	Q9UBM4	OPT_HUMAN	P	274	ENSP00000356191:H274P	ENSP00000356191:H274P	H	+	2	0	OPTC	201738753	1.000000	0.71417	0.924000	0.36721	0.546000	0.35178	7.683000	0.84093	1.800000	0.52685	0.421000	0.28195	CAC	OPTC	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000188770		0.562	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPTC	HGNC	protein_coding	OTTHUMT00000087964.1	99	1.00	1	A	NM_014359		203472130	203472130	+1	no_errors	ENST00000367222	ensembl	human	known	69_37n	missense	145	13.17	22	SNP	1.000	C
OR10H2	26538	genome.wustl.edu	37	19	15838918	15838918	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:15838918A>C	ENST00000305899.3	+	1	85	c.65A>C	c.(64-66)cAc>cCc	p.H22P		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCCTTCCCCCACCTCCAACTG	0.582																																						dbGAP											0													278.0	240.0	253.0					19																	15838918		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.65A>C	19.37:g.15838918A>C	ENSP00000306095:p.His22Pro		Q6IFQ1|Q96R58	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H22P	ENST00000305899.3	37	c.65	CCDS12333.1	19	.	.	.	.	.	.	.	.	.	.	.	1.107	-0.659376	0.03454	.	.	ENSG00000171942	ENST00000305899	T	0.01076	5.37	2.74	1.69	0.24217	.	1.232700	0.05875	N	0.625381	T	0.01387	0.0045	L	0.39085	1.19	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48658	-0.9016	10	0.66056	D	0.02	.	4.4976	0.11844	0.6882:0.0:0.3118:0.0	.	22	O60403	O10H2_HUMAN	P	22	ENSP00000306095:H22P	ENSP00000306095:H22P	H	+	2	0	OR10H2	15699918	0.016000	0.18221	0.004000	0.12327	0.111000	0.19643	0.901000	0.28445	0.188000	0.20168	0.352000	0.21897	CAC	OR10H2	-	NULL	ENSG00000171942		0.582	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H2	HGNC	protein_coding	OTTHUMT00000460917.1	254	0.78	2	A			15838918	15838918	+1	no_errors	ENST00000305899	ensembl	human	known	69_37n	missense	326	13.03	49	SNP	0.000	C
OR10K2	391107	genome.wustl.edu	37	1	158390163	158390163	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:158390163T>G	ENST00000314902.2	-	1	493	c.494A>C	c.(493-495)cAc>cCc	p.H165P		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	165						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)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AAAAGGCAGGTGAAATACCAA	0.473																																						dbGAP											0													164.0	149.0	154.0					1																	158390163		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.494A>C	1.37:g.158390163T>G	ENSP00000324251:p.His165Pro			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H165P	ENST00000314902.2	37	c.494	CCDS30896.1	1	.	.	.	.	.	.	.	.	.	.	T	6.016	0.371383	0.11409	.	.	ENSG00000180708	ENST00000314902	T	0.00036	8.86	4.06	-2.53	0.06326	GPCR, rhodopsin-like superfamily (1);	0.755390	0.11687	N	0.539310	T	0.00073	0.0002	L	0.45581	1.43	0.09310	N	1	P	0.49783	0.928	P	0.47044	0.535	T	0.16305	-1.0407	10	0.62326	D	0.03	.	11.003	0.47618	0.0:0.5294:0.0:0.4706	.	165	Q6IF99	O10K2_HUMAN	P	165	ENSP00000324251:H165P	ENSP00000324251:H165P	H	-	2	0	OR10K2	156656787	0.000000	0.05858	0.006000	0.13384	0.009000	0.06853	-1.105000	0.03323	-0.612000	0.05701	-0.467000	0.05162	CAC	OR10K2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180708		0.473	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K2	HGNC	protein_coding	OTTHUMT00000051854.1	232	0.00	0	T	NM_001004476		158390163	158390163	-1	no_errors	ENST00000314902	ensembl	human	known	69_37n	missense	339	10.94	42	SNP	0.002	G
OR10Q1	219960	genome.wustl.edu	37	11	57995521	57995521	+	Missense_Mutation	SNP	T	T	G	rs555187440	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:57995521T>G	ENST00000316770.2	-	1	869	c.827A>C	c.(826-828)gAc>gCc	p.D276A		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GATTTGGCTGTCCTCATCCTC	0.562													T|||	369	0.0736821	0.0242	0.0576	5008	,	,		20129	0.1845		0.1024	False		,,,				2504	0.0082					dbGAP											0													115.0	102.0	107.0					11																	57995521		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.827A>C	11.37:g.57995521T>G	ENSP00000314324:p.Asp276Ala		Q6IFG4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D276A	ENST00000316770.2	37	c.827	CCDS31547.1	11	.	.	.	.	.	.	.	.	.	.	T	12.02	1.812154	0.32053	.	.	ENSG00000180475	ENST00000316770	T	0.00224	8.51	5.07	3.94	0.45596	GPCR, rhodopsin-like superfamily (1);	0.314541	0.22464	N	0.059717	T	0.00468	0.0015	M	0.81239	2.535	0.23043	N	0.998388	D	0.55385	0.971	P	0.60415	0.874	T	0.36407	-0.9749	10	0.72032	D	0.01	.	9.9935	0.41885	0.0:0.08:0.0:0.92	.	276	Q8NGQ4	O10Q1_HUMAN	A	276	ENSP00000314324:D276A	ENSP00000314324:D276A	D	-	2	0	OR10Q1	57752097	0.000000	0.05858	0.943000	0.38184	0.152000	0.21847	-0.339000	0.07832	0.956000	0.37904	-0.274000	0.10170	GAC	OR10Q1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000180475		0.562	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10Q1	HGNC	protein_coding	OTTHUMT00000394706.1	142	0.70	1	T	NM_001004471		57995521	57995521	-1	no_errors	ENST00000316770	ensembl	human	known	69_37n	missense	53	29.33	22	SNP	0.658	G
OR13J1	392309	genome.wustl.edu	37	9	35870173	35870173	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:35870173T>G	ENST00000377981.2	-	1	288	c.226A>C	c.(226-228)Acc>Ccc	p.T76P		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GGCACAAAGGTGGGCGTGTAG	0.582																																						dbGAP											0													125.0	115.0	119.0					9																	35870173		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.226A>C	9.37:g.35870173T>G	ENSP00000367219:p.Thr76Pro		B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T76P	ENST00000377981.2	37	c.226	CCDS35011.1	9	.	.	.	.	.	.	.	.	.	.	T	14.87	2.663114	0.47572	.	.	ENSG00000168828	ENST00000377981	T	0.01359	4.98	4.78	-2.21	0.06973	GPCR, rhodopsin-like superfamily (1);	0.111433	0.40144	N	0.001179	T	0.04861	0.0131	M	0.92077	3.27	0.09310	N	0.99999	D	0.60160	0.987	P	0.52514	0.701	T	0.10314	-1.0635	10	0.87932	D	0	.	4.8504	0.13535	0.5875:0.1667:0.0:0.2457	.	76	Q8NGT2	O13J1_HUMAN	P	76	ENSP00000367219:T76P	ENSP00000367219:T76P	T	-	1	0	OR13J1	35860173	0.000000	0.05858	0.711000	0.30485	0.903000	0.53119	-2.547000	0.00931	-0.354000	0.08212	0.528000	0.53228	ACC	OR13J1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000168828		0.582	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13J1	HGNC	protein_coding	OTTHUMT00000052381.1	180	0.54	1	T			35870173	35870173	-1	no_errors	ENST00000377981	ensembl	human	known	69_37n	missense	101	16.39	20	SNP	0.023	G
OR2W3	343171	genome.wustl.edu	37	1	248059346	248059346	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:248059346T>G	ENST00000360358.3	+	1	458	c.458T>G	c.(457-459)gTg>gGg	p.V153G	OR2W3_ENST00000537741.1_Missense_Mutation_p.V153G	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	153						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(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTGTGGGGTGGCCAACTCC	0.632																																						dbGAP											0													87.0	64.0	72.0					1																	248059346		2203	4300	6503	-	-	-	SO:0001583	missense	0			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.458T>G	1.37:g.248059346T>G	ENSP00000353516:p.Val153Gly		Q6IF06|Q8NG86	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V153G	ENST00000360358.3	37	c.458	CCDS31099.1	1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.978200	0.53720	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00183	8.6;8.6	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.809610	0.10993	N	0.611419	T	0.00210	0.0006	N	0.25286	0.73	0.20926	N	0.999822	P	0.38565	0.637	P	0.45138	0.471	T	0.59484	-0.7446	10	0.87932	D	0	.	9.5442	0.39271	0.0:0.0787:0.0:0.9213	.	153	Q7Z3T1	OR2W3_HUMAN	G	153	ENSP00000445853:V153G;ENSP00000353516:V153G	ENSP00000353516:V153G	V	+	2	0	OR2W3	246125969	0.002000	0.14202	0.922000	0.36590	0.864000	0.49448	1.251000	0.32862	2.224000	0.72417	0.491000	0.48974	GTG	OR2W3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000238243		0.632	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W3	HGNC	protein_coding	OTTHUMT00000096861.1	108	0.00	0	T	NM_001001957		248059346	248059346	+1	no_errors	ENST00000360358	ensembl	human	known	69_37n	missense	97	17.09	20	SNP	0.095	G
OR2T33	391195	genome.wustl.edu	37	1	248436380	248436380	+	Missense_Mutation	SNP	A	A	C	rs535345080	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:248436380A>C	ENST00000318021.2	-	1	758	c.737T>G	c.(736-738)gTg>gGg	p.V246G		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AAAGAGTCCCACCACAGCCAC	0.498													a|||	22	0.00439297	0.0053	0.0058	5008	,	,		21255	0.004		0.007	False		,,,				2504	0.0					dbGAP											0													41.0	52.0	48.0					1																	248436380		2203	4296	6499	-	-	-	SO:0001583	missense	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.737T>G	1.37:g.248436380A>C	ENSP00000324687:p.Val246Gly		B2RNN0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V246G	ENST00000318021.2	37	c.737	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	14.30	2.495590	0.44352	.	.	ENSG00000177212	ENST00000318021	T	0.00366	7.79	1.77	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32068	U	0.006622	T	0.01835	0.0058	H	0.99368	4.535	0.51767	D	0.999932	D	0.76494	0.999	D	0.79784	0.993	T	0.09596	-1.0667	10	0.87932	D	0	.	9.6523	0.39906	1.0:0.0:0.0:0.0	.	246	Q8NG76	O2T33_HUMAN	G	246	ENSP00000324687:V246G	ENSP00000324687:V246G	V	-	2	0	OR2T33	246503003	0.151000	0.22747	0.905000	0.35620	0.985000	0.73830	3.688000	0.54699	1.057000	0.40506	0.342000	0.21767	GTG	OR2T33	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000177212		0.498	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	196	0.00	0	A	NM_001004695		248436380	248436380	-1	no_errors	ENST00000318021	ensembl	human	known	69_37n	missense	217	20.15	55	SNP	0.874	C
OR2Z1	284383	genome.wustl.edu	37	19	8841877	8841877	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:8841877A>C	ENST00000324060.2	+	1	562	c.487A>C	c.(487-489)Acc>Ccc	p.T163P		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACCTCCATCACCCTGCATTT	0.547																																						dbGAP											0													192.0	175.0	181.0					19																	8841877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.487A>C	19.37:g.8841877A>C	ENSP00000316284:p.Thr163Pro		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T163P	ENST00000324060.2	37	c.487	CCDS32895.1	19	.	.	.	.	.	.	.	.	.	.	A	13.96	2.391572	0.42410	.	.	ENSG00000181733	ENST00000324060	T	0.00269	8.37	4.67	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.00328	0.0010	M	0.87097	2.86	0.19300	N	0.999973	B	0.17038	0.02	B	0.25405	0.06	T	0.27536	-1.0071	10	0.62326	D	0.03	.	12.5267	0.56089	1.0:0.0:0.0:0.0	.	163	Q8NG97	OR2Z1_HUMAN	P	163	ENSP00000316284:T163P	ENSP00000316284:T163P	T	+	1	0	OR2Z1	8702877	0.000000	0.05858	0.989000	0.46669	0.503000	0.33858	0.731000	0.26058	1.910000	0.55303	0.444000	0.29173	ACC	OR2Z1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000181733		0.547	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Z1	HGNC	protein_coding	OTTHUMT00000459954.1	190	0.00	0	A			8841877	8841877	+1	no_errors	ENST00000324060	ensembl	human	known	69_37n	missense	201	12.12	28	SNP	0.466	C
OR52B4	143496	genome.wustl.edu	37	11	4388713	4388713	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:4388713T>G	ENST00000408920.2	-	1	903	c.813A>C	c.(811-813)ccA>ccC	p.P271P		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	271					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATACAAGGTGGAATGTGGC	0.468																																						dbGAP											0													118.0	127.0	124.0					11																	4388713		2050	4185	6235	-	-	-	SO:0001819	synonymous_variant	0			AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.813A>C	11.37:g.4388713T>G			A6NP68|Q6IFK6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P271	ENST00000408920.2	37	c.813	CCDS41609.1	11																																																																																			OR52B4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000221996		0.468	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B4	HGNC	protein_coding	OTTHUMT00000334449.3	180	0.55	1	T	NM_001005161		4388713	4388713	-1	no_errors	ENST00000408920	ensembl	human	known	69_37n	silent	130	14.94	23	SNP	0.000	G
OR51S1	119692	genome.wustl.edu	37	11	4870384	4870384	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:4870384T>G	ENST00000322101.2	-	1	130	c.55A>C	c.(55-57)Acc>Ccc	p.T19P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAAGAAGGTGGGGGCCATT	0.512																																						dbGAP											0													105.0	108.0	107.0					11																	4870384		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.55A>C	11.37:g.4870384T>G	ENSP00000322754:p.Thr19Pro		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T19P	ENST00000322101.2	37	c.55	CCDS31362.1	11	.	.	.	.	.	.	.	.	.	.	T	14.82	2.648634	0.47258	.	.	ENSG00000176922	ENST00000322101	T	0.00342	8.03	5.45	5.45	0.79879	.	0.171823	0.28630	N	0.014675	T	0.00300	0.0009	N	0.08118	0	0.30845	N	0.735271	D	0.71674	0.998	P	0.62014	0.897	T	0.73049	-0.4105	10	0.44086	T	0.13	-9.8238	9.8213	0.40885	0.1531:0.0:0.0:0.8468	.	19	Q8NGJ8	O51S1_HUMAN	P	19	ENSP00000322754:T19P	ENSP00000322754:T19P	T	-	1	0	OR51S1	4826960	0.623000	0.27094	0.999000	0.59377	0.784000	0.44337	0.098000	0.15189	2.289000	0.77006	0.460000	0.39030	ACC	OR51S1	-	NULL	ENSG00000176922		0.512	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51S1	HGNC	protein_coding	OTTHUMT00000142179.1	184	0.53	1	T	NM_001004758		4870384	4870384	-1	no_errors	ENST00000322101	ensembl	human	known	69_37n	missense	117	12.69	17	SNP	0.874	G
OR5R1	219479	genome.wustl.edu	37	11	56185393	56185393	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:56185393T>G	ENST00000312253.1	-	1	315	c.316A>C	c.(316-318)Acc>Ccc	p.T106P		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATCATGAAGGTGAGAAAACAA	0.453																																						dbGAP											0													101.0	96.0	98.0					11																	56185393		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.316A>C	11.37:g.56185393T>G	ENSP00000308595:p.Thr106Pro			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T106P	ENST00000312253.1	37	c.316	CCDS31530.1	11	.	.	.	.	.	.	.	.	.	.	T	14.56	2.571368	0.45798	.	.	ENSG00000174942	ENST00000312253	T	0.01369	4.97	5.78	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33670	U	0.004669	T	0.02418	0.0074	L	0.58583	1.82	0.09310	N	1	P	0.49185	0.92	P	0.49829	0.623	T	0.43814	-0.9368	10	0.59425	D	0.04	-13.701	0.8817	0.01236	0.1886:0.1621:0.1362:0.5131	.	106	Q8NH85	OR5R1_HUMAN	P	106	ENSP00000308595:T106P	ENSP00000308595:T106P	T	-	1	0	OR5R1	55941969	0.000000	0.05858	0.988000	0.46212	0.788000	0.44548	-1.805000	0.01737	1.016000	0.39470	0.391000	0.25812	ACC	OR5R1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000174942		0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5R1	HGNC	protein_coding	OTTHUMT00000334444.1	125	0.00	0	T	NM_001004744		56185393	56185393	-1	no_errors	ENST00000312253	ensembl	human	known	69_37n	missense	63	23.17	19	SNP	0.005	G
OR5B21	219968	genome.wustl.edu	37	11	58274798	58274798	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:58274798A>G	ENST00000360374.2	-	1	780	c.781T>C	c.(781-783)Tcc>Ccc	p.S261P		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GACTGGCTGGAGTTGGGCTGT	0.463																																						dbGAP											0													143.0	139.0	140.0					11																	58274798		2201	4295	6496	-	-	-	SO:0001583	missense	0				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.781T>C	11.37:g.58274798A>G	ENSP00000353537:p.Ser261Pro			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S261P	ENST00000360374.2	37	c.781	CCDS31552.1	11	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701354	0.48307	.	.	ENSG00000198283	ENST00000360374	T	0.00272	8.36	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36268	U	0.002700	T	0.00440	0.0014	M	0.80183	2.485	0.09310	N	1	P	0.44877	0.845	P	0.50825	0.651	T	0.37337	-0.9710	10	0.72032	D	0.01	-16.1132	9.5121	0.39082	0.8426:0.0:0.0:0.1574	.	261	A6NL26	OR5BL_HUMAN	P	261	ENSP00000353537:S261P	ENSP00000353537:S261P	S	-	1	0	OR5B21	58031374	0.079000	0.21365	0.826000	0.32828	0.943000	0.58893	1.010000	0.29898	2.210000	0.71456	0.533000	0.62120	TCC	OR5B21	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000198283		0.463	OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B21	HGNC	protein_coding	OTTHUMT00000394891.1	193	0.00	0	A	NM_001005218		58274798	58274798	-1	no_errors	ENST00000360374	ensembl	human	known	69_37n	missense	157	16.04	30	SNP	0.010	G
OR7D2	162998	genome.wustl.edu	37	19	9296873	9296873	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:9296873A>C	ENST00000344248.2	+	1	595	c.416A>C	c.(415-417)cAc>cCc	p.H139P		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	139					regulation of transcription, DNA-templated (GO:0006355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						ATGAACCCCCACCTCTGTGGC	0.473																																						dbGAP											0													153.0	147.0	149.0					19																	9296873		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095468	CCDS32900.1	19p13.2	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8378	protein-coding gene	gene with protein product							Standard	NM_175883		Approved	OR19-4, HTPCRH03, FLJ38149	uc002mkz.1	Q96RA2		ENST00000344248.2:c.416A>C	19.37:g.9296873A>C	ENSP00000345563:p.His139Pro		Q6IFJ7|Q8N133	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.H139P	ENST00000344248.2	37	c.416	CCDS32900.1	19	.	.	.	.	.	.	.	.	.	.	G	2.674	-0.276858	0.05679	.	.	ENSG00000188000	ENST00000344248	T	0.37058	1.22	2.21	-1.38	0.09027	GPCR, rhodopsin-like superfamily (1);	0.849756	0.09817	U	0.751942	T	0.28599	0.0708	N	0.25144	0.715	0.09310	N	1	B	0.30634	0.288	B	0.40038	0.317	T	0.44742	-0.9308	10	0.59425	D	0.04	.	7.9976	0.30277	0.5693:0.0:0.4307:0.0	.	139	Q96RA2	OR7D2_HUMAN	P	139	ENSP00000345563:H139P	ENSP00000345563:H139P	H	+	2	0	OR7D2	9157873	0.000000	0.05858	0.093000	0.20910	0.061000	0.15899	-2.158000	0.01281	-0.564000	0.06070	-1.183000	0.01708	CAC	OR7D2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000188000		0.473	OR7D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7D2	HGNC	protein_coding	OTTHUMT00000449002.1	140	0.70	1	A			9296873	9296873	+1	no_errors	ENST00000344248	ensembl	human	known	69_37n	missense	185	14.22	31	SNP	0.000	C
OR7C2	26658	genome.wustl.edu	37	19	15053028	15053028	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:15053028A>C	ENST00000248072.3	+	1	728	c.728A>C	c.(727-729)cAc>cCc	p.H243P		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TGTGGTTCCCACCTCTCAGTG	0.512																																						dbGAP											0													171.0	160.0	164.0					19																	15053028		2203	4300	6503	-	-	-	SO:0001583	missense	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.728A>C	19.37:g.15053028A>C	ENSP00000248072:p.His243Pro		O43881|Q6IFP9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H243P	ENST00000248072.3	37	c.728	CCDS12320.1	19	.	.	.	.	.	.	.	.	.	.	a	13.75	2.329705	0.41297	.	.	ENSG00000127529	ENST00000248072	T	0.00318	8.12	3.97	3.97	0.46021	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44483	U	0.000452	T	0.01454	0.0047	H	0.99689	4.705	0.43444	D	0.995627	D	0.89917	1.0	D	0.97110	1.0	T	0.01301	-1.1391	10	0.87932	D	0	.	11.1101	0.48228	1.0:0.0:0.0:0.0	.	243	O60412	OR7C2_HUMAN	P	243	ENSP00000248072:H243P	ENSP00000248072:H243P	H	+	2	0	OR7C2	14914028	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	8.197000	0.89727	1.802000	0.52723	0.416000	0.27883	CAC	OR7C2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000127529		0.512	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	HGNC	protein_coding	OTTHUMT00000466281.1	252	0.39	1	A			15053028	15053028	+1	no_errors	ENST00000248072	ensembl	human	known	69_37n	missense	284	16.08	55	SNP	1.000	C
ORMDL2	29095	genome.wustl.edu	37	12	56212797	56212797	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:56212797T>G	ENST00000243045.5	+	2	209	c.14T>G	c.(13-15)gTg>gGg	p.V5G	SARNP_ENST00000336133.3_5'Flank|SARNP_ENST00000552080.1_5'Flank|ORMDL2_ENST00000550836.1_Intron|ORMDL2_ENST00000548974.1_Missense_Mutation_p.V5G|SARNP_ENST00000444631.2_5'Flank|ORMDL2_ENST00000552672.1_Intron|RP11-762I7.5_ENST00000546837.1_Intron|RP11-762I7.5_ENST00000552719.1_Intron	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORMDL sphingolipid biosynthesis regulator 2	5				V -> A (in Ref. 1; AAM43506). {ECO:0000305}.	ceramide metabolic process (GO:0006672)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|lung(3)	4						AATGTGGGGGTGGCACACAGC	0.517																																						dbGAP											0													110.0	94.0	100.0					12																	56212797		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF395707	CCDS8893.1	12q13.2	2014-06-16	2014-06-16			ENSG00000123353			16037	protein-coding gene	gene with protein product		610074	"""ORM1 (S. cerevisiae)-like 2"", ""ORM1-like 2 (S. cerevisiae)"""			12093374, 23066021	Standard	NM_014182		Approved	HSPC160, adoplin-2, MST095, MSTP095	uc001shw.1	Q53FV1		ENST00000243045.5:c.14T>G	12.37:g.56212797T>G	ENSP00000243045:p.Val5Gly		B2RA58|Q7Z4E5|Q8NFX0|Q9P004	Missense_Mutation	SNP	pfam_ORMDL,pirsf_ORMDL	p.V5G	ENST00000243045.5	37	c.14	CCDS8893.1	12	.	.	.	.	.	.	.	.	.	.	T	10.28	1.306691	0.23736	.	.	ENSG00000123353	ENST00000243045;ENST00000548974	.	.	.	5.05	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.42630	0.1211	L	0.31157	0.91	0.80722	D	1	B	0.31485	0.325	B	0.35278	0.199	T	0.14699	-1.0463	9	0.13108	T	0.6	-2.4557	9.6818	0.40074	0.1555:0.0:0.0:0.8444	.	5	Q53FV1	ORML2_HUMAN	G	5	.	ENSP00000243045:V5G	V	+	2	0	ORMDL2	54499064	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	1.815000	0.38981	1.033000	0.39918	-0.336000	0.08194	GTG	ORMDL2	-	pirsf_ORMDL	ENSG00000123353		0.517	ORMDL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORMDL2	HGNC	protein_coding	OTTHUMT00000407934.1	151	0.00	0	T	NM_014182		56212797	56212797	+1	no_errors	ENST00000243045	ensembl	human	known	69_37n	missense	81	28.32	32	SNP	1.000	G
OTUD6B	51633	genome.wustl.edu	37	8	92082538	92082538	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:92082538A>G	ENST00000285420.4	+	1	115	c.16A>G	c.(16-18)Agg>Ggg	p.R6G	GS1-251I9.4_ENST00000522817.1_RNA|OTUD6B_ENST00000404789.3_5'Flank|GS1-251I9.4_ENST00000524003.1_RNA	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	0							cysteine-type peptidase activity (GO:0008234)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			GCCCCGGGTGAGGGTTGAGGG	0.602																																						dbGAP											0													62.0	79.0	73.0					8																	92082538		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100		"""OTU domain containing"""	24281	protein-coding gene	gene with protein product		612021					Standard	NM_016023		Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.16A>G	8.37:g.92082538A>G	ENSP00000285420:p.Arg6Gly		A8K6I1|B4DEY0|Q9NTA4|Q9Y387	Missense_Mutation	SNP	pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU	p.R6G	ENST00000285420.4	37	c.16	CCDS6253.2	8	.	.	.	.	.	.	.	.	.	.	A	16.99	3.272907	0.59649	.	.	ENSG00000155100	ENST00000285420	T	0.49139	0.79	5.53	5.53	0.82687	.	.	.	.	.	T	0.54983	0.1892	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59547	-0.7434	6	0.72032	D	0.01	-3.1074	7.5227	0.27637	0.9044:0.0:0.0956:0.0	.	.	.	.	G	6	ENSP00000285420:R6G	ENSP00000285420:R6G	R	+	1	2	OTUD6B	92151714	1.000000	0.71417	0.961000	0.40146	0.927000	0.56198	3.898000	0.56281	2.315000	0.78130	0.533000	0.62120	AGG	OTUD6B	-	NULL	ENSG00000155100		0.602	OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OTUD6B	HGNC	protein_coding	OTTHUMT00000319968.1	255	0.39	1	A	NM_016023		92082538	92082538	+1	no_errors	ENST00000285420	ensembl	human	known	69_37n	missense	293	16.00	56	SNP	0.971	G
OTUD7B	56957	genome.wustl.edu	37	1	149939361	149939361	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:149939361A>C	ENST00000369135.4	-	4	654	c.360T>G	c.(358-360)ggT>ggG	p.G120G	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	120					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TGCTCCCCCCACCCCCACCAT	0.552																																						dbGAP											0													59.0	64.0	62.0					1																	149939361		1955	4152	6107	-	-	-	SO:0001819	synonymous_variant	0			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.360T>G	1.37:g.149939361A>C			B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.G120	ENST00000369135.4	37	c.360	CCDS41389.1	1																																																																																			OTUD7B	-	NULL	ENSG00000163113		0.552	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	99	0.00	0	A	NM_020205		149939361	149939361	-1	no_errors	ENST00000369135	ensembl	human	known	69_37n	silent	120	19.21	29	SNP	1.000	C
OXNAD1	92106	genome.wustl.edu	37	3	16336476	16336476	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:16336476A>C	ENST00000285083.5	+	6	869	c.404A>C	c.(403-405)cAc>cCc	p.H135P	OXNAD1_ENST00000435829.2_Missense_Mutation_p.H153P|OXNAD1_ENST00000606098.1_Missense_Mutation_p.H135P|OXNAD1_ENST00000605932.1_Missense_Mutation_p.H135P|OXNAD1_ENST00000544043.1_Missense_Mutation_p.H153P	NM_138381.3	NP_612390.1	Q96HP4	OXND1_HUMAN	oxidoreductase NAD-binding domain containing 1	135	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.					mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TATACGAACCACCCTCCTGCC	0.468																																						dbGAP											0													154.0	141.0	145.0					3																	16336476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832787	CCDS2630.1	3p25-p24	2010-03-19			ENSG00000154814	ENSG00000154814			25128	protein-coding gene	gene with protein product						12477932	Standard	NM_138381		Approved	MGC15763	uc003caw.3	Q96HP4	OTTHUMG00000129867	ENST00000285083.5:c.404A>C	3.37:g.16336476A>C	ENSP00000285083:p.His135Pro		Q2HYC7|Q59FA4	Missense_Mutation	SNP	pfam_OxRdtase_FAD/NAD-bd,pfam_Fe_red_NAD-bd_6,superfamily_Riboflavin_synthase-like_b-brl,prints_Phe_hydroxylase,prints_NADH-Cyt_B5_reductase	p.H153P	ENST00000285083.5	37	c.458	CCDS2630.1	3	.	.	.	.	.	.	.	.	.	.	A	25.0	4.590727	0.86851	.	.	ENSG00000154814	ENST00000285083;ENST00000435829;ENST00000544043	T;T;T	0.13538	2.58;2.58;2.58	6.02	6.02	0.97574	Riboflavin synthase-like beta-barrel (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.39545	0.1082	M	0.76002	2.32	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	T	0.16660	-1.0395	10	0.66056	D	0.02	-24.0342	16.5446	0.84426	1.0:0.0:0.0:0.0	.	153;135	F5H620;Q96HP4	.;OXND1_HUMAN	P	135;135;153	ENSP00000285083:H135P;ENSP00000389872:H135P;ENSP00000437967:H153P	ENSP00000285083:H135P	H	+	2	0	OXNAD1	16311480	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	6.951000	0.75983	2.311000	0.77944	0.533000	0.62120	CAC	OXNAD1	-	superfamily_Riboflavin_synthase-like_b-brl	ENSG00000154814		0.468	OXNAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OXNAD1	HGNC	protein_coding	OTTHUMT00000252109.1	117	0.85	1	A	NM_138381		16336476	16336476	+1	no_errors	ENST00000544043	ensembl	human	known	69_37n	missense	154	17.55	33	SNP	1.000	C
P2RX1	5023	genome.wustl.edu	37	17	3803053	3803053	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:3803053A>C	ENST00000225538.3	-	8	1024	c.750T>G	c.(748-750)ggT>ggG	p.G250G		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	250					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CAACCACTCCACCCTGCCAGG	0.542																																						dbGAP											0													105.0	95.0	99.0					17																	3803053		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.750T>G	17.37:g.3803053A>C			Q9UK84	Silent	SNP	pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.G250	ENST00000225538.3	37	c.750	CCDS11040.1	17																																																																																			P2RX1	-	pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000108405		0.542	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX1	HGNC	protein_coding	OTTHUMT00000438391.1	132	0.75	1	A	NM_002558		3803053	3803053	-1	no_errors	ENST00000225538	ensembl	human	known	69_37n	silent	85	19.81	21	SNP	0.049	C
PAFAH1B2	5049	genome.wustl.edu	37	11	117034545	117034545	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:117034545T>G	ENST00000527958.1	+	5	507	c.348T>G	c.(346-348)ggT>ggG	p.G116G	PAFAH1B2_ENST00000530272.1_Silent_p.G116G|PAFAH1B2_ENST00000529887.2_Silent_p.G116G|PAFAH1B2_ENST00000526888.1_Intron|PAFAH1B2_ENST00000419197.2_Silent_p.G116G	NM_002572.3	NP_002563.1	P68402	PA1B2_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)	116					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|positive regulation of macroautophagy (GO:0016239)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			kidney(1)	1	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;1.68e-05)|Epithelial(105;0.000162)|all cancers(92;0.00111)		AAGTAGCAGGTGGGATCGAGG	0.423			T	IGH@	MLCLS																																	dbGAP		Dom	yes		11	11q23	5049	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"""		L	0													201.0	185.0	191.0					11																	117034545		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			D63390	CCDS8380.1, CCDS53713.1, CCDS53714.1, CCDS53715.1	11q23	2011-10-24	2010-02-10			ENSG00000168092			8575	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 2 subunit"""	602508	"""platelet-activating factor acetylhydrolase, isoform Ib, beta subunit 30kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 2 (30kDa)"""			9144386, 9693049	Standard	NM_002572		Approved		uc001pqe.2	P68402		ENST00000527958.1:c.348T>G	11.37:g.117034545T>G			A8DPS5|A8DPS6|A8DPS7|E9PEJ5|E9PLP3|O00687|Q29459|Q6IBR6	Silent	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.G116	ENST00000527958.1	37	c.348	CCDS8380.1	11																																																																																			PAFAH1B2	-	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	ENSG00000168092		0.423	PAFAH1B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B2	HGNC	protein_coding	OTTHUMT00000392826.1	202	0.49	1	T	NM_002572		117034545	117034545	+1	no_errors	ENST00000527958	ensembl	human	known	69_37n	silent	165	15.31	30	SNP	0.999	G
PAH	5053	genome.wustl.edu	37	12	103246667	103246667	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:103246667A>C	ENST00000553106.1	-	7	1240	c.768T>G	c.(766-768)ggT>ggG	p.G256G	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Silent_p.G251G	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	256					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGGCCAGGCCACCCAAGAAAT	0.537																																						dbGAP											0													97.0	101.0	100.0					12																	103246667		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.768T>G	12.37:g.103246667A>C			Q16717|Q8TC14	Silent	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.G256	ENST00000553106.1	37	c.768	CCDS9092.1	12																																																																																			PAH	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	ENSG00000171759		0.537	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	HGNC	protein_coding	OTTHUMT00000406692.1	220	0.45	1	A			103246667	103246667	-1	no_errors	ENST00000553106	ensembl	human	known	69_37n	silent	110	16.03	21	SNP	0.977	C
PAK6	56924	genome.wustl.edu	37	15	40564626	40564626	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:40564626A>C	ENST00000542403.2	+	4	1171	c.1060A>C	c.(1060-1062)Acc>Ccc	p.T354P	PAK6_ENST00000441369.1_Missense_Mutation_p.T354P|PAK6_ENST00000560346.1_Missense_Mutation_p.T354P|PAK6_ENST00000453867.1_Missense_Mutation_p.T354P|PAK6_ENST00000260404.4_Missense_Mutation_p.T354P|PAK6_ENST00000455577.2_Missense_Mutation_p.T354P|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276717.1	NP_001263646.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	354	Linker.				apoptotic process (GO:0006915)|cytoskeleton organization (GO:0007010)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		ATCCCCCCGCACCTGGCACGC	0.667																																						dbGAP											0													48.0	49.0	49.0					15																	40564626		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF276893	CCDS10054.1, CCDS61590.1	15q14	2008-06-17	2008-06-17		ENSG00000137843	ENSG00000137843			16061	protein-coding gene	gene with protein product		608110	"""p21(CDKN1A)-activated kinase 6"""			11278661	Standard	NM_020168		Approved	PAK5	uc001zlb.3	Q9NQU5	OTTHUMG00000129921	ENST00000542403.2:c.1060A>C	15.37:g.40564626A>C	ENSP00000439597:p.Thr354Pro		A8K2G2|B3KYB0|G5E9R2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom	p.T354P	ENST00000542403.2	37	c.1060	CCDS10054.1	15	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449607	0.26074	.	.	ENSG00000137843	ENST00000441369;ENST00000453867;ENST00000455577;ENST00000260404;ENST00000542403	T;T;T;T;T	0.73469	-0.73;-0.73;-0.75;-0.73;-0.73	4.7	4.7	0.59300	.	0.403448	0.29307	N	0.012533	T	0.63022	0.2476	N	0.22421	0.69	0.35164	D	0.770908	B;P	0.35982	0.396;0.531	B;B	0.37833	0.133;0.259	T	0.70457	-0.4866	10	0.30078	T	0.28	.	14.498	0.67702	1.0:0.0:0.0:0.0	.	354;354	Q9NQU5;G5E9R2	PAK6_HUMAN;.	P	354	ENSP00000406873:T354P;ENSP00000401153:T354P;ENSP00000409465:T354P;ENSP00000260404:T354P;ENSP00000439597:T354P	ENSP00000260404:T354P	T	+	1	0	PAK6	38351918	0.998000	0.40836	1.000000	0.80357	0.797000	0.45037	5.372000	0.66156	1.884000	0.54569	0.459000	0.35465	ACC	PAK6	-	NULL	ENSG00000137843		0.667	PAK6-004	NOVEL	alternative_3_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PAK6	HGNC	protein_coding	OTTHUMT00000418355.1	62	0.00	0	A			40564626	40564626	+1	no_errors	ENST00000260404	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	0.994	C
PALD1	27143	genome.wustl.edu	37	10	72301232	72301232	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:72301232T>G	ENST00000263563.6	+	17	2331	c.2063T>G	c.(2062-2064)gTg>gGg	p.V688G		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	688						cytosol (GO:0005829)											TTCCCCGAGGTGGGTGAGGAG	0.632																																						dbGAP											0													79.0	66.0	70.0					10																	72301232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.2063T>G	10.37:g.72301232T>G	ENSP00000263563:p.Val688Gly		B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	smart_Tyr_Pase_cat	p.V688G	ENST00000263563.6	37	c.2063	CCDS31215.1	10	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477201	0.26511	.	.	ENSG00000107719	ENST00000263563	T	0.24350	1.86	3.62	3.62	0.41486	.	0.562707	0.18359	U	0.143637	T	0.23806	0.0576	L	0.39397	1.21	0.41386	D	0.987583	B	0.29646	0.253	B	0.33690	0.168	T	0.08249	-1.0731	10	0.44086	T	0.13	-2.6206	12.158	0.54087	0.0:0.0:0.0:1.0	.	688	Q9ULE6	PALD_HUMAN	G	688	ENSP00000263563:V688G	ENSP00000263563:V688G	V	+	2	0	KIAA1274	71971238	1.000000	0.71417	0.999000	0.59377	0.547000	0.35210	3.758000	0.55220	1.540000	0.49301	0.353000	0.21931	GTG	PALD1	-	NULL	ENSG00000107719		0.632	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALD1	HGNC	protein_coding	OTTHUMT00000048515.2	147	0.67	1	T	NM_014431		72301232	72301232	+1	no_errors	ENST00000263563	ensembl	human	known	69_37n	missense	119	15.60	22	SNP	1.000	G
PAM16	51025	genome.wustl.edu	37	16	4390310	4390310	+	3'UTR	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:4390310A>G	ENST00000318059.3	-	0	525				PAM16_ENST00000571941.1_3'UTR|PAM16_ENST00000573553.1_3'UTR|PAM16_ENST00000577031.1_Intron|PAM16_ENST00000575848.1_3'UTR|CORO7-PAM16_ENST00000572274.1_5'Flank|CORO7-PAM16_ENST00000572467.1_3'UTR|RP11-295D4.1_ENST00000574705.1_RNA|PAM16_ENST00000576217.1_3'UTR	NM_016069.9	NP_057153.8	Q9Y3D7	TIM16_HUMAN	presequence translocase-associated motor 16 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane presequence translocase complex (GO:0005744)				lung(3)	3						GGGCGGGGGGAGCCGAGCAGT	0.537																																						dbGAP											0													73.0	76.0	75.0					16																	4390310		2197	4300	6497	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK026514	CCDS10512.1	16p13.3	2010-10-12	2010-10-12		ENSG00000217930	ENSG00000217930			29679	protein-coding gene	gene with protein product	"""mitochondria associated protein involved in granulocyte macrophage colony stimulating factor signal transduction"""	614336				10810093, 11750097	Standard	NM_016069		Approved	Magmas, Tim16, TIMM16		Q9Y3D7	OTTHUMG00000129466	ENST00000318059.3:c.*10T>C	16.37:g.4390310A>G			Q6I9Z3|Q9H5X3	RNA	SNP	-	NULL	ENST00000318059.3	37	NULL	CCDS10512.1	16																																																																																			PAM16	-	-	ENSG00000217930		0.537	PAM16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAM16	HGNC	protein_coding	OTTHUMT00000251629.2	105	0.00	0	A	NM_016069		4390310	4390310	-1	no_errors	ENST00000573450	ensembl	human	known	69_37n	rna	206	13.81	33	SNP	0.001	G
PAN2	9924	genome.wustl.edu	37	12	56720159	56720159	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:56720159T>G	ENST00000425394.2	-	8	1673	c.1297A>C	c.(1297-1299)Acc>Ccc	p.T433P	PAN2_ENST00000440411.3_Missense_Mutation_p.T433P|PAN2_ENST00000548043.1_Missense_Mutation_p.T433P|PAN2_ENST00000257931.5_Missense_Mutation_p.T433P	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	TTCTTCATGGTGCGCAGAATC	0.587																																						dbGAP											0													52.0	43.0	46.0					12																	56720159		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.1297A>C	12.37:g.56720159T>G	ENSP00000401721:p.Thr433Pro			Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19	p.T433P	ENST00000425394.2	37	c.1297	CCDS44922.1	12	.	.	.	.	.	.	.	.	.	.	t	22.8	4.335226	0.81801	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.25414	1.8;1.81;1.81;1.8	5.13	5.13	0.70059	.	0.052265	0.85682	D	0.000000	T	0.42517	0.1206	M	0.69823	2.125	0.51233	D	0.999916	D;D;D	0.62365	0.991;0.963;0.991	P;P;P	0.53861	0.736;0.736;0.649	T	0.43212	-0.9405	10	0.66056	D	0.02	-17.2619	14.2558	0.66051	0.0:0.0:0.0:1.0	.	433;433;433	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	P	433	ENSP00000401721:T433P;ENSP00000388231:T433P;ENSP00000257931:T433P;ENSP00000449861:T433P	ENSP00000257931:T433P	T	-	1	0	PAN2	55006426	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.981000	0.70524	2.071000	0.62044	0.473000	0.43528	ACC	PAN2	-	NULL	ENSG00000135473		0.587	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN2	HGNC	protein_coding	OTTHUMT00000409024.1	72	0.00	0	T	NM_014871		56720159	56720159	-1	no_errors	ENST00000425394	ensembl	human	known	69_37n	missense	43	15.69	8	SNP	1.000	G
PARD3	56288	genome.wustl.edu	37	10	34671590	34671590	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:34671590T>G	ENST00000374789.3	-	9	1602	c.1277A>C	c.(1276-1278)cAc>cCc	p.H426P	PARD3_ENST00000346874.4_Missense_Mutation_p.H426P|PARD3_ENST00000350537.4_Missense_Mutation_p.H426P|PARD3_ENST00000374773.1_Missense_Mutation_p.H426P|PARD3_ENST00000545693.1_Missense_Mutation_p.H426P|PARD3_ENST00000374794.3_Missense_Mutation_p.H382P|PARD3_ENST00000544292.1_Missense_Mutation_p.H156P|PARD3_ENST00000374790.3_Missense_Mutation_p.H382P|PARD3_ENST00000374776.1_Missense_Mutation_p.H426P|PARD3_ENST00000374788.3_Missense_Mutation_p.H426P|PARD3_ENST00000545260.1_Missense_Mutation_p.H382P|PARD3_ENST00000340077.5_Missense_Mutation_p.H426P	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	426					apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCCCGAGGGGTGTGCGCTATG	0.527																																						dbGAP											0													151.0	110.0	124.0					10																	34671590		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1277A>C	10.37:g.34671590T>G	ENSP00000363921:p.His426Pro		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H426P	ENST00000374789.3	37	c.1277	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	T	11.49	1.653007	0.29336	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.17854	2.65;2.65;2.7;2.7;2.71;2.64;2.66;2.65;2.33;2.25;2.37;2.29	5.88	3.54	0.40534	.	0.608279	0.18703	N	0.133536	T	0.15652	0.0377	L	0.44542	1.39	0.09310	N	0.99999	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29432	0.082;0.022;0.075;0.082;0.075;0.082;0.082;0.0;0.01;0.049;0.158;0.244;0.0;0.0;0.059	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.35607	0.051;0.036;0.118;0.095;0.206;0.051;0.095;0.002;0.044;0.044;0.065;0.095;0.0;0.001;0.15	T	0.29549	-1.0008	10	0.18276	T	0.48	.	8.7017	0.34329	0.0:0.0673:0.1394:0.7933	.	382;382;426;426;426;426;426;426;382;426;426;426;426;426;156	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	P	426;382;426;426;426;382;426;382;426;426;426;156	ENSP00000443147:H426P;ENSP00000440857:H382P;ENSP00000363921:H426P;ENSP00000363920:H426P;ENSP00000340591:H426P;ENSP00000363926:H382P;ENSP00000311986:H426P;ENSP00000363922:H382P;ENSP00000363908:H426P;ENSP00000341844:H426P;ENSP00000363905:H426P;ENSP00000444429:H156P	ENSP00000341844:H426P	H	-	2	0	PARD3	34711596	1.000000	0.71417	0.029000	0.17559	0.110000	0.19582	4.078000	0.57606	0.472000	0.27344	0.533000	0.62120	CAC	PARD3	-	NULL	ENSG00000148498		0.527	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	136	0.00	0	T	NM_019619		34671590	34671590	-1	no_errors	ENST00000374789	ensembl	human	known	69_37n	missense	120	18.67	28	SNP	0.285	G
PARD3B	117583	genome.wustl.edu	37	2	206050531	206050531	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:206050531A>C	ENST00000406610.2	+	14	2175	c.1968A>C	c.(1966-1968)ccA>ccC	p.P656P	PARD3B_ENST00000349953.3_Silent_p.P656P|PARD3B_ENST00000358768.2_Silent_p.P594P|PARD3B_ENST00000462231.1_Silent_p.P656P|PARD3B_ENST00000351153.1_Silent_p.P656P	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	656					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GTGAAGTTCCACCTTCTCCAA	0.433																																						dbGAP											0													181.0	163.0	169.0					2																	206050531		1954	4152	6106	-	-	-	SO:0001819	synonymous_variant	0			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1968A>C	2.37:g.206050531A>C			E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Silent	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P656	ENST00000406610.2	37	c.1968		2																																																																																			PARD3B	-	NULL	ENSG00000116117		0.433	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	199	0.99	2	A	NM_057177		206050531	206050531	+1	no_errors	ENST00000406610	ensembl	human	known	69_37n	silent	217	16.79	44	SNP	0.887	C
PARP2	10038	genome.wustl.edu	37	14	20813206	20813206	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:20813206A>G	ENST00000250416.5	+	2	189	c.162A>G	c.(160-162)ggA>ggG	p.G54G	PARP2_ENST00000429687.3_Silent_p.G54G|RPPH1_ENST00000554988.1_RNA|PARP2_ENST00000527915.1_Silent_p.G54G|RP11-203M5.2_ENST00000528210.1_RNA	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	54					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		CTGTGGCTGGAGGAAAAGCTA	0.498								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																														dbGAP											0													107.0	114.0	112.0					14																	20813206		1962	4145	6107	-	-	-	SO:0001819	synonymous_variant	0			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.162A>G	14.37:g.20813206A>G			Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.G54	ENST00000250416.5	37	c.162	CCDS41910.1	14																																																																																			PARP2	-	NULL	ENSG00000129484		0.498	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	HGNC	protein_coding	OTTHUMT00000387847.2	245	0.81	2	A			20813206	20813206	+1	no_errors	ENST00000250416	ensembl	human	known	69_37n	silent	186	22.08	53	SNP	0.005	G
PARVA	55742	genome.wustl.edu	37	11	12534909	12534909	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:12534909T>G	ENST00000550549.1	+	9	847		c.e9+2		PARVA_ENST00000539723.1_Splice_Site|PARVA_ENST00000538608.1_Missense_Mutation_p.V214G|PARVA_ENST00000334956.8_Splice_Site			Q9NVD7	PARVA_HUMAN	parvin, alpha						actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GTGAAAAAGGTGGGAAAGGGG	0.527																																						dbGAP											0													189.0	190.0	189.0					11																	12534909		2040	4192	6232	-	-	-	SO:0001630	splice_region_variant	0			AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.798+2T>G	11.37:g.12534909T>G			Q96C85|Q9HA48	Splice_Site	SNP	-	e9+2	ENST00000550549.1	37	c.918+2		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.4|20.4	3.989109|3.989109	0.74589|0.74589	.|.	.|.	ENSG00000197702|ENSG00000197702	ENST00000334956;ENST00000539723;ENST00000550549|ENST00000538608	.|T	.|0.36520	.|1.25	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60011	.|0.2236	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999994|0.999994	.|D	.|0.71674	.|0.998	.|D	.|0.80764	.|0.994	.|T	.|0.62181	.|-0.6908	.|7	.|.	.|.	.|.	.|.	15.0401|15.0401	0.71785|0.71785	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|214	.|B7Z952	.|.	.|G	-1|214	.|ENSP00000442960:V214G	.|.	.|V	+|+	.|2	.|0	PARVA|PARVA	12491485|12491485	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.702000|0.702000	0.40608|0.40608	8.040000|8.040000	0.89188|0.89188	2.036000|2.036000	0.60181|0.60181	0.379000|0.379000	0.24179|0.24179	.|GTG	PARVA	-	-	ENSG00000197702		0.527	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	PARVA	HGNC	protein_coding		174	0.00	0	T	NM_018222	Intron	12534909	12534909	+1	no_errors	ENST00000334956	ensembl	human	known	69_37n	splice_site	231	11.49	30	SNP	1.000	G
PAX3	5077	genome.wustl.edu	37	2	223084885	223084885	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:223084885T>G	ENST00000350526.4	-	7	1283	c.1147A>C	c.(1147-1149)Acc>Ccc	p.T383P	PAX3_ENST00000409551.3_Missense_Mutation_p.T382P|PAX3_ENST00000344493.4_Missense_Mutation_p.T383P|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000392069.2_Missense_Mutation_p.T383P|PAX3_ENST00000392070.2_Missense_Mutation_p.T383P|PAX3_ENST00000336840.6_Missense_Mutation_p.T383P	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	383					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGCCAATGGTGGGGTTCATG	0.542			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															dbGAP		Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													85.0	85.0	85.0					2																	223084885		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1147A>C	2.37:g.223084885T>G	ENSP00000343052:p.Thr383Pro		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Pax7,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.T383P	ENST00000350526.4	37	c.1147	CCDS42826.1	2	.	.	.	.	.	.	.	.	.	.	T	13.37	2.215466	0.39102	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	D;D;D;D;D;D	0.94417	-3.37;-3.42;-3.37;-3.35;-3.41;-3.36	5.68	1.78	0.24846	.	0.404516	0.29980	N	0.010715	D	0.90765	0.7101	L	0.47716	1.5	0.80722	D	1	B;B;B;B;B	0.34103	0.175;0.117;0.437;0.437;0.437	B;B;B;B;B	0.34991	0.066;0.193;0.189;0.189;0.189	D	0.85324	0.1086	10	0.48119	T	0.1	.	10.4831	0.44706	0.0:0.7274:0.0:0.2726	.	383;382;383;383;383	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	P	383;383;383;383;383;382;100;100	ENSP00000375921:T383P;ENSP00000342092:T383P;ENSP00000343052:T383P;ENSP00000375922:T383P;ENSP00000338767:T383P;ENSP00000386750:T382P	ENSP00000338767:T383P	T	-	1	0	PAX3	222793129	0.993000	0.37304	0.991000	0.47740	0.983000	0.72400	0.320000	0.19540	0.042000	0.15717	-0.248000	0.11899	ACC	PAX3	-	pfam_Pax7	ENSG00000135903		0.542	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	PAX3	HGNC	protein_coding	OTTHUMT00000328670.1	262	0.00	0	T			223084885	223084885	-1	no_errors	ENST00000392069	ensembl	human	known	69_37n	missense	187	16.37	37	SNP	0.967	G
PBX4	80714	genome.wustl.edu	37	19	19675752	19675752	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:19675752T>G	ENST00000251203.9	-	6	1201	c.915A>C	c.(913-915)acA>acC	p.T305T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	305					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|XY body (GO:0001741)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CGGAGCTAGGTGTTGACAGGC	0.587																																						dbGAP											0													194.0	187.0	189.0					19																	19675752		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ300182	CCDS12406.1	19p13.11	2014-09-11	2007-01-30		ENSG00000105717			"""Homeoboxes / TALE class"""	13403	protein-coding gene	gene with protein product		608127	"""pre-B-cell leukemia transcription factor 4"""				Standard	NM_025245		Approved		uc002nmy.3	Q9BYU1	OTTHUMG00000172310	ENST00000251203.9:c.915A>C	19.37:g.19675752T>G			A5D8Y0|B3KUK9	Silent	SNP	pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.T305	ENST00000251203.9	37	c.915	CCDS12406.1	19																																																																																			PBX4	-	NULL	ENSG00000105717		0.587	PBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX4	HGNC	protein_coding	OTTHUMT00000417784.6	182	0.00	0	T			19675752	19675752	-1	no_errors	ENST00000251203	ensembl	human	known	69_37n	silent	181	13.74	29	SNP	0.174	G
PBXIP1	57326	genome.wustl.edu	37	1	154918515	154918515	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:154918515A>C	ENST00000368463.3	-	10	1706	c.1635T>G	c.(1633-1635)agT>agG	p.S545R	PBXIP1_ENST00000539880.1_Missense_Mutation_p.S372R|PBXIP1_ENST00000498553.1_5'Flank|PBXIP1_ENST00000368465.1_Missense_Mutation_p.S516R|PBXIP1_ENST00000542459.1_Missense_Mutation_p.S390R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	545					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGAAGCTACCACTTTTCCTTG	0.607																																						dbGAP											0													154.0	158.0	157.0					1																	154918515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.1635T>G	1.37:g.154918515A>C	ENSP00000357448:p.Ser545Arg		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	NULL	p.S545R	ENST00000368463.3	37	c.1635	CCDS1074.1	1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.413173	0.42817	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000539880;ENST00000543593;ENST00000542459	T;T;T;T	0.13196	2.61;2.62;2.64;2.63	4.5	-0.646	0.11472	.	1.358150	0.04344	N	0.354560	T	0.10035	0.0246	M	0.62723	1.935	0.21416	N	0.999697	D	0.53462	0.96	P	0.51918	0.684	T	0.31833	-0.9929	10	0.23891	T	0.37	-1.1739	9.1034	0.36683	0.4617:0.0:0.5383:0.0	.	545	Q96AQ6	PBIP1_HUMAN	R	516;545;545;372;321;390	ENSP00000357450:S516R;ENSP00000357448:S545R;ENSP00000440142:S372R;ENSP00000438584:S390R	ENSP00000295523:S545R	S	-	3	2	PBXIP1	153185139	0.000000	0.05858	0.165000	0.22776	0.810000	0.45777	-0.200000	0.09478	-0.020000	0.14032	0.260000	0.18958	AGT	PBXIP1	-	NULL	ENSG00000163346		0.607	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PBXIP1	HGNC	protein_coding	OTTHUMT00000090943.1	129	0.76	1	A	NM_020524		154918515	154918515	-1	no_errors	ENST00000368463	ensembl	human	known	69_37n	missense	195	10.09	22	SNP	0.844	C
PC	5091	genome.wustl.edu	37	11	66638600	66638600	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:66638600T>G	ENST00000393958.2	-	6	649	c.556A>C	c.(556-558)Acc>Ccc	p.T186P	PC_ENST00000524491.1_Missense_Mutation_p.T146P|PC_ENST00000393960.1_Missense_Mutation_p.T186P|PC_ENST00000393955.2_Missense_Mutation_p.T186P|PC_ENST00000355677.3_Missense_Mutation_p.T186P	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	186	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AAGCCGTAGGTGTTGGAGAAC	0.612																																						dbGAP											0													112.0	114.0	113.0					11																	66638600		2200	4295	6495	-	-	-	SO:0001583	missense	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.556A>C	11.37:g.66638600T>G	ENSP00000377530:p.Thr186Pro		B4DN00|Q16705	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase	p.T186P	ENST00000393958.2	37	c.556	CCDS8152.1	11	.	.	.	.	.	.	.	.	.	.	T	19.32	3.805740	0.70682	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5	4.99	4.99	0.66335	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.214734	0.38548	N	0.001653	D	0.94994	0.8380	L	0.31476	0.935	0.43771	D	0.996298	B	0.27679	0.185	B	0.32289	0.143	D	0.93708	0.7021	10	0.59425	D	0.04	-42.0141	12.6279	0.56640	0.0:0.0:0.0:1.0	.	186	P11498	PYC_HUMAN	P	186;186;186;146;186	ENSP00000377527:T186P;ENSP00000377530:T186P;ENSP00000377532:T186P;ENSP00000434192:T146P;ENSP00000347900:T186P	ENSP00000347900:T186P	T	-	1	0	PC	66395176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.446000	0.66600	1.885000	0.54596	0.459000	0.35465	ACC	PC	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase	ENSG00000173599		0.612	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	238	0.83	2	T	NM_001040716		66638600	66638600	-1	no_errors	ENST00000393958	ensembl	human	known	69_37n	missense	149	13.71	24	SNP	1.000	G
PCDHA11	56138	genome.wustl.edu	37	5	140249839	140249839	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:140249839T>G	ENST00000398640.2	+	1	1151	c.1151T>G	c.(1150-1152)gTg>gGg	p.V384G	PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	384	Cadherin 4. {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)			AACGGACAGGTGACCTGCTCG	0.597																																						dbGAP											0													113.0	102.0	106.0					5																	140249839		2203	4300	6503	-	-	-	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.1151T>G	5.37:g.140249839T>G	ENSP00000381636:p.Val384Gly		B2RN58|O75279	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V384G	ENST00000398640.2	37	c.1151	CCDS47284.1	5	.	.	.	.	.	.	.	.	.	.	T	14.51	2.556961	0.45590	.	.	ENSG00000249158	ENST00000398640	T	0.56103	0.48	5.85	5.85	0.93711	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.82070	0.4957	H	0.97186	3.955	0.58432	D	0.999996	D;D	0.76494	0.997;0.999	D;D	0.83275	0.996;0.991	D	0.88214	0.2892	9	0.87932	D	0	.	15.8886	0.79273	0.0:0.0:0.0:1.0	.	384;384	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	G	384	ENSP00000381636:V384G	ENSP00000381636:V384G	V	+	2	0	PCDHA11	140230023	1.000000	0.71417	0.912000	0.35992	0.254000	0.26022	5.859000	0.69539	2.234000	0.73211	0.460000	0.39030	GTG	PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000249158		0.597	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	113	0.88	1	T	NM_018902		140249839	140249839	+1	no_errors	ENST00000398640	ensembl	human	known	69_37n	missense	56	14.93	10	SNP	0.997	G
PCDHA11	56138	genome.wustl.edu	37	5	140250092	140250092	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:140250092A>C	ENST00000398640.2	+	1	1404	c.1404A>C	c.(1402-1404)ccA>ccC	p.P468P	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	468	Cadherin 5. {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)			AGAACAACCCACCAGGCTGCC	0.672																																						dbGAP											0													105.0	110.0	108.0					5																	140250092		2203	4300	6503	-	-	-	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.1404A>C	5.37:g.140250092A>C			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P468	ENST00000398640.2	37	c.1404	CCDS47284.1	5																																																																																			PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000249158		0.672	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	120	0.00	0	A	NM_018902		140250092	140250092	+1	no_errors	ENST00000398640	ensembl	human	known	69_37n	silent	53	20.59	14	SNP	0.069	C
PCDH1	5097	genome.wustl.edu	37	5	141244740	141244740	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:141244740T>G	ENST00000394536.3	-	3	1295	c.1156A>C	c.(1156-1158)Acc>Ccc	p.T386P	PCDH1_ENST00000287008.3_Missense_Mutation_p.T386P|PCDH1_ENST00000456271.1_Missense_Mutation_p.T374P|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.T364P|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	386	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		ATCTCAATGGTGGGGGCATTG	0.577																																					Ovarian(132;1609 1739 4190 14731 45037)	dbGAP											0													147.0	125.0	133.0					5																	141244740		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1156A>C	5.37:g.141244740T>G	ENSP00000378043:p.Thr386Pro		Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.T386P	ENST00000394536.3	37	c.1156	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	t	10.39	1.336851	0.24253	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1	5.35	4.13	0.48395	Cadherin (2);Cadherin-like (1);	0.278681	0.25261	N	0.031959	T	0.36138	0.0956	M	0.63843	1.955	0.38381	D	0.945121	B;P	0.37423	0.323;0.594	B;B	0.37144	0.078;0.242	T	0.45934	-0.9227	10	0.62326	D	0.03	.	4.2189	0.10547	0.1881:0.0938:0.0:0.7181	.	386;386	Q08174;Q08174-2	PCDH1_HUMAN;.	P	386;386;374;397;364	ENSP00000287008:T386P;ENSP00000378043:T386P;ENSP00000403497:T374P;ENSP00000350122:T397P;ENSP00000438825:T364P	ENSP00000287008:T386P	T	-	1	0	PCDH1	141224924	0.982000	0.34865	1.000000	0.80357	0.991000	0.79684	1.031000	0.30165	2.263000	0.75096	0.524000	0.50904	ACC	PCDH1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000156453		0.577	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	88	0.00	0	T	NM_032420		141244740	141244740	-1	no_errors	ENST00000287008	ensembl	human	known	69_37n	missense	84	18.27	19	SNP	1.000	G
PCED1A	64773	genome.wustl.edu	37	20	2816743	2816743	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:2816743T>G	ENST00000360652.2	-	7	1561	c.1059A>C	c.(1057-1059)ccA>ccC	p.P353P	PCED1A_ENST00000356872.3_Silent_p.P302P	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	353																	ATTCATGGGGTGGGAAGGGCT	0.592																																						dbGAP											0													24.0	26.0	25.0					20																	2816743		2198	4291	6489	-	-	-	SO:0001819	synonymous_variant	0			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.1059A>C	20.37:g.2816743T>G			Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Silent	SNP	superfamily_Esterase_SGNH_hydro-type	p.P353	ENST00000360652.2	37	c.1059	CCDS13035.1	20	.	.	.	.	.	.	.	.	.	.	T	10.61	1.399554	0.25291	.	.	ENSG00000132635	ENST00000380531	.	.	.	3.77	2.66	0.31614	.	.	.	.	.	T	0.54029	0.1833	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46884	-0.9159	4	.	.	.	-6.1341	5.6939	0.17845	0.0:0.1227:0.0:0.8773	.	.	.	.	P	136	.	.	H	-	2	0	FAM113A	2764743	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.768000	0.38511	0.815000	0.34398	0.454000	0.30748	CAC	PCED1A	-	NULL	ENSG00000132635		0.592	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1A	HGNC	protein_coding	OTTHUMT00000077676.2	104	0.00	0	T	NM_022760		2816743	2816743	-1	no_errors	ENST00000360652	ensembl	human	known	69_37n	silent	72	19.78	18	SNP	1.000	G
PCED1A	64773	genome.wustl.edu	37	20	2816866	2816866	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:2816866T>G	ENST00000360652.2	-	7	1438	c.936A>C	c.(934-936)ccA>ccC	p.P312P	PCED1A_ENST00000356872.3_Silent_p.P261P	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	312	Poly-Pro.																aaggtgggggtgggagcaagg	0.612																																						dbGAP											0													101.0	107.0	105.0					20																	2816866		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.936A>C	20.37:g.2816866T>G			Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Silent	SNP	superfamily_Esterase_SGNH_hydro-type	p.P312	ENST00000360652.2	37	c.936	CCDS13035.1	20																																																																																			PCED1A	-	NULL	ENSG00000132635		0.612	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1A	HGNC	protein_coding	OTTHUMT00000077676.2	146	0.00	0	T	NM_022760		2816866	2816866	-1	no_errors	ENST00000360652	ensembl	human	known	69_37n	silent	85	24.56	28	SNP	0.947	G
PCIF1	63935	genome.wustl.edu	37	20	44575025	44575025	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:44575025T>G	ENST00000372409.3	+	14	1977		c.e14+2		PCIF1_ENST00000479348.1_Splice_Site	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1						negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CTCCCGCGGGTGAGGGCCAAG	0.647																																						dbGAP											0													83.0	82.0	82.0					20																	44575025		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.1613+2T>G	20.37:g.44575025T>G			E1P5P1|Q54AB9|Q9NT85	Splice_Site	SNP	-	e12+2	ENST00000372409.3	37	c.1613+2	CCDS13388.1	20	.	.	.	.	.	.	.	.	.	.	T	20.6	4.020948	0.75275	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1342	0.65276	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PCIF1	44008432	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	7.640000	0.83355	2.122000	0.65172	0.374000	0.22700	.	PCIF1	-	-	ENSG00000100982		0.647	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	50	0.00	0	T	NM_022104	Intron	44575025	44575025	+1	no_errors	ENST00000372409	ensembl	human	known	69_37n	splice_site	58	16.90	12	SNP	1.000	G
PCLO	27445	genome.wustl.edu	37	7	82580503	82580503	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:82580503T>G	ENST00000333891.9	-	6	9738	c.9401A>C	c.(9400-9402)cAc>cCc	p.H3134P	PCLO_ENST00000437081.1_5'Flank|PCLO_ENST00000423517.2_Missense_Mutation_p.H3134P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGGCTATGGTGCATGGCAGG	0.443																																						dbGAP											0													62.0	63.0	63.0					7																	82580503		2000	4192	6192	-	-	-	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.9401A>C	7.37:g.82580503T>G	ENSP00000334319:p.His3134Pro			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.H3134P	ENST00000333891.9	37	c.9401	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	3.647	-0.072314	0.07228	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16073	2.37;2.37	5.48	4.34	0.51931	.	.	.	.	.	T	0.12860	0.0312	N	0.25647	0.755	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.08055	0.0;0.002;0.003	T	0.04930	-1.0917	9	0.87932	D	0	.	10.5209	0.44918	0.0:0.0765:0.0:0.9235	.	3065;3134;3134	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	P	3065;3134;3134	ENSP00000334319:H3134P;ENSP00000388393:H3134P	ENSP00000334319:H3134P	H	-	2	0	PCLO	82418439	1.000000	0.71417	0.999000	0.59377	0.726000	0.41606	3.872000	0.56085	2.087000	0.62958	0.460000	0.39030	CAC	PCLO	-	NULL	ENSG00000186472		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	98	0.00	0	T	NM_014510		82580503	82580503	-1	no_errors	ENST00000333891	ensembl	human	known	69_37n	missense	73	17.98	16	SNP	0.901	G
PCSK6	5046	genome.wustl.edu	37	15	101933464	101933464	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:101933464T>G	ENST00000348070.1	-	9	1158	c.1159A>C	c.(1159-1161)Acc>Ccc	p.T387P	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.T387P|PCSK6_ENST00000344273.2_Missense_Mutation_p.T387P|PCSK6_ENST00000358417.3_Missense_Mutation_p.T387P|PCSK6_ENST00000331826.7_Missense_Mutation_p.T222P	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	388	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGGCCAGGGTGGAGGCACAC	0.562																																						dbGAP											0													61.0	68.0	66.0					15																	101933464		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1159A>C	15.37:g.101933464T>G	ENSP00000305056:p.Thr387Pro		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel,pfscan_PLAC	p.T387P	ENST00000348070.1	37	c.1159		15	.	.	.	.	.	.	.	.	.	.	T	15.41	2.824469	0.50739	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38	5.61	5.61	0.85477	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.048447	0.85682	D	0.000000	D	0.95020	0.8388	M	0.87617	2.895	0.58432	D	0.999999	D;D;D;P;P;P;D;P;P	0.89917	1.0;1.0;1.0;0.708;0.752;0.752;1.0;0.954;0.928	D;D;D;P;P;P;D;P;D	0.91635	0.999;0.991;0.996;0.46;0.669;0.596;0.984;0.874;0.917	D	0.95715	0.8761	10	0.87932	D	0	-32.3071	15.283	0.73801	0.0:0.0:0.0:1.0	.	388;293;387;388;387;387;388;388;387	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	P	387;387;292;387;387;222	ENSP00000305056:T387P;ENSP00000351193:T387P;ENSP00000344410:T387P;ENSP00000381243:T387P;ENSP00000332052:T222P	ENSP00000332052:T222P	T	-	1	0	PCSK6	99750987	1.000000	0.71417	0.953000	0.39169	0.080000	0.17528	7.729000	0.84864	2.254000	0.74563	0.533000	0.62120	ACC	PCSK6	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53	ENSG00000140479		0.562	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		114	0.00	0	T	NM_002570		101933464	101933464	-1	no_errors	ENST00000348070	ensembl	human	known	69_37n	missense	90	24.17	29	SNP	1.000	G
PCSK7	9159	genome.wustl.edu	37	11	117098987	117098987	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:117098987A>C	ENST00000320934.3	-	4	1178	c.548T>G	c.(547-549)gTg>gGg	p.V183G		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	183	Peptidase S8.				peptide hormone processing (GO:0016486)|protein processing (GO:0016485)	integral component of Golgi membrane (GO:0030173)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CACTACCACCACCGTCACCCC	0.587			T	IGH@	MLCLS																																	dbGAP		Dom	yes		11	11q23.3	9159	proprotein convertase subtilisin/kexin type 7		L	0													259.0	143.0	183.0					11																	117098987		2201	4296	6497	-	-	-	SO:0001583	missense	0			U40623	CCDS8382.1	11q23-q24	2008-02-01			ENSG00000160613	ENSG00000160613			8748	protein-coding gene	gene with protein product		604872				8615762, 9820811	Standard	XM_006718938		Approved	PC7, PC8, LPC, SPC7	uc001pqr.3	Q16549	OTTHUMG00000165640	ENST00000320934.3:c.548T>G	11.37:g.117098987A>C	ENSP00000325917:p.Val183Gly		B0YJ60|Q3C1X1|Q53GM4|Q96FK8|Q9UL57	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.V183G	ENST00000320934.3	37	c.548	CCDS8382.1	11	.	.	.	.	.	.	.	.	.	.	A	25.8	4.670986	0.88348	.	.	ENSG00000160613	ENST00000320934;ENST00000543900;ENST00000525027	D;D	0.93076	-3.16;-3.16	4.66	4.66	0.58398	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.97726	0.9254	H	0.96633	3.855	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98763	1.0725	10	0.87932	D	0	-19.4267	13.4312	0.61057	1.0:0.0:0.0:0.0	.	183	Q16549	PCSK7_HUMAN	G	183	ENSP00000325917:V183G;ENSP00000431181:V183G	ENSP00000325917:V183G	V	-	2	0	PCSK7	116604197	1.000000	0.71417	0.992000	0.48379	0.974000	0.67602	8.487000	0.90454	1.973000	0.57446	0.528000	0.53228	GTG	PCSK7	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	ENSG00000160613		0.587	PCSK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK7	HGNC	protein_coding	OTTHUMT00000385529.2	192	0.00	0	A	NM_004716		117098987	117098987	-1	no_errors	ENST00000320934	ensembl	human	known	69_37n	missense	96	16.52	19	SNP	1.000	C
PDGFRB	5159	genome.wustl.edu	37	5	149497400	149497400	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:149497400A>C	ENST00000261799.4	-	22	3387	c.2918T>G	c.(2917-2919)gTg>gGg	p.V973G		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	973					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCTCATCCACCTGCTGGTA	0.607			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																	dbGAP		Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													57.0	54.0	55.0					5																	149497400		2203	4300	6503	-	-	-	SO:0001583	missense	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2918T>G	5.37:g.149497400A>C	ENSP00000261799:p.Val973Gly		B5A957|Q8N5L4	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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,prints_Tyr_kinase_VEGFR_rcpt_N,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V973G	ENST00000261799.4	37	c.2918	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	A	21.0	4.077101	0.76415	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.78246	-1.16	5.43	5.43	0.79202	.	0.000000	0.49916	D	0.000126	D	0.85444	0.5698	L	0.58810	1.83	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69479	0.964;0.948	D	0.87066	0.2156	10	0.87932	D	0	.	15.4981	0.75673	1.0:0.0:0.0:0.0	.	973;973	A8KAM8;P09619	.;PGFRB_HUMAN	G	973;643	ENSP00000261799:V973G	ENSP00000261799:V973G	V	-	2	0	PDGFRB	149477593	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.830000	0.75319	2.061000	0.61500	0.533000	0.62120	GTG	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000113721		0.607	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	110	0.87	1	A	NM_002609		149497400	149497400	-1	no_errors	ENST00000261799	ensembl	human	known	69_37n	missense	62	19.75	16	SNP	1.000	C
PDHX	8050	genome.wustl.edu	37	11	34982031	34982031	+	Missense_Mutation	SNP	A	A	C	rs200008900		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:34982031A>C	ENST00000227868.4	+	5	691	c.607A>C	c.(607-609)Aca>Cca	p.T203P	PDHX_ENST00000448838.3_Missense_Mutation_p.T188P|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	203	Interaction with DLD.				cellular metabolic process (GO:0044237)|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)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			TAGCCAGGGCACAGCCACTGG	0.378																																						dbGAP											0													59.0	67.0	65.0					11																	34982031		2202	4298	6500	-	-	-	SO:0001583	missense	0			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.607A>C	11.37:g.34982031A>C	ENSP00000227868:p.Thr203Pro		B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Missense_Mutation	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.T203P	ENST00000227868.4	37	c.607	CCDS7896.1	11	.	.	.	.	.	.	.	.	.	.	A	14.28	2.488322	0.44249	.	.	ENSG00000110435	ENST00000533550;ENST00000448838;ENST00000227868;ENST00000533262	T;T;T;T	0.24723	2.67;2.48;1.88;1.84	6.03	4.91	0.64330	E3 binding (3);	0.088898	0.85682	D	0.000000	T	0.21267	0.0512	L	0.28274	0.84	0.80722	D	1	B;B	0.31153	0.31;0.08	B;B	0.35312	0.2;0.081	T	0.04128	-1.0975	10	0.52906	T	0.07	-19.9167	11.8822	0.52581	0.9316:0.0:0.0684:0.0	.	188;203	E9PB14;O00330	.;ODPX_HUMAN	P	143;188;203;176	ENSP00000431281:T143P;ENSP00000389404:T188P;ENSP00000227868:T203P;ENSP00000432277:T176P	ENSP00000227868:T203P	T	+	1	0	PDHX	34938607	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.437000	0.73421	1.102000	0.41551	0.533000	0.62120	ACA	PDHX	-	pfam_E3-bd,superfamily_E3-bd	ENSG00000110435		0.378	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHX	HGNC	protein_coding	OTTHUMT00000390017.1	271	0.00	0	A	NM_003477		34982031	34982031	+1	no_errors	ENST00000227868	ensembl	human	known	69_37n	missense	200	14.10	33	SNP	1.000	C
PDHX	8050	genome.wustl.edu	37	11	34988274	34988274	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:34988274A>C	ENST00000227868.4	+	6	813	c.729A>C	c.(727-729)gcA>gcC	p.A243A	PDHX_ENST00000448838.3_Silent_p.A228A|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	243					cellular metabolic process (GO:0044237)|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)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTCCCACAGCACCTTCGCCCC	0.542																																						dbGAP											0													116.0	113.0	114.0					11																	34988274		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.729A>C	11.37:g.34988274A>C			B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.A243	ENST00000227868.4	37	c.729	CCDS7896.1	11																																																																																			PDHX	-	NULL	ENSG00000110435		0.542	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHX	HGNC	protein_coding	OTTHUMT00000390017.1	239	0.41	1	A	NM_003477		34988274	34988274	+1	no_errors	ENST00000227868	ensembl	human	known	69_37n	silent	163	15.38	30	SNP	0.003	C
PDHX	8050	genome.wustl.edu	37	11	34988328	34988328	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:34988328A>C	ENST00000227868.4	+	6	867	c.783A>C	c.(781-783)ccA>ccC	p.P261P	PDHX_ENST00000448838.3_Silent_p.P246P|PDHX_ENST00000430469.2_Intron			O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	261					cellular metabolic process (GO:0044237)|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)	transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			CTGTGATCCCACCAGTATCAA	0.488																																						dbGAP											0													105.0	99.0	101.0					11																	34988328		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			U82328	CCDS7896.1, CCDS44569.1, CCDS53616.1	11p13	2008-02-05			ENSG00000110435	ENSG00000110435			21350	protein-coding gene	gene with protein product		608769				9467010, 12372595	Standard	NM_003477		Approved	E3BP, proX, PDX1, OPDX, DLDBP	uc001mvt.3	O00330	OTTHUMG00000166491	ENST00000227868.4:c.783A>C	11.37:g.34988328A>C			B4DW62|D3DR11|E9PB14|E9PBP7|O60221|Q96FV8|Q99783	Silent	SNP	pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl	p.P261	ENST00000227868.4	37	c.783	CCDS7896.1	11																																																																																			PDHX	-	NULL	ENSG00000110435		0.488	PDHX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDHX	HGNC	protein_coding	OTTHUMT00000390017.1	248	0.40	1	A	NM_003477		34988328	34988328	+1	no_errors	ENST00000227868	ensembl	human	known	69_37n	silent	172	11.28	22	SNP	0.994	C
PDIA5	10954	genome.wustl.edu	37	3	122811280	122811280	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:122811280T>G	ENST00000316218.7	+	3	343	c.248T>G	c.(247-249)gTg>gGg	p.V83G		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	83					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		ATCTGCTGGGTGGACTGTGGG	0.522																																						dbGAP											0													115.0	105.0	108.0					3																	122811280		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.248T>G	3.37:g.122811280T>G	ENSP00000323313:p.Val83Gly		D3DN95|Q9BV43	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin	p.V83G	ENST00000316218.7	37	c.248	CCDS3020.1	3	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087337	0.55968	.	.	ENSG00000065485	ENST00000316218	T	0.06449	3.3	4.87	4.87	0.63330	Thioredoxin-like fold (1);	0.129568	0.52532	D	0.000078	T	0.09291	0.0229	M	0.64404	1.975	0.80722	D	1	P	0.44195	0.828	B	0.40199	0.322	T	0.02202	-1.1196	10	0.87932	D	0	.	10.7974	0.46468	0.0:0.0:0.0:1.0	.	83	Q14554	PDIA5_HUMAN	G	83	ENSP00000323313:V83G	ENSP00000323313:V83G	V	+	2	0	PDIA5	124293970	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	5.995000	0.70631	2.052000	0.61016	0.459000	0.35465	GTG	PDIA5	-	superfamily_Thioredoxin-like_fold	ENSG00000065485		0.522	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDIA5	HGNC	protein_coding	OTTHUMT00000356192.1	235	0.42	1	T	NM_006810		122811280	122811280	+1	no_errors	ENST00000316218	ensembl	human	known	69_37n	missense	179	15.17	32	SNP	0.989	G
PDLIM7	9260	genome.wustl.edu	37	5	176917535	176917535	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:176917535T>G	ENST00000355841.2	-	7	639				PDLIM7_ENST00000356618.4_Intron|PDLIM7_ENST00000355572.2_Missense_Mutation_p.H211P|PDLIM7_ENST00000359895.2_Intron|PDLIM7_ENST00000393551.1_Intron	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)						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)			AGAGCGCTGGTGGTGCCAGTC	0.647																																						dbGAP											0													33.0	35.0	35.0					5																	176917535		2180	4278	6458	-	-	-	SO:0001627	intron_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.572+335A>C	5.37:g.176917535T>G			Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.H211P	ENST00000355841.2	37	c.632	CCDS4422.1	5	.	.	.	.	.	.	.	.	.	.	T	18.00	3.525312	0.64747	.	.	ENSG00000196923	ENST00000355572	T	0.20069	2.1	4.61	3.44	0.39384	.	.	.	.	.	T	0.41282	0.1152	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.66497	0.944	T	0.26815	-1.0092	8	0.87932	D	0	.	9.3702	0.38250	0.0:0.088:0.0:0.912	.	211	Q9NR12-6	.	P	211	ENSP00000347776:H211P	ENSP00000347776:H211P	H	-	2	0	PDLIM7	176850141	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.810000	0.55613	0.733000	0.32492	-0.456000	0.05471	CAC	PDLIM7	-	NULL	ENSG00000196923		0.647	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDLIM7	HGNC	protein_coding	OTTHUMT00000253423.1	97	0.00	0	T	NM_005451		176917535	176917535	-1	no_errors	ENST00000355572	ensembl	human	known	69_37n	missense	59	15.71	11	SNP	1.000	G
PDSS2	57107	genome.wustl.edu	37	6	107780457	107780457	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:107780457T>G	ENST00000369037.4	-	1	310	c.33A>C	c.(31-33)ccA>ccC	p.P11P	PDSS2_ENST00000453874.2_Silent_p.P11P|PDSS2_ENST00000369031.4_Silent_p.P11P	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	11					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CAAGATAACGTGGCAAGTGCA	0.617											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													44.0	49.0	47.0					6																	107780457		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.33A>C	6.37:g.107780457T>G		1407	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Silent	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.P11	ENST00000369037.4	37	c.33	CCDS5059.1	6																																																																																			PDSS2	-	NULL	ENSG00000164494		0.617	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS2	HGNC	protein_coding	OTTHUMT00000131954.1	66	0.00	0	T	NM_020381		107780457	107780457	-1	no_errors	ENST00000369037	ensembl	human	known	69_37n	silent	23	23.33	7	SNP	0.287	G
PDZD3	79849	genome.wustl.edu	37	11	119058162	119058162	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:119058162A>C	ENST00000531114.1	+	3	1261	c.712A>C	c.(712-714)Acc>Ccc	p.T238P	PDZD3_ENST00000355547.5_Missense_Mutation_p.T172P|PDZD3_ENST00000392817.2_Missense_Mutation_p.T238P|PDZD3_ENST00000322712.4_Missense_Mutation_p.T172P|PDZD3_ENST00000525131.1_Missense_Mutation_p.T159P			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	238	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cGMP-mediated signaling (GO:0019934)|ion transport (GO:0006811)|negative regulation of cGMP biosynthetic process (GO:0030827)|negative regulation of guanylate cyclase activity (GO:0031283)|receptor guanylyl cyclase signaling pathway (GO:0007168)|response to toxic substance (GO:0009636)|water transport (GO:0006833)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|subapical complex (GO:0035003)	guanylate cyclase inhibitor activity (GO:0030251)|ion channel inhibitor activity (GO:0008200)|protein C-terminus binding (GO:0008022)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CTTCAGTGTCACCCATGGTGA	0.602																																						dbGAP											0													36.0	36.0	36.0					11																	119058162		2200	4295	6495	-	-	-	SO:0001583	missense	0			AK091966	CCDS8417.1, CCDS53719.1	11q23.3	2008-02-05	2006-01-24	2006-01-24	ENSG00000172367	ENSG00000172367			19891	protein-coding gene	gene with protein product		607146	"""PDZ domain containing 2"""	PDZK2		11950846	Standard	NM_024791		Approved	FLJ22756, IKEPP	uc001pvz.3	Q86UT5	OTTHUMG00000166224	ENST00000531114.1:c.712A>C	11.37:g.119058162A>C	ENSP00000431164:p.Thr238Pro		Q8N6R4|Q8NAW7|Q8NEX7|Q9H5Z3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T238P	ENST00000531114.1	37	c.712		11	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331537	0.60853	.	.	ENSG00000172367	ENST00000525131;ENST00000531114;ENST00000355547;ENST00000322712;ENST00000454065;ENST00000392817	T;T;T;T;T	0.52295	1.65;1.65;1.65;0.67;1.65	5.52	4.33	0.51752	PDZ/DHR/GLGF (4);	0.202828	0.41823	D	0.000812	T	0.52917	0.1764	L	0.37630	1.12	0.36936	D	0.892113	D;D;D;D	0.76494	0.996;0.999;0.993;0.987	D;D;D;P	0.73380	0.964;0.98;0.917;0.828	T	0.57248	-0.7844	10	0.38643	T	0.18	-12.2265	8.1045	0.30877	0.8206:0.0:0.0:0.1794	.	159;238;172;172	E9PPZ1;Q86UT5;Q86UT5-2;B0YJ61	.;NHRF4_HUMAN;.;.	P	159;238;172;172;172;238	ENSP00000434559:T159P;ENSP00000431164:T238P;ENSP00000347742:T172P;ENSP00000327107:T172P;ENSP00000376564:T238P	ENSP00000327107:T172P	T	+	1	0	PDZD3	118563372	0.999000	0.42202	0.998000	0.56505	0.654000	0.38779	0.946000	0.29069	2.097000	0.63578	0.455000	0.32223	ACC	PDZD3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000172367		0.602	PDZD3-004	KNOWN	basic	protein_coding	PDZD3	HGNC	protein_coding	OTTHUMT00000388471.1	57	0.00	0	A	NM_024791		119058162	119058162	+1	no_errors	ENST00000392817	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	0.998	C
PDZD4	57595	genome.wustl.edu	37	X	153070650	153070650	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:153070650A>C	ENST00000164640.4	-	7	855	c.664T>G	c.(664-666)Tgg>Ggg	p.W222G	PDZD4_ENST00000393758.2_Missense_Mutation_p.W147G|PDZD4_ENST00000544474.1_Missense_Mutation_p.W113G|PDZD4_ENST00000475140.1_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	222						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCCTTCCACCTTTTCGCC	0.582																																						dbGAP											0													106.0	90.0	96.0					X																	153070650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.664T>G	X.37:g.153070650A>C	ENSP00000164640:p.Trp222Gly		B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.W222G	ENST00000164640.4	37	c.664	CCDS14732.1	X	.	.	.	.	.	.	.	.	.	.	A	10.90	1.482325	0.26598	.	.	ENSG00000067840	ENST00000164640;ENST00000393758;ENST00000537633;ENST00000544474	T;T;T	0.05139	3.5;3.49;3.7	5.23	4.04	0.47022	PDZ/DHR/GLGF (1);	0.481828	0.22927	N	0.053955	T	0.08403	0.0209	M	0.62723	1.935	0.46044	D	0.998838	P;B;B;B;B	0.34892	0.474;0.089;0.058;0.0;0.262	B;B;B;B;B	0.31495	0.131;0.112;0.031;0.0;0.083	T	0.06427	-1.0827	10	0.72032	D	0.01	-13.3198	9.7486	0.40462	0.8428:0.0:0.0:0.1572	.	113;228;222;147;126	B7ZKY3;Q17RL8;Q76G19;D3DWW0;B3KVR9	.;.;PDZD4_HUMAN;.;.	G	222;147;126;113	ENSP00000164640:W222G;ENSP00000377355:W147G;ENSP00000442033:W113G	ENSP00000164640:W222G	W	-	1	0	PDZD4	152723844	1.000000	0.71417	0.746000	0.31095	0.695000	0.40330	5.795000	0.69074	0.623000	0.30267	0.486000	0.48141	TGG	PDZD4	-	superfamily_PDZ	ENSG00000067840		0.582	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	124	0.00	0	A	NM_032512		153070650	153070650	-1	no_errors	ENST00000164640	ensembl	human	known	69_37n	missense	122	23.46	38	SNP	0.989	C
PELP1	27043	genome.wustl.edu	37	17	4578608	4578608	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:4578608T>G	ENST00000574876.1	-	10	1135	c.1118A>C	c.(1117-1119)cAc>cCc	p.H373P	PELP1_ENST00000301396.4_Missense_Mutation_p.H517P|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Missense_Mutation_p.T372P|PELP1_ENST00000572293.1_Missense_Mutation_p.H423P|PELP1_ENST00000436683.2_Missense_Mutation_p.H226P			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	373					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGCCTCAAGGTGGATAGAGGG	0.577																																						dbGAP											0													29.0	36.0	34.0					17																	4578608		2073	4196	6269	-	-	-	SO:0001583	missense	0				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1118A>C	17.37:g.4578608T>G	ENSP00000461625:p.His373Pro		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Missense_Mutation	SNP	pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold	p.H517P	ENST00000574876.1	37	c.1550	CCDS58503.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.20|12.20	1.866379|1.866379	0.32977|0.32977	.|.	.|.	ENSG00000141456|ENSG00000141456	ENST00000301396;ENST00000436683|ENST00000269230	T;T|T	0.69040|0.66460	-0.37;-0.19|-0.21	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66963|0.66963	0.2843|0.2843	L|L	0.58101|0.58101	1.795|1.795	0.35599|0.35599	D|D	0.8077|0.8077	D;D|.	0.65815|.	0.995;0.995|.	P;P|.	0.60886|.	0.88;0.88|.	T|T	0.70659|0.70659	-0.4811|-0.4811	9|7	.|0.27082	.|T	.|0.32	-19.3666|-19.3666	7.9172|7.9172	0.29825|0.29825	0.1831:0.0:0.0:0.8169|0.1831:0.0:0.0:0.8169	.|.	226;373|.	E7EV54;Q8IZL8|.	.;PELP1_HUMAN|.	P|P	517;226|372	ENSP00000301396:H517P;ENSP00000416231:H226P|ENSP00000269230:T372P	.|ENSP00000269230:T372P	H|T	-|-	2|1	0|0	AC091153.1|AC091153.1	4525357|4525357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.950000|0.950000	0.60333|0.60333	5.716000|5.716000	0.68437|0.68437	2.048000|2.048000	0.60808|0.60808	0.459000|0.459000	0.35465|0.35465	CAC|ACC	PELP1	-	NULL	ENSG00000141456		0.577	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PELP1	HGNC	protein_coding	OTTHUMT00000439140.2	110	0.00	0	T	NM_014389		4578608	4578608	-1	no_errors	ENST00000301396	ensembl	human	known	69_37n	missense	57	17.14	12	SNP	1.000	G
PER1	5187	genome.wustl.edu	37	17	8048062	8048062	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:8048062T>G	ENST00000317276.4	-	18	2699				PER1_ENST00000578089.1_Intron|PER1_ENST00000354903.5_Missense_Mutation_p.H807P|PER1_ENST00000581082.1_Intron	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1						circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGGCCCCAGGTGGCTACCTCG	0.642			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														dbGAP		Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													19.0	16.0	17.0					17																	8048062		2187	4277	6464	-	-	-	SO:0001627	intron_variant	0			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2461+6A>C	17.37:g.8048062T>G			B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.H807P	ENST00000317276.4	37	c.2420	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	T	7.054	0.565079	0.13498	.	.	ENSG00000179094	ENST00000354903	T	0.34667	1.35	5.17	2.89	0.33648	.	.	.	.	.	T	0.24044	0.0582	.	.	.	0.31603	N	0.652447	B	0.02656	0.0	B	0.01281	0.0	T	0.17349	-1.0372	8	0.37606	T	0.19	.	6.377	0.21513	0.0:0.0852:0.1593:0.7555	.	807	B4DI49	.	P	807	ENSP00000346979:H807P	ENSP00000346979:H807P	H	-	2	0	PER1	7988787	0.996000	0.38824	0.080000	0.20451	0.251000	0.25915	0.263000	0.18478	0.361000	0.24292	0.533000	0.62120	CAC	PER1	-	NULL	ENSG00000179094		0.642	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	33	0.00	0	T			8048062	8048062	-1	no_errors	ENST00000354903	ensembl	human	putative	69_37n	missense	12	40.00	8	SNP	0.899	G
PEX14	5195	genome.wustl.edu	37	1	10689815	10689815	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:10689815T>G	ENST00000356607.4	+	9	985	c.905T>G	c.(904-906)gTg>gGg	p.V302G	PEX14_ENST00000538836.1_Missense_Mutation_p.V238G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	302					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGCGAGGGGGTGGTGGACGTC	0.652																																						dbGAP											0													150.0	138.0	143.0					1																	10689815		2191	4290	6481	-	-	-	SO:0001583	missense	0			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.905T>G	1.37:g.10689815T>G	ENSP00000349016:p.Val302Gly		B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	pfam_Pex14_N	p.V302G	ENST00000356607.4	37	c.905	CCDS30582.1	1	.	.	.	.	.	.	.	.	.	.	T	6.364	0.435297	0.12045	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.24908	1.84;1.83	4.81	2.5	0.30297	.	0.333668	0.30446	N	0.009608	T	0.18087	0.0434	L	0.46157	1.445	0.23371	N	0.997811	B;B	0.15473	0.013;0.0	B;B	0.16289	0.015;0.001	T	0.23119	-1.0197	10	0.24483	T	0.36	.	4.743	0.13024	0.1461:0.1307:0.0:0.7232	.	259;302	O75381-2;O75381	.;PEX14_HUMAN	G	302;238	ENSP00000349016:V302G;ENSP00000444877:V238G	ENSP00000349016:V302G	V	+	2	0	PEX14	10612402	0.840000	0.29493	0.968000	0.41197	0.974000	0.67602	0.599000	0.24089	0.229000	0.21039	0.460000	0.39030	GTG	PEX14	-	NULL	ENSG00000142655		0.652	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	HGNC	protein_coding	OTTHUMT00000005414.1	312	0.93	3	T			10689815	10689815	+1	no_errors	ENST00000356607	ensembl	human	known	69_37n	missense	320	13.71	51	SNP	0.106	G
PEX14	5195	genome.wustl.edu	37	1	10689848	10689848	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:10689848T>G	ENST00000356607.4	+	9	1018	c.938T>G	c.(937-939)gTg>gGg	p.V313G	PEX14_ENST00000538836.1_Missense_Mutation_p.V249G	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	313					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CGGATGGAGGTGCAAGGCgag	0.657																																						dbGAP											0													242.0	222.0	229.0					1																	10689848		2191	4294	6485	-	-	-	SO:0001583	missense	0			AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.938T>G	1.37:g.10689848T>G	ENSP00000349016:p.Val313Gly		B2R7N1|B3KML6|B7Z1N2|Q8WX51	Missense_Mutation	SNP	pfam_Pex14_N	p.V313G	ENST00000356607.4	37	c.938	CCDS30582.1	1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.582442	0.65992	.	.	ENSG00000142655	ENST00000356607;ENST00000538836	T;T	0.38560	1.25;1.13	5.03	5.03	0.67393	.	0.127802	0.51477	D	0.000087	T	0.59197	0.2176	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.87578	0.998;0.69	T	0.56044	-0.8044	10	0.28530	T	0.3	.	14.7538	0.69549	0.0:0.0:0.0:1.0	.	270;313	O75381-2;O75381	.;PEX14_HUMAN	G	313;249	ENSP00000349016:V313G;ENSP00000444877:V249G	ENSP00000349016:V313G	V	+	2	0	PEX14	10612435	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.532000	0.81985	1.880000	0.54463	0.460000	0.39030	GTG	PEX14	-	NULL	ENSG00000142655		0.657	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	HGNC	protein_coding	OTTHUMT00000005414.1	444	0.45	2	T			10689848	10689848	+1	no_errors	ENST00000356607	ensembl	human	known	69_37n	missense	435	10.82	53	SNP	1.000	G
PFAS	5198	genome.wustl.edu	37	17	8158845	8158845	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:8158845T>G	ENST00000314666.6	+	5	543	c.410T>G	c.(409-411)gTg>gGg	p.V137G	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	137					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TCAGCTGAGGTGGAAGCCATT	0.582																																						dbGAP											0													62.0	58.0	59.0					17																	8158845		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.410T>G	17.37:g.8158845T>G	ENSP00000313490:p.Val137Gly		A6H8V8	Missense_Mutation	SNP	pfam_AIR_synth_C,pfam_AIR_synth,superfamily_PurM_N-like,superfamily_AIR_synth_C,tigrfam_PRibForGlyAmidine_synth	p.V137G	ENST00000314666.6	37	c.410	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	T	5.385	0.256331	0.10185	.	.	ENSG00000178921	ENST00000314666	T	0.42900	0.96	5.66	2.07	0.26955	.	0.671223	0.15920	N	0.238170	T	0.22399	0.0540	N	0.24115	0.695	0.33107	D	0.539986	B	0.19445	0.036	B	0.15484	0.013	T	0.17745	-1.0359	10	0.44086	T	0.13	-1.8285	0.6356	0.00802	0.1928:0.1849:0.1391:0.4833	.	137	O15067	PUR4_HUMAN	G	137	ENSP00000313490:V137G	ENSP00000313490:V137G	V	+	2	0	PFAS	8099570	0.987000	0.35691	0.601000	0.28877	0.246000	0.25737	0.958000	0.29227	0.432000	0.26286	0.379000	0.24179	GTG	PFAS	-	tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.582	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	112	0.00	0	T			8158845	8158845	+1	no_errors	ENST00000314666	ensembl	human	known	69_37n	missense	66	15.38	12	SNP	0.613	G
PFAS	5198	genome.wustl.edu	37	17	8168691	8168691	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:8168691T>G	ENST00000314666.6	+	19	2499	c.2366T>G	c.(2365-2367)gTg>gGg	p.V789G	PFAS_ENST00000545834.1_Missense_Mutation_p.V365G	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	789					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	GAGGCTATGGTGGCAGTGATG	0.647																																						dbGAP											0													75.0	85.0	82.0					17																	8168691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.2366T>G	17.37:g.8168691T>G	ENSP00000313490:p.Val789Gly		A6H8V8	Missense_Mutation	SNP	pfam_AIR_synth_C,pfam_AIR_synth,superfamily_PurM_N-like,superfamily_AIR_synth_C,tigrfam_PRibForGlyAmidine_synth	p.V789G	ENST00000314666.6	37	c.2366	CCDS11136.1	17	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960634	0.34565	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.28454	1.61;2.34	5.89	3.66	0.41972	PurM, N-terminal-like (1);	0.218004	0.40144	N	0.001171	T	0.08980	0.0222	N	0.02539	-0.55	0.50632	D	0.999889	B	0.06786	0.001	B	0.06405	0.002	T	0.20706	-1.0267	10	0.02654	T	1	-14.0855	5.4178	0.16384	0.0:0.1563:0.1466:0.6971	.	789	O15067	PUR4_HUMAN	G	365;789;198	ENSP00000441706:V365G;ENSP00000313490:V789G	ENSP00000313490:V789G	V	+	2	0	PFAS	8109416	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	2.953000	0.49105	1.052000	0.40392	0.460000	0.39030	GTG	PFAS	-	superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth	ENSG00000178921		0.647	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFAS	HGNC	protein_coding	OTTHUMT00000226994.2	143	0.00	0	T			8168691	8168691	+1	no_errors	ENST00000314666	ensembl	human	known	69_37n	missense	92	15.60	17	SNP	1.000	G
PFKFB3	5209	genome.wustl.edu	37	10	6268269	6268269	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:6268269A>C	ENST00000379775.4	+	14	1786	c.1456A>C	c.(1456-1458)Acc>Ccc	p.T486P	PFKFB3_ENST00000540253.1_Missense_Mutation_p.T500P|PFKFB3_ENST00000360521.2_Missense_Mutation_p.T486P|PFKFB3_ENST00000379785.1_Missense_Mutation_p.T486P|PFKFB3_ENST00000379789.4_Missense_Mutation_p.T466P|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000379782.3_Missense_Mutation_p.T486P|PFKFB3_ENST00000317350.4_Missense_Mutation_p.T486P	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	486	Fructose-2,6-bisphosphatase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGTGGCCTCCACCTCGGCCGC	0.642																																						dbGAP											0													73.0	80.0	77.0					10																	6268269		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7078.1, CCDS44353.1, CCDS60479.1	10p15.1	2008-05-14			ENSG00000170525	ENSG00000170525			8874	protein-coding gene	gene with protein product		605319				9146922, 10072580	Standard	NM_004566		Approved		uc001ije.3	Q16875	OTTHUMG00000017621	ENST00000379775.4:c.1456A>C	10.37:g.6268269A>C	ENSP00000369100:p.Thr486Pro		B7Z955|O43622|O75902|Q5VX15|Q5VX18|Q5VX19	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.T500P	ENST00000379775.4	37	c.1498	CCDS7078.1	10	.	.	.	.	.	.	.	.	.	.	A	13.13	2.145961	0.37923	.	.	ENSG00000170525	ENST00000379789;ENST00000540253;ENST00000379781;ENST00000317350;ENST00000379785;ENST00000379782;ENST00000360521;ENST00000379775;ENST00000358499;ENST00000414237	.	.	.	5.24	2.86	0.33363	.	0.345887	0.31797	N	0.007047	T	0.10809	0.0264	N	0.19112	0.55	0.28711	N	0.903555	P;B;B;B	0.38335	0.627;0.0;0.0;0.077	B;B;B;B	0.23574	0.047;0.001;0.001;0.039	T	0.11941	-1.0567	9	0.19590	T	0.45	-4.6647	0.8014	0.01075	0.4756:0.1639:0.2027:0.1578	.	500;486;486;466	B7Z955;Q16875-2;Q16875;Q5VX15	.;.;F263_HUMAN;.	P	466;500;80;486;486;486;486;486;486;55	.	ENSP00000369105:T486P	T	+	1	0	PFKFB3	6308275	0.426000	0.25506	0.966000	0.40874	0.864000	0.49448	0.791000	0.26915	0.301000	0.22738	0.533000	0.62120	ACC	PFKFB3	-	NULL	ENSG00000170525		0.642	PFKFB3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PFKFB3	HGNC	protein_coding	OTTHUMT00000046647.1	79	0.00	0	A			6268269	6268269	+1	no_errors	ENST00000540253	ensembl	human	known	69_37n	missense	49	18.33	11	SNP	0.981	C
PFKM	5213	genome.wustl.edu	37	12	48526792	48526792	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:48526792A>C	ENST00000312352.7	+	5	418	c.379A>C	c.(379-381)Acc>Ccc	p.T127P	PFKM_ENST00000359794.5_Missense_Mutation_p.T127P|PFKM_ENST00000547587.1_Missense_Mutation_p.T127P|PFKM_ENST00000551804.1_Missense_Mutation_p.T127P|PFKM_ENST00000340802.6_Missense_Mutation_p.T198P|PFKM_ENST00000395233.2_Missense_Mutation_p.T127P	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	127	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGGGGCTGACACCTTCCGTTC	0.532																																						dbGAP											0													110.0	105.0	107.0					12																	48526792		2203	4300	6503	-	-	-	SO:0001583	missense	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.379A>C	12.37:g.48526792A>C	ENSP00000309438:p.Thr127Pro		J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.T127P	ENST00000312352.7	37	c.379	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	A	14.52	2.559581	0.45590	.	.	ENSG00000152556	ENST00000550345;ENST00000340802;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352	T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	4.57	3.41	0.39046	Phosphofructokinase domain (2);	0.252568	0.39759	N	0.001277	T	0.78685	0.4322	L	0.54323	1.7	0.38832	D	0.955871	P;B;P	0.36712	0.566;0.148;0.496	B;B;B	0.42692	0.395;0.224;0.365	T	0.79885	-0.1614	10	0.62326	D	0.03	-23.7289	10.3276	0.43803	0.852:0.0:0.0:0.148	.	127;127;198	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	P	127;198;127;127;127;127;127;127;127;127	ENSP00000450369:T127P;ENSP00000345771:T198P;ENSP00000352842:T127P;ENSP00000448253:T127P;ENSP00000378656:T127P;ENSP00000449269:T127P;ENSP00000448177:T127P;ENSP00000446805:T127P;ENSP00000449426:T127P;ENSP00000309438:T127P	ENSP00000309438:T127P	T	+	1	0	PFKM	46813059	0.276000	0.24211	1.000000	0.80357	0.992000	0.81027	0.801000	0.27055	1.053000	0.40415	-0.341000	0.08007	ACC	PFKM	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk	ENSG00000152556		0.532	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	103	0.00	0	A	NM_000289		48526792	48526792	+1	no_errors	ENST00000312352	ensembl	human	known	69_37n	missense	48	27.27	18	SNP	1.000	C
PFKM	5213	genome.wustl.edu	37	12	48539459	48539459	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:48539459A>C	ENST00000312352.7	+	23	2350	c.2311A>C	c.(2311-2313)Acc>Ccc	p.T771P	PFKM_ENST00000359794.5_Missense_Mutation_p.T771P|PFKM_ENST00000547587.1_Missense_Mutation_p.T771P|PFKM_ENST00000551804.1_Missense_Mutation_p.T740P|PFKM_ENST00000340802.6_Missense_Mutation_p.T842P|PFKM_ENST00000395233.2_Missense_Mutation_p.T740P	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	771	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGAGCACATCACCCGGAAGCG	0.527																																						dbGAP											0													108.0	90.0	96.0					12																	48539459		2203	4300	6503	-	-	-	SO:0001583	missense	0			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.2311A>C	12.37:g.48539459A>C	ENSP00000309438:p.Thr771Pro		J3KNX3|Q16814|Q16815|Q6ZTT1	Missense_Mutation	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.T771P	ENST00000312352.7	37	c.2311	CCDS8760.1	12	.	.	.	.	.	.	.	.	.	.	A	14.28	2.489004	0.44249	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352	T;T;T;T;T;T	0.81247	-1.47;-1.45;-1.47;-1.47;-1.45;-1.45	5.05	1.25	0.21368	.	1.174720	0.05832	N	0.617831	T	0.70605	0.3243	L	0.27053	0.805	0.22253	N	0.999259	P;B;P	0.37141	0.584;0.449;0.459	B;B;B	0.35899	0.213;0.106;0.163	T	0.57394	-0.7819	10	0.38643	T	0.18	-0.0096	10.1662	0.42882	0.4899:0.0:0.0:0.5101	.	740;771;842	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	P	842;771;740;740;771;771	ENSP00000345771:T842P;ENSP00000352842:T771P;ENSP00000378656:T740P;ENSP00000448177:T740P;ENSP00000449426:T771P;ENSP00000309438:T771P	ENSP00000309438:T771P	T	+	1	0	PFKM	46825726	0.027000	0.19231	0.154000	0.22540	0.932000	0.56968	2.245000	0.43133	0.110000	0.17919	0.533000	0.62120	ACC	PFKM	-	NULL	ENSG00000152556		0.527	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	126	0.79	1	A	NM_000289		48539459	48539459	+1	no_errors	ENST00000312352	ensembl	human	known	69_37n	missense	85	14.85	15	SNP	0.735	C
PGA3	643834	genome.wustl.edu	37	11	60971703	60971703	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:60971703A>C	ENST00000325558.6	+	2	366	c.181A>C	c.(181-183)Acc>Ccc	p.T61P		NM_001079807.1	NP_001073275.1	P0DJD8	PEPA3_HUMAN	pepsinogen 3, group I (pepsinogen A)	61					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						GAAGGCTCCCACCCTGGTAGA	0.602																																						dbGAP											0													97.0	107.0	104.0					11																	60971703		1915	3892	5807	-	-	-	SO:0001583	missense	0			AL832946	CCDS31574.1	11q13	2006-12-13			ENSG00000229859	ENSG00000229859	3.4.23.1		8885	protein-coding gene	gene with protein product		169710				6300126	Standard	NM_001079807		Approved		uc001nqx.3	P0DJD8	OTTHUMG00000168071	ENST00000325558.6:c.181A>C	11.37:g.60971703A>C	ENSP00000322192:p.Thr61Pro		A8K749|B2R7D6|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.T61P	ENST00000325558.6	37	c.181	CCDS31574.1	11	.	.	.	.	.	.	.	.	.	.	A	8.320	0.824183	0.16678	.	.	ENSG00000229859	ENST00000325558;ENST00000439843	T	0.58940	0.3	3.81	-7.62	0.01294	.	.	.	.	.	T	0.46132	0.1377	M	0.69248	2.105	0.09310	N	0.999999	P;P	0.37955	0.612;0.594	B;B	0.37144	0.162;0.242	T	0.24657	-1.0154	9	0.29301	T	0.29	.	6.5667	0.22515	0.1661:0.0:0.4075:0.4263	.	61;61	E7EUP8;F8WAB4	.;.	P	61	ENSP00000322192:T61P	ENSP00000322192:T61P	T	+	1	0	PGA3	60728279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.792000	0.01756	-2.016000	0.00945	-0.490000	0.04691	ACC	PGA3	-	superfamily_Peptidase_aspartic	ENSG00000229859		0.602	PGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGA3	HGNC	protein_coding	OTTHUMT00000397955.2	442	0.45	2	A	NM_001079807		60971703	60971703	+1	no_errors	ENST00000325558	ensembl	human	known	69_37n	missense	280	14.89	49	SNP	0.000	C
PGA5	5222	genome.wustl.edu	37	11	61018649	61018649	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:61018649A>C	ENST00000312403.5	+	9	1248	c.1063A>C	c.(1063-1065)Acc>Ccc	p.T355P	PGA5_ENST00000451616.2_Missense_Mutation_p.T201P|PGA5_ENST00000541528.1_Missense_Mutation_p.T95P|CTD-2331C18.5_ENST00000537594.1_RNA|PGA4_ENST00000422676.2_Missense_Mutation_p.T355P	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)	355					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			large_intestine(1)|skin(1)	2						GAACGTCCCCACCGAATCTGG	0.572																																						dbGAP											0													171.0	163.0	166.0					11																	61018649		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.1063A>C	11.37:g.61018649A>C	ENSP00000309542:p.Thr355Pro		A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.T355P	ENST00000312403.5	37	c.1063	CCDS8001.1	11	.	.	.	.	.	.	.	.	.	.	A	7.602	0.672992	0.14776	.	.	ENSG00000229183;ENSG00000256713;ENSG00000256713;ENSG00000256713;ENSG00000256713	ENST00000422676;ENST00000312403;ENST00000544083;ENST00000451616;ENST00000541528	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	2.78	0.257	0.15574	.	0.282600	0.26875	U	0.022052	T	0.31104	0.0786	N	0.16478	0.41	0.09310	N	1	P	0.36125	0.538	B	0.39738	0.308	T	0.27905	-1.0060	10	0.13853	T	0.58	.	7.2628	0.26214	0.5366:0.0:0.0:0.4634	.	355	B7ZW62	.	P	355;355;216;201;95	ENSP00000395402:T355P;ENSP00000309542:T355P;ENSP00000408739:T201P;ENSP00000441981:T95P	ENSP00000395402:T355P	T	+	1	0	PGA4;PGA5	60775225	0.000000	0.05858	0.000000	0.03702	0.457000	0.32468	0.154000	0.16343	0.042000	0.15717	0.344000	0.21773	ACC	PGA5	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic	ENSG00000256713		0.572	PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGA5	HGNC	protein_coding	OTTHUMT00000397972.1	346	0.57	2	A	NM_014224		61018649	61018649	+1	no_errors	ENST00000312403	ensembl	human	known	69_37n	missense	253	12.11	35	SNP	0.002	C
PGBD5	79605	genome.wustl.edu	37	1	230486837	230486837	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:230486837A>C	ENST00000525115.1	-	3	577	c.554T>G	c.(553-555)gTg>gGg	p.V185G	PGBD5_ENST00000391860.1_Splice_Site_p.V139G|PGBD5_ENST00000321327.2_Splice_Site_p.V284G			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	185						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TTCATGTAGCACCTGCCAGGA	0.532																																						dbGAP											0													72.0	60.0	64.0					1																	230486837		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.553-1T>G	1.37:g.230486837A>C			A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	NULL	p.V284G	ENST00000525115.1	37	c.851		1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114728	0.77210	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.19105	2.17;2.17;2.17	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.34135	0.0887	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04946	-1.0916	10	0.33940	T	0.23	-40.3838	16.3483	0.83171	1.0:0.0:0.0:0.0	.	185	Q8N414	PGBD5_HUMAN	G	139;284;185	ENSP00000375733:V139G;ENSP00000322530:V284G;ENSP00000431404:V185G	ENSP00000322530:V284G	V	-	2	0	PGBD5	228553460	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.088000	0.94132	2.254000	0.74563	0.533000	0.62120	GTG	PGBD5	-	NULL	ENSG00000177614		0.532	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	99	0.00	0	A	NM_024554	Missense_Mutation	230486837	230486837	-1	no_errors	ENST00000321327	ensembl	human	known	69_37n	missense	162	13.76	26	SNP	1.000	C
PGLYRP2	114770	genome.wustl.edu	37	19	15590171	15590171	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:15590171A>C	ENST00000340880.4	-	1	492	c.12T>G	c.(10-12)ggT>ggG	p.G4G	PGLYRP2_ENST00000292609.4_Silent_p.G4G	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	4					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						TCCAGAGGACACCCTGGGCCA	0.587																																						dbGAP											0													109.0	90.0	96.0					19																	15590171		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.12T>G	19.37:g.15590171A>C			A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Silent	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.G4	ENST00000340880.4	37	c.12	CCDS12330.2	19																																																																																			PGLYRP2	-	NULL	ENSG00000161031		0.587	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	167	0.00	0	A	NM_052890		15590171	15590171	-1	no_errors	ENST00000292609	ensembl	human	known	69_37n	silent	108	12.90	16	SNP	0.000	C
PHACTR1	221692	genome.wustl.edu	37	6	13283673	13283673	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:13283673T>G	ENST00000379335.3	+	3	326	c.221T>G	c.(220-222)gTg>gGg	p.V74G	RP1-257A7.4_ENST00000399446.2_RNA|PHACTR1_ENST00000379329.1_Missense_Mutation_p.V74G|PHACTR1_ENST00000332995.7_Missense_Mutation_p.V510G|PHACTR1_ENST00000457702.2_Missense_Mutation_p.V365G|RP1-257A7.4_ENST00000606150.1_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	510					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			AGGCCCACGGTGGAAGAGCTT	0.577																																						dbGAP											0													125.0	137.0	133.0					6																	13283673		2032	4200	6232	-	-	-	SO:0001583	missense	0			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379335.3:c.221T>G	6.37:g.13283673T>G	ENSP00000368639:p.Val74Gly		A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.V74G	ENST00000379335.3	37	c.221		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.3|26.3	4.728331|4.728331	0.89390|0.89390	.|.	.|.	ENSG00000112137|ENSG00000112137	ENST00000332995;ENST00000457702;ENST00000379335;ENST00000379329|ENST00000415087	T;T|.	0.42513|.	0.97;1.01|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70911|0.70911	0.3278|0.3278	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.77557|.	0.99|.	T|T	0.73579|0.73579	-0.3938|-0.3938	10|5	0.87932|.	D|.	0|.	-19.3153|-19.3153	15.2966|15.2966	0.73913|0.73913	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	510|.	Q9C0D0|.	PHAR1_HUMAN|.	G|G	510;365;74;74|345	ENSP00000329880:V510G;ENSP00000397669:V365G|.	ENSP00000329880:V510G|.	V|W	+|+	2|1	0|0	PHACTR1|PHACTR1	13391652|13391652	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	8.040000|8.040000	0.89188|0.89188	2.210000|2.210000	0.71456|0.71456	0.533000|0.533000	0.62120|0.62120	GTG|TGG	PHACTR1	-	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	ENSG00000112137		0.577	PHACTR1-003	KNOWN	basic|appris_candidate	protein_coding	PHACTR1	HGNC	protein_coding	OTTHUMT00000039878.1	131	0.00	0	T	XM_166420		13283673	13283673	+1	no_errors	ENST00000379335	ensembl	human	known	69_37n	missense	77	17.20	16	SNP	1.000	G
PHB	5245	genome.wustl.edu	37	17	47484119	47484119	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:47484119A>C	ENST00000300408.3	-	6	679		c.e6+1		RP11-81K2.1_ENST00000576461.1_Intron|RP11-1079K10.4_ENST00000506504.3_RNA|PHB_ENST00000511832.1_Intron|PHB_ENST00000508009.1_Splice_Site	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin						cellular response to interleukin-6 (GO:0071354)|DNA replication (GO:0006260)|histone deacetylation (GO:0016575)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone receptor signaling pathway (GO:0050847)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|transcription regulatory region DNA binding (GO:0044212)			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			TCGAAGGCTCACCTTTTCCAC	0.552																																						dbGAP											0													99.0	99.0	99.0					17																	47484119		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS11548.1, CCDS62244.1	17q21	2010-11-25			ENSG00000167085	ENSG00000167085			8912	protein-coding gene	gene with protein product		176705				10376528, 8244394	Standard	NM_001281496		Approved	PHB1	uc002iox.1	P35232	OTTHUMG00000134271	ENST00000300408.3:c.606+1T>G	17.37:g.47484119A>C			B4DY47|Q4VBQ0	Splice_Site	SNP	-	e5+2	ENST00000300408.3	37	c.606+2	CCDS11548.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.73|19.73	3.881709|3.881709	0.72294|0.72294	.|.	.|.	ENSG00000167085|ENSG00000167085	ENST00000300408;ENST00000419140;ENST00000504124|ENST00000512041	.|.	.|.	.|.	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73552	.|0.3601	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77070	.|-0.2724	.|5	.|0.87932	.|D	.|0	.|.	13.3491|13.3491	0.60591|0.60591	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|G	-1|203	.|.	.|ENSP00000422182:V203G	.|V	-|-	.|2	.|0	PHB|PHB	44839118|44839118	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.917000|0.917000	0.54804|0.54804	9.175000|9.175000	0.94831|0.94831	2.038000|2.038000	0.60285|0.60285	0.528000|0.528000	0.53228|0.53228	.|GTG	PHB	-	-	ENSG00000167085		0.552	PHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHB	HGNC	protein_coding	OTTHUMT00000258826.1	189	0.00	0	A	NM_002634	Intron	47484119	47484119	-1	no_errors	ENST00000300408	ensembl	human	known	69_37n	splice_site	114	10.85	14	SNP	1.000	C
JADE2	23338	genome.wustl.edu	37	5	133896532	133896532	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:133896532A>G	ENST00000402835.1	+	6	824	c.569A>G	c.(568-570)gAg>gGg	p.E190G	PHF15_ENST00000361895.2_Missense_Mutation_p.E190G|PHF15_ENST00000395003.1_Missense_Mutation_p.E190G|PHF15_ENST00000282605.4_Missense_Mutation_p.E190G																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGACGCAGGAGGGGCTGGGC	0.597																																						dbGAP											0													163.0	126.0	139.0					5																	133896532		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000402835.1:c.569A>G	5.37:g.133896532A>G	ENSP00000384671:p.Glu190Gly			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.E206G	ENST00000402835.1	37	c.617		5	.	.	.	.	.	.	.	.	.	.	A	21.4	4.141327	0.77775	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	T;T;T;T;T	0.52295	0.67;0.71;0.73;0.71;1.29	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.69106	0.3074	M	0.75777	2.31	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.999;0.999;0.999	D;D;D;D;D	0.76071	0.987;0.971;0.987;0.987;0.987	T	0.72740	-0.4202	10	0.87932	D	0	.	15.6316	0.76912	1.0:0.0:0.0:0.0	.	190;190;190;190;206	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	G	190;206;190;190;190;190;190;190	ENSP00000282605:E190G;ENSP00000354425:E190G;ENSP00000384671:E190G;ENSP00000378451:E190G;ENSP00000406189:E190G	ENSP00000282605:E190G	E	+	2	0	PHF15	133924431	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	7.306000	0.78905	2.288000	0.76882	0.533000	0.62120	GAG	PHF15	-	superfamily_Znf_FYVE_PHD	ENSG00000043143		0.597	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	PHF15	HGNC	protein_coding	OTTHUMT00000318543.1	181	0.55	1	A			133896532	133896532	+1	no_errors	ENST00000448712	ensembl	human	known	69_37n	missense	121	13.48	19	SNP	1.000	G
JADE3	9767	genome.wustl.edu	37	X	46898407	46898407	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:46898407A>C	ENST00000218343.4	+	8	1210	c.912A>C	c.(910-912)ccA>ccC	p.P304P	PHF16_ENST00000397189.1_Silent_p.P304P	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCCACATCCCACCCAGTCGGT	0.502																																						dbGAP											0													132.0	114.0	120.0					X																	46898407		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000218343.4:c.912A>C	X.37:g.46898407A>C				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P304	ENST00000218343.4	37	c.912	CCDS14271.1	X																																																																																			PHF16	-	NULL	ENSG00000102221		0.502	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF16	HGNC	protein_coding	OTTHUMT00000056376.1	139	0.71	1	A			46898407	46898407	+1	no_errors	ENST00000218343	ensembl	human	known	69_37n	silent	169	19.72	42	SNP	0.016	C
JADE1	79960	genome.wustl.edu	37	4	129776883	129776883	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:129776883T>G	ENST00000226319.6	+	7	1075	c.795T>G	c.(793-795)ggT>ggG	p.G265G	PHF17_ENST00000511647.1_Silent_p.G265G|PHF17_ENST00000413543.2_Silent_p.G265G|PHF17_ENST00000452328.2_Silent_p.G253G|PHF17_ENST00000512960.1_Silent_p.G265G	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGAAGAAGGGTGGAGCTATGA	0.542																																						dbGAP											0													114.0	107.0	109.0					4																	129776883		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000226319.6:c.795T>G	4.37:g.129776883T>G				Silent	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G265	ENST00000226319.6	37	c.795	CCDS34062.1	4																																																																																			PHF17	-	superfamily_Znf_FYVE_PHD	ENSG00000077684		0.542	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	222	0.44	1	T			129776883	129776883	+1	no_errors	ENST00000226319	ensembl	human	known	69_37n	silent	149	12.35	21	SNP	0.047	G
JADE1	79960	genome.wustl.edu	37	4	129783115	129783115	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:129783115T>G	ENST00000226319.6	+	9	1518	c.1238T>G	c.(1237-1239)gTg>gGg	p.V413G	PHF17_ENST00000511647.1_Missense_Mutation_p.V413G|PHF17_ENST00000413543.2_Missense_Mutation_p.V413G|PHF17_ENST00000452328.2_Missense_Mutation_p.V401G|PHF17_ENST00000512960.1_Missense_Mutation_p.V413G	NM_199320.2	NP_955352.1														NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCCCACCGGGTGAGTGTCCGT	0.617																																						dbGAP											0													98.0	95.0	96.0					4																	129783115		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000226319.6:c.1238T>G	4.37:g.129783115T>G	ENSP00000226319:p.Val413Gly			Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.V413G	ENST00000226319.6	37	c.1238	CCDS34062.1	4	.	.	.	.	.	.	.	.	.	.	T	7.264	0.605683	0.14002	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.46063	0.99;0.88;1.0;0.99;0.88	5.01	3.79	0.43588	.	0.126859	0.52532	D	0.000061	T	0.26955	0.0660	N	0.24115	0.695	0.80722	D	1	B;B;B	0.25048	0.01;0.117;0.003	B;B;B	0.23716	0.011;0.048;0.011	T	0.04565	-1.0942	9	.	.	.	.	10.7404	0.46149	0.0:0.0:0.3061:0.6938	.	401;413;413	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	G	413;413;401;413;413;413	ENSP00000226319:V413G;ENSP00000423737:V413G;ENSP00000388015:V401G;ENSP00000425730:V413G;ENSP00000404211:V413G	.	V	+	2	0	PHF17	130002565	1.000000	0.71417	0.999000	0.59377	0.179000	0.23085	3.434000	0.52841	0.888000	0.36160	0.533000	0.62120	GTG	PHF17	-	NULL	ENSG00000077684		0.617	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHF17	HGNC	protein_coding	OTTHUMT00000364280.1	130	0.76	1	T			129783115	129783115	+1	no_errors	ENST00000226319	ensembl	human	known	69_37n	missense	89	17.59	19	SNP	1.000	G
PHF21A	51317	genome.wustl.edu	37	11	45967433	45967433	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:45967433T>G	ENST00000418153.2	-	14	1606	c.1407A>C	c.(1405-1407)gcA>gcC	p.A469A	PHF21A_ENST00000527753.1_Intron|PHF21A_ENST00000323180.6_Intron|PHF21A_ENST00000257821.4_Silent_p.A470A			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	469					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GCTGAACAGGTGCAGGGAAAG	0.517																																						dbGAP											0													97.0	115.0	109.0					11																	45967433		2161	4268	6429	-	-	-	SO:0001819	synonymous_variant	0			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.1407A>C	11.37:g.45967433T>G			D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A470	ENST00000418153.2	37	c.1410	CCDS44578.1	11																																																																																			PHF21A	-	NULL	ENSG00000135365		0.517	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	288	0.00	0	T	NM_016621		45967433	45967433	-1	no_errors	ENST00000257821	ensembl	human	known	69_37n	silent	233	13.06	35	SNP	1.000	G
PHKA1	5255	genome.wustl.edu	37	X	71855032	71855032	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:71855032T>G	ENST00000373542.4	-	16	1846	c.1687A>C	c.(1687-1689)Acc>Ccc	p.T563P	PHKA1_ENST00000541944.1_Missense_Mutation_p.T563P|PHKA1_ENST00000339490.3_Missense_Mutation_p.T563P|PHKA1_ENST00000373539.3_Missense_Mutation_p.T563P|PHKA1_ENST00000373545.3_Missense_Mutation_p.T563P	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	563					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ATGGGGAAGGTGATGGTGGGC	0.488																																						dbGAP											0													128.0	100.0	110.0					X																	71855032		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.1687A>C	X.37:g.71855032T>G	ENSP00000362643:p.Thr563Pro		B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.T563P	ENST00000373542.4	37	c.1687	CCDS14421.1	X	.	.	.	.	.	.	.	.	.	.	T	13.78	2.340666	0.41498	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.91996	-2.92;-2.95;-2.91;-2.93;-2.94	4.47	4.47	0.54385	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	M	0.91717	3.235	0.80722	D	1	D;P;D	0.89917	1.0;0.725;0.994	D;P;D	0.91635	0.999;0.452;0.974	D	0.96225	0.9163	10	0.52906	T	0.07	-2.5067	11.0389	0.47818	0.0:0.0:0.0:1.0	.	563;563;563	B7ZL07;P46020-2;P46020	.;.;KPB1_HUMAN	P	563	ENSP00000362646:T563P;ENSP00000362643:T563P;ENSP00000441251:T563P;ENSP00000342469:T563P;ENSP00000362640:T563P	ENSP00000342469:T563P	T	-	1	0	PHKA1	71771757	1.000000	0.71417	1.000000	0.80357	0.538000	0.34931	6.165000	0.71891	1.572000	0.49736	0.339000	0.21740	ACC	PHKA1	-	pfam_Glyco_hydro_15	ENSG00000067177		0.488	PHKA1-001	KNOWN	basic|CCDS	protein_coding	PHKA1	HGNC	protein_coding	OTTHUMT00000058896.1	179	0.00	0	T			71855032	71855032	-1	no_errors	ENST00000373539	ensembl	human	known	69_37n	missense	132	18.01	29	SNP	1.000	G
PHLDA1	22822	genome.wustl.edu	37	12	76424350	76424350	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:76424350T>G	ENST00000266671.5	-	1	3362	c.1172A>C	c.(1171-1173)cAc>cCc	p.H391P	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.H250P|RP11-290L1.2_ENST00000547721.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	391					apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				GAGAAGCCGGTGCCCgtgcgg	0.672																																						dbGAP											0													67.0	62.0	64.0					12																	76424350		2203	4299	6502	-	-	-	SO:0001583	missense	0			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"""proline-histidine rich protein"""	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.1172A>C	12.37:g.76424350T>G	ENSP00000266671:p.His391Pro		A1A4G9|Q15184|Q2TAN2|Q9NZ17	Missense_Mutation	SNP	smart_Pleckstrin_homology	p.H391P	ENST00000266671.5	37	c.1172	CCDS31861.1	12	.	.	.	.	.	.	.	.	.	.	T	17.10	3.302530	0.60195	.	.	ENSG00000139289	ENST00000266671;ENST00000421361	T	0.78126	-1.15	4.92	4.92	0.64577	.	0.145674	0.45867	D	0.000335	T	0.76800	0.4038	L	0.34521	1.04	0.34898	D	0.74623	D	0.53745	0.962	P	0.54924	0.764	D	0.83999	0.0342	10	0.87932	D	0	-20.983	10.8795	0.46929	0.0:0.0:0.0:1.0	.	391	Q8WV24	PHLA1_HUMAN	P	391;209	ENSP00000266671:H391P	ENSP00000266671:H391P	H	-	2	0	PHLDA1	74710617	0.982000	0.34865	1.000000	0.80357	0.969000	0.65631	0.464000	0.21988	2.080000	0.62538	0.459000	0.35465	CAC	PHLDA1	-	NULL	ENSG00000139289		0.672	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHLDA1	HGNC	protein_coding	OTTHUMT00000405846.2	320	0.61	2	T	NM_007350		76424350	76424350	-1	no_errors	ENST00000266671	ensembl	human	known	69_37n	missense	312	10.51	37	SNP	1.000	G
PHLPP2	23035	genome.wustl.edu	37	16	71712726	71712726	+	Silent	SNP	T	T	C	rs376064488		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:71712726T>C	ENST00000568954.1	-	8	1578	c.1200A>G	c.(1198-1200)ggA>ggG	p.G400G	PHLPP2_ENST00000393524.2_Silent_p.G400G|PHLPP2_ENST00000356272.3_Silent_p.G400G|PHLPP2_ENST00000567016.1_Silent_p.G435G|PHLPP2_ENST00000360429.3_Silent_p.G400G			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	400					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CCAGGCAATTTCCTGCCATAA	0.393																																						dbGAP											0													89.0	88.0	88.0					16																	71712726		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1200A>G	16.37:g.71712726T>C			A1L374|Q9NV17|Q9Y2E3	Silent	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like	p.G400	ENST00000568954.1	37	c.1200	CCDS32479.1	16																																																																																			PHLPP2	-	NULL	ENSG00000040199		0.393	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	113	0.00	0	T	NM_015020		71712726	71712726	-1	no_errors	ENST00000356272	ensembl	human	known	69_37n	silent	84	26.96	31	SNP	1.000	C
PHLPP2	23035	genome.wustl.edu	37	16	71748603	71748603	+	Missense_Mutation	SNP	A	A	C	rs77259426		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:71748603A>C	ENST00000568954.1	-	2	474	c.96T>G	c.(94-96)tgT>tgG	p.C32W	PHLPP2_ENST00000393524.2_Missense_Mutation_p.C32W|PHLPP2_ENST00000356272.3_Missense_Mutation_p.C32W|PHLPP2_ENST00000567016.1_Missense_Mutation_p.C67W|PHLPP2_ENST00000360429.3_Missense_Mutation_p.C32W			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	32					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AAAGGTAAACACAGCCTCTCT	0.463																																						dbGAP											0													226.0	150.0	175.0					16																	71748603		2198	4300	6498	-	-	-	SO:0001583	missense	0			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.96T>G	16.37:g.71748603A>C	ENSP00000457991:p.Cys32Trp		A1L374|Q9NV17|Q9Y2E3	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like	p.C32W	ENST00000568954.1	37	c.96	CCDS32479.1	16	.	.	.	.	.	.	.	.	.	.	A	14.45	2.539040	0.45176	.	.	ENSG00000040199	ENST00000360429;ENST00000356272;ENST00000393524;ENST00000538126	T;T;T	0.47177	1.29;1.32;0.85	5.67	2.15	0.27550	.	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	L	0.51422	1.61	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.56062	-0.8041	10	0.87932	D	0	-9.0398	9.3868	0.38347	0.6354:0.0:0.3646:0.0	.	32;32	Q6ZVD8-3;Q6ZVD8	.;PHLP2_HUMAN	W	32	ENSP00000353610:C32W;ENSP00000348611:C32W;ENSP00000377159:C32W	ENSP00000348611:C32W	C	-	3	2	PHLPP2	70306104	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	0.830000	0.27462	0.087000	0.17167	0.533000	0.62120	TGT	PHLPP2	-	NULL	ENSG00000040199		0.463	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	281	0.70	2	A	NM_015020		71748603	71748603	-1	no_errors	ENST00000356272	ensembl	human	known	69_37n	missense	176	10.66	21	SNP	0.997	C
PHRF1	57661	genome.wustl.edu	37	11	609477	609477	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:609477A>C	ENST00000264555.5	+	14	4149	c.4021A>C	c.(4021-4023)Acc>Ccc	p.T1341P	PHRF1_ENST00000416188.2_Missense_Mutation_p.T1340P|PHRF1_ENST00000533464.1_Missense_Mutation_p.T1337P|PHRF1_ENST00000413872.2_Missense_Mutation_p.T1339P	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1341					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCAGAGGGCACCCAGGAGCC	0.677																																						dbGAP											0													16.0	21.0	19.0					11																	609477		2009	4156	6165	-	-	-	SO:0001583	missense	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4021A>C	11.37:g.609477A>C	ENSP00000264555:p.Thr1341Pro		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.T1341P	ENST00000264555.5	37	c.4021		11	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402603	0.25291	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.26	5.26	0.73747	.	0.633338	0.13202	N	0.405933	T	0.48995	0.1531	N	0.01168	-0.975	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.15752	-1.0426	10	0.02654	T	1	-6.0839	13.4517	0.61174	0.1573:0.8427:0.0:0.0	.	1337;1339;1340;1341	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	P	1341;1339;1340;1337	ENSP00000264555:T1341P;ENSP00000388589:T1339P;ENSP00000410626:T1340P;ENSP00000431870:T1337P	ENSP00000264555:T1341P	T	+	1	0	PHRF1	599477	0.000000	0.05858	0.009000	0.14445	0.022000	0.10575	1.093000	0.30939	1.256000	0.44068	-0.217000	0.12591	ACC	PHRF1	-	NULL	ENSG00000070047		0.677	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	34	0.00	0	A	NM_020901		609477	609477	+1	no_errors	ENST00000264555	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	0.115	C
PI4KA	5297	genome.wustl.edu	37	22	21119462	21119462	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:21119462T>G	ENST00000572273.1	-	21	2556	c.2326A>C	c.(2326-2328)Acc>Ccc	p.T776P	PI4KA_ENST00000255882.6_Missense_Mutation_p.T834P|PI4KA_ENST00000466162.1_5'UTR			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	776					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGGGAAAGGTGAGCAAGGGG	0.498																																					GBM(136;1332 1831 3115 23601 50806)	dbGAP											0													135.0	137.0	137.0					22																	21119462		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2326A>C	22.37:g.21119462T>G	ENSP00000458238:p.Thr776Pro		Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.T834P	ENST00000572273.1	37	c.2500		22	.	.	.	.	.	.	.	.	.	.	T	33	5.211713	0.95069	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.64713	0.2623	L	0.38175	1.15	0.80722	D	1	D	0.61080	0.989	P	0.58331	0.837	T	0.67715	-0.5599	9	0.72032	D	0.01	-45.2312	16.2389	0.82396	0.0:0.0:0.0:1.0	.	776	P42356	PI4KA_HUMAN	P	776	.	ENSP00000255882:T776P	T	-	1	0	PI4KA	19449462	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.925000	0.87563	2.236000	0.73375	0.528000	0.53228	ACC	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.498	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		141	0.00	0	T	NM_058004		21119462	21119462	-1	no_errors	ENST00000255882	ensembl	human	known	69_37n	missense	85	13.27	13	SNP	1.000	G
PIAS3	10401	genome.wustl.edu	37	1	145578473	145578473	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:145578473A>C	ENST00000393045.2	+	2	526	c.436A>C	c.(436-438)Acc>Ccc	p.T146P	PIAS3_ENST00000369299.3_Missense_Mutation_p.T137P|PIAS3_ENST00000369298.1_Missense_Mutation_p.T111P	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	146	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCGGCCCACCACCCTTGGTAT	0.547																																						dbGAP											0													102.0	104.0	103.0					1																	145578473		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.436A>C	1.37:g.145578473A>C	ENSP00000376765:p.Thr146Pro		Q9UFI3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.T146P	ENST00000393045.2	37	c.436	CCDS920.2	1	.	.	.	.	.	.	.	.	.	.	A	17.88	3.497983	0.64186	.	.	ENSG00000131788	ENST00000393046;ENST00000369299;ENST00000393045;ENST00000369298	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	3.79	3.79	0.43588	PINIT domain (1);	0.281258	0.25045	N	0.033565	T	0.28732	0.0712	L	0.29908	0.895	0.47547	D	0.999453	B;P	0.48998	0.021;0.918	B;P	0.51777	0.039;0.679	T	0.12941	-1.0528	10	0.72032	D	0.01	-12.1895	10.545	0.45056	1.0:0.0:0.0:0.0	.	137;146	F8WA94;Q9Y6X2	.;PIAS3_HUMAN	P	137;137;146;111	ENSP00000376766:T137P;ENSP00000358305:T137P;ENSP00000376765:T146P;ENSP00000358304:T111P	ENSP00000358304:T111P	T	+	1	0	PIAS3	144289830	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.302000	0.78861	1.584000	0.49913	0.459000	0.35465	ACC	PIAS3	-	NULL	ENSG00000131788		0.547	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	HGNC	protein_coding	OTTHUMT00000038533.4	171	0.57	1	A	NM_006099		145578473	145578473	+1	no_errors	ENST00000393045	ensembl	human	known	69_37n	missense	247	10.11	28	SNP	1.000	C
PIAS3	10401	genome.wustl.edu	37	1	145585438	145585438	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:145585438A>C	ENST00000393045.2	+	14	1793	c.1703A>C	c.(1702-1704)cAc>cCc	p.H568P	NUDT17_ENST00000444015.2_5'Flank|PIAS3_ENST00000369298.1_Missense_Mutation_p.H533P	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	568					positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCCCTTCTCACTTTCTGGGC	0.642																																						dbGAP											0													71.0	76.0	74.0					1																	145585438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.1703A>C	1.37:g.145585438A>C	ENSP00000376765:p.His568Pro		Q9UFI3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.H568P	ENST00000393045.2	37	c.1703	CCDS920.2	1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169751	0.57584	.	.	ENSG00000131788	ENST00000393045;ENST00000369298	T;T	0.30714	1.53;1.52	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000002	T	0.32224	0.0822	L	0.36672	1.1	0.80722	D	1	D	0.57571	0.98	D	0.64321	0.924	T	0.11084	-1.0602	10	0.62326	D	0.03	-14.7211	12.9634	0.58472	1.0:0.0:0.0:0.0	.	568	Q9Y6X2	PIAS3_HUMAN	P	568;533	ENSP00000376765:H568P;ENSP00000358304:H533P	ENSP00000358304:H533P	H	+	2	0	PIAS3	144296795	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.046000	0.49846	2.164000	0.68074	0.459000	0.35465	CAC	PIAS3	-	NULL	ENSG00000131788		0.642	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS3	HGNC	protein_coding	OTTHUMT00000038533.4	49	0.00	0	A	NM_006099		145585438	145585438	+1	no_errors	ENST00000393045	ensembl	human	known	69_37n	missense	108	16.28	21	SNP	1.000	C
PI4KB	5298	genome.wustl.edu	37	1	151274374	151274374	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:151274374A>C	ENST00000368873.1	-	8	1863	c.1695T>G	c.(1693-1695)tgT>tgG	p.C565W	PI4KB_ENST00000368872.1_Missense_Mutation_p.C550W|RN7SL444P_ENST00000578948.1_RNA|PI4KB_ENST00000529142.1_Missense_Mutation_p.C233W|PI4KB_ENST00000368875.2_Missense_Mutation_p.C577W|PI4KB_ENST00000271657.5_Missense_Mutation_p.C577W|PI4KB_ENST00000368874.4_Missense_Mutation_p.C550W			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	565	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269, ECO:0000305}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTCATCCCCACACTTGACAA	0.552																																					Colon(154;765 1838 9854 28443 37492)	dbGAP											0													59.0	64.0	63.0					1																	151274374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1695T>G	1.37:g.151274374A>C	ENSP00000357867:p.Cys565Trp		B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.C577W	ENST00000368873.1	37	c.1731		1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.691480	0.48097	.	.	ENSG00000143393	ENST00000368874;ENST00000368875;ENST00000271657;ENST00000368873;ENST00000529142;ENST00000368872	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	4.96	2.54	0.30619	Protein kinase-like domain (1);Phosphatidylinositol 3/4-kinase, conserved site (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.83953	2.67	0.80722	D	1	B;P;B	0.39443	0.248;0.674;0.326	B;B;B	0.36959	0.225;0.237;0.214	T	0.63079	-0.6717	10	0.87932	D	0	-6.8063	6.8886	0.24216	0.702:0.0:0.298:0.0	.	565;550;233	Q9UBF8;Q9UBF8-2;Q9UBF8-3	PI4KB_HUMAN;.;.	W	550;577;577;565;233;550	ENSP00000357868:C550W;ENSP00000357869:C577W;ENSP00000271657:C577W;ENSP00000357867:C565W;ENSP00000433149:C233W;ENSP00000357866:C550W	ENSP00000271657:C577W	C	-	3	2	PI4KB	149540998	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.470000	0.35354	0.342000	0.23796	0.379000	0.24179	TGT	PI4KB	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000143393		0.552	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	HGNC	protein_coding	OTTHUMT00000034400.3	125	0.79	1	A	NM_002651		151274374	151274374	-1	no_errors	ENST00000271657	ensembl	human	known	69_37n	missense	159	12.64	23	SNP	1.000	C
PIH1D1	55011	genome.wustl.edu	37	19	49952841	49952841	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:49952841A>G	ENST00000262265.5	-	3	463	c.228T>C	c.(226-228)ccT>ccC	p.P76P	PIH1D1_ENST00000596049.1_Silent_p.P76P|PIH1D1_ENST00000602226.1_5'Flank	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	76					box C/D snoRNP assembly (GO:0000492)|epithelial cell differentiation (GO:0030855)	pre-snoRNP complex (GO:0070761)				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CGGCGGGAGGAGGGATAGAGG	0.557																																						dbGAP											0													113.0	103.0	107.0					19																	49952841		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000650	CCDS12765.1	19q13.33	2012-07-18	2007-01-31	2007-01-31	ENSG00000104872	ENSG00000104872			26075	protein-coding gene	gene with protein product		611480		NOP17		12477932	Standard	NM_017916		Approved	FLJ20643	uc002pns.2	Q9NWS0		ENST00000262265.5:c.228T>C	19.37:g.49952841A>G			B4DGN7|B4E2X7|Q9BVL0	Silent	SNP	NULL	p.P76	ENST00000262265.5	37	c.228	CCDS12765.1	19																																																																																			PIH1D1	-	NULL	ENSG00000104872		0.557	PIH1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIH1D1	HGNC	protein_coding	OTTHUMT00000465389.2	207	0.00	0	A	NM_017916		49952841	49952841	-1	no_errors	ENST00000262265	ensembl	human	known	69_37n	silent	138	16.77	28	SNP	0.926	G
PIK3AP1	118788	genome.wustl.edu	37	10	98363713	98363713	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:98363713T>G	ENST00000339364.5	-	15	2361				PIK3AP1_ENST00000371110.2_Intron|PIK3AP1_ENST00000371109.3_Intron	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1						negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ACAGGATAGGTGGGGTGGAGT	0.522																																						dbGAP											0													43.0	39.0	40.0					10																	98363713		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.2241+22A>C	10.37:g.98363713T>G			Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	RNA	SNP	-	NULL	ENST00000339364.5	37	NULL	CCDS31259.1	10																																																																																			PIK3AP1	-	-	ENSG00000155629		0.522	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	159	0.00	0	T	NM_152309		98363713	98363713	-1	no_errors	ENST00000489982	ensembl	human	known	69_37n	rna	96	21.31	26	SNP	0.000	G
PIK3C2B	5287	genome.wustl.edu	37	1	204409335	204409335	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:204409335T>G	ENST00000367187.3	-	23	3920	c.3364A>C	c.(3364-3366)Acc>Ccc	p.T1122P	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.T1094P	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1122	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCCCGGCCGGTGGAGAAGCAG	0.582																																						dbGAP											0													111.0	96.0	101.0					1																	204409335		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3364A>C	1.37:g.204409335T>G	ENSP00000356155:p.Thr1122Pro		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.T1122P	ENST00000367187.3	37	c.3364	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.868388	0.91587	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	D;D	0.83163	-1.69;-1.69	6.06	6.06	0.98353	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.94624	0.8267	H	0.97918	4.105	0.52099	D	0.999944	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.955	D	0.96470	0.9348	10	0.87932	D	0	.	16.2741	0.82634	0.0:0.0:0.0:1.0	.	1094;1122	F5GWN5;O00750	.;P3C2B_HUMAN	P	1122;1094	ENSP00000356155:T1122P;ENSP00000400561:T1094P	ENSP00000356155:T1122P	T	-	1	0	PIK3C2B	202675958	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	6.306000	0.72810	2.322000	0.78497	0.528000	0.53228	ACC	PIK3C2B	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000133056		0.582	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	124	0.00	0	T	NM_002646		204409335	204409335	-1	no_errors	ENST00000367187	ensembl	human	known	69_37n	missense	195	12.89	29	SNP	1.000	G
PIK3CB	5291	genome.wustl.edu	37	3	138382746	138382746	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:138382746A>C	ENST00000477593.1	-	20	2870		c.e20+1		PIK3CB_ENST00000544716.1_Splice_Site|PIK3CB_ENST00000289153.2_Splice_Site			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta						activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|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)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	GGAGCAGCTCACCTGGCCAGT	0.433																																						dbGAP											0													105.0	99.0	101.0					3																	138382746		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2796+1T>G	3.37:g.138382746A>C			D3DNF0|Q24JU2	Splice_Site	SNP	-	e19+2	ENST00000477593.1	37	c.2796+2	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	A	20.4	3.989401	0.74589	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000493568;ENST00000289153	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3979	0.83621	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIK3CB	139865436	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	9.287000	0.95975	2.333000	0.79357	0.533000	0.62120	.	PIK3CB	-	-	ENSG00000051382		0.433	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	91	0.00	0	A		Intron	138382746	138382746	-1	no_errors	ENST00000289153	ensembl	human	known	69_37n	splice_site	138	12.03	19	SNP	1.000	C
PIK3CD	5293	genome.wustl.edu	37	1	9770527	9770527	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:9770527T>G	ENST00000377346.4	+	3	209	c.14T>G	c.(13-15)gTg>gGg	p.V5G	PIK3CD_ENST00000536656.1_Missense_Mutation_p.V5G|PIK3CD_ENST00000361110.2_Missense_Mutation_p.V5G	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	5					adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|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)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCCCCTGGGGTGGACTGCCCC	0.532																																						dbGAP											0													154.0	143.0	147.0					1																	9770527		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.14T>G	1.37:g.9770527T>G	ENSP00000366563:p.Val5Gly		A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-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.V5G	ENST00000377346.4	37	c.14	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.572591	0.65765	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.68479	-0.33;-0.31;-0.33	5.42	5.42	0.78866	.	0.364359	0.29783	N	0.011218	T	0.55847	0.1946	N	0.22421	0.69	0.80722	D	1	B;P;P	0.41420	0.417;0.749;0.616	B;B;B	0.41412	0.254;0.356;0.254	T	0.59423	-0.7457	10	0.45353	T	0.12	-17.9529	13.9797	0.64297	0.0:0.0:0.0:1.0	.	5;5;5	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	G	5	ENSP00000446444:V5G;ENSP00000366563:V5G;ENSP00000354410:V5G	ENSP00000353766:V5G	V	+	2	0	PIK3CD	9693114	1.000000	0.71417	0.990000	0.47175	0.993000	0.82548	4.471000	0.60182	2.179000	0.69175	0.460000	0.39030	GTG	PIK3CD	-	NULL	ENSG00000171608		0.532	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	127	0.77	1	T	NM_005026		9770527	9770527	+1	no_errors	ENST00000536656	ensembl	human	known	69_37n	missense	98	14.53	17	SNP	0.949	G
PIK3R5	23533	genome.wustl.edu	37	17	8790438	8790438	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:8790438T>G	ENST00000447110.1	-	12	2004	c.1880A>C	c.(1879-1881)cAc>cCc	p.H627P	PIK3R5_ENST00000584803.1_Missense_Mutation_p.H627P|PIK3R5_ENST00000581552.1_Missense_Mutation_p.H627P	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	627					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						AGGGGGCAGGTGCATGAGGCC	0.612																																					NSCLC(18;589 615 7696 20311 50332)	dbGAP											0													118.0	88.0	98.0					17																	8790438		2203	4300	6503	-	-	-	SO:0001583	missense	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.1880A>C	17.37:g.8790438T>G	ENSP00000392812:p.His627Pro		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.H627P	ENST00000447110.1	37	c.1880	CCDS11147.1	17	.	.	.	.	.	.	.	.	.	.	T	13.33	2.205678	0.39003	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77098	-1.07	4.68	4.68	0.58851	.	0.283049	0.39083	N	0.001478	T	0.66336	0.2779	N	0.24115	0.695	0.37352	D	0.910837	B	0.32071	0.355	B	0.34536	0.185	T	0.68550	-0.5379	10	0.29301	T	0.29	-26.688	14.0734	0.64874	0.0:0.0:0.0:1.0	.	627	Q8WYR1	PI3R5_HUMAN	P	627	ENSP00000392812:H627P	ENSP00000269300:H627P	H	-	2	0	PIK3R5	8731163	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	4.718000	0.61930	1.864000	0.54056	0.459000	0.35465	CAC	PIK3R5	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000141506		0.612	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIK3R5	HGNC	protein_coding	OTTHUMT00000227003.2	127	0.76	1	T	NM_014308		8790438	8790438	-1	no_errors	ENST00000447110	ensembl	human	known	69_37n	missense	77	18.09	17	SNP	1.000	G
PIK3R5	23533	genome.wustl.edu	37	17	8794089	8794089	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:8794089T>G	ENST00000447110.1	-	7	747	c.623A>C	c.(622-624)cAc>cCc	p.H208P	PIK3R5_ENST00000584803.1_Missense_Mutation_p.H208P|PIK3R5_ENST00000581552.1_Missense_Mutation_p.H208P	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	208					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						GACGTCACAGTGGGCCCCAAA	0.632																																					NSCLC(18;589 615 7696 20311 50332)	dbGAP											0													85.0	73.0	77.0					17																	8794089		2203	4300	6503	-	-	-	SO:0001583	missense	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.623A>C	17.37:g.8794089T>G	ENSP00000392812:p.His208Pro		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	pfam_PI3K_1B_gamma_p101_su	p.H208P	ENST00000447110.1	37	c.623	CCDS11147.1	17	.	.	.	.	.	.	.	.	.	.	T	11.55	1.672953	0.29693	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.77750	-1.12	5.24	2.93	0.34026	.	0.516257	0.22400	N	0.060559	T	0.62221	0.2410	N	0.24115	0.695	0.27299	N	0.95763	P	0.44986	0.847	B	0.43623	0.425	T	0.53056	-0.8492	10	0.26408	T	0.33	-18.5124	5.9782	0.19393	0.0:0.312:0.0:0.688	.	208	Q8WYR1	PI3R5_HUMAN	P	208	ENSP00000392812:H208P	ENSP00000269300:H208P	H	-	2	0	PIK3R5	8734814	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	1.698000	0.37794	0.835000	0.34877	0.454000	0.30748	CAC	PIK3R5	-	pfam_PI3K_1B_gamma_p101_su	ENSG00000141506		0.632	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PIK3R5	HGNC	protein_coding	OTTHUMT00000227003.2	175	0.00	0	T	NM_014308		8794089	8794089	-1	no_errors	ENST00000447110	ensembl	human	known	69_37n	missense	70	14.46	12	SNP	0.981	G
PILRB	29990	genome.wustl.edu	37	7	99956696	99956696	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:99956696A>C	ENST00000452089.1	+	7	1507	c.448A>C	c.(448-450)Acc>Ccc	p.T150P	PILRB_ENST00000444073.1_Missense_Mutation_p.T150P|PILRB_ENST00000448382.1_Missense_Mutation_p.H202P|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000610247.1_Missense_Mutation_p.T150P|PILRB_ENST00000609309.1_Missense_Mutation_p.T150P			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	150					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTCACCATCACCCAGGGTGA	0.562																																						dbGAP											0													51.0	50.0	50.0					7																	99956696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.448A>C	7.37:g.99956696A>C	ENSP00000391748:p.Thr150Pro		Q69YF9|Q9HBS0	Missense_Mutation	SNP	NULL	p.H202P	ENST00000452089.1	37	c.605	CCDS43622.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.08|13.08	2.128882|2.128882	0.37533|0.37533	.|.	.|.	ENSG00000121716|ENSG00000121716	ENST00000444874;ENST00000448382|ENST00000310771;ENST00000420688;ENST00000452089;ENST00000444073;ENST00000413850	.|T;T;T	.|0.25579	.|1.79;1.79;1.79	2.5|2.5	1.22|1.22	0.21188|0.21188	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.284492	.|0.25529	.|N	.|0.030058	T|T	0.37210|0.37210	0.0995|0.0995	M|M	0.64170|0.64170	1.965|1.965	0.09310|0.09310	N|N	1|1	D|D	0.62365|0.69078	0.991|0.997	P|D	0.62184|0.63597	0.899|0.916	T|T	0.10941|0.10941	-1.0608|-1.0608	7|9	.|.	.|.	.|.	.|.	4.9237|4.9237	0.13883|0.13883	0.7298:0.0:0.0:0.2702|0.7298:0.0:0.0:0.2702	.|.	80|150	Q9UKJ0-2|Q9UKJ0	.|PILRB_HUMAN	P|P	80;202|150;150;150;150;255	.|ENSP00000311153:T150P;ENSP00000391748:T150P;ENSP00000410764:T150P	.|.	H|T	+|+	2|1	0|0	PILRB|PILRB	99794632|99794632	0.051000|0.051000	0.20477|0.20477	0.002000|0.002000	0.10522|0.10522	0.005000|0.005000	0.04900|0.04900	1.789000|1.789000	0.38724|0.38724	0.139000|0.139000	0.18822|0.18822	0.491000|0.491000	0.48974|0.48974	CAC|ACC	PILRB	-	NULL	ENSG00000121716		0.562	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding	OTTHUMT00000339923.2	105	0.93	1	A	NM_178238		99956696	99956696	+1	no_errors	ENST00000448382	ensembl	human	known	69_37n	missense	40	28.57	16	SNP	0.010	C
PILRA	29992	genome.wustl.edu	37	7	99997475	99997475	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:99997475A>C	ENST00000198536.2	+	7	1069	c.857A>C	c.(856-858)cAc>cCc	p.H286P	PILRA_ENST00000453419.1_Silent_p.P200P|PILRA_ENST00000394000.2_3'UTR|PILRA_ENST00000350573.2_Missense_Mutation_p.H213P	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	286					signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCCAGCCACCGTCCCCTC	0.577																																						dbGAP											0													153.0	137.0	143.0					7																	99997475		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.857A>C	7.37:g.99997475A>C	ENSP00000198536:p.His286Pro		Q8NHI1	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.H286P	ENST00000198536.2	37	c.857	CCDS5691.1	7	.	.	.	.	.	.	.	.	.	.	A	10.13	1.264520	0.23136	.	.	ENSG00000085514	ENST00000198536;ENST00000350573	T;T	0.39229	1.09;1.09	5.24	-5.56	0.02529	.	1.838390	0.03144	N	0.166933	T	0.15565	0.0375	N	0.01705	-0.755	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.19289	-1.0310	9	.	.	.	.	8.0069	0.30329	0.2231:0.5643:0.0:0.2127	.	213;286	Q9UKJ1-3;Q9UKJ1	.;PILRA_HUMAN	P	286;213	ENSP00000198536:H286P;ENSP00000340109:H213P	.	H	+	2	0	PILRA	99835411	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.281000	0.02802	-0.602000	0.05775	0.528000	0.53228	CAC	PILRA	-	NULL	ENSG00000085514		0.577	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRA	HGNC	protein_coding	OTTHUMT00000339016.1	172	0.00	0	A	NM_013439		99997475	99997475	+1	no_errors	ENST00000198536	ensembl	human	known	69_37n	missense	145	13.69	23	SNP	0.000	C
PIM2	11040	genome.wustl.edu	37	X	48771452	48771452	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:48771452A>G	ENST00000376509.4	-	6	1081	c.892T>C	c.(892-894)Tcc>Ccc	p.S298P	SLC35A2_ENST00000452555.2_5'Flank|SLC35A2_ENST00000247138.5_5'Flank|SLC35A2_ENST00000376529.3_5'Flank|PIM2_ENST00000485431.1_5'UTR|SLC35A2_ENST00000376512.1_5'Flank|SLC35A2_ENST00000376515.3_5'Flank|SLC35A2_ENST00000445167.2_5'Flank|SLC35A2_ENST00000413561.2_5'Flank|SLC35A2_ENST00000376521.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	298					apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						CCTCCTTTGGAGGGGTTGAGG	0.637																																						dbGAP											0													25.0	21.0	22.0					X																	48771452		2162	4244	6406	-	-	-	SO:0001583	missense	0			U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.892T>C	X.37:g.48771452A>G	ENSP00000365692:p.Ser298Pro		A8K4G6|Q99739	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S298P	ENST00000376509.4	37	c.892	CCDS14312.1	X	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.736997	0.00681	.	.	ENSG00000102096	ENST00000376509	T	0.69435	-0.4	4.6	-1.92	0.07618	.	1.403590	0.04278	N	0.343370	T	0.49201	0.1543	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16453	-1.0402	10	0.36615	T	0.2	.	1.9309	0.03327	0.47:0.1342:0.258:0.1378	.	298	Q9P1W9	PIM2_HUMAN	P	298	ENSP00000365692:S298P	ENSP00000365692:S298P	S	-	1	0	PIM2	48656396	0.137000	0.22531	0.001000	0.08648	0.010000	0.07245	0.049000	0.14099	-0.491000	0.06697	-0.869000	0.02991	TCC	PIM2	-	NULL	ENSG00000102096		0.637	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	HGNC	protein_coding	OTTHUMT00000060805.1	98	0.98	1	A			48771452	48771452	-1	no_errors	ENST00000376509	ensembl	human	known	69_37n	missense	101	15.83	19	SNP	0.000	G
PIM2	11040	genome.wustl.edu	37	X	48771839	48771839	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:48771839A>C	ENST00000376509.4	-	5	794	c.605T>G	c.(604-606)gTg>gGg	p.V202G	SLC35A2_ENST00000452555.2_5'Flank|SLC35A2_ENST00000247138.5_5'Flank|SLC35A2_ENST00000376529.3_5'Flank|PIM2_ENST00000485431.1_5'UTR|SLC35A2_ENST00000376512.1_5'Flank|SLC35A2_ENST00000376515.3_5'Flank|SLC35A2_ENST00000445167.2_5'Flank|SLC35A2_ENST00000413561.2_5'Flank|SLC35A2_ENST00000376521.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	202	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						GGGGCTGTACACCCTTGTCCC	0.562																																						dbGAP											0													59.0	44.0	49.0					X																	48771839		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.605T>G	X.37:g.48771839A>C	ENSP00000365692:p.Val202Gly		A8K4G6|Q99739	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V202G	ENST00000376509.4	37	c.605	CCDS14312.1	X	.	.	.	.	.	.	.	.	.	.	A	18.53	3.642906	0.67244	.	.	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.64618	-0.11;-0.11	5.3	5.3	0.74995	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	0.000003	T	0.56108	0.1963	N	0.02708	-0.52	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	T	0.63834	-0.6547	10	0.33141	T	0.24	.	13.2293	0.59933	1.0:0.0:0.0:0.0	.	202	Q9P1W9	PIM2_HUMAN	G	202;90	ENSP00000365692:V202G;ENSP00000410960:V90G	ENSP00000365692:V202G	V	-	2	0	PIM2	48656783	1.000000	0.71417	0.998000	0.56505	0.821000	0.46438	8.962000	0.93254	1.765000	0.52091	0.486000	0.48141	GTG	PIM2	-	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	ENSG00000102096		0.562	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	HGNC	protein_coding	OTTHUMT00000060805.1	109	0.91	1	A			48771839	48771839	-1	no_errors	ENST00000376509	ensembl	human	known	69_37n	missense	33	25.00	12	SNP	0.998	C
PIP	5304	genome.wustl.edu	37	7	142829249	142829249	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:142829249A>C	ENST00000291009.3	+	1	80	c.40A>C	c.(40-42)Acc>Ccc	p.T14P		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	14					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		CAGCCCTGCCACCCTGCTCCT	0.577																																						dbGAP											0													213.0	205.0	208.0					7																	142829249		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.40A>C	7.37:g.142829249A>C	ENSP00000291009:p.Thr14Pro		A0A963|A0A9C3|A0A9F3|A4D2I1	Missense_Mutation	SNP	pfam_SV_autoAg,pirsf_SV_autoAg	p.T14P	ENST00000291009.3	37	c.40	CCDS34768.1	7	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481124	0.44147	.	.	ENSG00000159763	ENST00000291009	.	.	.	4.36	-8.72	0.00845	.	1.521870	0.04221	N	0.333589	T	0.44265	0.1285	L	0.43152	1.355	0.09310	N	1	D	0.55172	0.97	P	0.53518	0.728	T	0.61505	-0.7049	9	0.51188	T	0.08	.	11.75	0.51843	0.1627:0.0:0.7206:0.1167	.	14	P12273	PIP_HUMAN	P	14	.	ENSP00000291009:T14P	T	+	1	0	PIP	142539371	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-2.017000	0.01445	-2.365000	0.00606	-1.039000	0.02377	ACC	PIP	-	pfam_SV_autoAg,pirsf_SV_autoAg	ENSG00000159763		0.577	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP	HGNC	protein_coding	OTTHUMT00000327089.1	76	0.00	0	A	NM_002652		142829249	142829249	+1	no_errors	ENST00000291009	ensembl	human	known	69_37n	missense	51	17.74	11	SNP	0.000	C
PIP4K2C	79837	genome.wustl.edu	37	12	57987893	57987893	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:57987893A>C	ENST00000354947.5	+	2	276	c.260A>C	c.(259-261)cAc>cCc	p.H87P	PIP4K2C_ENST00000550465.1_Intron|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.H87P|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.H87P			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	87	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GTCAACAATCACCTTTTCCAC	0.433																																						dbGAP											0													109.0	92.0	98.0					12																	57987893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.260A>C	12.37:g.57987893A>C	ENSP00000347032:p.His87Pro		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.H87P	ENST00000354947.5	37	c.260	CCDS8946.1	12	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645692	0.67358	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000436866;ENST00000551772;ENST00000354947	T;T;T;T	0.44083	1.65;1.65;0.93;1.65	4.62	4.62	0.57501	Phosphatidylinositol-4-phosphate 5-kinase, core (1);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.110699	0.64402	D	0.000013	T	0.64692	0.2621	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	T	0.65713	-0.6101	10	0.32370	T	0.25	-12.9471	13.438	0.61094	1.0:0.0:0.0:0.0	.	87;87	B4DM11;Q8TBX8	.;PI42C_HUMAN	P	87;87;87;66;87	ENSP00000412035:H87P;ENSP00000439878:H87P;ENSP00000450197:H66P;ENSP00000347032:H87P	ENSP00000347032:H87P	H	+	2	0	PIP4K2C	56274160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.107000	0.94261	2.071000	0.62044	0.460000	0.39030	CAC	PIP4K2C	-	smart_PInositol-4P-5-kinase_core_sub	ENSG00000166908		0.433	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP4K2C	HGNC	protein_coding	OTTHUMT00000407644.1	120	0.00	0	A	NM_024779		57987893	57987893	+1	no_errors	ENST00000354947	ensembl	human	known	69_37n	missense	105	21.05	28	SNP	1.000	C
PIPOX	51268	genome.wustl.edu	37	17	27381663	27381663	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:27381663A>C	ENST00000323372.4	+	5	1087	c.761A>C	c.(760-762)cAc>cCc	p.H254P	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	254					L-lysine catabolic process to acetyl-CoA via L-pipecolate (GO:0033514)|oxidation-reduction process (GO:0055114)|tetrahydrofolate metabolic process (GO:0046653)	peroxisome (GO:0005777)	L-pipecolate oxidase activity (GO:0050031)|receptor binding (GO:0005102)|sarcosine oxidase activity (GO:0008115)			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TTGTGTCCCCACCACATCTAC	0.577																																						dbGAP											0													152.0	139.0	144.0					17																	27381663		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF134593	CCDS11248.1	17p13.2	2008-07-18			ENSG00000179761	ENSG00000179761			17804	protein-coding gene	gene with protein product	"""L-pipecolic acid oxidase"""					10772957, 10642506	Standard	NM_016518		Approved	LPIPOX	uc002hdr.1	Q9P0Z9	OTTHUMG00000132679	ENST00000323372.4:c.761A>C	17.37:g.27381663A>C	ENSP00000317721:p.His254Pro		B3KNH0|Q96H28|Q9C070	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon	p.H254P	ENST00000323372.4	37	c.761	CCDS11248.1	17	.	.	.	.	.	.	.	.	.	.	A	8.412	0.844406	0.16963	.	.	ENSG00000179761	ENST00000323372	T	0.80738	-1.41	5.73	4.66	0.58398	FAD dependent oxidoreductase (1);	0.500578	0.24920	N	0.034553	T	0.67277	0.2876	N	0.25245	0.725	0.47183	D	0.999343	B	0.13145	0.007	B	0.14578	0.011	T	0.58797	-0.7573	10	0.23302	T	0.38	-11.4412	10.8094	0.46538	0.9248:0.0:0.0752:0.0	.	254	Q9P0Z9	SOX_HUMAN	P	254	ENSP00000317721:H254P	ENSP00000317721:H254P	H	+	2	0	PIPOX	24405789	0.983000	0.35010	0.764000	0.31436	0.036000	0.12997	5.164000	0.64954	1.010000	0.39314	0.459000	0.35465	CAC	PIPOX	-	pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon	ENSG00000179761		0.577	PIPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIPOX	HGNC	protein_coding	OTTHUMT00000255954.1	194	0.51	1	A	NM_016518		27381663	27381663	+1	no_errors	ENST00000323372	ensembl	human	known	69_37n	missense	190	15.18	34	SNP	0.925	C
PITPNM1	9600	genome.wustl.edu	37	11	67261773	67261773	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:67261773A>C	ENST00000534749.1	-	18	2989	c.2801T>G	c.(2800-2802)gTg>gGg	p.V934G	PITPNM1_ENST00000436757.2_Missense_Mutation_p.V933G|PITPNM1_ENST00000526450.1_5'UTR|PITPNM1_ENST00000356404.3_Missense_Mutation_p.V934G			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	934					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCCGCTTAGCACCTGGGGGCG	0.667																																					GBM(28;144 709 4607 5525)	dbGAP											0													33.0	34.0	34.0					11																	67261773		2200	4294	6494	-	-	-	SO:0001583	missense	0			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2801T>G	11.37:g.67261773A>C	ENSP00000437286:p.Val934Gly		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.V934G	ENST00000534749.1	37	c.2801	CCDS31620.1	11	.	.	.	.	.	.	.	.	.	.	A	14.40	2.525492	0.44969	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.51325	0.71;0.71;0.71	4.22	4.22	0.49857	.	0.000000	0.41938	D	0.000787	T	0.58090	0.2098	M	0.62723	1.935	0.58432	D	0.999999	D;D	0.69078	0.997;0.988	P;P	0.62184	0.899;0.601	T	0.60306	-0.7289	10	0.59425	D	0.04	-22.5936	7.4527	0.27248	0.8985:0.0:0.1015:0.0	.	933;934	O00562-2;O00562	.;PITM1_HUMAN	G	934;933;934	ENSP00000437286:V934G;ENSP00000398787:V933G;ENSP00000348772:V934G	ENSP00000348772:V934G	V	-	2	0	PITPNM1	67018349	0.418000	0.25440	1.000000	0.80357	0.011000	0.07611	2.163000	0.42377	1.687000	0.51057	0.260000	0.18958	GTG	PITPNM1	-	NULL	ENSG00000110697		0.667	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PITPNM1	HGNC	protein_coding	OTTHUMT00000395520.1	21	0.00	0	A	NM_004910		67261773	67261773	-1	no_errors	ENST00000356404	ensembl	human	known	69_37n	missense	13	33.33	7	SNP	1.000	C
PITPNM3	83394	genome.wustl.edu	37	17	6376048	6376048	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:6376048T>G	ENST00000262483.8	-	11	1445	c.1358A>C	c.(1357-1359)cAc>cCc	p.H453P	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Missense_Mutation_p.H417P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	453	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CGGCACCAGGTGGAACTTGGG	0.647																																						dbGAP											0													58.0	57.0	57.0					17																	6376048		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1358A>C	17.37:g.6376048T>G	ENSP00000262483:p.His453Pro		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.H453P	ENST00000262483.8	37	c.1358	CCDS11076.1	17	.	.	.	.	.	.	.	.	.	.	T	19.73	3.882820	0.72410	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.44881	0.92;0.91	5.09	4.0	0.46444	DDHD (2);	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	L	0.55481	1.735	0.45439	D	0.998419	D;D	0.76494	0.998;0.999	D;D	0.74348	0.947;0.983	T	0.53578	-0.8419	10	0.49607	T	0.09	.	8.559	0.33498	0.0:0.0917:0.0:0.9083	.	417;453	F8WEW5;Q9BZ71	.;PITM3_HUMAN	P	453;417	ENSP00000262483:H453P;ENSP00000407882:H417P	ENSP00000262483:H453P	H	-	2	0	PITPNM3	6316772	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.021000	0.64072	2.036000	0.60181	0.459000	0.35465	CAC	PITPNM3	-	pfam_DDHD,pfscan_DDHD	ENSG00000091622		0.647	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	129	0.75	1	T	NM_031220		6376048	6376048	-1	no_errors	ENST00000262483	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	1.000	G
PITPNM3	83394	genome.wustl.edu	37	17	6380367	6380367	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:6380367T>G	ENST00000262483.8	-	9	1154	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	PITPNM3_ENST00000421306.3_Missense_Mutation_p.H320P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	356					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GAAGGCATGGTGCTGGGTGAT	0.597																																						dbGAP											0													90.0	73.0	79.0					17																	6380367		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1067A>C	17.37:g.6380367T>G	ENSP00000262483:p.His356Pro		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.H356P	ENST00000262483.8	37	c.1067	CCDS11076.1	17	.	.	.	.	.	.	.	.	.	.	T	18.26	3.585542	0.66105	.	.	ENSG00000091622	ENST00000262483;ENST00000421306	T;T	0.45276	0.92;0.9	5.31	5.31	0.75309	.	0.160749	0.53938	D	0.000045	T	0.57844	0.2081	L	0.59436	1.845	0.51233	D	0.999912	D;D	0.69078	0.997;0.993	D;P	0.68483	0.958;0.811	T	0.56282	-0.8005	10	0.37606	T	0.19	.	13.2103	0.59821	0.0:0.0:0.0:1.0	.	320;356	F8WEW5;Q9BZ71	.;PITM3_HUMAN	P	356;320	ENSP00000262483:H356P;ENSP00000407882:H320P	ENSP00000262483:H356P	H	-	2	0	PITPNM3	6321091	1.000000	0.71417	0.970000	0.41538	0.867000	0.49689	5.902000	0.69869	2.015000	0.59207	0.460000	0.39030	CAC	PITPNM3	-	NULL	ENSG00000091622		0.597	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	114	0.87	1	T	NM_031220		6380367	6380367	-1	no_errors	ENST00000262483	ensembl	human	known	69_37n	missense	71	14.46	12	SNP	1.000	G
PITRM1	10531	genome.wustl.edu	37	10	3197854	3197854	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:3197854A>C	ENST00000224949.4	-	14	1584	c.1550T>G	c.(1549-1551)gTg>gGg	p.V517G	PITRM1_ENST00000380994.1_Missense_Mutation_p.V75G|PITRM1_ENST00000380989.2_Missense_Mutation_p.V517G|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.V485G|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	517					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CGTGGCTTCCACCTGTGCCTG	0.527																																						dbGAP											0													125.0	127.0	127.0					10																	3197854		2073	4223	6296	-	-	-	SO:0001583	missense	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1550T>G	10.37:g.3197854A>C	ENSP00000224949:p.Val517Gly		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd	p.V517G	ENST00000224949.4	37	c.1550	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	a	4.323	0.059236	0.08339	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.37	4.22	0.49857	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.400050	0.34046	N	0.004315	T	0.12860	0.0312	N	0.14661	0.345	0.44129	D	0.996918	B;B;B;B;B;B	0.12013	0.004;0.004;0.002;0.002;0.002;0.005	B;B;B;B;B;B	0.23275	0.001;0.007;0.026;0.045;0.045;0.045	T	0.09271	-1.0682	10	0.24483	T	0.36	.	11.658	0.51330	0.8669:0.0:0.0:0.1331	.	510;485;517;517;517;510	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	G	517;510;517;75;485	ENSP00000224949:V517G;ENSP00000370377:V517G;ENSP00000370382:V75G;ENSP00000401201:V485G	ENSP00000224949:V517G	V	-	2	0	PITRM1	3187854	0.995000	0.38212	0.373000	0.26003	0.005000	0.04900	4.023000	0.57211	0.959000	0.37980	0.460000	0.39030	GTG	PITRM1	-	pfam_Peptidase_M16C_assoc,superfamily_Metalloenz_metal-bd	ENSG00000107959		0.527	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	141	0.00	0	A			3197854	3197854	-1	no_errors	ENST00000380989	ensembl	human	known	69_37n	missense	137	13.21	21	SNP	0.975	C
PKD1L2	114780	genome.wustl.edu	37	16	81187735	81187735	+	RNA	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:81187735T>G	ENST00000525539.1	-	0	4236				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	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)	p.T1413P(1)		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						CCATACAGGGTGACAGTCACC	0.567																																						dbGAP											1	Substitution - Missense(1)	central_nervous_system(1)											84.0	82.0	83.0					16																	81187735		2061	4213	6274	-	-	-			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.81187735T>G			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	NULL	p.T1413P	ENST00000525539.1	37	c.4237		16																																																																																			PKD1L2	-	NULL	ENSG00000166473		0.567	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387972.2	208	0.00	0	T			81187735	81187735	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000525539	ensembl	human	known	69_37n	missense	131	13.46	21	SNP	1.000	G
PKM	5315	genome.wustl.edu	37	15	72492076	72492076	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:72492076T>C	ENST00000335181.5	-	11	1614	c.1511A>G	c.(1510-1512)aAg>aGg	p.K504R	PKM_ENST00000565184.1_Missense_Mutation_p.K504R|PKM_ENST00000319622.6_Missense_Mutation_p.K504R|PKM_ENST00000568883.1_Missense_Mutation_p.K339R|GRAMD2_ENST00000309731.7_5'Flank|PKM_ENST00000389093.3_Missense_Mutation_p.K504R|PKM_ENST00000568459.1_Missense_Mutation_p.K504R|PKM_ENST00000565154.1_Missense_Mutation_p.K504R|PKM_ENST00000449901.2_Missense_Mutation_p.K489R	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	504	Interaction with POU5F1.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	ATCTCCCTTCTTGAAGAAGCC	0.602											OREG0023252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													52.0	47.0	49.0					15																	72492076		2199	4297	6496	-	-	-	SO:0001583	missense	0			M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.1511A>G	15.37:g.72492076T>C	ENSP00000334983:p.Lys504Arg	1138	A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Missense_Mutation	SNP	pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase	p.K504R	ENST00000335181.5	37	c.1511	CCDS32284.1	15	.	.	.	.	.	.	.	.	.	.	T	18.16	3.563036	0.65538	.	.	ENSG00000067225	ENST00000319622;ENST00000335181;ENST00000434220;ENST00000327974;ENST00000389093;ENST00000449901	D;D;D;D	0.99220	-5.58;-5.58;-5.58;-5.58	5.49	5.49	0.81192	Pyruvate kinase, C-terminal (2);Pyruvate kinase, alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.99177	0.9715	M	0.64404	1.975	0.80722	D	1	D;D;B;P;P;B;D;B	0.76494	0.985;0.998;0.003;0.954;0.82;0.007;0.999;0.007	P;D;B;P;P;B;D;B	0.91635	0.804;0.998;0.027;0.85;0.725;0.027;0.999;0.027	D	0.99863	1.1086	10	0.34782	T	0.22	-13.9581	15.873	0.79136	0.0:0.0:0.0:1.0	.	430;489;484;504;504;339;431;339	B4DNK4;B4DUU6;E7EUQ8;P14618;P14618-2;Q504U3;E9PF79;E7EUJ4	.;.;.;KPYM_HUMAN;.;.;.;.	R	504;504;431;339;504;489	ENSP00000320171:K504R;ENSP00000334983:K504R;ENSP00000373745:K504R;ENSP00000403365:K489R	ENSP00000320171:K504R	K	-	2	0	PKM2	70279130	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.300000	0.72776	2.208000	0.71279	0.459000	0.35465	AAG	PKM	-	pfam_Pyrv_Knase_C,superfamily_Pyrv_Knase_C,tigrfam_Pyr_Knase	ENSG00000067225		0.602	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKM	HGNC	protein_coding	OTTHUMT00000420056.1	82	0.00	0	T			72492076	72492076	-1	no_errors	ENST00000319622	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	1.000	C
PKN1	5585	genome.wustl.edu	37	19	14581076	14581076	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:14581076T>G	ENST00000242783.6	+	19	2560	c.2395T>G	c.(2395-2397)Tgg>Ggg	p.W799G	PKN1_ENST00000342216.4_Missense_Mutation_p.W805G	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	799	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGTGGACTGGTGGGGACTGGG	0.647																																					NSCLC(185;2539 2965 10733 52867)	dbGAP											0													108.0	121.0	117.0					19																	14581076		2203	4300	6503	-	-	-	SO:0001583	missense	0			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2395T>G	19.37:g.14581076T>G	ENSP00000242783:p.Trp799Gly		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.W805G	ENST00000242783.6	37	c.2413	CCDS42513.1	19	.	.	.	.	.	.	.	.	.	.	T	19.88	3.909676	0.72983	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.46819	0.86;0.86	4.05	4.05	0.47172	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	U	0.000003	T	0.76926	0.4056	H	0.96662	3.86	0.51767	D	0.999939	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	D	0.83454	0.0050	10	0.72032	D	0.01	-23.9359	11.2445	0.48990	0.0:0.0:0.0:1.0	.	805;799	Q16512-2;Q16512	.;PKN1_HUMAN	G	799;805	ENSP00000242783:W799G;ENSP00000343325:W805G	ENSP00000242783:W799G	W	+	1	0	PKN1	14442076	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.684000	0.84104	1.824000	0.53156	0.397000	0.26171	TGG	PKN1	-	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	ENSG00000123143		0.647	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN1	HGNC	protein_coding	OTTHUMT00000095510.1	207	0.00	0	T	NM_002741, NM_213560		14581076	14581076	+1	no_errors	ENST00000342216	ensembl	human	known	69_37n	missense	166	13.54	26	SNP	1.000	G
PLA2G2D	26279	genome.wustl.edu	37	1	20442969	20442969	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:20442969A>C	ENST00000375105.3	-	2	100	c.42T>G	c.(40-42)ggT>ggG	p.G14G		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	14					glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGAATCACACCTGCCAAGC	0.562										Multiple Myeloma(11;0.12)																											Melanoma(60;742 1548 31762 39240)	dbGAP											0													70.0	62.0	65.0					1																	20442969		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF112982	CCDS203.1, CCDS72721.1	1p36.12	2008-09-19			ENSG00000117215	ENSG00000117215	3.1.1.4		9033	protein-coding gene	gene with protein product		605630				10455175	Standard	NM_012400		Approved	sPLA2S	uc001bcz.4	Q9UNK4	OTTHUMG00000002701	ENST00000375105.3:c.41-1T>G	1.37:g.20442969A>C			A8K2Z1|B1AEL9|Q9UK01	Silent	SNP	pfam_PLipase_A2_euk,superfamily_PLipase_A2,smart_PLipase_A2,prints_PLipase_A2_euk	p.G14	ENST00000375105.3	37	c.42	CCDS203.1	1																																																																																			PLA2G2D	-	NULL	ENSG00000117215		0.562	PLA2G2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G2D	HGNC	protein_coding	OTTHUMT00000007683.1	103	0.00	0	A		Silent	20442969	20442969	-1	no_errors	ENST00000375105	ensembl	human	known	69_37n	silent	80	15.79	15	SNP	0.960	C
PLCB2	5330	genome.wustl.edu	37	15	40596200	40596200	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:40596200A>C	ENST00000260402.3	-	2	412		c.e2+1		PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000543785.2_Splice_Site|PLCB2_ENST00000557821.1_Splice_Site|PLCB2_ENST00000456256.2_Splice_Site	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2						activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGGTTTTCTCACCTTACTTTG	0.537																																						dbGAP											0													83.0	87.0	85.0					15																	40596200		2031	4176	6207	-	-	-	SO:0001630	splice_region_variant	0				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.162+1T>G	15.37:g.40596200A>C			A8K6J2|B9EGH5	Splice_Site	SNP	-	e2+2	ENST00000260402.3	37	c.162+2	CCDS42020.1	15	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407612	0.42715	.	.	ENSG00000137841	ENST00000260402;ENST00000456256;ENST00000543785	.	.	.	4.43	4.43	0.53597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7963	0.57560	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PLCB2	38383492	1.000000	0.71417	1.000000	0.80357	0.378000	0.30076	7.726000	0.84824	1.757000	0.51966	0.533000	0.62120	.	PLCB2	-	-	ENSG00000137841		0.537	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	142	0.00	0	A		Intron	40596200	40596200	-1	no_errors	ENST00000260402	ensembl	human	known	69_37n	splice_site	141	12.35	20	SNP	1.000	C
PLCG2	5336	genome.wustl.edu	37	16	81888144	81888144	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:81888144A>C	ENST00000359376.3	+	3	503	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PLCG2_ENST00000565400.1_3'UTR	NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	97	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGCTGCTTCACCATCCTATA	0.483																																						dbGAP											0													166.0	174.0	171.0					16																	81888144		2098	4229	6327	-	-	-	SO:0001583	missense	0				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.289A>C	16.37:g.81888144A>C	ENSP00000352336:p.Thr97Pro		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.T97P	ENST00000359376.3	37	c.289	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337126	0.60963	.	.	ENSG00000197943	ENST00000359376	T	0.65178	-0.14	5.78	2.2	0.27929	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.100486	0.64402	D	0.000002	T	0.68924	0.3054	M	0.71581	2.175	0.52099	D	0.999949	D	0.63046	0.992	P	0.58721	0.844	T	0.66284	-0.5962	10	0.72032	D	0.01	.	5.9092	0.19018	0.6719:0.0:0.0711:0.2569	.	97	P16885	PLCG2_HUMAN	P	97	ENSP00000352336:T97P	ENSP00000352336:T97P	T	+	1	0	PLCG2	80445645	1.000000	0.71417	0.980000	0.43619	0.362000	0.29581	4.393000	0.59665	0.091000	0.17302	0.460000	0.39030	ACC	PLCG2	-	smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_Pleckstrin_homology	ENSG00000197943		0.483	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	161	0.00	0	A			81888144	81888144	+1	no_errors	ENST00000359376	ensembl	human	known	69_37n	missense	87	18.69	20	SNP	1.000	C
PLCG2	5336	genome.wustl.edu	37	16	81973542	81973542	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:81973542T>G	ENST00000359376.3	+	30	3573	c.3359T>G	c.(3358-3360)gTg>gGg	p.V1120G		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1120	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAGGAGAAGGTGACATTTGAA	0.473																																						dbGAP											0													127.0	121.0	122.0					16																	81973542		1883	4123	6006	-	-	-	SO:0001583	missense	0				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3359T>G	16.37:g.81973542T>G	ENSP00000352336:p.Val1120Gly		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_Ca-dep,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.V1120G	ENST00000359376.3	37	c.3359	CCDS42204.1	16	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087436	0.55968	.	.	ENSG00000197943	ENST00000359376	T	0.69926	-0.44	5.75	5.75	0.90469	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.301266	0.36066	N	0.002806	T	0.57651	0.2068	L	0.39898	1.24	0.80722	D	1	P	0.39352	0.669	B	0.38106	0.265	T	0.63033	-0.6727	10	0.72032	D	0.01	.	10.4121	0.44301	0.0:0.0724:0.0:0.9276	.	1120	P16885	PLCG2_HUMAN	G	1120	ENSP00000352336:V1120G	ENSP00000352336:V1120G	V	+	2	0	PLCG2	80531043	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.970000	0.56824	2.194000	0.70268	0.533000	0.62120	GTG	PLCG2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_C2_membr_targeting	ENSG00000197943		0.473	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCG2	HGNC	protein_coding	OTTHUMT00000432429.1	120	0.00	0	T			81973542	81973542	+1	no_errors	ENST00000359376	ensembl	human	known	69_37n	missense	106	18.94	25	SNP	1.000	G
PLCXD1	55344	genome.wustl.edu	37	X	207349	207349	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:207349T>G	ENST00000381657.2	+	4	813	c.299T>G	c.(298-300)gTg>gGg	p.V100G	PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_Missense_Mutation_p.V100G|PLCXD1_ENST00000381663.3_Missense_Mutation_p.V100G	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	100	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GATGCCGGGGTGCGGTACCTG	0.637																																						dbGAP											0													197.0	169.0	178.0					X																	207349		2203	4296	6499	-	-	-	SO:0001583	missense	0			AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.299T>G	X.37:g.207349T>G	ENSP00000371073:p.Val100Gly		A2BH51|A2BH52	Missense_Mutation	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.V100G	ENST00000381657.2	37	c.299	CCDS14103.1	X	.	.	.	.	.	.	.	.	.	.	.	15.43	2.832133	0.50845	.	.	ENSG00000182378	ENST00000399012;ENST00000430923;ENST00000381657;ENST00000381663;ENST00000415337;ENST00000447472;ENST00000448477	T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25	2.14	2.14	0.27477	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (2);	0.330949	0.27193	U	0.020498	T	0.70325	0.3211	.	.	.	0.26051	N	0.98148	P	0.52170	0.951	P	0.55161	0.77	T	0.62177	-0.6909	9	0.87932	D	0	.	7.7873	0.29099	0.0:0.0:0.0:1.0	.	100	Q9NUJ7	PLCX1_HUMAN	G	100	ENSP00000381976:V100G;ENSP00000394848:V100G;ENSP00000371073:V100G;ENSP00000371079:V100G;ENSP00000399510:V100G;ENSP00000405307:V100G	ENSP00000371073:V100G	V	+	2	0	PLCXD1	147349	1.000000	0.71417	0.982000	0.44146	0.672000	0.39443	4.529000	0.60588	0.720000	0.32209	0.324000	0.21423	GTG	PLCXD1	-	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	ENSG00000182378		0.637	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLCXD1	HGNC	protein_coding	OTTHUMT00000058879.2	260	0.38	1	T	NM_018390		207349	207349	+1	no_errors	ENST00000381657	ensembl	human	known	69_37n	missense	165	11.52	22	SNP	1.000	G
PLD3	23646	genome.wustl.edu	37	19	40873670	40873670	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:40873670A>C	ENST00000409587.1	+	6	710	c.313A>C	c.(313-315)Acc>Ccc	p.T105P	PLD3_ENST00000409419.1_Missense_Mutation_p.T105P|PLD3_ENST00000356508.5_Missense_Mutation_p.T105P|PLD3_ENST00000409735.4_Missense_Mutation_p.T105P|PLD3_ENST00000409281.1_Missense_Mutation_p.T105P			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	105					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GAACCCTTCCACCAGCCAGGC	0.637																																						dbGAP											0													49.0	43.0	45.0					19																	40873670		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.313A>C	19.37:g.40873670A>C	ENSP00000387050:p.Thr105Pro		Q92853|Q9BW87	Missense_Mutation	SNP	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.T105P	ENST00000409587.1	37	c.313	CCDS33027.1	19	.	.	.	.	.	.	.	.	.	.	A	23.6	4.430906	0.83776	.	.	ENSG00000105223	ENST00000392032;ENST00000409419;ENST00000409587;ENST00000356508;ENST00000409735;ENST00000409281;ENST00000359274	T;T;T;T;T;T;T	0.57273	0.68;0.41;0.41;0.41;0.41;0.41;0.61	5.74	4.72	0.59763	.	0.047461	0.85682	D	0.000000	T	0.67297	0.2878	M	0.63843	1.955	0.49213	D	0.99976	D	0.76494	0.999	D	0.72338	0.977	T	0.68307	-0.5443	10	0.62326	D	0.03	-11.5046	11.2205	0.48853	0.846:0.154:0.0:0.0	.	105	Q8IV08	PLD3_HUMAN	P	105	ENSP00000375886:T105P;ENSP00000386293:T105P;ENSP00000387050:T105P;ENSP00000348901:T105P;ENSP00000386938:T105P;ENSP00000387022:T105P;ENSP00000352220:T105P	ENSP00000348901:T105P	T	+	1	0	PLD3	45565510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.020000	0.76419	0.984000	0.38629	0.460000	0.39030	ACC	PLD3	-	NULL	ENSG00000105223		0.637	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLD3	HGNC	protein_coding	OTTHUMT00000327721.1	60	0.00	0	A	NM_012268		40873670	40873670	+1	no_errors	ENST00000356508	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	1.000	C
PLEKHH1	57475	genome.wustl.edu	37	14	68042657	68042657	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:68042657A>C	ENST00000329153.5	+	16	2419	c.2287A>C	c.(2287-2289)Acc>Ccc	p.T763P	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	763	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTCCCACTGCACCCTGGTGAT	0.582																																						dbGAP											0													70.0	76.0	74.0					14																	68042657		2059	4189	6248	-	-	-	SO:0001583	missense	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2287A>C	14.37:g.68042657A>C	ENSP00000330278:p.Thr763Pro		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.T763P	ENST00000329153.5	37	c.2287	CCDS45128.1	14	.	.	.	.	.	.	.	.	.	.	A	26.0	4.692861	0.88735	.	.	ENSG00000054690	ENST00000329153	T	0.26067	1.76	4.71	4.71	0.59529	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.57768	-0.7754	10	0.87932	D	0	.	14.641	0.68726	1.0:0.0:0.0:0.0	.	763	Q9ULM0	PKHH1_HUMAN	P	763	ENSP00000330278:T763P	ENSP00000330278:T763P	T	+	1	0	PLEKHH1	67112410	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.074000	0.93998	2.098000	0.63641	0.448000	0.29417	ACC	PLEKHH1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000054690		0.582	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	100	0.00	0	A	XM_031054		68042657	68042657	+1	no_errors	ENST00000329153	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	1.000	C
PLEKHM2	23207	genome.wustl.edu	37	1	16055619	16055619	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:16055619T>G	ENST00000375799.3	+	13	2236	c.2009T>G	c.(2008-2010)gTg>gGg	p.V670G	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.V650G|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	670					Golgi organization (GO:0007030)	cytoplasm (GO:0005737)	kinesin binding (GO:0019894)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CAGCAGACGGTGAAGCTGGTG	0.622																																						dbGAP											0													59.0	65.0	63.0					1																	16055619		2184	4280	6464	-	-	-	SO:0001583	missense	0			AB020649	CCDS44063.1	1p36.13	2013-01-10			ENSG00000116786	ENSG00000116786		"""Pleckstrin homology (PH) domain containing"""	29131	protein-coding gene	gene with protein product		609613				10048485	Standard	NM_015164		Approved	KIAA0842	uc010obo.2	Q8IWE5	OTTHUMG00000003062	ENST00000375799.3:c.2009T>G	1.37:g.16055619T>G	ENSP00000364956:p.Val670Gly		O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7	Missense_Mutation	SNP	pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run	p.V670G	ENST00000375799.3	37	c.2009	CCDS44063.1	1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891444	0.72524	.	.	ENSG00000116786	ENST00000375799;ENST00000375793	T;T	0.60672	0.19;0.17	5.15	5.15	0.70609	.	0.063428	0.64402	D	0.000006	T	0.60650	0.2285	L	0.32530	0.975	0.80722	D	1	D	0.55605	0.972	P	0.54706	0.759	T	0.65524	-0.6147	10	0.87932	D	0	-21.6795	15.0027	0.71486	0.0:0.0:0.0:1.0	.	670	Q8IWE5	PKHM2_HUMAN	G	670;650	ENSP00000364956:V670G;ENSP00000364950:V650G	ENSP00000364950:V650G	V	+	2	0	PLEKHM2	15928206	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.281000	0.78621	1.953000	0.56701	0.459000	0.35465	GTG	PLEKHM2	-	NULL	ENSG00000116786		0.622	PLEKHM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM2	HGNC	protein_coding	OTTHUMT00000008463.1	135	0.00	0	T	NM_015164		16055619	16055619	+1	no_errors	ENST00000375799	ensembl	human	known	69_37n	missense	80	17.35	17	SNP	1.000	G
PLIN1	5346	genome.wustl.edu	37	15	90210289	90210289	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:90210289T>C	ENST00000300055.5	-	8	1252	c.1087A>G	c.(1087-1089)Agg>Ggg	p.R363G	PLIN1_ENST00000430628.2_Missense_Mutation_p.R363G	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	363					lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|lipid particle (GO:0005811)	lipid binding (GO:0008289)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						TGCAGCACCCTCCCTGCCATG	0.622																																						dbGAP											0													75.0	62.0	66.0					15																	90210289		2200	4299	6499	-	-	-	SO:0001583	missense	0			AB005293	CCDS10353.1	15q26	2009-08-12	2009-08-12	2009-08-12	ENSG00000166819	ENSG00000166819		"""Perilipins"""	9076	protein-coding gene	gene with protein product		170290	"""perilipin"""	PLIN		9521880, 19638644	Standard	NM_002666		Approved		uc010upx.1	O60240	OTTHUMG00000149813	ENST00000300055.5:c.1087A>G	15.37:g.90210289T>C	ENSP00000300055:p.Arg363Gly		Q8N5Y6	Missense_Mutation	SNP	pfam_Perilipin,pirsf_Perilipin	p.R363G	ENST00000300055.5	37	c.1087	CCDS10353.1	15	.	.	.	.	.	.	.	.	.	.	T	0.257	-1.002057	0.02128	.	.	ENSG00000166819	ENST00000300055;ENST00000430628	T;T	0.05649	3.41;3.41	5.13	-2.0	0.07433	.	1.646650	0.02804	N	0.123553	T	0.04543	0.0124	N	0.25031	0.7	0.09310	N	1	B	0.18863	0.031	B	0.17098	0.017	T	0.39722	-0.9600	10	0.14252	T	0.57	-28.8776	5.5026	0.16836	0.0:0.24:0.4818:0.2782	.	363	O60240	PLIN1_HUMAN	G	363	ENSP00000300055:R363G;ENSP00000402167:R363G	ENSP00000300055:R363G	R	-	1	2	PLIN1	88011293	0.032000	0.19561	0.000000	0.03702	0.021000	0.10359	0.792000	0.26929	-0.363000	0.08101	-0.441000	0.05720	AGG	PLIN1	-	pfam_Perilipin,pirsf_Perilipin	ENSG00000166819		0.622	PLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN1	HGNC	protein_coding	OTTHUMT00000313424.2	80	0.00	0	T	NM_002666		90210289	90210289	-1	no_errors	ENST00000300055	ensembl	human	known	69_37n	missense	29	32.56	14	SNP	0.001	C
PLIN2	123	genome.wustl.edu	37	9	19116355	19116355	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:19116355A>C	ENST00000276914.2	-	8	1384	c.1205T>G	c.(1204-1206)gTa>gGa	p.V402G	PLIN2_ENST00000411567.1_Missense_Mutation_p.V321G	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	402					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AAAGGGACCTACCAGCCAGTT	0.498																																						dbGAP											0													93.0	86.0	88.0					9																	19116355		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.1205T>G	9.37:g.19116355A>C	ENSP00000276914:p.Val402Gly		Q9BSC3	Splice_Site	SNP	-	NULL	ENST00000276914.2	37	c.NULL	CCDS6490.1	9	.	.	.	.	.	.	.	.	.	.	A	24.6	4.553579	0.86127	.	.	ENSG00000147872	ENST00000411567;ENST00000276914	T;T	0.32515	1.45;1.45	5.67	5.67	0.87782	.	0.453001	0.23249	N	0.050272	T	0.38532	0.1044	L	0.34521	1.04	0.80722	D	1	D	0.54601	0.967	P	0.53518	0.728	T	0.21381	-1.0247	10	0.87932	D	0	.	15.9085	0.79450	1.0:0.0:0.0:0.0	.	402	Q99541	PLIN2_HUMAN	G	321;402	ENSP00000415270:V321G;ENSP00000276914:V402G	ENSP00000276914:V402G	V	-	2	0	PLIN2	19106355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.307000	0.96226	2.156000	0.67533	0.528000	0.53228	GTA	PLIN2	-	-	ENSG00000147872		0.498	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN2	HGNC	protein_coding	OTTHUMT00000051835.1	131	0.75	1	A	NM_001122		19116355	19116355	-1	no_errors	ENST00000464326	ensembl	human	known	69_37n	splice_site	72	16.85	15	SNP	1.000	C
KIZ	55857	genome.wustl.edu	37	20	21226994	21226994	+	RNA	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:21226994T>G	ENST00000457464.1	+	0	3589																											CATCATGTGGTGTCCCTGTTA	0.413																																						dbGAP											0																																										-	-	-			0																															20.37:g.21226994T>G				RNA	SNP	-	NULL	ENST00000457464.1	37	NULL		20																																																																																			PLK1S1	-	-	ENSG00000088970		0.413	PLK1S1-003	KNOWN	not_organism_supported|sequence_error|basic	processed_transcript	PLK1S1	HGNC	processed_transcript	OTTHUMT00000078262.2	43	0.00	0	T			21226994	21226994	+1	no_errors	ENST00000457464	ensembl	human	known	69_37n	rna	38	19.15	9	SNP	0.000	G
PLXDC2	84898	genome.wustl.edu	37	10	20290784	20290784	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:20290784T>G	ENST00000377252.4	+	2	1034	c.193T>G	c.(193-195)Tgg>Ggg	p.W65G	PLXDC2_ENST00000377242.3_Missense_Mutation_p.W65G	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	65					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAGCCACAGGTGGAAAAGAAA	0.512																																						dbGAP											0													97.0	79.0	85.0					10																	20290784		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.193T>G	10.37:g.20290784T>G	ENSP00000366460:p.Trp65Gly		Q96E59|Q96PD9|Q96SU9	Missense_Mutation	SNP	pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like	p.W65G	ENST00000377252.4	37	c.193	CCDS7132.1	10	.	.	.	.	.	.	.	.	.	.	T	12.95	2.090072	0.36855	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	T;T	0.61158	1.42;0.13	5.9	4.76	0.60689	.	0.126728	0.64402	D	0.000009	T	0.64702	0.2622	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.66662	-0.5867	10	0.87932	D	0	.	10.7359	0.46124	0.0:0.072:0.0:0.928	.	65;65	Q6UX71-2;Q6UX71	.;PXDC2_HUMAN	G	65;65;51	ENSP00000366460:W65G;ENSP00000366450:W65G	ENSP00000366450:W65G	W	+	1	0	PLXDC2	20330790	1.000000	0.71417	0.997000	0.53966	0.025000	0.11179	3.628000	0.54259	1.060000	0.40578	-0.297000	0.09499	TGG	PLXDC2	-	NULL	ENSG00000120594		0.512	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	HGNC	protein_coding	OTTHUMT00000047101.2	111	0.00	0	T	NM_032812		20290784	20290784	+1	no_errors	ENST00000377252	ensembl	human	known	69_37n	missense	63	20.25	16	SNP	1.000	G
PLXNA1	5361	genome.wustl.edu	37	3	126722199	126722199	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:126722199T>G	ENST00000393409.2	+	3	1404	c.1404T>G	c.(1402-1404)ggT>ggG	p.G468G	PLXNA1_ENST00000251772.4_Silent_p.G445G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	468	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAAACCCCGGTGGCCGGCCTG	0.672																																						dbGAP											0													60.0	60.0	60.0					3																	126722199		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1404T>G	3.37:g.126722199T>G				Silent	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.G468	ENST00000393409.2	37	c.1404	CCDS33847.2	3																																																																																			PLXNA1	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000114554		0.672	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	68	0.00	0	T	NM_032242		126722199	126722199	+1	no_errors	ENST00000393409	ensembl	human	known	69_37n	silent	25	24.24	8	SNP	0.000	G
PLXNA2	5362	genome.wustl.edu	37	1	208202230	208202230	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:208202230A>G	ENST00000367033.3	-	30	6140	c.5383T>C	c.(5383-5385)Tcc>Ccc	p.S1795P	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1795					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)		AGCTTGTTGGAGGGGGAGTCC	0.612																																						dbGAP											0													107.0	104.0	105.0					1																	208202230		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.5383T>C	1.37:g.208202230A>G	ENSP00000356000:p.Ser1795Pro		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.S1795P	ENST00000367033.3	37	c.5383	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	A	24.3	4.515874	0.85495	.	.	ENSG00000076356	ENST00000367033	T	0.14144	2.53	5.36	5.36	0.76844	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.111624	0.64402	D	0.000005	T	0.44953	0.1318	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.55023	-0.8205	10	0.87932	D	0	.	10.6074	0.45402	0.8566:0.0:0.0:0.1434	.	1795;65	O75051;Q9HAE7	PLXA2_HUMAN;.	P	1795	ENSP00000356000:S1795P	ENSP00000356000:S1795P	S	-	1	0	PLXNA2	206268853	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.012000	0.76366	2.042000	0.60477	0.533000	0.62120	TCC	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000076356		0.612	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	107	0.92	1	A	NM_025179		208202230	208202230	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	missense	171	22.97	51	SNP	1.000	G
PLXNA2	5362	genome.wustl.edu	37	1	208270155	208270155	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:208270155A>C	ENST00000367033.3	-	7	2562	c.1805T>G	c.(1804-1806)gTg>gGg	p.V602G		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	602					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)		CTGCCCCTCCACCTCTGTCAG	0.562																																						dbGAP											0													76.0	63.0	68.0					1																	208270155		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.1805T>G	1.37:g.208270155A>C	ENSP00000356000:p.Val602Gly		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.V602G	ENST00000367033.3	37	c.1805	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.899370	0.33535	.	.	ENSG00000076356	ENST00000367033	T	0.00976	5.48	4.92	4.92	0.64577	.	0.309702	0.38837	N	0.001558	T	0.01421	0.0046	L	0.57536	1.79	0.80722	D	1	B	0.27229	0.172	B	0.20384	0.029	T	0.56577	-0.7956	10	0.62326	D	0.03	.	10.0417	0.42162	0.8498:0.0:0.0:0.1502	.	602	O75051	PLXA2_HUMAN	G	602	ENSP00000356000:V602G	ENSP00000356000:V602G	V	-	2	0	PLXNA2	206336778	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	5.302000	0.65733	2.072000	0.62099	0.533000	0.62120	GTG	PLXNA2	-	NULL	ENSG00000076356		0.562	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	92	0.00	0	A	NM_025179		208270155	208270155	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	missense	101	14.29	17	SNP	0.998	C
PLXNA4	91584	genome.wustl.edu	37	7	131870148	131870148	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:131870148A>C	ENST00000359827.3	-	16	4030	c.3068T>G	c.(3067-3069)gTg>gGg	p.V1023G	PLXNA4_ENST00000321063.4_Missense_Mutation_p.V1023G			Q9HCM2	PLXA4_HUMAN	plexin A4	1023	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGCCCTGTCCACCTGCACCGA	0.552																																						dbGAP											0													125.0	131.0	129.0					7																	131870148		2075	4217	6292	-	-	-	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3068T>G	7.37:g.131870148A>C	ENSP00000352882:p.Val1023Gly		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	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.V1023G	ENST00000359827.3	37	c.3068	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	A	27.2	4.805549	0.90623	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.79454	-1.27;-1.27	5.33	5.33	0.75918	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.204001	0.43747	D	0.000532	D	0.84678	0.5525	L	0.56769	1.78	0.80722	D	1	D	0.54601	0.967	P	0.62382	0.901	D	0.86464	0.1781	10	0.87932	D	0	.	15.3027	0.73966	1.0:0.0:0.0:0.0	.	1023	Q9HCM2	PLXA4_HUMAN	G	1023	ENSP00000323194:V1023G;ENSP00000352882:V1023G	ENSP00000323194:V1023G	V	-	2	0	PLXNA4	131520688	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.226000	0.78060	2.026000	0.59711	0.459000	0.35465	GTG	PLXNA4	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000221866		0.552	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	146	0.00	0	A	NM_181775		131870148	131870148	-1	no_errors	ENST00000321063	ensembl	human	known	69_37n	missense	120	13.04	18	SNP	1.000	C
PODNL1	79883	genome.wustl.edu	37	19	14044698	14044698	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:14044698T>G	ENST00000339560.5	-	7	1054	c.781A>C	c.(781-783)Acc>Ccc	p.T261P	PODNL1_ENST00000254320.3_Missense_Mutation_p.T179P|PODNL1_ENST00000538517.2_Missense_Mutation_p.T170P|PODNL1_ENST00000538371.2_Missense_Mutation_p.T259P	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	261	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TACCTGAAGGTGGTGGCATCC	0.622																																						dbGAP											0													33.0	31.0	32.0					19																	14044698		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.781A>C	19.37:g.14044698T>G	ENSP00000345175:p.Thr261Pro		B7Z564|Q9H5G9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T261P	ENST00000339560.5	37	c.781	CCDS12300.1	19	.	.	.	.	.	.	.	.	.	.	T	15.87	2.961694	0.53400	.	.	ENSG00000132000	ENST00000538371;ENST00000538517;ENST00000339560;ENST00000545071;ENST00000254320	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	4.58	3.56	0.40772	.	0.000000	0.46145	D	0.000320	T	0.65668	0.2713	L	0.46947	1.48	0.35137	D	0.768474	D;D;D;D	0.89917	1.0;1.0;0.997;0.999	D;D;D;D	0.97110	0.998;1.0;0.963;0.995	T	0.71951	-0.4437	10	0.72032	D	0.01	.	7.45	0.27234	0.0:0.1031:0.0:0.8969	.	259;179;170;261	F5H7F9;B7Z3M0;G3V1J6;Q6PEZ8	.;.;.;PONL1_HUMAN	P	259;170;261;111;179	ENSP00000442553:T259P;ENSP00000440080:T170P;ENSP00000345175:T261P;ENSP00000254320:T179P	ENSP00000254320:T179P	T	-	1	0	PODNL1	13905698	0.977000	0.34250	0.475000	0.27278	0.300000	0.27592	1.827000	0.39102	0.629000	0.30376	0.472000	0.43445	ACC	PODNL1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000132000		0.622	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	PODNL1	HGNC	protein_coding	OTTHUMT00000457967.1	131	0.75	1	T	NM_024825		14044698	14044698	-1	no_errors	ENST00000339560	ensembl	human	known	69_37n	missense	79	20.20	20	SNP	0.974	G
PODXL	5420	genome.wustl.edu	37	7	131196049	131196049	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:131196049T>G	ENST00000378555.3	-	2	491	c.244A>C	c.(244-246)Acc>Ccc	p.T82P	PODXL_ENST00000537928.1_Missense_Mutation_p.T82P|PODXL_ENST00000322985.9_Missense_Mutation_p.T82P|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000541194.1_Missense_Mutation_p.T84P			O00592	PODXL_HUMAN	podocalyxin-like	82	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACACCAAGGGTGGTCGCCTTG	0.582																																						dbGAP											0													166.0	160.0	162.0					7																	131196049		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.244A>C	7.37:g.131196049T>G	ENSP00000367817:p.Thr82Pro		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1	p.T84P	ENST00000378555.3	37	c.250	CCDS34755.1	7	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553210	0.27739	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.13089	2.86;2.62;2.86;2.85	2.41	-4.83	0.03161	.	91.060700	0.00166	N	0.000000	T	0.08935	0.0221	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.27839	-1.0062	10	0.30078	T	0.28	.	10.2381	0.43294	0.0:0.1074:0.7209:0.1717	.	82;82	O00592-2;O00592	.;PODXL_HUMAN	P	84;82;72;82;82	ENSP00000440518:T84P;ENSP00000442655:T82P;ENSP00000367817:T82P;ENSP00000319782:T82P	ENSP00000319782:T82P	T	-	1	0	PODXL	130846589	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.832000	0.00355	-2.578000	0.00464	-0.607000	0.04081	ACC	PODXL	-	pirsf_Podocalyxin-like_p1	ENSG00000128567		0.582	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PODXL	HGNC	protein_coding	OTTHUMT00000337627.2	354	0.84	3	T	NM_001018111		131196049	131196049	-1	no_errors	ENST00000541194	ensembl	human	known	69_37n	missense	336	11.23	43	SNP	0.000	G
POLA2	23649	genome.wustl.edu	37	11	65061635	65061635	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:65061635A>C	ENST00000265465.3	+	14	1787	c.1256A>C	c.(1255-1257)cAc>cCc	p.H419P	POLA2_ENST00000541089.1_Missense_Mutation_p.H211P	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	419					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)	TCCGGCTCCCACCTTGTCTTT	0.517																																						dbGAP											0													369.0	373.0	372.0					11																	65061635		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.1256A>C	11.37:g.65061635A>C	ENSP00000265465:p.His419Pro		B4DNB4|Q9BPV3	Missense_Mutation	SNP	pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	p.H419P	ENST00000265465.3	37	c.1256	CCDS8098.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.90|18.90	3.721848|3.721848	0.68959|0.68959	.|.	.|.	ENSG00000014138|ENSG00000014138	ENST00000265465;ENST00000541089|ENST00000525924	T;T|.	0.27720|.	1.65;1.65|.	5.93|5.93	4.79|4.79	0.61399|0.61399	DNA polymerase alpha/epsilon, subunit B (1);|.	0.267562|.	0.42682|.	N|.	0.000672|.	T|T	0.65533|0.65533	0.2700|0.2700	M|M	0.66939|0.66939	2.045|2.045	0.42975|0.42975	D|D	0.994444|0.994444	D;D|.	0.69078|.	0.994;0.997|.	P;D|.	0.64506|.	0.894;0.926|.	T|T	0.64516|0.64516	-0.6389|-0.6389	10|5	0.45353|.	T|.	0.12|.	-28.2346|-28.2346	11.5168|11.5168	0.50526|0.50526	0.8496:0.1504:0.0:0.0|0.8496:0.1504:0.0:0.0	.|.	211;419|.	B4DNB4;Q14181|.	.;DPOA2_HUMAN|.	P|P	419;211|89	ENSP00000265465:H419P;ENSP00000443222:H211P|.	ENSP00000265465:H419P|.	H|T	+|+	2|1	0|0	POLA2|POLA2	64818211|64818211	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	1.382000|1.382000	0.34374|0.34374	1.056000|1.056000	0.40484|0.40484	0.533000|0.533000	0.62120|0.62120	CAC|ACC	POLA2	-	pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu	ENSG00000014138		0.517	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLA2	HGNC	protein_coding	OTTHUMT00000387223.1	134	0.00	0	A	NM_002689		65061635	65061635	+1	no_errors	ENST00000265465	ensembl	human	known	69_37n	missense	204	16.60	41	SNP	1.000	C
POLE	5426	genome.wustl.edu	37	12	133218851	133218851	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:133218851A>C	ENST00000320574.5	-	38	5128	c.5085T>G	c.(5083-5085)ggT>ggG	p.G1695G	POLE_ENST00000535270.1_Silent_p.G1668G|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1695					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CCTCCTTTCCACCCAGGTCAG	0.577								DNA polymerases (catalytic subunits)																														dbGAP											0													127.0	114.0	119.0					12																	133218851		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.5085T>G	12.37:g.133218851A>C			Q13533|Q86VH9	Silent	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.G1706	ENST00000320574.5	37	c.5118	CCDS9278.1	12																																																																																			POLE	-	pfam_DNA_pol_e_suA_C	ENSG00000177084		0.577	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	182	0.54	1	A	NM_006231		133218851	133218851	-1	no_errors	ENST00000455752	ensembl	human	known	69_37n	silent	113	13.74	18	SNP	0.068	C
POLE	5426	genome.wustl.edu	37	12	133252388	133252388	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:133252388A>C	ENST00000320574.5	-	11	1082	c.1039T>G	c.(1039-1041)Tgg>Ggg	p.W347G	POLE_ENST00000535270.1_Missense_Mutation_p.W320G	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	347					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	TGTTCAAACCACCTTTGGATC	0.483								DNA polymerases (catalytic subunits)																														dbGAP											0													105.0	103.0	104.0					12																	133252388		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.1039T>G	12.37:g.133252388A>C	ENSP00000322570:p.Trp347Gly		Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.W358G	ENST00000320574.5	37	c.1072	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593914	0.86953	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.10860	4.79;4.79;4.79;2.83	5.74	5.74	0.90152	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.060400	0.64402	D	0.000001	T	0.32466	0.0830	M	0.75615	2.305	0.80722	D	1	D;D	0.69078	0.997;0.995	P;D	0.63703	0.907;0.917	T	0.04281	-1.0963	10	0.87932	D	0	.	16.0499	0.80749	1.0:0.0:0.0:0.0	.	320;347	F5H1D6;Q07864	.;DPOE1_HUMAN	G	347;358;320;127;282	ENSP00000322570:W347G;ENSP00000406383:W358G;ENSP00000445753:W320G;ENSP00000442519:W127G	ENSP00000322570:W347G	W	-	1	0	POLE	131762461	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.007000	0.93597	2.193000	0.70182	0.533000	0.62120	TGG	POLE	-	pfam_DNA-dir_DNA_pol_B_exonuc,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	ENSG00000177084		0.483	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	91	0.00	0	A	NM_006231		133252388	133252388	-1	no_errors	ENST00000455752	ensembl	human	known	69_37n	missense	76	20.83	20	SNP	1.000	C
POLG	5428	genome.wustl.edu	37	15	89870220	89870220	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:89870220A>C	ENST00000268124.5	-	8	1841	c.1508T>G	c.(1507-1509)gTg>gGg	p.V503G	POLG_ENST00000442287.2_Missense_Mutation_p.V503G	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	503					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TTCCTTCTTCACCTTCTTAGC	0.577								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	dbGAP											0													150.0	133.0	139.0					15																	89870220		2200	4299	6499	-	-	-	SO:0001583	missense	0			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1508T>G	15.37:g.89870220A>C	ENSP00000268124:p.Val503Gly		Q8NFM2|Q92515	Missense_Mutation	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.V503G	ENST00000268124.5	37	c.1508	CCDS10350.1	15	.	.	.	.	.	.	.	.	.	.	A	6.555	0.470750	0.12461	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.86562	-2.14;-2.14	4.99	-0.34	0.12643	.	0.397654	0.29806	N	0.011143	T	0.70613	0.3244	N	0.14661	0.345	0.49915	D	0.99983	B	0.02656	0.0	B	0.01281	0.0	T	0.53746	-0.8395	10	0.26408	T	0.33	-3.9562	6.3945	0.21605	0.2117:0.4167:0.0:0.3716	.	503	P54098	DPOG1_HUMAN	G	503	ENSP00000268124:V503G;ENSP00000399851:V503G	ENSP00000268124:V503G	V	-	2	0	POLG	87671224	0.001000	0.12720	0.990000	0.47175	0.398000	0.30690	-0.175000	0.09825	0.212000	0.20703	0.397000	0.26171	GTG	POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub	ENSG00000140521		0.577	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	97	0.00	0	A	NM_002693		89870220	89870220	-1	no_errors	ENST00000268124	ensembl	human	known	69_37n	missense	153	13.74	25	SNP	0.986	C
POLL	27343	genome.wustl.edu	37	10	103345129	103345129	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:103345129T>G	ENST00000370162.3	-	4	1011	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	DPCD_ENST00000470165.1_Intron|DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000370158.3_Intron|POLL_ENST00000436284.2_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_Missense_Mutation_p.T173P|POLL_ENST00000456836.2_Intron|POLL_ENST00000339310.3_Intron|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370172.1_Missense_Mutation_p.T85P|POLL_ENST00000299206.4_Missense_Mutation_p.T173P|DPCD_ENST00000370151.4_5'Flank	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	173					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		ACAGGCCTGGTGGGAGGAGGA	0.602								DNA polymerases (catalytic subunits)																														dbGAP											0													161.0	138.0	146.0					10																	103345129		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.517A>C	10.37:g.103345129T>G	ENSP00000359181:p.Thr173Pro		D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	Missense_Mutation	SNP	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_pol_X_beta-like,prints_DNA_pol_X	p.T173P	ENST00000370162.3	37	c.517	CCDS7513.1	10	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486204	0.26686	.	.	ENSG00000166169	ENST00000299206;ENST00000370174;ENST00000370169;ENST00000370172;ENST00000370162;ENST00000370157;ENST00000415897;ENST00000426919;ENST00000413344;ENST00000430045	T;T;T;T;T;T;T	0.45276	2.65;2.65;2.68;2.65;2.18;1.41;0.9	4.31	-4.18	0.03846	.	1.337690	0.04157	N	0.322406	T	0.29914	0.0748	L	0.51422	1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.12142	-1.0559	10	0.30854	T	0.27	-21.1485	0.3138	0.00292	0.286:0.2677:0.1483:0.298	.	173;173	Q9UGP5;A8K860	DPOLL_HUMAN;.	P	173;173;173;85;173;173;173;184;173;173	ENSP00000299206:T173P;ENSP00000359188:T173P;ENSP00000359191:T85P;ENSP00000359181:T173P;ENSP00000400676:T173P;ENSP00000411678:T184P;ENSP00000400517:T173P	ENSP00000299206:T173P	T	-	1	0	POLL	103335119	0.000000	0.05858	0.000000	0.03702	0.121000	0.20230	-0.650000	0.05378	-0.797000	0.04450	0.448000	0.29417	ACC	POLL	-	NULL	ENSG00000166169		0.602	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	POLL	HGNC	protein_coding	OTTHUMT00000049946.1	295	1.00	3	T	NM_013274		103345129	103345129	-1	no_errors	ENST00000299206	ensembl	human	known	69_37n	missense	245	11.19	31	SNP	0.000	G
POLN	353497	genome.wustl.edu	37	4	2082698	2082698	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:2082698T>G	ENST00000511885.2	-	23	2727	c.2374A>C	c.(2374-2376)Acc>Ccc	p.T792P	POLN_ENST00000382865.1_Missense_Mutation_p.T792P			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	792					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GCCGTCAAGGTGTGGGAAGCA	0.597								DNA polymerases (catalytic subunits)																														dbGAP											0													136.0	129.0	131.0					4																	2082698		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.2374A>C	4.37:g.2082698T>G	ENSP00000435506:p.Thr792Pro		A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A	p.T792P	ENST00000511885.2	37	c.2374	CCDS3360.1	4	.	.	.	.	.	.	.	.	.	.	T	3.394	-0.123635	0.06795	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313	T;T	0.21191	2.02;2.02	4.15	1.5	0.22942	DNA-directed DNA polymerase, family A, palm domain (2);	0.540073	0.18200	N	0.148555	T	0.18341	0.0440	L	0.28115	0.83	0.09310	N	0.999992	P;B	0.49961	0.93;0.157	P;B	0.51974	0.686;0.065	T	0.12604	-1.0541	10	0.22706	T	0.39	-5.8651	6.611	0.22751	0.387:0.0:0.0:0.613	.	483;792	E9PE06;Q7Z5Q5	.;DPOLN_HUMAN	P	792;792;483	ENSP00000435506:T792P;ENSP00000372316:T792P	ENSP00000253313:T483P	T	-	1	0	POLN	2052496	0.056000	0.20664	0.277000	0.24703	0.034000	0.12701	0.820000	0.27323	0.197000	0.20387	0.459000	0.35465	ACC	POLN	-	pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom	ENSG00000130997		0.597	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLN	HGNC	protein_coding	OTTHUMT00000205684.2	143	0.68	1	T	NM_181808		2082698	2082698	-1	no_errors	ENST00000382865	ensembl	human	known	69_37n	missense	65	14.10	11	SNP	0.219	G
POLR1A	25885	genome.wustl.edu	37	2	86327177	86327177	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:86327177T>G	ENST00000263857.6	-	2	574	c.196A>C	c.(196-198)Acc>Ccc	p.T66P	POLR1A_ENST00000409681.1_Missense_Mutation_p.T66P			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	66					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGCACGCAGGTGGAGCACACC	0.552																																						dbGAP											0													86.0	91.0	90.0					2																	86327177		1999	4180	6179	-	-	-	SO:0001583	missense	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.196A>C	2.37:g.86327177T>G	ENSP00000263857:p.Thr66Pro		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.T66P	ENST00000263857.6	37	c.196	CCDS42706.1	2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.206436	0.79127	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.75154	-0.91;-0.91	5.78	5.78	0.91487	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.89451	0.6719	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	D	0.91925	0.5550	10	0.87932	D	0	-29.5377	16.098	0.81144	0.0:0.0:0.0:1.0	.	66;66	B9ZVN9;O95602	.;RPA1_HUMAN	P	66	ENSP00000263857:T66P;ENSP00000386300:T66P	ENSP00000263857:T66P	T	-	1	0	POLR1A	86180688	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.472000	0.80996	2.210000	0.71456	0.460000	0.39030	ACC	POLR1A	-	pfam_RNA_pol_Rpb1_1	ENSG00000068654		0.552	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	174	0.00	0	T	NM_015425		86327177	86327177	-1	no_errors	ENST00000263857	ensembl	human	known	69_37n	missense	109	18.66	25	SNP	1.000	G
POLR3E	55718	genome.wustl.edu	37	16	22326411	22326411	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:22326411T>G	ENST00000299853.5	+	9	691	c.524T>G	c.(523-525)gTg>gGg	p.V175G	POLR3E_ENST00000564209.1_Splice_Site_p.V175G|POLR3E_ENST00000418581.2_Splice_Site_p.V139G|POLR3E_ENST00000359210.4_Splice_Site_p.V175G	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	175					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCACCGCAGGTGCGGTTCTCC	0.642																																						dbGAP											0													43.0	40.0	41.0					16																	22326411		2197	4300	6497	-	-	-	SO:0001630	splice_region_variant	0			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.523-1T>G	16.37:g.22326411T>G			B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc5	p.V175G	ENST00000299853.5	37	c.524	CCDS10605.1	16	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616204	0.87359	.	.	ENSG00000058600	ENST00000299853;ENST00000359210;ENST00000418581	T;T;T	0.57107	0.42;0.42;0.42	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.75642	0.3877	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.998;1.0;0.999	T	0.80466	-0.1370	10	0.87932	D	0	-24.2847	15.5629	0.76262	0.0:0.0:0.0:1.0	.	119;139;175;175;175;175	B4DDR0;B4DL24;B4DUP6;Q9NVU0-2;Q9NVU0;Q9NVU0-3	.;.;.;.;RPC5_HUMAN;.	G	175;175;139	ENSP00000299853:V175G;ENSP00000352140:V175G;ENSP00000399254:V139G	ENSP00000299853:V175G	V	+	2	0	POLR3E	22233912	1.000000	0.71417	0.999000	0.59377	0.815000	0.46073	7.698000	0.84413	2.065000	0.61736	0.533000	0.62120	GTG	POLR3E	-	pfam_RNA_pol_III_Rpc5	ENSG00000058600		0.642	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	116	0.00	0	T	NM_018119	Missense_Mutation	22326411	22326411	+1	no_errors	ENST00000299853	ensembl	human	known	69_37n	missense	62	22.22	18	SNP	1.000	G
POLR3H	171568	genome.wustl.edu	37	22	41940092	41940092	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:41940092A>C	ENST00000355209.4	-	1	357	c.14T>G	c.(13-15)gTg>gGg	p.V5G	POLR3H_ENST00000396504.2_Missense_Mutation_p.V5G|POLR3H_ENST00000420561.1_5'UTR|POLR3H_ENST00000407461.1_Missense_Mutation_p.V5G|POLR3H_ENST00000337566.5_Missense_Mutation_p.V5G	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	5					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CACCATTTCCACCAGGACGAA	0.627																																						dbGAP											0													47.0	39.0	41.0					22																	41940092		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.14T>G	22.37:g.41940092A>C	ENSP00000347345:p.Val5Gly		B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Missense_Mutation	SNP	pfam_RNA_pol_III_Rbc25,pfam_RNA_pol_Rpb7_N,superfamily_RNA_pol_Rpb7_N,superfamily_NA-bd_OB-fold-like,tigrfam_RNAP_E/RPC8	p.V5G	ENST00000355209.4	37	c.14	CCDS14018.1	22	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823685	0.71143	.	.	ENSG00000100413	ENST00000396504;ENST00000355209;ENST00000337566;ENST00000407461	.	.	.	5.16	5.16	0.70880	RNA polymerase Rpb7, N-terminal (2);	0.000000	0.64402	D	0.000001	T	0.63768	0.2539	M	0.81112	2.525	0.80722	D	1	P;B;B	0.38395	0.629;0.043;0.046	B;B;B	0.37239	0.244;0.062;0.028	T	0.65005	-0.6273	9	0.28530	T	0.3	-16.0352	14.1622	0.65454	1.0:0.0:0.0:0.0	.	5;5;5	Q6ZPA8;Q9Y535-2;Q9Y535	.;.;RPC8_HUMAN	G	5	.	ENSP00000337627:V5G	V	-	2	0	POLR3H	40270038	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.394000	0.90185	1.940000	0.56252	0.459000	0.35465	GTG	POLR3H	-	superfamily_RNA_pol_Rpb7_N,tigrfam_RNAP_E/RPC8	ENSG00000100413		0.627	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3H	HGNC	protein_coding	OTTHUMT00000320701.1	38	0.00	0	A	NM_138338		41940092	41940092	-1	no_errors	ENST00000355209	ensembl	human	known	69_37n	missense	39	22.00	11	SNP	1.000	C
POLR3K	51728	genome.wustl.edu	37	16	103474	103474	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:103474A>C	ENST00000293860.5	-	1	153		c.e1+1		SNRNP25_ENST00000383018.3_5'Flank	NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa						defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TTCGGGTCCCACCTTGCGGGT	0.706																																						dbGAP											0													52.0	45.0	48.0					16																	103474		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF051316	CCDS10395.1	16p13.3	2013-01-21	2002-08-29		ENSG00000161980	ENSG00000161980		"""RNA polymerase subunits"""	14121	protein-coding gene	gene with protein product		606007	"""polymerase (RNA) III (DNA directed) polypeptide K (12.3 kDa)"""			9869639, 10079944	Standard	NM_016310		Approved	RPC11	uc002cfi.2	Q9Y2Y1	OTTHUMG00000060722	ENST00000293860.5:c.111+1T>G	16.37:g.103474A>C			Q1W6H4|Q96S35	Splice_Site	SNP	-	e1+2	ENST00000293860.5	37	c.111+2	CCDS10395.1	16	.	.	.	.	.	.	.	.	.	.	a	13.84	2.358483	0.41801	.	.	ENSG00000161980	ENST00000293860	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9381	0.64036	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POLR3K	43474	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.690000	0.68241	2.025000	0.59659	0.383000	0.25322	.	POLR3K	-	-	ENSG00000161980		0.706	POLR3K-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	POLR3K	HGNC	protein_coding	OTTHUMT00000134192.1	56	0.00	0	A	NM_016310	Intron	103474	103474	-1	no_errors	ENST00000293860	ensembl	human	known	69_37n	splice_site	68	19.77	17	SNP	1.000	C
POU2F2	5452	genome.wustl.edu	37	19	42626661	42626661	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:42626661A>C	ENST00000526816.2	-	2	110		c.e2+1		POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000560398.1_Splice_Site|POU2F2_ENST00000560558.1_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000524801.2_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000533720.1_Splice_Site			P09086	PO2F2_HUMAN	POU class 2 homeobox 2						cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CTGCCCACCCACCTGTGTGCT	0.622																																						dbGAP											0													58.0	56.0	57.0					19																	42626661		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.94+1T>G	19.37:g.42626661A>C			Q16648|Q7M4M8|Q9BRS4	Splice_Site	SNP	-	e2+2	ENST00000526816.2	37	c.94+2	CCDS56095.1	19	.	.	.	.	.	.	.	.	.	.	A	16.18	3.049225	0.55110	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952;ENST00000531773	.	.	.	3.46	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8655	0.41140	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POU2F2	47318501	0.997000	0.39634	0.836000	0.33094	0.893000	0.52053	3.536000	0.53582	1.590000	0.49995	0.386000	0.25728	.	POU2F2	-	-	ENSG00000028277		0.622	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	HGNC	protein_coding	OTTHUMT00000387329.3	125	0.00	0	A		Intron	42626661	42626661	-1	no_errors	ENST00000342301	ensembl	human	known	69_37n	splice_site	170	14.93	30	SNP	0.986	C
POU5F1	5460	genome.wustl.edu	37	6	31133755	31133755	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:31133755T>G	ENST00000259915.8	-	2	547	c.475A>C	c.(475-477)Acc>Ccc	p.T159P	POU5F1_ENST00000441888.3_5'UTR|POU5F1_ENST00000471529.2_5'UTR|POU5F1_ENST00000512818.1_5'UTR|POU5F1_ENST00000606567.1_5'UTR|POU5F1_ENST00000513407.1_5'UTR	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	159	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	TATCCCAGGGTGATCCTCTTC	0.507			T	EWSR1	sarcoma																																	dbGAP		Dom	yes		6	6p21.31	5460	"""POU domain, class 5, transcription factor 1"""		M	0													69.0	70.0	70.0					6																	31133755		2203	4297	6500	-	-	-	SO:0001583	missense	0			Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.475A>C	6.37:g.31133755T>G	ENSP00000259915:p.Thr159Pro		A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.T159P	ENST00000259915.8	37	c.475	CCDS34391.1	6	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299935	0.81136	.	.	ENSG00000204531	ENST00000541552;ENST00000259915	D	0.84146	-1.81	5.04	5.04	0.67666	POU-specific (4);Lambda repressor-like, DNA-binding (2);POU (1);	0.000000	0.42172	D	0.000749	D	0.87442	0.6178	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.923;0.998	D	0.89020	0.3434	10	0.87932	D	0	.	8.5205	0.33273	0.1725:0.0:0.0:0.8274	.	159;64	Q01860;D2IYK4	PO5F1_HUMAN;.	P	64;159	ENSP00000259915:T159P	ENSP00000259915:T159P	T	-	1	0	POU5F1	31241734	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	4.951000	0.63610	2.031000	0.59945	0.519000	0.50382	ACC	POU5F1	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU	ENSG00000204531		0.507	POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1	HGNC	protein_coding	OTTHUMT00000076413.4	336	0.29	1	T	NM_002701		31133755	31133755	-1	no_errors	ENST00000259915	ensembl	human	known	69_37n	missense	218	12.00	30	SNP	1.000	G
PPAN	56342	genome.wustl.edu	37	19	10218532	10218532	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:10218532T>G	ENST00000253107.7	+	4	448		c.e4+2		PPAN_ENST00000393793.1_Splice_Site|PPAN-P2RY11_ENST00000428358.1_Splice_Site|PPAN-P2RY11_ENST00000393796.4_Splice_Site|SNORD105B_ENST00000458770.1_RNA|PPAN_ENST00000556468.1_Splice_Site|SNORD105_ENST00000386910.1_RNA	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)						RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GTCAAGAAGGTGAGAGGGGTG	0.592																																						dbGAP											0													75.0	89.0	84.0					19																	10218532		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.342+2T>G	19.37:g.10218532T>G			C9J3F9|Q9BW97|Q9H170	Splice_Site	SNP	-	e4+2	ENST00000253107.7	37	c.342+2	CCDS12225.1	19	.	.	.	.	.	.	.	.	.	.	T	13.89	2.371799	0.42003	.	.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793;ENST00000446223;ENST00000430370	.	.	.	5.5	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3078	0.43691	0.0:0.079:0.0:0.921	.	.	.	.	.	-1	.	.	.	+	.	.	PPAN;PPAN-P2RY11	10079532	1.000000	0.71417	0.847000	0.33407	0.494000	0.33585	4.352000	0.59404	0.933000	0.37291	0.459000	0.35465	.	PPAN-P2RY11	-	-	ENSG00000243207		0.592	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	HGNC	protein_coding	OTTHUMT00000316658.1	213	0.93	2	T	NM_020230	Intron	10218532	10218532	+1	no_errors	ENST00000393796	ensembl	human	known	69_37n	splice_site	202	11.40	26	SNP	0.992	G
PPAT	5471	genome.wustl.edu	37	4	57301633	57301633	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:57301633T>C	ENST00000264220.2	-	1	148	c.11A>G	c.(10-12)gAg>gGg	p.E4G	PAICS_ENST00000514888.1_5'Flank|PAICS_ENST00000264221.2_5'Flank|PAICS_ENST00000512576.1_5'Flank|PAICS_ENST00000399688.3_5'Flank	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	4					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	CCCCAACTCCTCCAGCTCCAT	0.632																																						dbGAP											0													94.0	86.0	89.0					4																	57301633		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.11A>G	4.37:g.57301633T>C	ENSP00000264220:p.Glu4Gly			Missense_Mutation	SNP	pfam_GATase_dom,pfam_PRibTrfase,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans	p.E4G	ENST00000264220.2	37	c.11	CCDS3505.1	4	.	.	.	.	.	.	.	.	.	.	T	28.0	4.880561	0.91740	.	.	ENSG00000128059	ENST00000264220	T	0.65178	-0.14	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.69584	0.3127	L	0.42245	1.32	0.80722	D	1	D	0.67145	0.996	P	0.62649	0.905	T	0.68123	-0.5492	10	0.35671	T	0.21	-20.9452	14.7901	0.69833	0.0:0.0:0.0:1.0	.	4	Q06203	PUR1_HUMAN	G	4	ENSP00000264220:E4G	ENSP00000264220:E4G	E	-	2	0	PPAT	56996390	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	7.076000	0.76806	2.161000	0.67846	0.459000	0.35465	GAG	PPAT	-	pirsf_Amd_phspho_trans	ENSG00000128059		0.632	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAT	HGNC	protein_coding	OTTHUMT00000250781.2	58	0.00	0	T	NM_002703		57301633	57301633	-1	no_errors	ENST00000264220	ensembl	human	known	69_37n	missense	33	21.43	9	SNP	1.000	C
PPP1R17	10842	genome.wustl.edu	37	7	31735222	31735222	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:31735222A>C	ENST00000342032.3	+	3	850	c.222A>C	c.(220-222)ccA>ccC	p.P74P	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	PPR17_HUMAN	protein phosphatase 1, regulatory subunit 17	74					central nervous system development (GO:0007417)|intracellular signal transduction (GO:0035556)|regulation of phosphatase activity (GO:0010921)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)										TGCACATCCCACCTTTCATAC	0.433																																						dbGAP											0													121.0	119.0	119.0					7																	31735222		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF071789	CCDS5436.1, CCDS47570.1	7p15	2012-04-17	2011-10-11	2011-10-11	ENSG00000106341	ENSG00000106341		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16973	protein-coding gene	gene with protein product	"""G-substrate"""	604088	"""chromosome 7 open reading frame 16"""	C7orf16		10051666, 9920894	Standard	NM_006658		Approved	GSBS	uc003tcl.3	O96001	OTTHUMG00000128629	ENST00000342032.3:c.222A>C	7.37:g.31735222A>C			B4DE58|Q9UDQ0	Silent	SNP	NULL	p.P74	ENST00000342032.3	37	c.222	CCDS5436.1	7																																																																																			PPP1R17	-	NULL	ENSG00000106341		0.433	PPP1R17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R17	HGNC	protein_coding	OTTHUMT00000250498.1	176	0.56	1	A	NM_006658		31735222	31735222	+1	no_errors	ENST00000342032	ensembl	human	known	69_37n	silent	110	15.91	21	SNP	0.050	C
PDE1B	5153	genome.wustl.edu	37	12	54970872	54970872	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:54970872T>G	ENST00000243052.3	+	15	1943				PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000550620.1_Intron|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000538346.1_Intron	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent						activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TCTTCCCAAGTGGGGATGGGT	0.512																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1508-137T>G	12.37:g.54970872T>G			Q92825|Q96KP3	RNA	SNP	-	NULL	ENST00000243052.3	37	NULL	CCDS8882.1	12																																																																																			PPP1R1A	-	-	ENSG00000135447		0.512	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406203.1	43	0.00	0	T			54970872	54970872	-1	no_errors	ENST00000547431	ensembl	human	known	69_37n	rna	16	20.00	4	SNP	0.000	G
PPP1R1A	5502	genome.wustl.edu	37	12	54975818	54975818	+	Silent	SNP	T	T	G	rs11609613		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:54975818T>G	ENST00000257905.8	-	5	515	c.345A>C	c.(343-345)ccA>ccC	p.P115P	PPP1R1A_ENST00000547431.1_Intron	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	115					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						GGATCCCAGGTGGGCGGGACT	0.592																																						dbGAP											0													72.0	73.0	73.0					12																	54975818		1898	4118	6016	-	-	-	SO:0001819	synonymous_variant	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.345A>C	12.37:g.54975818T>G			Q6IB01|Q8TBJ2|Q8WWV2	Silent	SNP	pfam_PPI_1DARPP-32	p.P115	ENST00000257905.8	37	c.345	CCDS44912.1	12																																																																																			PPP1R1A	-	pfam_PPI_1DARPP-32	ENSG00000135447		0.592	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406604.1	137	0.00	0	T	NM_006741		54975818	54975818	-1	no_errors	ENST00000257905	ensembl	human	known	69_37n	silent	99	15.25	18	SNP	0.998	G
PPP6R2	9701	genome.wustl.edu	37	22	50854567	50854567	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:50854567A>C	ENST00000216061.5	+	7	969	c.599A>C	c.(598-600)cAc>cCc	p.H200P	PPP6R2_ENST00000359139.3_Missense_Mutation_p.H200P|PPP6R2_ENST00000395741.3_Missense_Mutation_p.H200P|PPP6R2_ENST00000395744.3_Missense_Mutation_p.H200P			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	200						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GAGTTGATCCACCCGAGCCAG	0.552																																						dbGAP											0													124.0	103.0	110.0					22																	50854567		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.599A>C	22.37:g.50854567A>C	ENSP00000216061:p.His200Pro		A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Missense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.H200P	ENST00000216061.5	37	c.599		22	.	.	.	.	.	.	.	.	.	.	A	16.06	3.016024	0.54468	.	.	ENSG00000100239	ENST00000359139;ENST00000395741;ENST00000395744;ENST00000216061	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.57242	0.2040	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;0.997	D;D;D;D;D	0.79784	0.992;0.993;0.976;0.988;0.976	T	0.62863	-0.6764	10	0.72032	D	0.01	-20.444	13.5452	0.61699	1.0:0.0:0.0:0.0	.	200;200;200;200;200	O75170-5;O75170;O75170-3;O75170-4;O75170-2	.;PP6R2_HUMAN;.;.;.	P	200	ENSP00000352051:H200P;ENSP00000379090:H200P;ENSP00000379093:H200P;ENSP00000216061:H200P	ENSP00000216061:H200P	H	+	2	0	PPP6R2	49201433	1.000000	0.71417	0.952000	0.39060	0.178000	0.23041	6.910000	0.75741	2.093000	0.63338	0.374000	0.22700	CAC	PPP6R2	-	pfam_SAPS,superfamily_ARM-type_fold	ENSG00000100239		0.552	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	146	0.00	0	A	NM_014678		50854567	50854567	+1	no_errors	ENST00000216061	ensembl	human	known	69_37n	missense	122	15.17	22	SNP	0.998	C
PPRC1	23082	genome.wustl.edu	37	10	103900659	103900659	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:103900659A>C	ENST00000278070.2	+	5	2433	c.2394A>C	c.(2392-2394)ccA>ccC	p.P798P	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Silent_p.P798P	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	798	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TTGTCATCCCACCAGCCCCAG	0.572																																						dbGAP											0													84.0	84.0	84.0					10																	103900659		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.2394A>C	10.37:g.103900659A>C			Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P798	ENST00000278070.2	37	c.2394	CCDS7529.1	10																																																																																			PPRC1	-	NULL	ENSG00000148840		0.572	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	116	0.00	0	A	NM_015062		103900659	103900659	+1	no_errors	ENST00000278070	ensembl	human	known	69_37n	silent	54	21.74	15	SNP	0.021	C
PRAMEF2	65122	genome.wustl.edu	37	1	12918965	12918965	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:12918965T>G	ENST00000240189.2	+	2	188	c.101T>G	c.(100-102)gTg>gGg	p.V34G		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	34					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCCAGGGTGCTCTATCTC	0.617																																						dbGAP											0													101.0	110.0	107.0					1																	12918965		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.101T>G	1.37:g.12918965T>G	ENSP00000240189:p.Val34Gly			Missense_Mutation	SNP	NULL	p.V34G	ENST00000240189.2	37	c.101	CCDS149.1	1	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.900753	0.00517	.	.	ENSG00000120952	ENST00000240189	T	0.04551	3.6	0.842	-1.68	0.08212	.	0.211100	0.38005	N	0.001841	T	0.02533	0.0077	N	0.17723	0.515	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.48658	-0.9016	10	0.51188	T	0.08	.	0.3637	0.00368	0.4019:0.201:0.2012:0.1958	.	34	O60811	PRAM2_HUMAN	G	34	ENSP00000240189:V34G	ENSP00000240189:V34G	V	+	2	0	PRAMEF2	12841552	0.176000	0.23096	0.000000	0.03702	0.000000	0.00434	-0.077000	0.11394	-4.086000	0.00075	-3.826000	0.00019	GTG	PRAMEF2	-	NULL	ENSG00000120952		0.617	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF2	HGNC	protein_coding	OTTHUMT00000005517.1	228	0.43	1	T	NM_023014		12918965	12918965	+1	no_errors	ENST00000240189	ensembl	human	known	69_37n	missense	188	13.36	29	SNP	0.000	G
PRDM2	7799	genome.wustl.edu	37	1	14107347	14107347	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:14107347A>C	ENST00000235372.7	+	8	3913	c.3057A>C	c.(3055-3057)ccA>ccC	p.P1019P	PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Silent_p.P1019P|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.P818P|PRDM2_ENST00000343137.4_Silent_p.P818P|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1019	Pro-rich.				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)		CACAGTCCCCACTTCCAATTC	0.617																																						dbGAP											0													142.0	121.0	128.0					1																	14107347		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.3057A>C	1.37:g.14107347A>C			B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.P1019	ENST00000235372.7	37	c.3057	CCDS150.1	1																																																																																			PRDM2	-	pirsf_RIZ_retinblastoma-bd_prot	ENSG00000116731		0.617	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	126	0.00	0	A	NM_012231		14107347	14107347	+1	no_errors	ENST00000235372	ensembl	human	known	69_37n	silent	178	13.17	27	SNP	0.947	C
PRDX5	25824	genome.wustl.edu	37	11	64088235	64088235	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:64088235T>G	ENST00000265462.4	+	3	537	c.409T>G	c.(409-411)Tgg>Ggg	p.W137G	TRMT112_ENST00000544844.1_5'Flank|PRDX5_ENST00000347941.4_Intron|PRDX5_ENST00000352435.4_Intron	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	137	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	GACTGGCGAGTGGGGCCGAGC	0.577																																						dbGAP											0													136.0	139.0	138.0					11																	64088235		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"""antioxidant enzyme B166"", ""thioredoxin peroxidase PMP20"", ""peroxisomal antioxidant enzyme"", ""TPx type VI"", ""liver tissue 2D-page spot 71B"", ""Alu co-repressor 1"""	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.409T>G	11.37:g.64088235T>G	ENSP00000265462:p.Trp137Gly		A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Missense_Mutation	SNP	pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold	p.W137G	ENST00000265462.4	37	c.409	CCDS8069.1	11	.	.	.	.	.	.	.	.	.	.	T	18.86	3.713216	0.68730	.	.	ENSG00000126432	ENST00000265462	T	0.67865	-0.29	4.66	4.66	0.58398	Redoxin (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	D	0.88444	0.6438	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92168	0.5741	10	0.87932	D	0	-12.4553	12.4269	0.55553	0.0:0.0:0.0:1.0	.	137	P30044	PRDX5_HUMAN	G	137	ENSP00000265462:W137G	ENSP00000265462:W137G	W	+	1	0	PRDX5	63844811	1.000000	0.71417	0.991000	0.47740	0.690000	0.40134	3.567000	0.53813	1.887000	0.54652	0.529000	0.55759	TGG	PRDX5	-	pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold	ENSG00000126432		0.577	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX5	HGNC	protein_coding	OTTHUMT00000401148.1	239	0.83	2	T	NM_181651		64088235	64088235	+1	no_errors	ENST00000265462	ensembl	human	known	69_37n	missense	186	11.85	25	SNP	1.000	G
PREB	10113	genome.wustl.edu	37	2	27356091	27356091	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:27356091A>C	ENST00000260643.2	-	3	693	c.440T>G	c.(439-441)gTg>gGg	p.V147G	PREB_ENST00000406567.3_Missense_Mutation_p.V147G|PREB_ENST00000416802.1_5'UTR	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	147					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCTGTCTGCACCGCCTGCAA	0.552																																						dbGAP											0													288.0	302.0	297.0					2																	27356091		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.440T>G	2.37:g.27356091A>C	ENSP00000260643:p.Val147Gly		Q53SZ8|Q9UH94	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V147G	ENST00000260643.2	37	c.440	CCDS1738.1	2	.	.	.	.	.	.	.	.	.	.	A	17.83	3.485130	0.63962	.	.	ENSG00000138073	ENST00000260643;ENST00000406567;ENST00000546336	D;D	0.82619	-1.61;-1.63	5.55	5.55	0.83447	.	0.126215	0.52532	D	0.000072	D	0.89784	0.6815	M	0.78801	2.425	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.65233	0.852;0.933	D	0.90151	0.4221	10	0.49607	T	0.09	-14.1476	13.624	0.62153	1.0:0.0:0.0:0.0	.	147;147	B5MC98;Q9HCU5	.;PREB_HUMAN	G	147	ENSP00000260643:V147G;ENSP00000384032:V147G	ENSP00000260643:V147G	V	-	2	0	PREB	27209595	1.000000	0.71417	0.994000	0.49952	0.561000	0.35649	8.296000	0.89940	2.113000	0.64589	0.402000	0.26972	GTG	PREB	-	smart_WD40_repeat	ENSG00000138073		0.552	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREB	HGNC	protein_coding	OTTHUMT00000214195.1	282	0.00	0	A	NM_013388		27356091	27356091	-1	no_errors	ENST00000260643	ensembl	human	known	69_37n	missense	212	18.15	47	SNP	1.000	C
PREX2	80243	genome.wustl.edu	37	8	68942790	68942790	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:68942790T>C	ENST00000288368.4	+	6	879	c.602T>C	c.(601-603)cTc>cCc	p.L201P	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	201	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGGAAGCCCTCCAAGCCATG	0.463																																						dbGAP											0													103.0	89.0	94.0					8																	68942790		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.602T>C	8.37:g.68942790T>C	ENSP00000288368:p.Leu201Pro		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L201P	ENST00000288368.4	37	c.602	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629475	0.87660	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.72942	-0.7	6.16	6.16	0.99307	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.89518	0.6738	H	0.95850	3.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92567	0.6063	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	201;201;201	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	P	201	ENSP00000288368:L201P	ENSP00000288368:L201P	L	+	2	0	PREX2	69105344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	CTC	PREX2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000046889		0.463	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	111	0.00	0	T	NM_025170		68942790	68942790	+1	no_errors	ENST00000288368	ensembl	human	known	69_37n	missense	146	13.10	22	SNP	1.000	C
PRICKLE4	29964	genome.wustl.edu	37	6	41751240	41751240	+	5'Flank	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:41751240A>C	ENST00000394260.1	+	0	0				PRICKLE4_ENST00000394259.1_5'Flank|PRICKLE4_ENST00000394263.1_Missense_Mutation_p.H10P|PRICKLE4_ENST00000359201.5_Missense_Mutation_p.H10P|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.H10P			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)							nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCTGGCCCCACCAAGAAGAC	0.557																																						dbGAP											0													90.0	90.0	90.0					6																	41751240		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AF216754	CCDS34449.1	6p21.1	2010-08-05	2007-09-18	2007-09-18	ENSG00000124593	ENSG00000124593			16805	protein-coding gene	gene with protein product		611389	"""chromosome 6 open reading frame 49"""	C6orf49		15702247	Standard	NM_013397		Approved	OEBT, DKFZp761H221	uc011duf.1	Q2TBC4	OTTHUMG00000014685		6.37:g.41751240A>C	Exception_encountered		A2A3M0|A6PVU1|B3KQ15|Q5T3D4|Q9NSV1	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM	p.H10P	ENST00000394260.1	37	c.29		6	.	.	.	.	.	.	.	.	.	.	A	12.51	1.958385	0.34565	.	.	ENSG00000124593	ENST00000458694;ENST00000359201;ENST00000394263	T;T;T	0.68025	-0.09;-0.3;-0.09	4.57	-3.11	0.05299	.	1.009040	0.07984	N	0.986066	T	0.23171	0.0560	N	0.22421	0.69	0.09310	N	1	B	0.31351	0.32	B	0.34991	0.193	T	0.19160	-1.0314	10	0.28530	T	0.3	-2.1723	0.8738	0.01220	0.3741:0.1599:0.2988:0.1672	.	10	Q2TBC4-3	.	P	10	ENSP00000404911:H10P;ENSP00000352128:H10P;ENSP00000377806:H10P	ENSP00000335185:H10P	H	+	2	0	PRICKLE4	41859218	0.000000	0.05858	0.001000	0.08648	0.460000	0.32559	-0.037000	0.12164	-0.348000	0.08286	-0.411000	0.06167	CAC	PRICKLE4	-	NULL	ENSG00000124593		0.557	PRICKLE4-007	KNOWN	basic	protein_coding	PRICKLE4	HGNC	protein_coding	OTTHUMT00000303948.1	177	0.00	0	A	NM_013397		41751240	41751240	+1	no_errors	ENST00000335515	ensembl	human	known	69_37n	missense	118	11.76	16	SNP	0.000	C
PRKAR2B	5577	genome.wustl.edu	37	7	106786855	106786855	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:106786855A>C	ENST00000265717.4	+	6	949	c.690A>C	c.(688-690)acA>acC	p.T230T		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	230					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TGTACAATACACCCAGAGCAG	0.413																																						dbGAP											0													191.0	163.0	172.0					7																	106786855		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.690A>C	7.37:g.106786855A>C			A4D0R9	Silent	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.T230	ENST00000265717.4	37	c.690	CCDS5740.1	7																																																																																			PRKAR2B	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom	ENSG00000005249		0.413	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2B	HGNC	protein_coding	OTTHUMT00000268386.1	184	0.00	0	A			106786855	106786855	+1	no_errors	ENST00000265717	ensembl	human	known	69_37n	silent	218	14.45	37	SNP	0.997	C
PRKCE	5581	genome.wustl.edu	37	2	46211691	46211691	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:46211691T>G	ENST00000306156.3	+	6	1022	c.695T>G	c.(694-696)gTg>gGg	p.V232G		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	232					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	TCCCTGCAGGTGGGCTCCCAG	0.542																																						dbGAP											0													125.0	135.0	132.0					2																	46211691		2066	4177	6243	-	-	-	SO:0001630	splice_region_variant	0				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.694-1T>G	2.37:g.46211691T>G			B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.V232G	ENST00000306156.3	37	c.695	CCDS1824.1	2	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073621	0.36566	.	.	ENSG00000171132	ENST00000306156	T	0.69040	-0.37	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	L	0.31420	0.93	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48990	-0.8985	10	0.22706	T	0.39	.	14.3978	0.67022	0.0:0.0:0.0:1.0	.	232	Q02156	KPCE_HUMAN	G	232	ENSP00000306124:V232G	ENSP00000306124:V232G	V	+	2	0	PRKCE	46065195	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.854000	0.86942	1.985000	0.57927	0.533000	0.62120	GTG	PRKCE	-	pirsf_Prot_kin_PKC_delta	ENSG00000171132		0.542	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2	122	0.81	1	T		Missense_Mutation	46211691	46211691	+1	no_errors	ENST00000306156	ensembl	human	known	69_37n	missense	73	19.57	18	SNP	1.000	G
PRKCE	5581	genome.wustl.edu	37	2	46386873	46386873	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:46386873A>C	ENST00000306156.3	+	14	2376	c.2049A>C	c.(2047-2049)ccA>ccC	p.P683P		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	683	AGC-kinase C-terminal.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	AGATCAAGCCACCCTTCAAAC	0.572																																						dbGAP											0													150.0	161.0	157.0					2																	46386873		1961	3915	5876	-	-	-	SO:0001819	synonymous_variant	0				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.2049A>C	2.37:g.46386873A>C			B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.P683	ENST00000306156.3	37	c.2049	CCDS1824.1	2																																																																																			PRKCE	-	superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta	ENSG00000171132		0.572	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCE	HGNC	protein_coding	OTTHUMT00000250751.2	259	0.38	1	A			46386873	46386873	+1	no_errors	ENST00000306156	ensembl	human	known	69_37n	silent	157	12.15	22	SNP	0.028	C
PRKD2	25865	genome.wustl.edu	37	19	47192799	47192799	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:47192799T>G	ENST00000291281.4	-	14	2191	c.1966A>C	c.(1966-1968)Acc>Ccc	p.T656P	PRKD2_ENST00000600194.1_Missense_Mutation_p.T499P|RN7SL364P_ENST00000473668.2_RNA|PRKD2_ENST00000601806.1_Missense_Mutation_p.T499P|PRKD2_ENST00000433867.1_Missense_Mutation_p.T656P|PRKD2_ENST00000595515.1_Missense_Mutation_p.T656P			Q9BZL6	KPCD2_HUMAN	protein kinase D2	656	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CGCACCTGGGTGATGAGGAAC	0.617																																						dbGAP											0													87.0	73.0	78.0					19																	47192799		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1966A>C	19.37:g.47192799T>G	ENSP00000291281:p.Thr656Pro		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.T656P	ENST00000291281.4	37	c.1966	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	T	15.99	2.995671	0.54147	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	D;D	0.82984	-1.67;-1.67	4.84	4.84	0.62591	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	0.80460	0.4627	L	0.42632	1.34	0.54753	D	0.999981	B;B;B	0.20887	0.045;0.005;0.049	B;B;B	0.33254	0.049;0.021;0.16	T	0.78590	-0.2145	10	0.56958	D	0.05	-37.6422	13.6962	0.62580	0.0:0.0:0.0:1.0	.	656;141;656	E7ER94;A0JLT6;Q9BZL6	.;.;KPCD2_HUMAN	P	656	ENSP00000291281:T656P;ENSP00000393978:T656P	ENSP00000291281:T656P	T	-	1	0	PRKD2	51884639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.177000	0.50871	1.933000	0.56026	0.533000	0.62120	ACC	PRKD2	-	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	ENSG00000105287		0.617	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	104	0.00	0	T	NM_016457		47192799	47192799	-1	no_errors	ENST00000291281	ensembl	human	known	69_37n	missense	100	19.84	25	SNP	1.000	G
PRKCG	5582	genome.wustl.edu	37	19	54401267	54401267	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:54401267A>C	ENST00000263431.3	+	10	1276	c.994A>C	c.(994-996)Acc>Ccc	p.T332P	PRKCG_ENST00000536044.1_Silent_p.P302P|PRKCG_ENST00000540413.1_Missense_Mutation_p.T332P|PRKCG_ENST00000542049.1_Missense_Mutation_p.T219P	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	332					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	cccTAGTCCCACCGACCCCAA	0.587																																						dbGAP											0													65.0	65.0	65.0					19																	54401267		2203	4300	6503	-	-	-	SO:0001583	missense	0			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.994A>C	19.37:g.54401267A>C	ENSP00000263431:p.Thr332Pro		B7Z8Q0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.T332P	ENST00000263431.3	37	c.994	CCDS12867.1	19	.	.	.	.	.	.	.	.	.	.	A	14.67	2.604453	0.46423	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.70749	-0.51;-0.5;-0.48	5.14	5.14	0.70334	Protein kinase-like domain (1);	.	.	.	.	T	0.56804	0.2010	N	0.22421	0.69	0.48395	D	0.999645	B;B;B	0.15719	0.014;0.007;0.003	B;B;B	0.14578	0.004;0.011;0.008	T	0.52837	-0.8522	9	0.31617	T	0.26	.	13.2067	0.59800	1.0:0.0:0.0:0.0	.	219;332;332	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	P	332;332;219	ENSP00000443493:T332P;ENSP00000263431:T332P;ENSP00000438090:T219P	ENSP00000263431:T332P	T	+	1	0	PRKCG	59093079	0.965000	0.33210	0.996000	0.52242	0.992000	0.81027	2.216000	0.42871	2.085000	0.62840	0.397000	0.26171	ACC	PRKCG	-	pirsf_Protein_kinase_C_a/b/g	ENSG00000126583		0.587	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	HGNC	protein_coding	OTTHUMT00000139233.3	80	0.00	0	A	NM_002739		54401267	54401267	+1	no_errors	ENST00000540413	ensembl	human	known	69_37n	missense	122	13.38	19	SNP	1.000	C
PRKX	5613	genome.wustl.edu	37	X	3592657	3592657	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:3592657T>G	ENST00000262848.5	-	2	671	c.317A>C	c.(316-318)cAc>cCc	p.H106P		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GAGGAACGGGTGGCTGACTTC	0.557																																						dbGAP											0													245.0	156.0	186.0					X																	3592657		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.317A>C	X.37:g.3592657T>G	ENSP00000262848:p.His106Pro			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.H106P	ENST00000262848.5	37	c.317	CCDS14125.1	X	.	.	.	.	.	.	.	.	.	.	T	11.02	1.514758	0.27123	.	.	ENSG00000183943	ENST00000262848	T	0.78595	-1.19	2.44	2.44	0.29823	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	U	0.000000	D	0.89556	0.6749	H	0.95187	3.635	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.89217	0.3568	10	0.72032	D	0.01	-23.3463	8.9064	0.35526	0.0:0.0:0.0:1.0	.	106	P51817	PRKX_HUMAN	P	106	ENSP00000262848:H106P	ENSP00000262848:H106P	H	-	2	0	PRKX	3602657	1.000000	0.71417	0.601000	0.28877	0.029000	0.11900	6.451000	0.73481	0.682000	0.31407	0.229000	0.17801	CAC	PRKX	-	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	ENSG00000183943		0.557	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKX	HGNC	protein_coding	OTTHUMT00000055659.1	346	0.29	1	T	NM_005044		3592657	3592657	-1	no_errors	ENST00000262848	ensembl	human	known	69_37n	missense	144	10.56	17	SNP	1.000	G
PROSER1	80209	genome.wustl.edu	37	13	39587207	39587207	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:39587207T>G	ENST00000352251.3	-	11	3015	c.2182A>C	c.(2182-2184)Acc>Ccc	p.T728P	PROSER1_ENST00000350125.3_Missense_Mutation_p.T706P|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	728	Ser-rich.																GTAGATGAGGTGGCTATTAAT	0.498																																						dbGAP											0													193.0	204.0	201.0					13																	39587207		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2182A>C	13.37:g.39587207T>G	ENSP00000332034:p.Thr728Pro		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.T706P	ENST00000352251.3	37	c.2116	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	T	13.25	2.181842	0.38511	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.33654	1.4;1.4	5.21	4.02	0.46733	.	.	.	.	.	T	0.44265	0.1285	L	0.32530	0.975	0.38951	D	0.958347	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.929	T	0.32719	-0.9896	8	.	.	.	-14.0458	10.3172	0.43745	0.0:0.0785:0.0:0.9215	.	706;728	A6NJ97;Q86XN7	.;PRSR1_HUMAN	P	728;706	ENSP00000332034:T728P;ENSP00000339123:T706P	.	T	-	1	0	PROSER1	38485207	1.000000	0.71417	0.900000	0.35374	0.048000	0.14542	1.073000	0.30691	0.917000	0.36895	0.459000	0.35465	ACC	PROSER1	-	NULL	ENSG00000120685		0.498	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	418	0.71	3	T	NM_025138		39587207	39587207	-1	no_errors	ENST00000350125	ensembl	human	known	69_37n	missense	336	12.47	48	SNP	0.981	G
PRPF31	26121	genome.wustl.edu	37	19	54626899	54626899	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:54626899A>C	ENST00000321030.4	+	6	836	c.487A>C	c.(487-489)Acc>Ccc	p.T163P	PRPF31_ENST00000391755.1_Missense_Mutation_p.T163P|PRPF31_ENST00000419967.1_Missense_Mutation_p.T163P|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	163					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACCAATGCCACCATCATGGT	0.612																																						dbGAP											0													172.0	144.0	154.0					19																	54626899		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.487A>C	19.37:g.54626899A>C	ENSP00000324122:p.Thr163Pro		Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC	p.T163P	ENST00000321030.4	37	c.487	CCDS12879.1	19	.	.	.	.	.	.	.	.	.	.	A	26.2	4.715261	0.89112	.	.	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000447810;ENST00000391755	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	D	0.89305	0.6677	M	0.91249	3.19	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.67548	0.952;0.914	D	0.91466	0.5193	10	0.66056	D	0.02	-52.7131	13.5494	0.61723	1.0:0.0:0.0:0.0	.	163;163	E7ESA8;Q8WWY3	.;PRP31_HUMAN	P	163	ENSP00000324122:T163P;ENSP00000395894:T163P;ENSP00000405166:T163P;ENSP00000408980:T163P;ENSP00000395089:T163P;ENSP00000375635:T163P	ENSP00000263436:T163P	T	+	1	0	PRPF31	59318711	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.478000	0.90428	1.924000	0.55735	0.533000	0.62120	ACC	PRPF31	-	NULL	ENSG00000105618		0.612	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF31	HGNC	protein_coding	OTTHUMT00000141417.2	156	0.64	1	A			54626899	54626899	+1	no_errors	ENST00000321030	ensembl	human	known	69_37n	missense	92	15.60	17	SNP	1.000	C
PRPF8	10594	genome.wustl.edu	37	17	1577787	1577787	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:1577787T>G	ENST00000572621.1	-	20	3513	c.3248A>C	c.(3247-3249)cAc>cCc	p.H1083P	PRPF8_ENST00000304992.6_Missense_Mutation_p.H1083P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1083	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ACGGATGGGGTGGGCAGCCTC	0.527																																						dbGAP											0													149.0	145.0	146.0					17																	1577787		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3248A>C	17.37:g.1577787T>G	ENSP00000460348:p.His1083Pro		O14547|O75965	Missense_Mutation	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1	p.H1083P	ENST00000572621.1	37	c.3248	CCDS11010.1	17	.	.	.	.	.	.	.	.	.	.	T	27.1	4.803863	0.90623	.	.	ENSG00000174231	ENST00000304992	D	0.81579	-1.51	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.92107	0.7498	M	0.93898	3.47	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.94078	0.7341	10	0.87932	D	0	.	15.3304	0.74203	0.0:0.0:0.0:1.0	.	1083	Q6P2Q9	PRP8_HUMAN	P	1083	ENSP00000304350:H1083P	ENSP00000304350:H1083P	H	-	2	0	PRPF8	1524537	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.868000	0.87116	2.212000	0.71576	0.260000	0.18958	CAC	PRPF8	-	superfamily_Cupredoxin	ENSG00000174231		0.527	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2	146	0.00	0	T			1577787	1577787	-1	no_errors	ENST00000304992	ensembl	human	known	69_37n	missense	86	14.71	15	SNP	1.000	G
PRR14	78994	genome.wustl.edu	37	16	30664296	30664296	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:30664296A>C	ENST00000542965.2	+	4	832	c.376A>C	c.(376-378)Acc>Ccc	p.T126P	PRR14_ENST00000300835.4_Missense_Mutation_p.T126P			Q9BWN1	PRR14_HUMAN	proline rich 14	126	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GACCTCTTCCACCCTGAGGCG	0.632																																						dbGAP											0													43.0	48.0	47.0					16																	30664296		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.376A>C	16.37:g.30664296A>C	ENSP00000441641:p.Thr126Pro		Q8WTX2	Missense_Mutation	SNP	NULL	p.T126P	ENST00000542965.2	37	c.376	CCDS10687.1	16	.	.	.	.	.	.	.	.	.	.	A	18.29	3.590697	0.66219	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.49432	0.78;0.78	5.35	0.205	0.15204	.	0.662303	0.13885	N	0.356035	T	0.50394	0.1613	M	0.62723	1.935	0.09310	N	1	P	0.52061	0.95	P	0.53809	0.735	T	0.38478	-0.9659	10	0.49607	T	0.09	-4.6506	4.8663	0.13609	0.5954:0.1494:0.2553:0.0	.	126	Q9BWN1	PRR14_HUMAN	P	99;126;126	ENSP00000300835:T126P;ENSP00000441641:T126P	ENSP00000287463:T99P	T	+	1	0	PRR14	30571797	0.001000	0.12720	0.000000	0.03702	0.051000	0.14879	0.602000	0.24134	0.004000	0.14682	0.477000	0.44152	ACC	PRR14	-	NULL	ENSG00000156858		0.632	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR14	HGNC	protein_coding	OTTHUMT00000434433.1	68	0.00	0	A	NM_024031		30664296	30664296	+1	no_errors	ENST00000300835	ensembl	human	known	69_37n	missense	97	19.01	23	SNP	0.000	C
PRR19	284338	genome.wustl.edu	37	19	42814039	42814039	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:42814039A>C	ENST00000499536.2	+	1	1114	c.303A>C	c.(301-303)acA>acC	p.T101T	PRR19_ENST00000598490.1_Silent_p.T101T|PRR19_ENST00000341747.3_Silent_p.T101T			A6NJB7	PRR19_HUMAN	proline rich 19	101										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GCAGCCCCACACTCCCCGCCA	0.667																																						dbGAP											0													40.0	51.0	47.0					19																	42814039		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.303A>C	19.37:g.42814039A>C			A8K663|B3KW48|Q6P584	Silent	SNP	NULL	p.T101	ENST00000499536.2	37	c.303	CCDS33036.1	19																																																																																			PRR19	-	NULL	ENSG00000188368		0.667	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR19	HGNC	protein_coding	OTTHUMT00000463735.1	81	0.00	0	A	NM_199285		42814039	42814039	+1	no_errors	ENST00000341747	ensembl	human	known	69_37n	silent	36	18.18	8	SNP	0.000	C
PRSS36	146547	genome.wustl.edu	37	16	31154978	31154978	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:31154978T>G	ENST00000268281.4	-	7	959	c.901A>C	c.(901-903)Acc>Ccc	p.T301P	PRSS36_ENST00000569305.1_Missense_Mutation_p.T301P|PRSS36_ENST00000418068.2_Missense_Mutation_p.T301P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	301						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						TGGGGCTGGGTGGGAAAGGCA	0.622																																						dbGAP											0													75.0	81.0	79.0					16																	31154978		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.901A>C	16.37:g.31154978T>G	ENSP00000268281:p.Thr301Pro		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.T301P	ENST00000268281.4	37	c.901	CCDS32436.1	16	.	.	.	.	.	.	.	.	.	.	T	1.151	-0.646767	0.03506	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.89123	-2.47;-2.47	4.41	0.469	0.16741	.	.	.	.	.	T	0.75361	0.3839	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.60737	-0.7204	9	0.33940	T	0.23	.	3.7156	0.08437	0.0:0.1823:0.4587:0.359	.	301;301;301	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	P	301	ENSP00000268281:T301P;ENSP00000407160:T301P	ENSP00000268281:T301P	T	-	1	0	PRSS36	31062479	0.000000	0.05858	0.287000	0.24848	0.371000	0.29859	-0.795000	0.04580	0.210000	0.20664	0.459000	0.35465	ACC	PRSS36	-	pirsf_Pept_S1A_polyserase-2	ENSG00000178226		0.622	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	85	0.00	0	T	NM_173502		31154978	31154978	-1	no_errors	ENST00000268281	ensembl	human	known	69_37n	missense	140	14.63	24	SNP	0.133	G
PRSS36	146547	genome.wustl.edu	37	16	31157217	31157217	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:31157217T>G	ENST00000268281.4	-	6	671	c.613A>C	c.(613-615)Acc>Ccc	p.T205P	PRSS36_ENST00000569305.1_Missense_Mutation_p.T205P|PRSS36_ENST00000418068.2_Missense_Mutation_p.T205P	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	205	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CATTGACAGGTGGCCTCGCCC	0.607																																						dbGAP											0													54.0	50.0	51.0					16																	31157217		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.613A>C	16.37:g.31157217T>G	ENSP00000268281:p.Thr205Pro		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.T205P	ENST00000268281.4	37	c.613	CCDS32436.1	16	.	.	.	.	.	.	.	.	.	.	T	9.906	1.208311	0.22205	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.89617	-2.54;-2.54	5.45	2.17	0.27698	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.87249	0.6130	M	0.84219	2.685	0.23180	N	0.998167	B;B;B	0.28470	0.077;0.213;0.213	B;B;B	0.28784	0.071;0.066;0.094	T	0.77606	-0.2525	9	0.39692	T	0.17	.	5.1002	0.14754	0.1629:0.6586:0.0:0.1785	.	205;205;205	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	P	205	ENSP00000268281:T205P;ENSP00000407160:T205P	ENSP00000268281:T205P	T	-	1	0	PRSS36	31064718	0.001000	0.12720	0.642000	0.29436	0.189000	0.23516	-0.419000	0.07071	0.674000	0.31244	-0.608000	0.04076	ACC	PRSS36	-	pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000178226		0.607	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRSS36	HGNC	protein_coding	OTTHUMT00000433542.1	90	0.00	0	T	NM_173502		31157217	31157217	-1	no_errors	ENST00000268281	ensembl	human	known	69_37n	missense	92	13.08	14	SNP	0.549	G
PSTPIP1	9051	genome.wustl.edu	37	15	77310855	77310855	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:77310855T>G	ENST00000558012.1	+	3	684	c.195T>G	c.(193-195)ggT>ggG	p.G65G	PSTPIP1_ENST00000559295.1_Silent_p.G65G|PSTPIP1_ENST00000379595.3_Silent_p.G65G|PSTPIP1_ENST00000267939.5_Silent_p.G64G	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	65	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				cell adhesion (GO:0007155)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|signal transduction (GO:0007165)	actomyosin contractile ring (GO:0005826)|cell projection (GO:0042995)|cleavage furrow (GO:0032154)|cytosol (GO:0005829)|membrane (GO:0016020)|stress fiber (GO:0001725)				breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GGAAGGCAGGTGGCCAGACGG	0.572																																						dbGAP											0													30.0	37.0	35.0					15																	77310855		1978	4145	6123	-	-	-	SO:0001819	synonymous_variant	0			U94778	CCDS45312.1	15q24.3	2014-09-17			ENSG00000140368	ENSG00000140368			9580	protein-coding gene	gene with protein product	"""CD2 cytoplasmic tail-binding protein"", ""CD2 antigen-binding protein 1"", ""PEST phosphatase-interacting protein 1"""	606347				9857189	Standard	NM_003978		Approved	PSTPIP, CD2BP1L, CD2BP1, CD2BP1S, H-PIP, PAPAS	uc002bcf.2	O43586	OTTHUMG00000172594	ENST00000558012.1:c.195T>G	15.37:g.77310855T>G			B5BU74|B5BUK4|O43585|O95657	Silent	SNP	pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH	p.G130	ENST00000558012.1	37	c.390	CCDS45312.1	15																																																																																			PSTPIP1	-	pfam_FCH,superfamily_Prismane-like,smart_FCH,pfscan_FCH	ENSG00000140368		0.572	PSTPIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTPIP1	HGNC	protein_coding	OTTHUMT00000419373.2	111	0.00	0	T	NM_003978		77310855	77310855	+1	no_errors	ENST00000559785	ensembl	human	known	69_37n	silent	95	11.21	12	SNP	0.229	G
PTCH1	5727	genome.wustl.edu	37	9	98209258	98209258	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:98209258A>C	ENST00000331920.6	-	23	4579	c.4280T>G	c.(4279-4281)gTg>gGg	p.V1427G	PTCH1_ENST00000429896.2_Missense_Mutation_p.V1276G|PTCH1_ENST00000437951.1_Missense_Mutation_p.V1361G|PTCH1_ENST00000418258.1_Missense_Mutation_p.V1276G|PTCH1_ENST00000421141.1_Missense_Mutation_p.V1276G|PTCH1_ENST00000375274.2_Missense_Mutation_p.V1426G|PTCH1_ENST00000430669.2_Missense_Mutation_p.V1361G	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1427					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AATGACTTCCACCTTCGAATC	0.622																																						dbGAP											0													111.0	110.0	111.0					9																	98209258		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.4280T>G	9.37:g.98209258A>C	ENSP00000332353:p.Val1427Gly		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.V1427G	ENST00000331920.6	37	c.4280	CCDS6714.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.76|19.76	3.887622|3.887622	0.72410|0.72410	.|.	.|.	ENSG00000185920|ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000429896;ENST00000375274|ENST00000375284	D;D;D;D;D;D;D|.	0.90563|.	-2.68;-2.67;-2.65;-2.65;-2.67;-2.65;-2.69|.	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	0.124291|.	0.53938|.	D|.	0.000057|.	T|T	0.54743|0.54743	0.1877|0.1877	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	P;P;P|.	0.48503|.	0.911;0.853;0.481|.	P;B;B|.	0.45232|.	0.474;0.326;0.174|.	T|T	0.51687|0.51687	-0.8674|-0.8674	10|5	0.87932|.	D|.	0|.	-22.4586|-22.4586	14.9709|14.9709	0.71232|0.71232	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1361;1426;1427|.	Q13635-3;Q13635-2;Q13635|.	.;.;PTC1_HUMAN|.	G|G	1427;1361;1276;1276;1361;1276;1426|219	ENSP00000332353:V1427G;ENSP00000389744:V1361G;ENSP00000399981:V1276G;ENSP00000396135:V1276G;ENSP00000410287:V1361G;ENSP00000414823:V1276G;ENSP00000364423:V1426G|.	ENSP00000332353:V1427G|.	V|W	-|-	2|1	0|0	PTCH1|PTCH1	97249079|97249079	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	5.676000|5.676000	0.68131|0.68131	2.120000|2.120000	0.65058|0.65058	0.533000|0.533000	0.62120|0.62120	GTG|TGG	PTCH1	-	NULL	ENSG00000185920		0.622	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	55	0.00	0	A	NM_000264		98209258	98209258	-1	no_errors	ENST00000331920	ensembl	human	known	69_37n	missense	51	19.05	12	SNP	1.000	C
PTK7	5754	genome.wustl.edu	37	6	43127555	43127555	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:43127555T>G	ENST00000230419.4	+	19	3124	c.2903T>G	c.(2902-2904)gTg>gGg	p.V968G	PTK7_ENST00000352931.2_Missense_Mutation_p.V912G|PTK7_ENST00000345201.2_Missense_Mutation_p.V928G|PTK7_ENST00000349241.2_Missense_Mutation_p.V838G|PTK7_ENST00000481273.1_Missense_Mutation_p.V976G	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	968	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CAGGCCTGGGTGCCGCTGCGC	0.627																																						dbGAP											0													85.0	69.0	75.0					6																	43127555		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2903T>G	6.37:g.43127555T>G	ENSP00000230419:p.Val968Gly		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V968G	ENST00000230419.4	37	c.2903	CCDS4884.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.7|27.7	4.855664|4.855664	0.91355|0.91355	.|.	.|.	ENSG00000112655|ENSG00000112655	ENST00000489707|ENST00000230419;ENST00000325774;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000473339	.|D;D;D;D;D;D	.|0.84516	.|-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.59|5.59	5.59|5.59	0.84812|0.84812	.|Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.|0.062977	.|0.64402	.|D	.|0.000006	D|D	0.82518|0.82518	0.5054|0.5054	N|N	0.12831|0.12831	0.26|0.26	0.80722|0.80722	D|D	1|1	.|P;P;D;D;D;P;D	.|0.89917	.|0.854;0.874;1.0;0.957;0.972;0.913;0.96	.|P;P;D;P;P;P;P	.|0.77557	.|0.811;0.649;0.99;0.84;0.742;0.791;0.832	D|D	0.87752|0.87752	0.2592|0.2592	5|10	.|0.87932	.|D	.|0	.|.	16.0445|16.0445	0.80711|0.80711	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|976;294;313;838;928;912;968	.|E9PFZ5;F8W9X8;B3KP36;Q13308-3;Q13308-2;Q13308-4;Q13308	.|.;.;.;.;.;.;PTK7_HUMAN	G|G	263|968;294;838;912;928;976;236	.|ENSP00000230419:V968G;ENSP00000325462:V838G;ENSP00000326029:V912G;ENSP00000325992:V928G;ENSP00000418754:V976G;ENSP00000420186:V236G	.|ENSP00000230419:V968G	C|V	+|+	1|2	0|0	PTK7|PTK7	43235533|43235533	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.830000|7.830000	0.86741|0.86741	2.247000|2.247000	0.74100|0.74100	0.482000|0.482000	0.46254|0.46254	TGC|GTG	PTK7	-	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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000112655		0.627	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	HGNC	protein_coding	OTTHUMT00000040580.2	92	0.00	0	T			43127555	43127555	+1	no_errors	ENST00000230419	ensembl	human	known	69_37n	missense	69	21.11	19	SNP	1.000	G
PTMS	5763	genome.wustl.edu	37	12	6878794	6878794	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:6878794T>G	ENST00000309083.6	+	2	400	c.71T>G	c.(70-72)gTg>gGg	p.V24G	PTMS_ENST00000538057.1_3'UTR|PTMS_ENST00000389462.4_Missense_Mutation_p.V24G|LAG3_ENST00000441671.2_5'Flank|LAG3_ENST00000203629.2_5'Flank|MLF2_ENST00000539187.1_5'Flank	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN	parathymosin	24					DNA replication (GO:0006260)|immune system process (GO:0002376)	nucleus (GO:0005634)				endometrium(2)|large_intestine(2)|liver(1)	5						aaggagaaggtggaggagaag	0.557																																						dbGAP											0													161.0	163.0	162.0					12																	6878794		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8560.1	12p13	2008-07-10				ENSG00000159335			9629	protein-coding gene	gene with protein product		168440				15716277	Standard	NM_002824		Approved	ParaT	uc001qqq.3	P20962		ENST00000309083.6:c.71T>G	12.37:g.6878794T>G	ENSP00000310088:p.Val24Gly			Missense_Mutation	SNP	pfam_Pro/parathymosin	p.V24G	ENST00000309083.6	37	c.71	CCDS8560.1	12	.	.	.	.	.	.	.	.	.	.	T	13.08	2.128902	0.37533	.	.	ENSG00000159335	ENST00000389462;ENST00000540874;ENST00000309083;ENST00000436860	.	.	.	5.05	3.91	0.45181	.	0.202114	0.23987	N	0.042602	T	0.55657	0.1934	L	0.55990	1.75	0.80722	D	1	D	0.56287	0.975	P	0.54210	0.745	T	0.59252	-0.7489	9	0.87932	D	0	-17.1915	6.7425	0.23443	0.0:0.1041:0.0:0.8959	.	24	P20962	PTMS_HUMAN	G	24;24;24;23	.	ENSP00000310088:V24G	V	+	2	0	PTMS	6749055	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.450000	0.35134	1.908000	0.55244	0.374000	0.22700	GTG	PTMS	-	pfam_Pro/parathymosin	ENSG00000159335		0.557	PTMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTMS	HGNC	protein_coding	OTTHUMT00000402841.1	531	0.37	2	T			6878794	6878794	+1	no_errors	ENST00000389462	ensembl	human	known	69_37n	missense	317	13.78	51	SNP	1.000	G
PTOV1	53635	genome.wustl.edu	37	19	50360376	50360376	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:50360376A>C	ENST00000601675.1	+	6	807	c.703A>C	c.(703-705)Acc>Ccc	p.T235P	AC018766.6_ENST00000601211.1_RNA|AC018766.5_ENST00000599259.1_RNA|PTOV1_ENST00000598325.1_3'UTR|PTOV1_ENST00000599732.1_Missense_Mutation_p.T235P|PTOV1_ENST00000221557.9_Missense_Mutation_p.T203P|PTOV1_ENST00000391842.1_Missense_Mutation_p.T235P|AC018766.5_ENST00000593654.1_RNA|PTOV1_ENST00000600603.1_Missense_Mutation_p.T203P|PTOV1_ENST00000601638.1_Missense_Mutation_p.T203P|AC018766.5_ENST00000601893.1_RNA|MIR4749_ENST00000578197.1_RNA|AC018766.4_ENST00000596624.1_RNA			Q86YD1	PTOV1_HUMAN	prostate tumor overexpressed 1	235	Interaction with FLOT1.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		GGTCATCACCACCCGCAAGCA	0.622																																						dbGAP											0													144.0	133.0	137.0					19																	50360376		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF238381	CCDS12782.1	19q13.33	2014-08-28	2008-09-12		ENSG00000104960	ENSG00000104960			9632	protein-coding gene	gene with protein product		610195				12598323, 15713644	Standard	XM_005258998		Approved		uc002pqf.1	Q86YD1	OTTHUMG00000183162	ENST00000601675.1:c.703A>C	19.37:g.50360376A>C	ENSP00000472816:p.Thr235Pro		Q6UXX7|Q96BU3|Q9HBN4|Q9NYL1	Missense_Mutation	SNP	pfam_Mediator_Med25	p.T235P	ENST00000601675.1	37	c.703	CCDS12782.1	19	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598728	0.66332	.	.	ENSG00000104960	ENST00000221557;ENST00000391842	.	.	.	3.84	2.83	0.33086	Mediator complex, subunit Med25, PTOV activation and synapsin 2 (1);	0.446448	0.21696	N	0.070482	T	0.28995	0.0720	N	0.08118	0	0.34079	D	0.65931	P;D	0.60575	0.761;0.988	B;P	0.51833	0.378;0.681	T	0.34004	-0.9846	9	0.30078	T	0.28	-45.4375	8.6422	0.33983	0.9036:0.0:0.0964:0.0	.	235;203	Q86YD1;Q86YD1-2	PTOV1_HUMAN;.	P	203;235	.	ENSP00000221557:T203P	T	+	1	0	PTOV1	55052188	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.210000	0.58500	0.834000	0.34852	0.379000	0.24179	ACC	PTOV1	-	pfam_Mediator_Med25	ENSG00000104960		0.622	PTOV1-007	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	PTOV1	HGNC	protein_coding	OTTHUMT00000465347.1	61	0.00	0	A	NM_017432		50360376	50360376	+1	no_errors	ENST00000391842	ensembl	human	known	69_37n	missense	32	33.33	16	SNP	1.000	C
PTPN23	25930	genome.wustl.edu	37	3	47449280	47449280	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:47449280A>C	ENST00000265562.4	+	13	1174	c.1097A>C	c.(1096-1098)cAc>cCc	p.H366P	PTPN23_ENST00000431726.1_Missense_Mutation_p.H240P	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	366	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGGCTGCCCACGAGGCCTCG	0.602																																						dbGAP											0													85.0	85.0	85.0					3																	47449280		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1097A>C	3.37:g.47449280A>C	ENSP00000265562:p.His366Pro		A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.H366P	ENST00000265562.4	37	c.1097	CCDS2754.1	3	.	.	.	.	.	.	.	.	.	.	A	25.3	4.618826	0.87460	.	.	ENSG00000076201	ENST00000456408;ENST00000265562	T	0.19806	2.12	5.09	5.09	0.68999	BRO1 domain (2);	0.000000	0.85682	D	0.000000	T	0.53481	0.1799	M	0.90759	3.145	0.80722	D	1	D;D	0.76494	0.967;0.999	D;D	0.87578	0.992;0.998	T	0.63633	-0.6593	10	0.72032	D	0.01	-20.7561	13.9978	0.64414	1.0:0.0:0.0:0.0	.	240;366	B4DST5;Q9H3S7	.;PTN23_HUMAN	P	331;366	ENSP00000265562:H366P	ENSP00000265562:H366P	H	+	2	0	PTPN23	47424284	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	8.973000	0.93428	2.129000	0.65627	0.533000	0.62120	CAC	PTPN23	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000076201		0.602	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	140	0.71	1	A	NM_015466		47449280	47449280	+1	no_errors	ENST00000265562	ensembl	human	known	69_37n	missense	129	14.29	22	SNP	1.000	C
PTPRS	5802	genome.wustl.edu	37	19	5244463	5244463	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:5244463A>C	ENST00000587303.1	-	10	1118	c.1019T>G	c.(1018-1020)gTg>gGg	p.V340G	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.V340G|PTPRS_ENST00000372412.4_Missense_Mutation_p.V341G|PTPRS_ENST00000262963.6_Missense_Mutation_p.V336G|PTPRS_ENST00000592099.1_Missense_Mutation_p.V327G|PTPRS_ENST00000348075.2_Missense_Mutation_p.V327G|PTPRS_ENST00000353284.2_Missense_Mutation_p.V327G|PTPRS_ENST00000588012.1_Missense_Mutation_p.V327G			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	340	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GTTCTCAGTCACCATGGGAGT	0.552																																						dbGAP											0													88.0	86.0	87.0					19																	5244463		2203	4300	6503	-	-	-	SO:0001583	missense	0			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1019T>G	19.37:g.5244463A>C	ENSP00000467537:p.Val340Gly		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.V341G	ENST00000587303.1	37	c.1022	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	A	17.10	3.303791	0.60305	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	3.87	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	U	0.000020	T	0.77572	0.4150	M	0.87269	2.87	0.58432	D	0.999998	D;P;D;D;D;B	0.89917	0.957;0.57;0.965;1.0;1.0;0.379	P;B;P;D;D;B	0.97110	0.689;0.255;0.625;0.992;1.0;0.272	T	0.82155	-0.0597	10	0.87932	D	0	.	12.8545	0.57878	1.0:0.0:0.0:0.0	.	340;327;331;327;340;353	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	G	353;341;340;340;340;336;327;340;331;327	ENSP00000361489:V341G;ENSP00000349932:V340G;ENSP00000262963:V336G;ENSP00000269907:V327G;ENSP00000327313:V327G	ENSP00000262963:V336G	V	-	2	0	PTPRS	5195463	1.000000	0.71417	0.995000	0.50966	0.423000	0.31445	9.008000	0.93601	1.642000	0.50584	0.459000	0.35465	GTG	PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105426		0.552	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	273	0.71	2	A			5244463	5244463	-1	no_errors	ENST00000372412	ensembl	human	known	69_37n	missense	158	12.22	22	SNP	1.000	C
PVRL1	5818	genome.wustl.edu	37	11	119547861	119547861	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:119547861T>G	ENST00000264025.3	-	4	1332	c.802A>C	c.(802-804)Acc>Ccc	p.T268P	PVRL1_ENST00000341398.2_Missense_Mutation_p.T268P|PVRL1_ENST00000340882.2_Missense_Mutation_p.T268P|PVRL1_ENST00000524510.1_5'UTR	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	268	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCTTTGCAGGTGAGCTTCACG	0.562																																						dbGAP											0													124.0	90.0	102.0					11																	119547861		2199	4295	6494	-	-	-	SO:0001583	missense	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.802A>C	11.37:g.119547861T>G	ENSP00000264025:p.Thr268Pro		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.T268P	ENST00000264025.3	37	c.802	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	T	24.5	4.541745	0.85917	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.15372	2.43;2.43;2.43	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.139602	0.64402	D	0.000004	T	0.35970	0.0950	M	0.70903	2.155	0.54753	D	0.999983	P;D;D	0.59357	0.874;0.966;0.985	P;P;P	0.56398	0.526;0.797;0.742	T	0.08953	-1.0697	10	0.54805	T	0.06	.	15.0795	0.72103	0.0:0.0:0.0:1.0	.	268;268;268	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	P	268	ENSP00000344974:T268P;ENSP00000264025:T268P;ENSP00000345289:T268P	ENSP00000264025:T268P	T	-	1	0	PVRL1	119053071	1.000000	0.71417	0.988000	0.46212	0.933000	0.57130	7.694000	0.84235	2.169000	0.68431	0.533000	0.62120	ACC	PVRL1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000110400		0.562	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	108	0.92	1	T			119547861	119547861	-1	no_errors	ENST00000264025	ensembl	human	known	69_37n	missense	78	16.84	16	SNP	1.000	G
QARS	5859	genome.wustl.edu	37	3	49136807	49136807	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:49136807T>G	ENST00000306125.6	-	17	1921	c.1584A>C	c.(1582-1584)ccA>ccC	p.P528P	QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Silent_p.P517P			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	528					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGGCCTCAGGTGGGAAGCCCC	0.567																																						dbGAP											0													77.0	83.0	81.0					3																	49136807		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1584A>C	3.37:g.49136807T>G			B4DWJ2	Silent	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Gln-tRNA-synth_Ib	p.P528	ENST00000306125.6	37	c.1584	CCDS2788.1	3																																																																																			QARS	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth_Ib	ENSG00000172053		0.567	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	197	0.50	1	T	NM_005051		49136807	49136807	-1	no_errors	ENST00000306125	ensembl	human	known	69_37n	silent	112	15.15	20	SNP	0.004	G
QARS	5859	genome.wustl.edu	37	3	49137392	49137392	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:49137392A>C	ENST00000306125.6	-	14	1633		c.e14+1		QARS_ENST00000470225.1_5'Flank|QARS_ENST00000414533.1_Splice_Site			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase						brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TTCTACACCCACCATTTGTCC	0.612																																						dbGAP											0													113.0	108.0	110.0					3																	49137392		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1295+1T>G	3.37:g.49137392A>C			B4DWJ2	Splice_Site	SNP	-	e14+2	ENST00000306125.6	37	c.1295+2	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	A	11.09	1.537748	0.27475	.	.	ENSG00000172053	ENST00000306125;ENST00000414533	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.795	0.78404	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	QARS	49112396	1.000000	0.71417	0.942000	0.38095	0.130000	0.20726	8.488000	0.90458	2.204000	0.70986	0.533000	0.62120	.	QARS	-	-	ENSG00000172053		0.612	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	137	0.00	0	A	NM_005051	Intron	49137392	49137392	-1	no_errors	ENST00000306125	ensembl	human	known	69_37n	splice_site	128	11.64	17	SNP	0.998	C
QPCTL	54814	genome.wustl.edu	37	19	46198868	46198868	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:46198868A>C	ENST00000012049.5	+	3	746	c.525A>C	c.(523-525)ccA>ccC	p.P175P	QPCTL_ENST00000366382.4_Intron	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	175					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		AGCTCTTCCCACCCGGATCGA	0.642																																						dbGAP											0													113.0	101.0	105.0					19																	46198868		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.525A>C	19.37:g.46198868A>C			Q53HE4|Q96F74	Silent	SNP	pfam_Peptidase_M28	p.P175	ENST00000012049.5	37	c.525	CCDS12672.1	19																																																																																			QPCTL	-	pfam_Peptidase_M28	ENSG00000011478		0.642	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCTL	HGNC	protein_coding	OTTHUMT00000459656.1	114	0.84	1	A	NM_017659		46198868	46198868	+1	no_errors	ENST00000012049	ensembl	human	known	69_37n	silent	84	15.15	15	SNP	0.004	C
QSOX2	169714	genome.wustl.edu	37	9	139118628	139118628	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:139118628T>G	ENST00000358701.5	-	2	458	c.421A>C	c.(421-423)Acc>Ccc	p.T141P		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	141	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ACCCGGAAGGTGGGGTAGAAG	0.557											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													247.0	220.0	229.0					9																	139118628		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.421A>C	9.37:g.139118628T>G	ENSP00000351536:p.Thr141Pro	1646	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold	p.T141P	ENST00000358701.5	37	c.421	CCDS35178.1	9	.	.	.	.	.	.	.	.	.	.	T	21.2	4.105728	0.77096	.	.	ENSG00000165661	ENST00000358701;ENST00000389471	T	0.30981	1.51	4.91	2.3	0.28687	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.175238	0.48767	D	0.000176	T	0.59865	0.2225	H	0.94771	3.58	0.48135	D	0.999596	D	0.62365	0.991	D	0.64877	0.93	T	0.66563	-0.5892	10	0.72032	D	0.01	-27.543	9.2224	0.37384	0.288:0.0:0.0:0.712	.	141	Q6ZRP7	QSOX2_HUMAN	P	141;19	ENSP00000351536:T141P	ENSP00000351536:T141P	T	-	1	0	QSOX2	138258449	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.593000	0.54001	0.797000	0.33971	0.455000	0.32223	ACC	QSOX2	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000165661		0.557	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX2	HGNC	protein_coding	OTTHUMT00000055046.2	108	0.00	0	T	NM_181701		139118628	139118628	-1	no_errors	ENST00000358701	ensembl	human	known	69_37n	missense	107	17.05	22	SNP	1.000	G
R3HDM2	22864	genome.wustl.edu	37	12	57663603	57663603	+	Missense_Mutation	SNP	T	T	G	rs199789927		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:57663603T>G	ENST00000347140.3	-	15	1867	c.1477A>C	c.(1477-1479)Acc>Ccc	p.T493P	R3HDM2_ENST00000403821.2_Missense_Mutation_p.T527P|R3HDM2_ENST00000546843.1_5'Flank|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000402412.1_Missense_Mutation_p.T507P|R3HDM2_ENST00000441731.2_Missense_Mutation_p.T188P|R3HDM2_ENST00000358907.2_Missense_Mutation_p.T493P|R3HDM2_ENST00000413953.2_Missense_Mutation_p.T220P			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	493	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGGCTAGAGGTGGAATAGTTG	0.562																																						dbGAP											0													114.0	104.0	107.0					12																	57663603		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1477A>C	12.37:g.57663603T>G	ENSP00000317903:p.Thr493Pro		Q2M1T9|Q3ZCT5	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.T493P	ENST00000347140.3	37	c.1477	CCDS8937.2	12	.	.	.	.	.	.	.	.	.	.	T	15.28	2.787305	0.49997	.	.	ENSG00000179912	ENST00000413953;ENST00000393811;ENST00000347140;ENST00000402412;ENST00000358907;ENST00000441731;ENST00000429355;ENST00000403821	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.2	2.76	0.32466	.	0.379769	0.30011	N	0.010625	T	0.10165	0.0249	N	0.01352	-0.895	0.30634	N	0.75714	B;B;B;B;P	0.34757	0.0;0.0;0.167;0.0;0.467	B;B;B;B;B	0.31547	0.0;0.0;0.028;0.0;0.132	T	0.11155	-1.0599	10	0.08179	T	0.78	-0.7546	1.482	0.02439	0.2906:0.0818:0.1674:0.4602	.	220;527;507;493;220	B4DDZ2;B5MCG9;B5MCU0;Q9Y2K5;E9PAL1	.;.;.;R3HD2_HUMAN;.	P	220;220;493;507;493;188;258;527	ENSP00000409146:T220P;ENSP00000377400:T220P;ENSP00000317903:T493P;ENSP00000385839:T507P;ENSP00000351784:T493P;ENSP00000408536:T188P;ENSP00000394676:T258P;ENSP00000385169:T527P	ENSP00000317903:T493P	T	-	1	0	R3HDM2	55949870	0.834000	0.29399	1.000000	0.80357	0.997000	0.91878	-0.142000	0.10311	0.490000	0.27771	0.524000	0.50904	ACC	R3HDM2	-	NULL	ENSG00000179912		0.562	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	R3HDM2	HGNC	protein_coding	OTTHUMT00000326570.2	278	0.36	1	T	NM_014925		57663603	57663603	-1	no_errors	ENST00000347140	ensembl	human	known	69_37n	missense	201	17.62	43	SNP	1.000	G
RAB35	11021	genome.wustl.edu	37	12	120536706	120536706	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:120536706A>C	ENST00000229340.5	-	5	574	c.386T>G	c.(385-387)gTg>gGg	p.V129G	RAB35_ENST00000432953.2_Intron|RAB35_ENST00000534951.1_Intron|RAB35_ENST00000543364.1_5'UTR	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	129					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CGTCTCCACCACCTTCCGCTC	0.597																																						dbGAP											0													112.0	120.0	118.0					12																	120536706		2087	4218	6305	-	-	-	SO:0001583	missense	0			X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.386T>G	12.37:g.120536706A>C	ENSP00000229340:p.Val129Gly		B2R6E0|B4E390	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,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.V129G	ENST00000229340.5	37	c.386	CCDS41846.1	12	.	.	.	.	.	.	.	.	.	.	A	17.42	3.386326	0.61956	.	.	ENSG00000111737	ENST00000229340;ENST00000538903	T;T	0.80480	-1.38;-1.38	5.29	4.07	0.47477	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78830	0.4345	M	0.72894	2.215	0.80722	D	1	B	0.12630	0.006	B	0.17433	0.018	T	0.78889	-0.2026	10	0.87932	D	0	.	11.8673	0.52501	0.8541:0.1459:0.0:0.0	.	129	Q15286	RAB35_HUMAN	G	129;113	ENSP00000229340:V129G;ENSP00000443994:V113G	ENSP00000229340:V129G	V	-	2	0	RAB35	119021089	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.082000	0.76851	1.976000	0.57569	0.528000	0.53228	GTG	RAB35	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,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	ENSG00000111737		0.597	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB35	HGNC	protein_coding	OTTHUMT00000402599.2	131	0.74	1	A			120536706	120536706	-1	no_errors	ENST00000229340	ensembl	human	known	69_37n	missense	121	18.79	28	SNP	1.000	C
RABGGTA	5875	genome.wustl.edu	37	14	24736012	24736012	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:24736012T>G	ENST00000399409.3	-	14	1920	c.1437A>C	c.(1435-1437)ccA>ccC	p.P479P	RABGGTA_ENST00000216840.6_Silent_p.P479P|RABGGTA_ENST00000560777.1_Silent_p.P88P|RABGGTA_ENST00000559586.1_5'Flank	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	479					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		CCAGTGCAGGTGGCAGGGTTC	0.582																																						dbGAP											0													80.0	96.0	90.0					14																	24736012		2166	4274	6440	-	-	-	SO:0001819	synonymous_variant	0				CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.1437A>C	14.37:g.24736012T>G			A8K5N2|D3DS69	Missense_Mutation	SNP	pfam_Leu-rich_rpt	p.H115P	ENST00000399409.3	37	c.344	CCDS45088.1	14																																																																																			RABGGTA	-	pfam_Leu-rich_rpt	ENSG00000100949		0.582	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RABGGTA	HGNC	protein_coding	OTTHUMT00000415308.5	172	0.57	1	T	NM_182836		24736012	24736012	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000560521	ensembl	human	putative	69_37n	missense	115	17.02	24	SNP	0.991	G
RAD23A	5886	genome.wustl.edu	37	19	13059101	13059101	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:13059101A>C	ENST00000586534.1	+	3	406	c.345A>C	c.(343-345)ccA>ccC	p.P115P	RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000316856.3_Silent_p.P115P|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Silent_p.P115P			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	115					nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						CCCATCCCCCACCTGCCGCCA	0.667								Nucleotide excision repair (NER)																														dbGAP											0													43.0	50.0	48.0					19																	13059101		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.345A>C	19.37:g.13059101A>C			K7ESE3|Q59EU8|Q5M7Z1	Silent	SNP	pfam_XPC-bd,pfam_UBA/transl_elong_EF1B_N,pfam_Ubiquitin,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23	p.P115	ENST00000586534.1	37	c.345	CCDS12289.1	19																																																																																			RAD23A	-	tigrfam_Rad23	ENSG00000179262		0.667	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD23A	HGNC	protein_coding	OTTHUMT00000452752.1	144	0.68	1	A	NM_005053		13059101	13059101	+1	no_errors	ENST00000586534	ensembl	human	known	69_37n	silent	64	25.29	22	SNP	0.002	C
RALB	5899	genome.wustl.edu	37	2	121047245	121047245	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:121047245T>G	ENST00000272519.5	+	4	683	c.413T>G	c.(412-414)gTg>gGg	p.V138G	RALB_ENST00000420510.1_Missense_Mutation_p.V138G|RALB_ENST00000470417.1_3'UTR|RALB_ENST00000404963.3_Missense_Mutation_p.V159G|RALB_ENST00000474855.2_Missense_Mutation_p.V160G	NM_002881.2	NP_002872.1	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	138					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of exocyst assembly (GO:0001928)|regulation of exocyst localization (GO:0060178)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CGGAGGCAGGTGCCTGTGGAG	0.557																																						dbGAP											0													108.0	110.0	109.0					2																	121047245		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2131.1	2q14.2	2014-05-09	2013-07-09		ENSG00000144118	ENSG00000144118			9840	protein-coding gene	gene with protein product	"""ras related GTP binding protein B"""	179551					Standard	NM_002881		Approved		uc002tmk.3	P11234	OTTHUMG00000131435	ENST00000272519.5:c.413T>G	2.37:g.121047245T>G	ENSP00000272519:p.Val138Gly		B4E040|Q53T32|Q6ZS74	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,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.V160G	ENST00000272519.5	37	c.479	CCDS2131.1	2	.	.	.	.	.	.	.	.	.	.	T	29.3	4.996132	0.93167	.	.	ENSG00000144118	ENST00000447591;ENST00000474855;ENST00000272519;ENST00000420510;ENST00000404963;ENST00000412383	D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.068354	0.56097	D	0.000021	D	0.95338	0.8487	H	0.98005	4.125	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.81914	0.992;0.995;0.995	D	0.97076	0.9781	10	0.87932	D	0	.	15.5811	0.76439	0.0:0.0:0.0:1.0	.	160;159;138	B4E040;Q6ZS74;P11234	.;.;RALB_HUMAN	G	160;160;138;138;159;138	ENSP00000402866:V160G;ENSP00000438764:V160G;ENSP00000272519:V138G;ENSP00000414224:V138G;ENSP00000384328:V159G;ENSP00000398162:V138G	ENSP00000272519:V138G	V	+	2	0	RALB	120763715	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.781000	0.85668	2.270000	0.75569	0.459000	0.35465	GTG	RALB	-	pfam_Small_GTPase,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000144118		0.557	RALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALB	HGNC	protein_coding	OTTHUMT00000254232.3	213	0.46	1	T	NM_002881		121047245	121047245	+1	no_errors	ENST00000474855	ensembl	human	known	69_37n	missense	83	18.63	19	SNP	1.000	G
RANBP10	57610	genome.wustl.edu	37	16	67765339	67765339	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:67765339T>G	ENST00000317506.3	-	7	1005				RANBP10_ENST00000602677.1_Intron|RANBP10_ENST00000448631.2_Intron|RANBP10_ENST00000536251.1_Intron|RANBP10_ENST00000411657.2_Intron|RANBP10_ENST00000425512.2_Missense_Mutation_p.T177P	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10						microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TAGGGACAGGTGAGGAAGGGA	0.502																																						dbGAP											0													126.0	119.0	121.0					16																	67765339		2198	4300	6498	-	-	-	SO:0001627	intron_variant	0			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.889+35A>C	16.37:g.67765339T>G			A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation	p.T177P	ENST00000317506.3	37	c.529	CCDS32469.1	16	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645666	0.47258	.	.	ENSG00000141084	ENST00000425512	D	0.89050	-2.46	5.65	0.12	0.14691	.	.	.	.	.	T	0.80314	0.4600	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.66933	-0.5798	8	0.42905	T	0.14	.	5.6362	0.17538	0.2488:0.0:0.3191:0.4321	.	177;309	B4DHL9;B4E1Y2	.;.	P	177	ENSP00000410617:T177P	ENSP00000410617:T177P	T	-	1	0	RANBP10	66322840	0.111000	0.22076	0.020000	0.16555	0.298000	0.27526	0.337000	0.19841	0.339000	0.23719	0.379000	0.24179	ACC	RANBP10	-	NULL	ENSG00000141084		0.502	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	241	0.82	2	T	NM_020850		67765339	67765339	-1	no_errors	ENST00000425512	ensembl	human	known	69_37n	missense	113	14.93	20	SNP	0.000	G
RAP1GAP2	23108	genome.wustl.edu	37	17	2883661	2883661	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:2883661T>G	ENST00000254695.8	+	9	765		c.e9+2		RAP1GAP2_ENST00000542807.1_Splice_Site|RAP1GAP2_ENST00000540393.2_Splice_Site|RAP1GAP2_ENST00000366401.4_Splice_Site	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2						negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ATTGCAAAGGTGAGAAACCAA	0.562																																						dbGAP											0													87.0	85.0	85.0					17																	2883661		1984	4153	6137	-	-	-	SO:0001630	splice_region_variant	0			AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.675+2T>G	17.37:g.2883661T>G			B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Splice_Site	SNP	-	e9+2	ENST00000254695.8	37	c.675+2	CCDS45573.1	17	.	.	.	.	.	.	.	.	.	.	T	18.64	3.668318	0.67814	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1562	0.48489	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RAP1GAP2	2830411	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	4.099000	0.57755	1.882000	0.54519	0.454000	0.30748	.	RAP1GAP2	-	-	ENSG00000132359		0.562	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	HGNC	protein_coding	OTTHUMT00000438208.2	165	0.00	0	T		Intron	2883661	2883661	+1	no_errors	ENST00000542807	ensembl	human	known	69_37n	splice_site	101	17.21	21	SNP	1.000	G
RARS	5917	genome.wustl.edu	37	5	167937620	167937620	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:167937620C>T	ENST00000231572.3	+	12	1435	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	RARS_ENST00000538719.1_Missense_Mutation_p.R255C	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	461					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	arginine binding (GO:0034618)|arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|tRNA binding (GO:0000049)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		TGAAACAGTGCGCCTCATGGA	0.363																																						dbGAP											0													67.0	67.0	67.0					5																	167937620		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000528	CCDS4367.1	5q35.1	2011-07-01			ENSG00000113643	ENSG00000113643	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	9870	protein-coding gene	gene with protein product	"""arginine tRNA ligase 1, cytoplasmic"""	107820				7590355	Standard	NM_002887		Approved	DALRD1	uc003lzx.3	P54136	OTTHUMG00000130411	ENST00000231572.3:c.1381C>T	5.37:g.167937620C>T	ENSP00000231572:p.Arg461Cys		B2RBS9|Q53GY4|Q9BWA1	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,pfam_Arg-tRNA-synth_N,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia	p.R461C	ENST00000231572.3	37	c.1381	CCDS4367.1	5	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158080	0.57368	.	.	ENSG00000113643	ENST00000231572;ENST00000538719	T;T	0.65178	-0.06;-0.14	4.99	4.99	0.66335	Arginyl-tRNA synthetase, class Ia, core (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.000000	0.85682	D	0.000000	D	0.85978	0.5823	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	D	0.90737	0.4647	10	0.87932	D	0	-8.1724	18.6482	0.91419	0.0:1.0:0.0:0.0	.	461	P54136	SYRC_HUMAN	C	461;255	ENSP00000231572:R461C;ENSP00000439108:R255C	ENSP00000231572:R461C	R	+	1	0	RARS	167870198	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	3.552000	0.53705	2.462000	0.83206	0.655000	0.94253	CGC	RARS	-	pfam_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-synth_Ia	ENSG00000113643		0.363	RARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS	HGNC	protein_coding	OTTHUMT00000252794.2	99	1.00	1	C	NM_002887		167937620	167937620	+1	no_errors	ENST00000231572	ensembl	human	known	69_37n	missense	72	25.00	24	SNP	1.000	T
RASGEF1C	255426	genome.wustl.edu	37	5	179546420	179546420	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:179546420A>C	ENST00000393371.2	-	7	1129	c.833T>G	c.(832-834)gTg>gGg	p.V278G	RASGEF1C_ENST00000522500.1_Missense_Mutation_p.V127G|RASGEF1C_ENST00000519883.1_5'UTR|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.V278G			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	278	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAACTCAATCACCTGGGCCCT	0.632																																						dbGAP											0													136.0	104.0	115.0					5																	179546420		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.833T>G	5.37:g.179546420A>C	ENSP00000377037:p.Val278Gly		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.V278G	ENST00000393371.2	37	c.833	CCDS4452.1	5	.	.	.	.	.	.	.	.	.	.	A	15.16	2.750704	0.49257	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.35421	1.31;1.31;1.31	4.38	3.2	0.36748	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.074478	0.53938	D	0.000042	T	0.60117	0.2244	M	0.91768	3.24	0.80722	D	1	P	0.48764	0.915	P	0.58266	0.836	T	0.64415	-0.6413	10	0.87932	D	0	.	9.0659	0.36462	0.9101:0.0:0.0899:0.0	.	278	Q8N431	RGF1C_HUMAN	G	278;278;127	ENSP00000354963:V278G;ENSP00000377037:V278G;ENSP00000429114:V127G	ENSP00000354963:V278G	V	-	2	0	RASGEF1C	179479026	1.000000	0.71417	0.996000	0.52242	0.150000	0.21749	4.643000	0.61390	0.659000	0.30945	-0.441000	0.05720	GTG	RASGEF1C	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000146090		0.632	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RASGEF1C	HGNC	protein_coding	OTTHUMT00000253506.2	143	0.00	0	A	NM_175062		179546420	179546420	-1	no_errors	ENST00000361132	ensembl	human	known	69_37n	missense	71	17.78	16	SNP	1.000	C
RBFOX3	146713	genome.wustl.edu	37	17	77231681	77231681	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:77231681T>G	ENST00000453134.2	-	4	480				RBFOX3_ENST00000578887.1_5'UTR|RBFOX3_ENST00000584778.1_Intron|RBFOX3_ENST00000415831.1_Intron|RBFOX3_ENST00000582043.1_Intron|RBFOX3_ENST00000580155.1_Intron|RBFOX3_ENST00000583458.1_Intron			A6NFN3	RFOX3_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 3						mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perikaryon (GO:0043204)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)	2						GACACAGAGGTGCTAAACGGC	0.562																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS45805.1	17q25.3	2013-02-12			ENSG00000167281	ENSG00000167281		"""RNA binding motif (RRM) containing"""	27097	protein-coding gene	gene with protein product	"""neuronal nuclei"", ""hexaribonucleotide binding protein 3"""					16260614	Standard	NM_001082575		Approved	FOX-3, NeuN, HRNBP3	uc010dhs.4	A6NFN3	OTTHUMG00000150183	ENST00000453134.2:c.32+166A>C	17.37:g.77231681T>G			B4DEG6|B4DF29	RNA	SNP	-	NULL	ENST00000453134.2	37	NULL	CCDS45805.1	17																																																																																			RBFOX3	-	-	ENSG00000167281		0.562	RBFOX3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RBFOX3	HGNC	protein_coding	OTTHUMT00000437658.1	47	0.00	0	T	NM_001082575		77231681	77231681	-1	no_errors	ENST00000578887	ensembl	human	known	69_37n	rna	22	30.30	10	SNP	0.000	G
RBKS	64080	genome.wustl.edu	37	2	28066070	28066070	+	Silent	SNP	T	T	C	rs201896425	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:28066070T>C	ENST00000302188.3	-	5	1130	c.378A>G	c.(376-378)ggA>ggG	p.G126G	RBKS_ENST00000444339.2_Silent_p.G126G	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	126					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					GTAAATTTGCTCCAGCCACTA	0.393																																						dbGAP											0													69.0	72.0	71.0					2																	28066070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.378A>G	2.37:g.28066070T>C			A9UK04|B4DV96	Silent	SNP	pfam_PfkB,pfam_HMP-P_kinase-1,prints_Ribokinase,tigrfam_D_ribokin_bac	p.G126	ENST00000302188.3	37	c.378	CCDS1762.1	2																																																																																			RBKS	-	pfam_PfkB,prints_Ribokinase,tigrfam_D_ribokin_bac	ENSG00000171174		0.393	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBKS	HGNC	protein_coding	OTTHUMT00000215118.1	107	0.93	1	T	NM_022128		28066070	28066070	-1	no_errors	ENST00000302188	ensembl	human	known	69_37n	silent	87	22.32	25	SNP	1.000	C
RBM12	10137	genome.wustl.edu	37	20	34242645	34242645	+	Silent	SNP	T	T	G	rs146987227		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:34242645T>G	ENST00000374114.3	-	3	863	c.600A>C	c.(598-600)ccA>ccC	p.P200P	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_5'Flank|RBM12_ENST00000359646.1_Silent_p.P200P|RBM12_ENST00000374104.3_Silent_p.P200P|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	200	Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ATGGCATTGGTGGCAGAGATG	0.567																																						dbGAP											0													140.0	105.0	117.0					20																	34242645		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.600A>C	20.37:g.34242645T>G			B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P200	ENST00000374114.3	37	c.600	CCDS13261.1	20																																																																																			RBM12	-	NULL	ENSG00000244462		0.567	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	218	0.00	0	T	NM_006047		34242645	34242645	-1	no_errors	ENST00000359646	ensembl	human	known	69_37n	silent	226	12.69	33	SNP	1.000	G
RBM12	10137	genome.wustl.edu	37	20	34242681	34242681	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:34242681T>G	ENST00000374114.3	-	3	827	c.564A>C	c.(562-564)ccA>ccC	p.P188P	CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_5'Flank|RBM12_ENST00000359646.1_Silent_p.P188P|RBM12_ENST00000374104.3_Silent_p.P188P|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	188	Poly-Pro.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GAGGAATTGGTGGCGGCGGGA	0.542																																						dbGAP											0													125.0	100.0	108.0					20																	34242681		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.564A>C	20.37:g.34242681T>G			B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P188	ENST00000374114.3	37	c.564	CCDS13261.1	20																																																																																			RBM12	-	NULL	ENSG00000244462		0.542	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	222	0.44	1	T	NM_006047		34242681	34242681	-1	no_errors	ENST00000359646	ensembl	human	known	69_37n	silent	244	11.27	31	SNP	1.000	G
RBMS2	5939	genome.wustl.edu	37	12	56982747	56982747	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:56982747T>G	ENST00000262031.5	+	13	1270	c.1175T>G	c.(1174-1176)gTg>gGg	p.V392G	RBMS2_ENST00000542360.1_Missense_Mutation_p.V247G|RBMS2_ENST00000550726.1_Missense_Mutation_p.V267G|RBMS2_ENST00000552247.2_Missense_Mutation_p.V329G|RNU6-343P_ENST00000364709.1_RNA	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	392					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CAAGTGGCAGTGGACGCACCC	0.577																																						dbGAP											0													150.0	128.0	136.0					12																	56982747		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28483	CCDS8923.1	12q13.13	2013-02-12			ENSG00000076067	ENSG00000076067		"""RNA binding motif (RRM) containing"""	9909	protein-coding gene	gene with protein product		602387				8041632	Standard	NM_002898		Approved	SCR3	uc001sln.2	Q15434	OTTHUMG00000170488	ENST00000262031.5:c.1175T>G	12.37:g.56982747T>G	ENSP00000262031:p.Val392Gly			Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.V392G	ENST00000262031.5	37	c.1175	CCDS8923.1	12	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640820	0.47153	.	.	ENSG00000076067	ENST00000262031;ENST00000552247;ENST00000550726;ENST00000542360	T;T;T	0.28666	2.53;2.28;1.6	5.15	5.15	0.70609	.	0.438594	0.25922	N	0.027438	T	0.35128	0.0921	L	0.50333	1.59	0.80722	D	1	P;B	0.35872	0.525;0.373	B;B	0.40864	0.315;0.342	T	0.24621	-1.0155	10	0.87932	D	0	.	14.2631	0.66097	0.0:0.0:0.0:1.0	.	247;392	F5H5C8;Q15434	.;RBMS2_HUMAN	G	392;329;267;247	ENSP00000262031:V392G;ENSP00000447426:V329G;ENSP00000449678:V267G	ENSP00000262031:V392G	V	+	2	0	RBMS2	55269014	1.000000	0.71417	0.991000	0.47740	0.435000	0.31806	4.520000	0.60524	2.088000	0.63022	0.459000	0.35465	GTG	RBMS2	-	NULL	ENSG00000076067		0.577	RBMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS2	HGNC	protein_coding	OTTHUMT00000409366.2	225	0.00	0	T	NM_002898		56982747	56982747	+1	no_errors	ENST00000262031	ensembl	human	known	69_37n	missense	94	12.15	13	SNP	1.000	G
RBM19	9904	genome.wustl.edu	37	12	114397982	114397982	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:114397982A>C	ENST00000545145.2	-	3	299	c.221T>G	c.(220-222)gTg>gGg	p.V74G	RBM19_ENST00000261741.5_Splice_Site_p.V74G|RBM19_ENST00000392561.3_Splice_Site_p.V74G	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	74	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCAGAACTCCACCTGTGTGGG	0.577																																						dbGAP											0													79.0	74.0	76.0					12																	114397982		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.220-1T>G	12.37:g.114397982A>C			A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom	p.V74G	ENST00000545145.2	37	c.221	CCDS9172.1	12	.	.	.	.	.	.	.	.	.	.	A	23.2	4.381639	0.82792	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	D;D;D	0.84298	-1.83;-1.83;-1.83	4.86	4.86	0.63082	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	D	0.95723	0.8609	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97467	1.0038	10	0.72032	D	0.01	-29.2826	14.6163	0.68552	1.0:0.0:0.0:0.0	.	74	Q9Y4C8	RBM19_HUMAN	G	74	ENSP00000442053:V74G;ENSP00000376344:V74G;ENSP00000261741:V74G	ENSP00000261741:V74G	V	-	2	0	RBM19	112882365	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	8.623000	0.90957	2.033000	0.60031	0.455000	0.32223	GTG	RBM19	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000122965		0.577	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	RBM19	HGNC	protein_coding	OTTHUMT00000405251.1	149	0.66	1	A	NM_016196	Missense_Mutation	114397982	114397982	-1	no_errors	ENST00000261741	ensembl	human	known	69_37n	missense	186	16.96	38	SNP	1.000	C
RBMX	27316	genome.wustl.edu	37	X	135960220	135960220	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:135960220A>C	ENST00000320676.7	-	4	396	c.242T>G	c.(241-243)gTg>gGg	p.V81G	RBMX_ENST00000565438.1_5'UTR|RBMX_ENST00000562646.1_Missense_Mutation_p.V81G|RBMX_ENST00000570135.1_Intron|RBMX_ENST00000431446.3_Intron|SNORD61_ENST00000384252.1_RNA	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	81	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGCTTGTTCCACCTTGATGGC	0.398																																						dbGAP											0													35.0	31.0	32.0					X																	135960220		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.242T>G	X.37:g.135960220A>C	ENSP00000359645:p.Val81Gly		B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.V81G	ENST00000320676.7	37	c.242	CCDS14661.1	X	.	.	.	.	.	.	.	.	.	.	.	20.7	4.040802	0.75732	.	.	ENSG00000147274	ENST00000320676;ENST00000449161	D	0.84298	-1.83	5.15	5.15	0.70609	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.64402	U	0.000004	D	0.95258	0.8462	H	0.98351	4.21	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.992	D	0.96493	0.9365	10	0.87932	D	0	.	12.6938	0.56992	1.0:0.0:0.0:0.0	.	81;68	P38159;Q8N8Y7	HNRPG_HUMAN;.	G	81;68	ENSP00000359645:V81G	ENSP00000359645:V81G	V	-	2	0	RBMX	135787886	1.000000	0.71417	0.972000	0.41901	0.836000	0.47400	9.019000	0.93662	1.709000	0.51313	0.410000	0.27636	GTG	RBMX	-	smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000147274		0.398	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX	HGNC	protein_coding	OTTHUMT00000058507.1	163	0.61	1	A	NM_002139		135960220	135960220	-1	no_errors	ENST00000320676	ensembl	human	known	69_37n	missense	154	11.43	20	SNP	1.000	C
RBP3	5949	genome.wustl.edu	37	10	48382140	48382140	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:48382140A>C	ENST00000224600.4	-	4	3622	c.3509T>G	c.(3508-3510)gTg>gGg	p.V1170G		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1170	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCCACTGGTCACCTCCCCAAT	0.627																																						dbGAP											0													61.0	62.0	62.0					10																	48382140		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.3509T>G	10.37:g.48382140A>C	ENSP00000224600:p.Val1170Gly		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.V1170G	ENST00000224600.4	37	c.3509	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	A	16.56	3.158496	0.57368	.	.	ENSG00000107618	ENST00000224600	T	0.62941	-0.01	5.69	5.69	0.88448	Interphotoreceptor retinol-binding (2);	0.238434	0.43110	D	0.000620	T	0.65249	0.2673	M	0.64997	1.995	0.51482	D	0.999923	D	0.53312	0.959	P	0.49012	0.598	T	0.68051	-0.5511	10	0.51188	T	0.08	-32.1357	10.7702	0.46319	0.8495:0.0:0.0:0.1505	.	1170	P10745	RET3_HUMAN	G	1170	ENSP00000224600:V1170G	ENSP00000224600:V1170G	V	-	2	0	RBP3	48002146	0.999000	0.42202	1.000000	0.80357	0.980000	0.70556	1.998000	0.40796	2.175000	0.68902	0.533000	0.62120	GTG	RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd	ENSG00000107618		0.627	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	90	0.00	0	A	NM_002900		48382140	48382140	-1	no_errors	ENST00000224600	ensembl	human	known	69_37n	missense	45	28.57	18	SNP	1.000	C
CLSTN3	9746	genome.wustl.edu	37	12	7280933	7280933	+	5'Flank	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:7280933A>C	ENST00000266546.6	+	0	0				RBP5_ENST00000542370.1_Missense_Mutation_p.V52G|RP11-273B20.1_ENST00000538062.1_RNA|RBP5_ENST00000266560.3_Missense_Mutation_p.V52G|RP11-273B20.1_ENST00000544657.1_RNA	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3						homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GAGCGTCCTCACCGTCATGTG	0.572																																						dbGAP											0													181.0	150.0	160.0					12																	7280933		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167		12.37:g.7280933A>C	Exception_encountered		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.V52G	ENST00000266546.6	37	c.155	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	A	16.12	3.033528	0.54896	.	.	ENSG00000139194	ENST00000266560;ENST00000542370	T;T	0.09073	3.02;3.02	3.31	2.13	0.27403	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.293598	0.32533	N	0.005967	T	0.20047	0.0482	M	0.67397	2.05	0.80722	D	1	D	0.56287	0.975	P	0.59424	0.857	T	0.00706	-1.1601	10	0.87932	D	0	.	10.1574	0.42831	0.8316:0.1684:0.0:0.0	.	52	P82980	RET5_HUMAN	G	52	ENSP00000266560:V52G;ENSP00000438083:V52G	ENSP00000266560:V52G	V	-	2	0	RBP5	7172200	1.000000	0.71417	0.804000	0.32291	0.165000	0.22458	5.804000	0.69135	0.624000	0.30286	0.402000	0.26972	GTG	RBP5	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000139194		0.572	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP5	HGNC	protein_coding	OTTHUMT00000398560.2	180	0.54	1	A	NM_014718		7280933	7280933	-1	no_errors	ENST00000266560	ensembl	human	known	69_37n	missense	179	11.39	23	SNP	0.999	C
RCAN3	11123	genome.wustl.edu	37	1	24859650	24859650	+	Silent	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:24859650T>C	ENST00000374395.4	+	4	760	c.447T>C	c.(445-447)ccT>ccC	p.P149P	RCAN3_ENST00000538532.1_Silent_p.P91P|RCAN3_ENST00000436717.2_Silent_p.P139P|RCAN3_ENST00000374393.2_Intron|RCAN3_ENST00000412742.2_Intron	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	149					anatomical structure morphogenesis (GO:0009653)|calcium-mediated signaling (GO:0019722)		RNA binding (GO:0003723)|troponin I binding (GO:0031013)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TCATCTCCCCTCCAGCCTCTC	0.552																																						dbGAP											0													69.0	65.0	66.0					1																	24859650		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS254.1, CCDS57980.1, CCDS57981.1, CCDS57982.1, CCDS72730.1	1p35.3-p33	2008-02-05	2007-06-26	2007-06-26	ENSG00000117602	ENSG00000117602			3042	protein-coding gene	gene with protein product		605860	"""Down syndrome critical region gene 1-like 2"""	DSCR1L2		10756093	Standard	NM_001251984		Approved		uc001bjj.3	Q9UKA8	OTTHUMG00000003298	ENST00000374395.4:c.447T>C	1.37:g.24859650T>C			A4GU14|A4LA69|E3VWE2|E5L4P0|E5L4P7|E7ENV1|E7EWD8|G1FI66|G1FLF0|Q5ECL3|Q5TGC6|Q9NUC8|Q9UKA7	Missense_Mutation	SNP	pfam_Calcipressin	p.L16P	ENST00000374395.4	37	c.47	CCDS254.1	1																																																																																			RCAN3	-	pfam_Calcipressin	ENSG00000117602		0.552	RCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCAN3	HGNC	protein_coding	OTTHUMT00000009176.2	176	0.56	1	T			24859650	24859650	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000482807	ensembl	human	known	69_37n	missense	115	15.44	21	SNP	0.001	C
RCBTB1	55213	genome.wustl.edu	37	13	50123782	50123782	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:50123782A>C	ENST00000378302.2	-	9	1117	c.857T>G	c.(856-858)gTg>gGg	p.V286G	RCBTB1_ENST00000258646.3_Missense_Mutation_p.V286G|RCBTB1_ENST00000546015.1_Missense_Mutation_p.V286G	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	286					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		AATCTCTACCACCCTGAAAAG	0.507																																						dbGAP											0													56.0	54.0	54.0					13																	50123782		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF334406	CCDS9418.1	13q14	2013-01-08			ENSG00000136144	ENSG00000136144		"""BTB/POZ domain containing"""	18243	protein-coding gene	gene with protein product		607867				11306461	Standard	XM_005266441		Approved	FLJ10716, CLLD7, CLLL7	uc001vde.1	Q8NDN9	OTTHUMG00000016915	ENST00000378302.2:c.857T>G	13.37:g.50123782A>C	ENSP00000367552:p.Val286Gly		Q8IY29|Q969U9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_Reg_chr_condens,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.V286G	ENST00000378302.2	37	c.857	CCDS9418.1	13	.	.	.	.	.	.	.	.	.	.	A	20.9	4.067051	0.76301	.	.	ENSG00000136144	ENST00000258646;ENST00000378302;ENST00000546015	D;D;D	0.89123	-2.47;-2.47;-2.47	5.15	5.15	0.70609	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.107337	0.64402	D	0.000006	D	0.92616	0.7654	M	0.91038	3.17	0.80722	D	1	P	0.38863	0.65	P	0.45794	0.493	D	0.91781	0.5435	10	0.23891	T	0.37	-15.2025	14.9777	0.71286	1.0:0.0:0.0:0.0	.	286	Q8NDN9	RCBT1_HUMAN	G	286	ENSP00000258646:V286G;ENSP00000367552:V286G;ENSP00000443293:V286G	ENSP00000258646:V286G	V	-	2	0	RCBTB1	49021783	1.000000	0.71417	0.929000	0.37066	0.934000	0.57294	8.962000	0.93254	1.939000	0.56221	0.379000	0.24179	GTG	RCBTB1	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens	ENSG00000136144		0.507	RCBTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB1	HGNC	protein_coding	OTTHUMT00000044912.2	109	0.00	0	A	NM_018191		50123782	50123782	-1	no_errors	ENST00000258646	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	0.998	C
RELT	84957	genome.wustl.edu	37	11	73101617	73101617	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:73101617A>C	ENST00000064780.2	+	3	328	c.67A>C	c.(67-69)Acc>Ccc	p.T23P	RELT_ENST00000393580.2_Missense_Mutation_p.T23P	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	23						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GCCTCTCGCCACCCTGACATC	0.607																																						dbGAP											0													94.0	94.0	94.0					11																	73101617		2200	4293	6493	-	-	-	SO:0001583	missense	0			AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.67A>C	11.37:g.73101617A>C	ENSP00000064780:p.Thr23Pro		Q86V34|Q96JU1|Q9BUX7	Missense_Mutation	SNP	pfam_TNF_rcpt_RELT,prints_TNFR_19-like	p.T23P	ENST00000064780.2	37	c.67	CCDS8222.1	11	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960941	0.34565	.	.	ENSG00000054967	ENST00000064780;ENST00000545687;ENST00000393580	T;T;T	0.52295	0.67;0.67;0.67	4.39	3.2	0.36748	.	0.620826	0.14396	N	0.322195	T	0.44871	0.1314	L	0.60455	1.87	0.32852	D	0.506791	P	0.51791	0.948	B	0.44315	0.446	T	0.58725	-0.7586	10	0.87932	D	0	-5.6051	7.0023	0.24817	0.7971:0.0:0.0:0.2029	.	23	Q969Z4	TR19L_HUMAN	P	23	ENSP00000064780:T23P;ENSP00000439352:T23P;ENSP00000377207:T23P	ENSP00000064780:T23P	T	+	1	0	RELT	72779265	0.027000	0.19231	0.936000	0.37596	0.352000	0.29268	1.341000	0.33907	0.769000	0.33313	0.444000	0.29173	ACC	RELT	-	NULL	ENSG00000054967		0.607	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RELT	HGNC	protein_coding	OTTHUMT00000397380.2	102	0.00	0	A	NM_032871		73101617	73101617	+1	no_errors	ENST00000064780	ensembl	human	known	69_37n	missense	64	14.67	11	SNP	0.985	C
RELT	84957	genome.wustl.edu	37	11	73102243	73102243	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:73102243A>C	ENST00000064780.2	+	5	603	c.342A>C	c.(340-342)gcA>gcC	p.A114A	RELT_ENST00000393580.2_Silent_p.A114A	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	114						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GTTCCTGGGCACCTCTGGGTA	0.617																																						dbGAP											0													139.0	128.0	132.0					11																	73102243		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.342A>C	11.37:g.73102243A>C			Q86V34|Q96JU1|Q9BUX7	Silent	SNP	pfam_TNF_rcpt_RELT,prints_TNFR_19-like	p.A114	ENST00000064780.2	37	c.342	CCDS8222.1	11																																																																																			RELT	-	NULL	ENSG00000054967		0.617	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RELT	HGNC	protein_coding	OTTHUMT00000397380.2	155	0.00	0	A	NM_032871		73102243	73102243	+1	no_errors	ENST00000064780	ensembl	human	known	69_37n	silent	162	11.48	21	SNP	0.927	C
RERE	473	genome.wustl.edu	37	1	8421518	8421518	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:8421518A>C	ENST00000337907.3	-	19	2683	c.2049T>G	c.(2047-2049)ggT>ggG	p.G683G	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Silent_p.G129G|RERE_ENST00000377464.1_Silent_p.G415G|RERE_ENST00000400908.2_Silent_p.G683G	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	683					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCTCTCCCTCACCTTCAGATG	0.592																																						dbGAP											0													105.0	95.0	98.0					1																	8421518		2192	4292	6484	-	-	-	SO:0001819	synonymous_variant	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2049T>G	1.37:g.8421518A>C			O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Splice_Site	SNP	-	e3+2	ENST00000337907.3	37	c.307+2	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	A	1.050	-0.676282	0.03378	.	.	ENSG00000142599	ENST00000505225	.	.	.	5.6	-10.1	0.00402	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.1363	0.25531	0.5883:0.1505:0.1851:0.0761	.	.	.	.	.	-1	.	.	.	-	.	.	RERE	8344105	0.000000	0.05858	0.293000	0.24932	0.618000	0.37518	-4.091000	0.00297	-2.111000	0.00836	-1.044000	0.02363	.	RERE	-	-	ENSG00000142599		0.592	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	95	1.00	1	A			8421518	8421518	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000505225	ensembl	human	putative	69_37n	splice_site	133	16.35	26	SNP	0.004	C
RERE	473	genome.wustl.edu	37	1	8421932	8421932	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:8421932A>C	ENST00000337907.3	-	18	2541	c.1907T>G	c.(1906-1908)gTg>gGg	p.V636G	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.V82G|RERE_ENST00000377464.1_Missense_Mutation_p.V368G|RERE_ENST00000400908.2_Missense_Mutation_p.V636G	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	636					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTCCTCCTTCACCTTCTGCAG	0.552																																						dbGAP											0													61.0	61.0	61.0					1																	8421932		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1907T>G	1.37:g.8421932A>C	ENSP00000338629:p.Val636Gly		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.V636G	ENST00000337907.3	37	c.1907	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	A	10.38	1.333935	0.24253	.	.	ENSG00000142599	ENST00000337907;ENST00000377464;ENST00000476556;ENST00000400908;ENST00000505225	T;T;T;T	0.05319	3.46;3.46;3.46;3.46	5.44	4.31	0.51392	.	.	.	.	.	T	0.04452	0.0122	N	0.22421	0.69	0.58432	D	0.999995	B;B	0.32653	0.379;0.085	B;B	0.28553	0.089;0.091	T	0.51911	-0.8645	9	0.21540	T	0.41	-16.7254	10.6251	0.45502	0.9243:0.0:0.0757:0.0	.	368;636	B1AKN3;Q9P2R6	.;RERE_HUMAN	G	636;368;82;636;56	ENSP00000338629:V636G;ENSP00000366684:V368G;ENSP00000422246:V82G;ENSP00000383700:V636G	ENSP00000338629:V636G	V	-	2	0	RERE	8344519	1.000000	0.71417	1.000000	0.80357	0.242000	0.25591	5.292000	0.65673	0.909000	0.36697	-0.441000	0.05720	GTG	RERE	-	pfam_Atrophin-like	ENSG00000142599		0.552	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	110	0.85	1	A			8421932	8421932	-1	no_errors	ENST00000337907	ensembl	human	known	69_37n	missense	82	19.61	20	SNP	0.997	C
RET	5979	genome.wustl.edu	37	10	43607604	43607604	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:43607604A>G	ENST00000355710.3	+	8	1812	c.1580A>G	c.(1579-1581)gAg>gGg	p.E527G	RET_ENST00000340058.5_Missense_Mutation_p.E527G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	527					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGACGGCTGGAGTGTGAGGAG	0.662		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	dbGAP	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0													66.0	64.0	64.0					10																	43607604		2199	4295	6494	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1580A>G	10.37:g.43607604A>G	ENSP00000347942:p.Glu527Gly		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin	p.E527G	ENST00000355710.3	37	c.1580	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530450	0.64860	.	.	ENSG00000165731	ENST00000355710;ENST00000498820;ENST00000340058	T;D;T	0.98512	-1.22;-4.97;-1.33	5.73	4.59	0.56863	.	0.140772	0.64402	D	0.000005	D	0.97888	0.9306	L	0.59436	1.845	0.51233	D	0.999915	P;P;P	0.52061	0.653;0.862;0.95	B;P;P	0.55577	0.219;0.507;0.779	D	0.97620	1.0135	10	0.87932	D	0	.	11.5204	0.50546	0.9299:0.0:0.0701:0.0	.	273;527;527	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	G	527;44;527	ENSP00000347942:E527G;ENSP00000419080:E44G;ENSP00000344798:E527G	ENSP00000344798:E527G	E	+	2	0	RET	42927610	1.000000	0.71417	0.922000	0.36590	0.535000	0.34838	5.725000	0.68507	0.999000	0.39023	0.455000	0.32223	GAG	RET	-	pirsf_Tyr_kinase_Ret_rcpt	ENSG00000165731		0.662	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	173	0.00	0	A	NM_020975		43607604	43607604	+1	no_errors	ENST00000355710	ensembl	human	known	69_37n	missense	126	13.70	20	SNP	1.000	G
RFX8	731220	genome.wustl.edu	37	2	102018990	102018990	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:102018990T>G	ENST00000376826.2	-	14	1491	c.1492A>C	c.(1492-1494)Aca>Cca	p.T498P	RFX8_ENST00000428343.1_Missense_Mutation_p.T385P			Q6ZV50	RFX8_HUMAN	RFX family member 8, lacking RFX DNA binding domain	498					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|kidney(1)|stomach(1)	3						CCCATGTGTGTGGGCATCACC	0.607																																						dbGAP											0													56.0	53.0	54.0					2																	102018990		692	1591	2283	-	-	-	SO:0001583	missense	0			AK124976	CCDS46376.1	2q11.2	2012-11-15	2012-11-15		ENSG00000196460	ENSG00000196460			37253	protein-coding gene	gene with protein product			"""regulatory factor X, 8"", ""RFX gene family member 8, lacking RFX DNA binding domain"""				Standard	NM_001145664		Approved	FLJ42986	uc010yvx.1	Q6ZV50	OTTHUMG00000130693	ENST00000376826.2:c.1492A>C	2.37:g.102018990T>G	ENSP00000366022:p.Thr498Pro		B4DQ32	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.T498P	ENST00000376826.2	37	c.1492		2	.	.	.	.	.	.	.	.	.	.	T	11.10	1.539483	0.27563	.	.	ENSG00000196460	ENST00000376826;ENST00000428343	T;T	0.77620	-1.11;0.89	5.23	0.0609	0.14338	.	1.083630	0.07031	N	0.828498	T	0.56587	0.1995	N	0.08118	0	0.09310	N	1	B;B	0.29909	0.255;0.261	B;B	0.28849	0.095;0.044	T	0.41378	-0.9512	10	0.21540	T	0.41	-0.7544	7.8441	0.29417	0.0:0.3459:0.0:0.6541	.	385;498	Q6ZV50-3;Q6ZV50	.;RFX8_HUMAN	P	498;385	ENSP00000366022:T498P;ENSP00000401536:T385P	ENSP00000366022:T498P	T	-	1	0	RFX8	101385422	0.198000	0.23374	0.000000	0.03702	0.002000	0.02628	0.900000	0.28431	-0.140000	0.11394	0.334000	0.21626	ACA	RFX8	-	NULL	ENSG00000196460		0.607	RFX8-201	KNOWN	basic|appris_principal	protein_coding	RFX8	HGNC	protein_coding		98	0.00	0	T	NM_001145664		102018990	102018990	-1	no_errors	ENST00000376826	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	0.001	G
RGL3	57139	genome.wustl.edu	37	19	11527477	11527477	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:11527477T>G	ENST00000380456.3	-	3	435				RGL3_ENST00000393423.3_Intron	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3						small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GGTTCTAGGGTGGAGAATACG	0.612																																					GBM(174;751 2067 17998 27979 33959)	dbGAP											0													36.0	42.0	40.0					19																	11527477		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC014426	CCDS32910.1, CCDS54221.1	19p13.2	2008-02-05				ENSG00000205517			30282	protein-coding gene	gene with protein product						10869344	Standard	NM_001035223		Approved	FLJ32585	uc002mro.2	Q3MIN7		ENST00000380456.3:c.371+32A>C	19.37:g.11527477T>G			B5ME84|B7ZL22|Q0P6G0	RNA	SNP	-	NULL	ENST00000380456.3	37	NULL	CCDS32910.1	19																																																																																			RGL3	-	-	ENSG00000205517		0.612	RGL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL3	HGNC	protein_coding	OTTHUMT00000421208.3	99	1.00	1	T	XM_290867		11527477	11527477	-1	no_errors	ENST00000563436	ensembl	human	known	69_37n	rna	58	22.67	17	SNP	0.002	G
RGL4	266747	genome.wustl.edu	37	22	24039360	24039360	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:24039360T>G	ENST00000290691.5	+	8	2334	c.1164T>G	c.(1162-1164)ggT>ggG	p.G388G	KB-1572G7.2_ENST00000421064.1_RNA|RGL4_ENST00000401461.1_Silent_p.G252G	NM_153615.1	NP_705843.1	Q8IZJ4	RGDSR_HUMAN	ral guanine nucleotide dissociation stimulator-like 4	388	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGGCACAGGGTGTGGTCCCCT	0.612																																						dbGAP											0													84.0	86.0	86.0					22																	24039360		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS13811.1	22q11.23	2008-02-22			ENSG00000159496	ENSG00000159496			31911	protein-coding gene	gene with protein product	"""RalGDS related oncogene"""	612214				9178890, 10851075	Standard	NM_153615		Approved	Rgr	uc002zxn.3	Q8IZJ4	OTTHUMG00000150711	ENST00000290691.5:c.1164T>G	22.37:g.24039360T>G			Q495L8	Missense_Mutation	SNP	superfamily_Ras_GEF_dom	p.C70G	ENST00000290691.5	37	c.208	CCDS13811.1	22	.	.	.	.	.	.	.	.	.	.	t	2.105	-0.405173	0.04832	.	.	ENSG00000159496	ENST00000452208	.	.	.	2.01	-3.44	0.04796	.	.	.	.	.	T	0.25306	0.0615	.	.	.	0.29185	N	0.876253	.	.	.	.	.	.	T	0.29549	-1.0008	4	.	.	.	.	3.5528	0.07853	0.3136:0.4394:0.0:0.247	.	.	.	.	G	70	.	.	C	+	1	0	RGL4	22369360	0.998000	0.40836	0.000000	0.03702	0.007000	0.05969	-0.059000	0.11731	-1.024000	0.03338	-0.541000	0.04245	TGT	RGL4	-	superfamily_Ras_GEF_dom	ENSG00000159496		0.612	RGL4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGL4	HGNC	protein_coding	OTTHUMT00000319711.1	99	0.99	1	T	NM_153615		24039360	24039360	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000452208	ensembl	human	novel	69_37n	missense	68	20.69	18	SNP	0.145	G
RGS16	6004	genome.wustl.edu	37	1	182573364	182573364	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:182573364T>G	ENST00000367558.5	-	1	179	c.31A>C	c.(31-33)Acc>Ccc	p.T11P		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	11					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)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						TCCAGGCAGGTGGTGGGGAAG	0.692																																						dbGAP											0													36.0	29.0	31.0					1																	182573364		2130	4163	6293	-	-	-	SO:0001583	missense	0			U70426	CCDS1348.1	1q25-q31	2008-02-05	2007-08-14		ENSG00000143333	ENSG00000143333		"""Regulators of G-protein signaling"""	9997	protein-coding gene	gene with protein product		602514	"""regulator of G-protein signalling 16"""			9469939	Standard	NM_002928		Approved	A28-RGS14, RGS-r	uc001gpl.4	O15492	OTTHUMG00000035212	ENST00000367558.5:c.31A>C	1.37:g.182573364T>G	ENSP00000356529:p.Thr11Pro		B2R4M4|Q5VYN9|Q99701	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.T11P	ENST00000367558.5	37	c.31	CCDS1348.1	1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.569148	0.65765	.	.	ENSG00000143333	ENST00000367558	T	0.56941	0.43	5.23	2.88	0.33553	.	0.704141	0.14545	N	0.313019	T	0.44498	0.1296	M	0.68952	2.095	0.35699	D	0.815448	P;P	0.38642	0.627;0.641	B;B	0.32289	0.1;0.143	T	0.53005	-0.8499	10	0.87932	D	0	.	5.4776	0.16704	0.153:0.0836:0.0:0.7634	.	11;11	B4DVW5;O15492	.;RGS16_HUMAN	P	11	ENSP00000356529:T11P	ENSP00000356529:T11P	T	-	1	0	RGS16	180839987	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	1.647000	0.37260	0.387000	0.25024	0.528000	0.53228	ACC	RGS16	-	NULL	ENSG00000143333		0.692	RGS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS16	HGNC	protein_coding	OTTHUMT00000085188.1	44	0.00	0	T	NM_002928		182573364	182573364	-1	no_errors	ENST00000367558	ensembl	human	known	69_37n	missense	77	20.62	20	SNP	1.000	G
RGS22	26166	genome.wustl.edu	37	8	101083657	101083657	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:101083657A>G	ENST00000360863.6	-	6	728	c.534T>C	c.(532-534)ccT>ccC	p.P178P	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Silent_p.P178P	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	178					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAGTGGCAGGAGGTGGTAGAC	0.393																																						dbGAP											0													165.0	142.0	149.0					8																	101083657		1848	4092	5940	-	-	-	SO:0001819	synonymous_variant	0			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.534T>C	8.37:g.101083657A>G			A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.P178	ENST00000360863.6	37	c.534	CCDS43758.1	8																																																																																			RGS22	-	NULL	ENSG00000132554		0.393	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	770	0.00	0	A	NM_015668		101083657	101083657	-1	no_errors	ENST00000360863	ensembl	human	known	69_37n	silent	293	19.01	69	SNP	0.000	G
RHBDL3	162494	genome.wustl.edu	37	17	30625152	30625152	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:30625152T>G	ENST00000269051.4	+	6	724	c.710T>G	c.(709-711)gTg>gGg	p.V237G	RHBDL3_ENST00000536287.1_Missense_Mutation_p.V139G|RHBDL3_ENST00000538145.1_Missense_Mutation_p.V229G	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	237						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CAGCTGCTGGTGGGGGTGCCC	0.542																																						dbGAP											0													160.0	134.0	143.0					17																	30625152		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.710T>G	17.37:g.30625152T>G	ENSP00000269051:p.Val237Gly		A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met,pfscan_EF_HAND_2	p.V237G	ENST00000269051.4	37	c.710	CCDS32613.1	17	.	.	.	.	.	.	.	.	.	.	T	25.4	4.633052	0.87660	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.72	5.72	0.89469	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.44993	0.1320	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.98;0.98	T	0.46020	-0.9221	10	0.87932	D	0	-30.2265	16.0091	0.80385	0.0:0.0:0.0:1.0	.	237;229;237	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	G	237;237;229;139	ENSP00000394849:V237G;ENSP00000269051:V237G;ENSP00000442092:V229G;ENSP00000466508:V139G	ENSP00000269051:V237G	V	+	2	0	RHBDL3	27649265	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.375000	0.79646	2.185000	0.69588	0.459000	0.35465	GTG	RHBDL3	-	pfam_Peptidase_S54_rhomboid_dom,pirsf_Peptidase_S54_rhomboid_met	ENSG00000141314		0.542	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RHBDL3	HGNC	protein_coding	OTTHUMT00000447120.1	214	0.47	1	T	NM_138328		30625152	30625152	+1	no_errors	ENST00000269051	ensembl	human	known	69_37n	missense	113	17.52	24	SNP	1.000	G
RHBDF2	79651	genome.wustl.edu	37	17	74471120	74471120	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:74471120T>G	ENST00000313080.4	-	10	1579	c.1306A>C	c.(1306-1308)Acc>Ccc	p.T436P	RHBDF2_ENST00000591885.1_Missense_Mutation_p.T407P|RHBDF2_ENST00000389760.4_Missense_Mutation_p.T407P	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	436					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						ACCAGCTGGGTGGTGACGTGC	0.597																																						dbGAP											0													52.0	38.0	43.0					17																	74471120		2203	4297	6500	-	-	-	SO:0001583	missense	0			BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.1306A>C	17.37:g.74471120T>G	ENSP00000322775:p.Thr436Pro		A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Missense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.T436P	ENST00000313080.4	37	c.1306	CCDS32743.1	17	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222787	0.58668	.	.	ENSG00000129667	ENST00000313080;ENST00000389760;ENST00000389762	T;T	0.57595	0.4;0.39	5.1	2.69	0.31865	.	0.227135	0.43416	D	0.000562	T	0.58206	0.2106	M	0.68952	2.095	0.39459	D	0.967536	D;P;P;P	0.59357	0.985;0.904;0.74;0.917	P;P;B;P	0.52386	0.697;0.616;0.439;0.522	T	0.60845	-0.7182	10	0.48119	T	0.1	-47.0736	10.109	0.42550	0.2664:0.0:0.0:0.7336	.	407;382;436;407	B7Z8H4;Q6ZWP8;Q6PJF5;Q6PJF5-2	.;.;RHDF2_HUMAN;.	P	436;407;382	ENSP00000322775:T436P;ENSP00000374410:T407P	ENSP00000322775:T436P	T	-	1	0	RHBDF2	71982715	0.991000	0.36638	1.000000	0.80357	0.912000	0.54170	1.228000	0.32588	0.738000	0.32606	0.379000	0.24179	ACC	RHBDF2	-	NULL	ENSG00000129667		0.597	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	HGNC	protein_coding	OTTHUMT00000450134.1	72	0.00	0	T	NM_024599		74471120	74471120	-1	no_errors	ENST00000313080	ensembl	human	known	69_37n	missense	30	25.00	10	SNP	0.996	G
RHBG	57127	genome.wustl.edu	37	1	156351626	156351626	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:156351626A>G	ENST00000368249.1	+	6	908	c.870A>G	c.(868-870)ggA>ggG	p.G290G	RHBG_ENST00000255013.3_Silent_p.G221G|RHBG_ENST00000537040.1_Silent_p.G128G|RHBG_ENST00000451864.2_Intron|RHBG_ENST00000368246.2_Silent_p.G290G|RHBG_ENST00000400992.2_Silent_p.G258G	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	290					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CGCTGGCTGGAGGGGTTGTGG	0.567																																						dbGAP											0													94.0	102.0	100.0					1																	156351626		2013	4169	6182	-	-	-	SO:0001819	synonymous_variant	0			AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.870A>G	1.37:g.156351626A>G			A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.G290	ENST00000368249.1	37	c.870		1																																																																																			RHBG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	ENSG00000132677		0.567	RHBG-001	NOVEL	basic	protein_coding	RHBG	HGNC	protein_coding	OTTHUMT00000060589.2	288	0.35	1	A	NM_001256395		156351626	156351626	+1	no_errors	ENST00000368246	ensembl	human	known	69_37n	silent	497	10.93	61	SNP	0.993	G
RHO	6010	genome.wustl.edu	37	3	129249835	129249835	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:129249835A>C	ENST00000296271.3	+	2	572	c.478A>C	c.(478-480)Acc>Ccc	p.T160P		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	160					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|protein phosphorylation (GO:0006468)|protein-chromophore linkage (GO:0018298)|red, far-red light phototransduction (GO:0009585)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|retinoid metabolic process (GO:0001523)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cell-cell junction (GO:0005911)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor inner segment membrane (GO:0060342)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|rough endoplasmic reticulum membrane (GO:0030867)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)|photoreceptor activity (GO:0009881)|retinal binding (GO:0016918)			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CGTTGCCTTCACCTGGGTCAT	0.632																																					Esophageal Squamous(118;214 1623 30842 43234 46940)	dbGAP											0													141.0	112.0	122.0					3																	129249835		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB065668	CCDS3063.1	3q21-q24	2014-01-28	2008-04-16		ENSG00000163914	ENSG00000163914		"""GPCR / Class A : Opsin receptors"""	10012	protein-coding gene	gene with protein product	"""opsin 2, rod pigment"""	180380	"""retinitis pigmentosa 4, autosomal dominant"""	RP4		2016091	Standard	NM_000539		Approved	OPN2, CSNBAD1	uc003emt.3	P08100	OTTHUMG00000159542	ENST00000296271.3:c.478A>C	3.37:g.129249835A>C	ENSP00000296271:p.Thr160Pro		Q16414|Q2M249	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Rhodopsin,prints_7TM_GPCR_Rhodpsn,prints_Opsin,pfscan_GPCR_Rhodpsn_supfam	p.T160P	ENST00000296271.3	37	c.478	CCDS3063.1	3	.	.	.	.	.	.	.	.	.	.	A	22.9	4.351056	0.82132	.	.	ENSG00000163914	ENST00000296271	T	0.73047	-0.71	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.046814	0.85682	D	0.000000	D	0.84570	0.5501	M	0.93854	3.465	0.58432	D	0.999999	D	0.53619	0.961	P	0.56916	0.809	D	0.87991	0.2749	10	0.87932	D	0	.	11.038	0.47814	0.8526:0.0:0.0:0.1474	.	160	P08100	OPSD_HUMAN	P	160	ENSP00000296271:T160P	ENSP00000296271:T160P	T	+	1	0	RHO	130732525	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.142000	0.58044	1.982000	0.57802	0.379000	0.24179	ACC	RHO	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000163914		0.632	RHO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHO	HGNC	protein_coding	OTTHUMT00000356101.1	93	0.00	0	A	NM_000539		129249835	129249835	+1	no_errors	ENST00000296271	ensembl	human	known	69_37n	missense	55	23.29	17	SNP	1.000	C
RIBC1	158787	genome.wustl.edu	37	X	53454979	53454979	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:53454979T>G	ENST00000375327.3	+	4	299	c.146T>G	c.(145-147)gTg>gGg	p.V49G	RIBC1_ENST00000457095.1_Missense_Mutation_p.V49G|RIBC1_ENST00000414955.2_Missense_Mutation_p.V49G	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	49										lung(2)	2						AACAACCAGGTGGGAGACCGA	0.537																																						dbGAP											0													73.0	62.0	66.0					X																	53454979		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.146T>G	X.37:g.53454979T>G	ENSP00000364476:p.Val49Gly		B4E297|E9PDU2|Q5H931|Q96A80	Missense_Mutation	SNP	pfam_RIB43A	p.V49G	ENST00000375327.3	37	c.146	CCDS35299.1	X	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057867	0.36277	.	.	ENSG00000158423	ENST00000329209;ENST00000414955;ENST00000457095;ENST00000375327	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.13	5.13	0.70059	.	0.131944	0.49916	D	0.000136	T	0.58148	0.2102	M	0.83603	2.65	0.44908	D	0.997923	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.99;0.998	T	0.64816	-0.6318	10	0.87932	D	0	-16.5577	13.0368	0.58877	0.0:0.0:0.0:1.0	.	49;49;49	E9PDU2;Q8N443;Q8N443-2	.;RIBC1_HUMAN;.	G	49	ENSP00000332142:V49G;ENSP00000401463:V49G;ENSP00000402080:V49G;ENSP00000364476:V49G	ENSP00000332142:V49G	V	+	2	0	RIBC1	53471704	1.000000	0.71417	0.415000	0.26534	0.032000	0.12392	2.808000	0.47963	1.718000	0.51419	0.417000	0.27973	GTG	RIBC1	-	pfam_RIB43A	ENSG00000158423		0.537	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RIBC1	HGNC	protein_coding	OTTHUMT00000056762.1	251	0.40	1	T	NM_144968		53454979	53454979	+1	no_errors	ENST00000375327	ensembl	human	known	69_37n	missense	238	13.36	37	SNP	0.980	G
RIMBP3B	440804	genome.wustl.edu	37	22	21742772	21742772	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:21742772A>C	ENST00000434111.1	+	1	5110	c.4625A>C	c.(4624-4626)cAc>cCc	p.H1542P	SCARNA18_ENST00000516505.1_RNA|SCARNA17_ENST00000516211.1_RNA|RN7SKP63_ENST00000363187.1_RNA	NM_001128635.1	NP_001122107.1	A6NNM3	RIM3B_HUMAN	RIMS binding protein 3B	1542																	TCTGTGGCCCACCTCGAGGAC	0.607																																						dbGAP											0													53.0	65.0	61.0					22																	21742772		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46668.1	22q11.21	2008-10-23			ENSG00000196934	ENSG00000274600			33891	protein-coding gene	gene with protein product		612700				17855024	Standard	NM_001128635		Approved			A6NNM3	OTTHUMG00000150819	ENST00000434111.1:c.4625A>C	22.37:g.21742772A>C	ENSP00000407925:p.His1542Pro			Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.H1542P	ENST00000434111.1	37	c.4625	CCDS46668.1	22	.	.	.	.	.	.	.	.	.	.	A	0.460	-0.889317	0.02511	.	.	ENSG00000196934	ENST00000434111;ENST00000357029	T	0.17528	2.27	2.84	0.348	0.16026	.	0.925881	0.09130	N	0.844470	T	0.15392	0.0371	L	0.33485	1.01	0.09310	N	1	D	0.56968	0.978	P	0.51615	0.675	T	0.20140	-1.0284	10	0.20519	T	0.43	-0.205	2.8162	0.05456	0.5757:0.2682:0.1562:0.0	.	1448	A6NNM3	RIM3B_HUMAN	P	1542;1448	ENSP00000407925:H1542P	ENSP00000349531:H1448P	H	+	2	0	RIMBP3B	20072772	0.000000	0.05858	0.052000	0.19188	0.055000	0.15305	-0.454000	0.06770	0.334000	0.23590	0.373000	0.22412	CAC	RIMBP3B	-	NULL	ENSG00000196934		0.607	RIMBP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3B	HGNC	protein_coding	OTTHUMT00000320196.2	255	0.39	1	A	XM_036936		21742772	21742772	+1	no_errors	ENST00000434111	ensembl	human	known	69_37n	missense	239	11.36	31	SNP	0.099	C
RIMKLB	57494	genome.wustl.edu	37	12	8866493	8866493	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:8866493T>G	ENST00000538135.1	+	2	856	c.31T>G	c.(31-33)Ttt>Gtt	p.F11V	RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000357529.3_Missense_Mutation_p.F11V|RIMKLB_ENST00000535829.1_Missense_Mutation_p.F11V			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	11					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAAGTTGTGGTTTTTGACAGA	0.443																																						dbGAP											0													127.0	127.0	127.0					12																	8866493		1951	4145	6096	-	-	-	SO:0001583	missense	0			AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.31T>G	12.37:g.8866493T>G	ENSP00000440943:p.Phe11Val		B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX	p.F11V	ENST00000538135.1	37	c.31	CCDS41748.1	12	.	.	.	.	.	.	.	.	.	.	T	19.56	3.851354	0.71719	.	.	ENSG00000166532	ENST00000541044;ENST00000539923;ENST00000537189;ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	U	0.000000	T	0.55955	0.1953	L	0.55481	1.735	0.58432	D	0.999998	P;P	0.42296	0.775;0.728	B;B	0.41412	0.356;0.253	T	0.58730	-0.7585	9	0.45353	T	0.12	.	14.4973	0.67698	0.0:0.0:0.0:1.0	.	11;11	Q9ULI2-2;Q9ULI2	.;RIMKB_HUMAN	V	11;11;72;11;11;11	.	ENSP00000350136:F11V	F	+	1	0	RIMKLB	8757760	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.252000	0.65445	2.103000	0.63969	0.528000	0.53228	TTT	RIMKLB	-	tigrfam_RpS6_RimK/Lys_biosynth_LsyX	ENSG00000166532		0.443	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMKLB	HGNC	protein_coding	OTTHUMT00000398874.1	351	0.56	2	T	NM_020734		8866493	8866493	+1	no_errors	ENST00000357529	ensembl	human	known	69_37n	missense	286	10.34	33	SNP	1.000	G
RIMS3	9783	genome.wustl.edu	37	1	41092245	41092245	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:41092245T>G	ENST00000372684.3	-	8	1340	c.871A>C	c.(871-873)Acc>Ccc	p.T291P	RIMS3_ENST00000372683.1_Missense_Mutation_p.T291P	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	291					calcium ion-dependent exocytosis (GO:0017156)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			AGGCGCCTGGTGAGGGATCCG	0.632																																						dbGAP											0													58.0	55.0	56.0					1																	41092245		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC003103	CCDS30687.1	1p34.2	2013-09-19			ENSG00000117016	ENSG00000117016			21292	protein-coding gene	gene with protein product		611600				12620390, 10748113	Standard	NM_014747		Approved	RIM3, NIM3	uc001cfu.1	Q9UJD0	OTTHUMG00000007453	ENST00000372684.3:c.871A>C	1.37:g.41092245T>G	ENSP00000361769:p.Thr291Pro		D3DPV8|Q92511|X5D7U7	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T291P	ENST00000372684.3	37	c.871	CCDS30687.1	1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.154520	0.78114	.	.	ENSG00000117016	ENST00000372684;ENST00000372683	T;T	0.39997	1.05;1.05	4.59	4.59	0.56863	.	0.047984	0.85682	D	0.000000	T	0.39489	0.1080	M	0.68593	2.085	0.80722	D	1	P	0.40398	0.716	B	0.34931	0.192	T	0.47100	-0.9143	10	0.66056	D	0.02	-28.3564	11.9736	0.53078	0.0:0.0:0.0:1.0	.	291	Q9UJD0	RIMS3_HUMAN	P	291	ENSP00000361769:T291P;ENSP00000361768:T291P	ENSP00000361768:T291P	T	-	1	0	RIMS3	40864832	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.959000	0.63666	1.930000	0.55929	0.459000	0.35465	ACC	RIMS3	-	NULL	ENSG00000117016		0.632	RIMS3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RIMS3	HGNC	protein_coding	OTTHUMT00000019585.1	132	0.75	1	T	NM_014747		41092245	41092245	-1	no_errors	ENST00000372683	ensembl	human	known	69_37n	missense	88	12.00	12	SNP	1.000	G
RIPK3	11035	genome.wustl.edu	37	14	24808645	24808645	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:24808645T>G	ENST00000216274.5	-	2	380				RIPK3_ENST00000554338.1_5'UTR|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3						activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GCGGCTGGGGTCAACCGGGGT	0.612																																					Pancreas(58;918 1191 4668 13304 15331)	dbGAP											0													90.0	98.0	95.0					14																	24808645		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.161+17A>C	14.37:g.24808645T>G			B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	RNA	SNP	-	NULL	ENST00000216274.5	37	NULL	CCDS9628.1	14																																																																																			RIPK3	-	-	ENSG00000129465		0.612	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK3	HGNC	protein_coding	OTTHUMT00000073203.4	65	0.00	0	T	NM_006871		24808645	24808645	-1	no_errors	ENST00000554338	ensembl	human	known	69_37n	rna	57	22.97	17	SNP	0.000	G
CLDN2	9075	genome.wustl.edu	37	X	106144760	106144760	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:106144760A>C	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000276173.4_Silent_p.G80G|RIPPLY1_ENST00000411805.1_Intron	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCGTTGCCCCACCAGCAGCCT	0.488																																						dbGAP											0													84.0	86.0	85.0					X																	106144760		2017	4172	6189	-	-	-	SO:0001627	intron_variant	0			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+1026A>C	X.37:g.106144760A>C			B2R6B9	Silent	SNP	NULL	p.G80	ENST00000541806.1	37	c.240	CCDS14524.1	X																																																																																			RIPPLY1	-	NULL	ENSG00000147223		0.488	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPPLY1	HGNC	protein_coding	OTTHUMT00000057815.1	114	0.00	0	A			106144760	106144760	-1	no_errors	ENST00000276173	ensembl	human	known	69_37n	silent	102	17.74	22	SNP	0.008	C
CLDN2	9075	genome.wustl.edu	37	X	106145377	106145377	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:106145377A>C	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000276173.4_Missense_Mutation_p.V75G|RIPPLY1_ENST00000411805.1_Intron	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CACCAAATCCACCAGCTTCCT	0.537																																						dbGAP											0													78.0	77.0	77.0					X																	106145377		2029	4166	6195	-	-	-	SO:0001627	intron_variant	0			AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+1643A>C	X.37:g.106145377A>C			B2R6B9	Missense_Mutation	SNP	NULL	p.V75G	ENST00000541806.1	37	c.224	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	A	11.91	1.778398	0.31502	.	.	ENSG00000147223	ENST00000276173	.	.	.	4.11	2.94	0.34122	.	0.732831	0.12161	N	0.494015	T	0.27731	0.0682	L	0.31664	0.95	0.09310	N	0.999994	P	0.48016	0.904	P	0.45099	0.469	T	0.07501	-1.0769	9	0.40728	T	0.16	.	5.432	0.16458	0.8729:0.0:0.1271:0.0	.	75	Q0D2K3	RIPP1_HUMAN	G	75	.	ENSP00000276173:V75G	V	-	2	0	RIPPLY1	106032033	0.002000	0.14202	0.006000	0.13384	0.775000	0.43874	1.611000	0.36879	0.729000	0.32403	0.356000	0.21956	GTG	RIPPLY1	-	NULL	ENSG00000147223		0.537	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPPLY1	HGNC	protein_coding	OTTHUMT00000057815.1	173	0.00	0	A			106145377	106145377	-1	no_errors	ENST00000276173	ensembl	human	known	69_37n	missense	165	11.29	21	SNP	0.006	C
RLTPR	146206	genome.wustl.edu	37	16	67685161	67685161	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:67685161T>G	ENST00000334583.6	+	23	2584	c.2256T>G	c.(2254-2256)ggT>ggG	p.G752G	RLTPR_ENST00000545661.1_Silent_p.G716G	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	752					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGCCCCAGGGTGAAGCCGCTG	0.607																																						dbGAP											0													53.0	61.0	58.0					16																	67685161		2148	4258	6406	-	-	-	SO:0001819	synonymous_variant	0			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.2256T>G	16.37:g.67685161T>G			B8X2Z3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.G752	ENST00000334583.6	37	c.2256	CCDS45513.1	16																																																																																			RLTPR	-	NULL	ENSG00000159753		0.607	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	106	0.93	1	T	NM_001013838		67685161	67685161	+1	no_errors	ENST00000334583	ensembl	human	known	69_37n	silent	58	22.67	17	SNP	0.995	G
RNF103	7844	genome.wustl.edu	37	2	86831014	86831014	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:86831014C>G	ENST00000237455.4	-	4	2978	c.2010G>C	c.(2008-2010)aaG>aaC	p.K670N	RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103_ENST00000477307.1_5'Flank|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	670					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CATATGGCTGCTTTTTTTTAT	0.443																																						dbGAP											0													38.0	34.0	35.0					2																	86831014		2134	4127	6261	-	-	-	SO:0001583	missense	0			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.2010G>C	2.37:g.86831014C>G	ENSP00000237455:p.Lys670Asn		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.K670N	ENST00000237455.4	37	c.2010	CCDS33237.1	2	.	.	.	.	.	.	.	.	.	.	C	14.41	2.528245	0.44969	.	.	ENSG00000239305	ENST00000237455	T	0.68479	-0.33	5.56	4.68	0.58851	Zinc finger, RING/FYVE/PHD-type (1);	0.046951	0.85682	D	0.000000	T	0.55273	0.1910	N	0.17631	0.505	0.46725	D	0.999179	P	0.48162	0.906	P	0.46585	0.521	T	0.60296	-0.7291	10	0.72032	D	0.01	-15.4069	10.1187	0.42607	0.0:0.8509:0.0:0.1491	.	670	O00237	RN103_HUMAN	N	670	ENSP00000237455:K670N	ENSP00000237455:K670N	K	-	3	2	RNF103	86684525	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.361000	0.34136	2.614000	0.88457	0.467000	0.42956	AAG	RNF103	-	NULL	ENSG00000239305		0.443	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2	92	0.00	0	C	NM_005667		86831014	86831014	-1	no_errors	ENST00000237455	ensembl	human	known	69_37n	missense	98	10.91	12	SNP	1.000	G
RNF17	56163	genome.wustl.edu	37	13	25424488	25424488	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:25424488T>G	ENST00000255324.5	+	23	3163	c.3111T>G	c.(3109-3111)ggT>ggG	p.G1037G	RNF17_ENST00000381921.1_Silent_p.G1037G|RNF17_ENST00000339524.3_Silent_p.G89G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1037					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GACCAGCTGGTGGGAGTGACA	0.373																																						dbGAP											0													129.0	103.0	112.0					13																	25424488		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3111T>G	13.37:g.25424488T>G			Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.G1037	ENST00000255324.5	37	c.3111	CCDS9308.2	13																																																																																			RNF17	-	NULL	ENSG00000132972		0.373	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	182	0.00	0	T	NM_031994		25424488	25424488	+1	no_errors	ENST00000255324	ensembl	human	known	69_37n	silent	190	15.18	34	SNP	1.000	G
RNF213	57674	genome.wustl.edu	37	17	78291004	78291004	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:78291004T>G	ENST00000582970.1	+	16	2971	c.2828T>G	c.(2827-2829)gTg>gGg	p.V943G	RNF213_ENST00000319921.4_Missense_Mutation_p.V943G|RNF213_ENST00000456466.1_Missense_Mutation_p.V943G|RNF213_ENST00000508628.2_Missense_Mutation_p.V992G|CTD-2047H16.2_ENST00000576808.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	943					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)			AGGCGGCTGGTGGAAATCCAA	0.542																																						dbGAP											0													88.0	80.0	83.0					17																	78291004		2203	4297	6500	-	-	-	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.2828T>G	17.37:g.78291004T>G	ENSP00000464087:p.Val943Gly		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.V943G	ENST00000582970.1	37	c.2828	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	t	11.30	1.596708	0.28445	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.18174	2.23;2.23	3.71	3.71	0.42584	.	0.535422	0.15676	N	0.250159	T	0.37046	0.0989	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.99;0.998	T	0.11767	-1.0574	10	0.87932	D	0	-28.6447	9.1423	0.36910	0.0:0.0:0.0:1.0	.	943;943	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	G	943;992;943;943	ENSP00000392123:V943G;ENSP00000324392:V943G	ENSP00000324392:V943G	V	+	2	0	RNF213	75905599	1.000000	0.71417	0.986000	0.45419	0.921000	0.55340	1.997000	0.40786	1.937000	0.56155	0.525000	0.51046	GTG	RNF213	-	NULL	ENSG00000173821		0.542	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	217	0.91	2	T	NM_020914		78291004	78291004	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	146	16.57	29	SNP	0.988	G
RNF213	57674	genome.wustl.edu	37	17	78325568	78325568	+	Missense_Mutation	SNP	T	T	G	rs141165583	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:78325568T>G	ENST00000582970.1	+	32	10411	c.10268T>G	c.(10267-10269)gTg>gGg	p.V3423G	RNF213_ENST00000508628.2_Missense_Mutation_p.V3472G|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V1496G	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3423					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)			CTGTCCCGGGTGGGAAGAGGA	0.338																																						dbGAP											0													71.0	79.0	76.0					17																	78325568		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.10268T>G	17.37:g.78325568T>G	ENSP00000464087:p.Val3423Gly		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.V3423G	ENST00000582970.1	37	c.10268	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	T	13.39	2.221646	0.39300	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.25749	1.78	4.88	3.79	0.43588	.	0.203313	0.49916	D	0.000136	T	0.16642	0.0400	N	0.24115	0.695	0.43678	D	0.996113	B	0.28552	0.215	B	0.25140	0.058	T	0.07046	-1.0793	10	0.62326	D	0.03	.	10.164	0.42868	0.0:0.0795:0.0:0.9204	.	1496	Q63HN8	RN213_HUMAN	G	3423;3472;1496	ENSP00000338218:V1496G	ENSP00000338218:V1496G	V	+	2	0	RNF213	75940163	1.000000	0.71417	0.995000	0.50966	0.815000	0.46073	6.142000	0.71750	1.953000	0.56701	0.460000	0.39030	GTG	RNF213	-	NULL	ENSG00000173821		0.338	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	237	0.42	1	T	NM_020914		78325568	78325568	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	156	14.29	26	SNP	1.000	G
RNF220	55182	genome.wustl.edu	37	1	45092077	45092077	+	Intron	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:45092077A>G	ENST00000355387.2	+	5	1356				RNF220_ENST00000372247.2_Intron|RNF220_ENST00000361799.2_Intron|RNF220_ENST00000443020.2_Intron			Q5VTB9	RN220_HUMAN	ring finger protein 220						protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCAGGTGAGGAGGGGTGGTGA	0.587																																						dbGAP											0													66.0	51.0	56.0					1																	45092077		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.906+7A>G	1.37:g.45092077A>G			B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	RNA	SNP	-	NULL	ENST00000355387.2	37	NULL	CCDS510.1	1																																																																																			RNF220	-	-	ENSG00000187147		0.587	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	72	0.00	0	A	NM_018150		45092077	45092077	+1	no_errors	ENST00000496262	ensembl	human	known	69_37n	rna	65	16.67	13	SNP	0.955	G
RNF40	9810	genome.wustl.edu	37	16	30779794	30779794	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:30779794T>G	ENST00000324685.6	+	13	2357	c.1922T>G	c.(1921-1923)gTg>gGg	p.V641G	RNF40_ENST00000563683.1_Missense_Mutation_p.V601G|RNF40_ENST00000357890.5_Missense_Mutation_p.V541G|RNF40_ENST00000402121.3_Missense_Mutation_p.V333G	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	641					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AAGGCCAAGGTGGAAGAAACC	0.607																																						dbGAP											0													67.0	82.0	77.0					16																	30779794		2148	4262	6410	-	-	-	SO:0001583	missense	0			AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.1922T>G	16.37:g.30779794T>G	ENSP00000325677:p.Val641Gly		Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.V641G	ENST00000324685.6	37	c.1922	CCDS10691.1	16	.	.	.	.	.	.	.	.	.	.	T	9.624	1.134660	0.21123	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121	T;T;T	0.30981	1.51;1.51;1.51	5.87	2.2	0.27929	.	0.833156	0.11200	N	0.588913	T	0.16811	0.0404	N	0.19112	0.55	0.50632	D	0.999889	B;B;B;B	0.19200	0.001;0.034;0.0;0.0	B;B;B;B	0.14023	0.002;0.01;0.001;0.001	T	0.09729	-1.0661	10	0.26408	T	0.33	-11.3204	4.4003	0.11383	0.0:0.3869:0.1844:0.4287	.	333;541;641;641	F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;BRE1B_HUMAN	G	641;541;333	ENSP00000325677:V641G;ENSP00000350563:V541G;ENSP00000384942:V333G	ENSP00000325677:V641G	V	+	2	0	RNF40	30687295	1.000000	0.71417	0.909000	0.35828	0.964000	0.63967	1.148000	0.31614	0.446000	0.26666	0.533000	0.62120	GTG	RNF40	-	NULL	ENSG00000103549		0.607	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF40	HGNC	protein_coding	OTTHUMT00000255524.2	132	0.00	0	T	NM_014771		30779794	30779794	+1	no_errors	ENST00000324685	ensembl	human	known	69_37n	missense	78	16.13	15	SNP	0.994	G
RPL36A	6173	genome.wustl.edu	37	X	100646780	100646780	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:100646780T>G	ENST00000553110.3	+	3	231	c.147T>G	c.(145-147)ggT>ggG	p.G49G	RPL36A_ENST00000471855.1_5'UTR|RPL36A-HNRNPH2_ENST00000409170.3_Missense_Mutation_p.V60G|RPL36A_ENST00000427805.2_Silent_p.G85G			P83881	RL36A_HUMAN	ribosomal protein L36a	49					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			liver(4)|lung(1)|prostate(1)	6						GTGGCTATGGTGGGCAAACTA	0.423																																						dbGAP											0													152.0	129.0	137.0					X																	100646780		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001781	CCDS14483.1, CCDS14483.2	Xq22.1	2011-04-06	2002-01-15	2002-01-18	ENSG00000241343	ENSG00000241343		"""L ribosomal proteins"""	10359	protein-coding gene	gene with protein product		300902	"""ribosomal protein L44"""	RPL44		3461443	Standard	NM_021029		Approved	L36A		P83881	OTTHUMG00000022027	ENST00000553110.3:c.147T>G	X.37:g.100646780T>G			P09896|P10661|Q08ES5|Q5J9I6	Missense_Mutation	SNP	pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd_dom	p.W59G	ENST00000553110.3	37	c.175		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.55|11.55	1.673128|1.673128	0.29693|0.29693	.|.	.|.	ENSG00000257529|ENSG00000241343	ENST00000409170|ENST00000392994	.|.	.|.	.|.	5.85|5.85	1.99|1.99	0.26369|0.26369	.|.	.|.	.|.	.|.	.|.	T|T	0.53514|0.53514	0.1801|0.1801	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.39292|0.39292	-0.9621|-0.9621	4|4	.|.	.|.	.|.	-19.8244|-19.8244	5.9204|5.9204	0.19078|0.19078	0.0:0.1897:0.2329:0.5773|0.0:0.1897:0.2329:0.5773	.|.	.|.	.|.	.|.	G|G	60|68	.|.	.|.	V|W	+|+	2|1	0|0	RP1-164F3.9|RPL36A	100533436|100533436	0.997000|0.997000	0.39634|0.39634	0.990000|0.990000	0.47175|0.47175	0.993000|0.993000	0.82548|0.82548	0.293000|0.293000	0.19029|0.19029	-0.002000|-0.002000	0.14469|0.14469	0.381000|0.381000	0.24937|0.24937	GTG|TGG	RPL36A	-	pfam_Ribosomal_L44e,superfamily_Ribosomal_zn-bd_dom	ENSG00000241343		0.423	RPL36A-201	KNOWN	basic|appris_principal	protein_coding	RPL36A	HGNC	protein_coding		362	0.82	3	T	NM_021029		100646780	100646780	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000372849	ensembl	human	known	69_37n	missense	263	12.04	36	SNP	0.989	G
RPL8	6132	genome.wustl.edu	37	8	146015839	146015839	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:146015839A>C	ENST00000262584.3	-	5	748	c.516T>G	c.(514-516)ggT>ggG	p.G172G	RPL8_ENST00000528957.1_Silent_p.G172G|RPL8_ENST00000394920.2_Silent_p.G172G|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000527914.1_Silent_p.G63G	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	172					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		CAATTCGGCCACCTCCAGCCA	0.582																																						dbGAP											0													84.0	82.0	83.0					8																	146015839		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.516T>G	8.37:g.146015839A>C			A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Silent	SNP	pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_L2	p.G172	ENST00000262584.3	37	c.516	CCDS6433.1	8																																																																																			RPL8	-	pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2	ENSG00000161016		0.582	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL8	HGNC	protein_coding	OTTHUMT00000382948.1	113	0.88	1	A	NM_000973		146015839	146015839	-1	no_errors	ENST00000262584	ensembl	human	known	69_37n	silent	127	21.82	36	SNP	0.968	C
RPS5	6193	genome.wustl.edu	37	19	58899536	58899536	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:58899536T>G	ENST00000596046.1	+	1	881	c.32T>G	c.(31-33)gTg>gGg	p.V11G	RPS5_ENST00000601521.1_Missense_Mutation_p.V11G|RPS5_ENST00000598495.1_Missense_Mutation_p.V11G|RPS5_ENST00000196551.3_Missense_Mutation_p.V11G|RPS5_ENST00000598098.1_Missense_Mutation_p.V11G|MIR4754_ENST00000582477.1_RNA			P46782	RS5_HUMAN	ribosomal protein S5	11					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GCACCAGCGGTGGCAGAGACC	0.547																																						dbGAP											0													80.0	61.0	67.0					19																	58899536		2203	4299	6502	-	-	-	SO:0001583	missense	0			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.32T>G	19.37:g.58899536T>G	ENSP00000472985:p.Val11Gly		B2R4T2|Q96BN0	Missense_Mutation	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.V11G	ENST00000596046.1	37	c.32	CCDS12978.1	19	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217308	0.39201	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.12	3.02	0.34903	.	0.071228	0.53938	D	0.000044	T	0.42245	0.1194	L	0.33485	1.01	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.40156	-0.9578	9	0.46703	T	0.11	-31.8855	7.9524	0.30023	0.0:0.0:0.3309:0.6691	.	11	P46782	RS5_HUMAN	G	11	.	ENSP00000196551:V11G	V	+	2	0	RPS5	63591348	1.000000	0.71417	0.799000	0.32177	0.564000	0.35744	4.920000	0.63390	1.871000	0.54225	0.533000	0.62120	GTG	RPS5	-	NULL	ENSG00000083845		0.547	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1	177	0.00	0	T	NM_001009		58899536	58899536	+1	no_errors	ENST00000196551	ensembl	human	known	69_37n	missense	101	15.00	18	SNP	0.997	G
RPS6KA1	6195	genome.wustl.edu	37	1	26900615	26900615	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:26900615A>C	ENST00000374168.2	+	22	2285	c.2131A>C	c.(2131-2133)Acc>Ccc	p.T711P	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.T720P|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.T619P|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.T619P|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.T700P|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.T695P	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	711					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|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 cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTCCAAGCCCACCCCCCAGCT	0.627																																						dbGAP											0													129.0	108.0	115.0					1																	26900615		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.2131A>C	1.37:g.26900615A>C	ENSP00000363283:p.Thr711Pro		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T720P	ENST00000374168.2	37	c.2158	CCDS284.1	1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066687	0.36470	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382;ENST00000438977	T;T;T;T;T;T;T	0.39406	1.08;1.08;1.08;1.08;1.08;1.08;1.08	5.44	5.44	0.79542	Protein kinase-like domain (1);	0.152716	0.56097	D	0.000023	T	0.24967	0.0606	N	0.12182	0.205	0.43579	D	0.995912	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07046	-1.0793	10	0.33940	T	0.23	.	10.6725	0.45766	0.9251:0.0:0.0749:0.0	.	720;711	Q15418-2;Q15418	.;KS6A1_HUMAN	P	711;700;619;619;695;720;70	ENSP00000363283:T711P;ENSP00000363281:T700P;ENSP00000431651:T619P;ENSP00000363277:T619P;ENSP00000432281:T695P;ENSP00000435412:T720P;ENSP00000403548:T70P	ENSP00000363277:T619P	T	+	1	0	RPS6KA1	26773202	0.996000	0.38824	1.000000	0.80357	0.948000	0.59901	2.462000	0.45049	2.060000	0.61445	0.260000	0.18958	ACC	RPS6KA1	-	superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II	ENSG00000117676		0.627	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1	127	0.77	1	A	NM_002953		26900615	26900615	+1	no_errors	ENST00000531382	ensembl	human	known	69_37n	missense	138	18.13	31	SNP	1.000	C
RPS6KB2	6199	genome.wustl.edu	37	11	67200889	67200889	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:67200889A>C	ENST00000312629.5	+	10	922	c.877A>C	c.(877-879)Acc>Ccc	p.T293P	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCCCTACCTCACCCCAGATGC	0.597																																						dbGAP											0													83.0	94.0	90.0					11																	67200889		1937	4122	6059	-	-	-	SO:0001583	missense	0			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.877A>C	11.37:g.67200889A>C	ENSP00000308413:p.Thr293Pro		B2RMZ9|B4DML8|O94809|Q9UEC1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	p.T293P	ENST00000312629.5	37	c.877	CCDS41677.1	11	.	.	.	.	.	.	.	.	.	.	A	22.8	4.338647	0.81911	.	.	ENSG00000175634	ENST00000312629	T	0.54279	0.58	4.88	4.88	0.63580	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	0.57169	0.2035	N	0.16790	0.44	0.80722	D	1	P;D	0.89917	0.946;1.0	P;D	0.79108	0.585;0.992	T	0.64305	-0.6439	10	0.87932	D	0	.	14.3112	0.66416	1.0:0.0:0.0:0.0	.	293;293	Q9BRS0;Q9UBS0	.;KS6B2_HUMAN	P	293	ENSP00000308413:T293P	ENSP00000308413:T293P	T	+	1	0	RPS6KB2	66957465	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	8.465000	0.90383	2.039000	0.60335	0.459000	0.35465	ACC	RPS6KB2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_cat_dom	ENSG00000175634		0.597	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB2	HGNC	protein_coding	OTTHUMT00000395508.1	82	0.00	0	A	NM_003952		67200889	67200889	+1	no_errors	ENST00000312629	ensembl	human	known	69_37n	missense	71	19.10	17	SNP	1.000	C
RRP12	23223	genome.wustl.edu	37	10	99118365	99118365	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:99118365A>C	ENST00000370992.4	-	33	3831	c.3720T>G	c.(3718-3720)ggT>ggG	p.G1240G	RRP12_ENST00000536831.1_Silent_p.G958G|RRP12_ENST00000315563.6_Silent_p.G1140G|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Silent_p.G1179G	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1240						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCTTCACATCACCTTTTGCTT	0.577																																						dbGAP											0													175.0	174.0	174.0					10																	99118365		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3720T>G	10.37:g.99118365A>C			B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Silent	SNP	pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold	p.G1240	ENST00000370992.4	37	c.3720	CCDS7457.1	10																																																																																			RRP12	-	NULL	ENSG00000052749		0.577	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	HGNC	protein_coding	OTTHUMT00000049699.4	156	0.00	0	A	NM_015179		99118365	99118365	-1	no_errors	ENST00000370992	ensembl	human	known	69_37n	silent	122	14.08	20	SNP	0.957	C
RRP9	9136	genome.wustl.edu	37	3	51967602	51967602	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:51967602A>C	ENST00000232888.6	-	15	1421	c.1348T>G	c.(1348-1350)Tgg>Ggg	p.W450G		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	450					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TTGATTCTCCACCATCGGCCA	0.577																																						dbGAP											0													79.0	85.0	83.0					3																	51967602		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"""WD repeat domain containing"""	16829	protein-coding gene	gene with protein product			"""RNA, U3 small nucleolar interacting protein 2"""	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.1348T>G	3.37:g.51967602A>C	ENSP00000232888:p.Trp450Gly		B2R996|Q8IZ30	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W450G	ENST00000232888.6	37	c.1348	CCDS2837.1	3	.	.	.	.	.	.	.	.	.	.	A	21.7	4.187246	0.78789	.	.	ENSG00000114767	ENST00000232888	T	0.50001	0.76	5.37	5.37	0.77165	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62295	0.2416	L	0.55743	1.74	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.63470	-0.6630	10	0.51188	T	0.08	-21.838	14.3321	0.66564	1.0:0.0:0.0:0.0	.	450	O43818	U3IP2_HUMAN	G	450	ENSP00000232888:W450G	ENSP00000232888:W450G	W	-	1	0	RRP9	51942642	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.447000	0.90332	2.030000	0.59900	0.379000	0.24179	TGG	RRP9	-	superfamily_WD40_repeat_dom	ENSG00000114767		0.577	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP9	HGNC	protein_coding	OTTHUMT00000346637.1	128	0.00	0	A	NM_004704		51967602	51967602	-1	no_errors	ENST00000232888	ensembl	human	known	69_37n	missense	97	13.27	15	SNP	1.000	C
RSPH3	83861	genome.wustl.edu	37	6	159420633	159420633	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:159420633T>G	ENST00000252655.1	-	1	565	c.376A>C	c.(376-378)Acc>Ccc	p.T126P	RP1-111C20.4_ENST00000607796.1_RNA|RSPH3_ENST00000449822.1_5'UTR|RSPH3_ENST00000297262.3_Missense_Mutation_p.T126P|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	126										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TTGAAGCAGGTGGGCGCTAAG	0.642																																						dbGAP											0													107.0	115.0	112.0					6																	159420633		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.376A>C	6.37:g.159420633T>G	ENSP00000252655:p.Thr126Pro		Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	pfam_Radial_spoke_3	p.T126P	ENST00000252655.1	37	c.376	CCDS5260.1	6	.	.	.	.	.	.	.	.	.	.	T	15.95	2.982939	0.53827	.	.	ENSG00000130363	ENST00000252655;ENST00000297262	T;T	0.17528	2.38;2.27	5.31	1.11	0.20524	.	0.000000	0.49305	D	0.000145	T	0.04407	0.0121	L	0.34521	1.04	0.09310	N	1	B;B	0.24317	0.101;0.061	B;B	0.27796	0.083;0.038	T	0.31052	-0.9957	10	0.72032	D	0.01	-27.3269	5.9786	0.19395	0.1555:0.0:0.4407:0.4038	.	126;126	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	P	126	ENSP00000252655:T126P;ENSP00000297262:T126P	ENSP00000252655:T126P	T	-	1	0	RSPH3	159340621	1.000000	0.71417	0.116000	0.21606	0.078000	0.17371	0.344000	0.19962	0.807000	0.34208	0.460000	0.39030	ACC	RSPH3	-	NULL	ENSG00000130363		0.642	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH3	HGNC	protein_coding		128	0.77	1	T	NM_031924		159420633	159420633	-1	no_errors	ENST00000252655	ensembl	human	known	69_37n	missense	112	18.25	25	SNP	0.011	G
RSPH3	83861	genome.wustl.edu	37	6	159420645	159420645	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:159420645T>G	ENST00000252655.1	-	1	553	c.364A>C	c.(364-366)Acc>Ccc	p.T122P	RP1-111C20.4_ENST00000607796.1_RNA|RSPH3_ENST00000449822.1_5'UTR|RSPH3_ENST00000297262.3_Missense_Mutation_p.T122P|RP1-111C20.4_ENST00000606470.1_RNA|RSPH3_ENST00000367069.2_5'UTR|RP1-111C20.4_ENST00000607391.1_RNA	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	122										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GGCGCTAAGGTGTTGTGGGAC	0.642																																						dbGAP											0													117.0	125.0	122.0					6																	159420645		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.364A>C	6.37:g.159420645T>G	ENSP00000252655:p.Thr122Pro		Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	pfam_Radial_spoke_3	p.T122P	ENST00000252655.1	37	c.364	CCDS5260.1	6	.	.	.	.	.	.	.	.	.	.	T	14.73	2.623592	0.46840	.	.	ENSG00000130363	ENST00000252655;ENST00000297262	T;T	0.14893	2.54;2.47	5.15	-10.3	0.00346	.	1.612600	0.03634	N	0.238369	T	0.02119	0.0066	N	0.24115	0.695	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.19289	-1.0310	10	0.59425	D	0.04	-0.003	0.8058	0.01084	0.2699:0.1055:0.2294:0.3951	.	122;122	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	P	122	ENSP00000252655:T122P;ENSP00000297262:T122P	ENSP00000252655:T122P	T	-	1	0	RSPH3	159340633	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-2.939000	0.00684	-2.697000	0.00400	-0.468000	0.05107	ACC	RSPH3	-	NULL	ENSG00000130363		0.642	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH3	HGNC	protein_coding		135	0.00	0	T	NM_031924		159420645	159420645	-1	no_errors	ENST00000252655	ensembl	human	known	69_37n	missense	117	14.49	20	SNP	0.000	G
RXRA	6256	genome.wustl.edu	37	9	137328499	137328499	+	3'UTR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:137328499A>C	ENST00000481739.1	+	0	1480				RXRA_ENST00000540193.1_3'UTR|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha						camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CGTTCTGGCCACCCTGCCTGG	0.617																																						dbGAP											0													41.0	39.0	40.0					9																	137328499		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.*39A>C	9.37:g.137328499A>C			B3KY83|Q2NL52|Q2V504	RNA	SNP	-	NULL	ENST00000481739.1	37	NULL	CCDS35172.1	9																																																																																			RXRA	-	-	ENSG00000186350		0.617	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRA	HGNC	protein_coding	OTTHUMT00000054949.1	37	0.00	0	A	NM_002957		137328499	137328499	+1	no_errors	ENST00000356384	ensembl	human	known	69_37n	rna	30	35.42	17	SNP	0.001	C
RYR1	6261	genome.wustl.edu	37	19	38959981	38959981	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:38959981T>G	ENST00000359596.3	+	27	3593	c.3593T>G	c.(3592-3594)gTg>gGg	p.V1198G	RYR1_ENST00000355481.4_Missense_Mutation_p.V1198G|RYR1_ENST00000360985.3_Missense_Mutation_p.V1198G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1198	6 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCTGGCCAGGTGGGTCATCTG	0.647																																						dbGAP											0													89.0	87.0	88.0					19																	38959981		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.3593T>G	19.37:g.38959981T>G	ENSP00000352608:p.Val1198Gly		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.V1198G	ENST00000359596.3	37	c.3593	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	t	11.95	1.792124	0.31685	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.69175	-0.38;-0.38;-0.38	3.63	3.63	0.41609	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.53938	U	0.000043	T	0.76111	0.3942	L	0.56396	1.775	0.80722	D	1	P;D	0.64830	0.949;0.994	P;D	0.71870	0.51;0.975	T	0.76680	-0.2870	10	0.48119	T	0.1	.	12.1573	0.54085	0.0:0.0:0.0:1.0	.	1198;1198	P21817-2;P21817	.;RYR1_HUMAN	G	1198	ENSP00000352608:V1198G;ENSP00000347667:V1198G;ENSP00000354254:V1198G	ENSP00000347667:V1198G	V	+	2	0	RYR1	43651821	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.142000	0.50601	1.547000	0.49401	0.357000	0.21978	GTG	RYR1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000196218		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	100	0.99	1	T			38959981	38959981	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	57	21.92	16	SNP	1.000	G
RYR1	6261	genome.wustl.edu	37	19	38973712	38973712	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:38973712A>C	ENST00000359596.3	+	32	4666	c.4666A>C	c.(4666-4668)Acc>Ccc	p.T1556P	RYR1_ENST00000355481.4_Missense_Mutation_p.T1556P|RYR1_ENST00000360985.3_Missense_Mutation_p.T1556P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1556	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGTCCTGCCCACCCACCAGAA	0.592																																						dbGAP											0													187.0	139.0	155.0					19																	38973712		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4666A>C	19.37:g.38973712A>C	ENSP00000352608:p.Thr1556Pro		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.T1556P	ENST00000359596.3	37	c.4666	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159362	0.38119	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.58652	0.32;0.32;0.32	4.07	3.03	0.35002	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.434845	0.20250	U	0.096105	T	0.72708	0.3494	M	0.79011	2.435	0.28313	N	0.9226	D;D	0.71674	0.981;0.998	P;D	0.75020	0.642;0.985	T	0.66152	-0.5995	10	0.87932	D	0	.	9.555	0.39332	0.6573:0.3427:0.0:0.0	.	1556;1556	P21817-2;P21817	.;RYR1_HUMAN	P	1556	ENSP00000352608:T1556P;ENSP00000347667:T1556P;ENSP00000354254:T1556P	ENSP00000347667:T1556P	T	+	1	0	RYR1	43665552	0.471000	0.25862	0.997000	0.53966	0.943000	0.58893	2.138000	0.42140	0.595000	0.29777	0.379000	0.24179	ACC	RYR1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000196218		0.592	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	153	0.65	1	A			38973712	38973712	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	156	13.26	24	SNP	0.985	C
S100A6	6277	genome.wustl.edu	37	1	153507644	153507644	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:153507644T>G	ENST00000368720.2	-	3	441				S100A6_ENST00000368719.4_Intron|S100A6_ENST00000496817.1_Intron|BX470102.3_ENST00000420695.1_RNA			P06703	S10A6_HUMAN	S100 calcium binding protein A6						axonogenesis (GO:0007409)|positive regulation of fibroblast proliferation (GO:0048146)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|ion transmembrane transporter activity (GO:0015075)|protein homodimerization activity (GO:0042803)|S100 protein binding (GO:0044548)|tropomyosin binding (GO:0005523)|zinc ion binding (GO:0008270)			ovary(1)	1	all_lung(78;1.66e-32)|Lung NSC(65;5.71e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGACAAGGGTGGGAAAAGGG	0.562																																						dbGAP											0													64.0	66.0	65.0					1																	153507644		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC001431	CCDS1040.1	1q21	2013-01-10	2006-09-11		ENSG00000197956	ENSG00000197956		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10496	protein-coding gene	gene with protein product		114110	"""S100 calcium-binding protein A6 (calcyclin)"", ""S100 calcium binding protein A6 (calcyclin)"""	CACY			Standard	NM_014624		Approved	2A9, PRA, CABP	uc001fbw.1	P06703	OTTHUMG00000013549	ENST00000368720.2:c.138+33A>C	1.37:g.153507644T>G			D3DV39|Q5RHS4	RNA	SNP	-	NULL	ENST00000368720.2	37	NULL	CCDS1040.1	1																																																																																			S100A6	-	-	ENSG00000197956		0.562	S100A6-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	S100A6	HGNC	protein_coding	OTTHUMT00000037723.2	109	0.00	0	T	NM_014624		153507644	153507644	-1	no_errors	ENST00000462951	ensembl	human	known	69_37n	rna	168	15.15	30	SNP	0.000	G
S100A4	6275	genome.wustl.edu	37	1	153516160	153516160	+	3'UTR	SNP	T	T	G	rs1051044		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:153516160T>G	ENST00000368716.4	-	0	528				S100A4_ENST00000368714.1_3'UTR|S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000368715.1_3'UTR|S100A5_ENST00000359215.1_5'Flank|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000354332.4_3'UTR|S100A5_ENST00000368717.2_5'Flank	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4						epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	GGAGCCAGGGTGGAAAAAAAA	0.522																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.*75A>C	1.37:g.153516160T>G			A8K7R8|D3DV46|Q6ICP8	RNA	SNP	-	NULL	ENST00000368716.4	37	NULL	CCDS1042.1	1																																																																																			S100A4	-	-	ENSG00000196154		0.522	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A4	HGNC	protein_coding	OTTHUMT00000037714.1	57	0.00	0	T	NM_002961		153516160	153516160	-1	no_errors	ENST00000468373	ensembl	human	known	69_37n	rna	77	15.05	14	SNP	0.000	G
S100A2	6273	genome.wustl.edu	37	1	153534000	153534000	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:153534000A>C	ENST00000368708.3	-	3	581	c.209T>G	c.(208-210)gTg>gGg	p.V70G	S100A2_ENST00000497140.1_Missense_Mutation_p.V37G|S100A2_ENST00000487430.2_Missense_Mutation_p.V70G|S100A2_ENST00000368710.1_Missense_Mutation_p.V70G|S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000368709.1_Missense_Mutation_p.V70G	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	71	EF-hand 2. {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)	CTGGAAGTCCACCTGCTGGTC	0.522																																						dbGAP											0													239.0	225.0	230.0					1																	153534000		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.209T>G	1.37:g.153534000A>C	ENSP00000357697:p.Val70Gly		O00266|Q3KRB9|Q5RHS8|Q9BU83	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.V111G	ENST00000368708.3	37	c.332	CCDS1044.1	1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.640857	0.67244	.	.	ENSG00000196754	ENST00000368708;ENST00000368710;ENST00000368709;ENST00000368707	T;T;T	0.19806	2.12;2.12;2.12	5.2	4.05	0.47172	S100/Calbindin-D9k, conserved site (1);EF-hand-like domain (1);	0.182827	0.34879	N	0.003617	T	0.28234	0.0697	.	.	.	0.58432	D	0.999998	D	0.64830	0.994	P	0.61070	0.883	T	0.08330	-1.0727	9	0.87932	D	0	.	9.45	0.38721	0.8217:0.1783:0.0:0.0	.	71	P29034	S10A2_HUMAN	G	70;70;70;111	ENSP00000357697:V70G;ENSP00000357699:V70G;ENSP00000357698:V70G	ENSP00000357696:V111G	V	-	2	0	S100A2	151800624	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	4.911000	0.63328	0.886000	0.36113	0.533000	0.62120	GTG	S100A2	-	pfscan_EF_HAND_2	ENSG00000196754		0.522	S100A2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	S100A2	HGNC	protein_coding	OTTHUMT00000084789.1	188	0.53	1	A	NM_005978		153534000	153534000	-1	no_errors	ENST00000368707	ensembl	human	known	69_37n	missense	216	12.40	31	SNP	1.000	C
SALL4	57167	genome.wustl.edu	37	20	50400977	50400977	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:50400977T>G	ENST00000217086.4	-	4	3100	c.2989A>C	c.(2989-2991)Acc>Ccc	p.T997P	SALL4_ENST00000371539.3_Missense_Mutation_p.T220P|SALL4_ENST00000395997.3_Missense_Mutation_p.T560P	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	997					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCGGGAGGGTAGGAACCCCC	0.562																																						dbGAP											0													71.0	68.0	69.0					20																	50400977		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2989A>C	20.37:g.50400977T>G	ENSP00000217086:p.Thr997Pro		A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T997P	ENST00000217086.4	37	c.2989	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	T	10.76	1.440064	0.25900	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.35236	1.32;1.32;1.32	4.68	-2.25	0.06888	.	0.328190	0.22316	N	0.061677	T	0.37652	0.1011	L	0.41573	1.285	0.09310	N	0.999998	B;D;D	0.76494	0.0;0.998;0.999	B;P;D	0.78314	0.001;0.897;0.991	T	0.22138	-1.0225	10	0.48119	T	0.1	-18.0469	1.4733	0.02421	0.215:0.3246:0.1094:0.351	.	560;220;997	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	P	997;560;220	ENSP00000217086:T997P;ENSP00000379319:T560P;ENSP00000360594:T220P	ENSP00000217086:T997P	T	-	1	0	SALL4	49834384	0.000000	0.05858	0.015000	0.15790	0.185000	0.23345	-0.732000	0.04904	-0.352000	0.08237	0.454000	0.30748	ACC	SALL4	-	NULL	ENSG00000101115		0.562	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	128	0.00	0	T			50400977	50400977	-1	no_errors	ENST00000217086	ensembl	human	known	69_37n	missense	90	13.33	14	SNP	0.001	G
SAP130	79595	genome.wustl.edu	37	2	128757654	128757654	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:128757654T>G	ENST00000259235.3	-	9	1291	c.1162A>C	c.(1162-1164)Acc>Ccc	p.T388P	SAP130_ENST00000259234.6_Missense_Mutation_p.T362P|SAP130_ENST00000357702.5_Missense_Mutation_p.T388P	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	388					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GAAGGAATGGTGTTGGTTGCC	0.478																																						dbGAP											0													150.0	148.0	149.0					2																	128757654		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1162A>C	2.37:g.128757654T>G	ENSP00000259235:p.Thr388Pro		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.T388P	ENST00000259235.3	37	c.1162	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	T	19.65	3.868153	0.72065	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.58	5.58	0.84498	.	0.045227	0.85682	D	0.000000	T	0.62073	0.2398	L	0.27053	0.805	0.80722	D	1	D;D;D;P	0.67145	0.996;0.963;0.963;0.911	P;P;P;P	0.62184	0.899;0.714;0.714;0.507	T	0.61955	-0.6956	9	0.37606	T	0.19	-23.2826	15.7616	0.78087	0.0:0.0:0.0:1.0	.	388;361;388;26	B7ZLM3;Q96DP1;Q9H0E3;B3KRT9	.;.;SP130_HUMAN;.	P	388;388;362	.	ENSP00000259234:T362P	T	-	1	0	SAP130	128474124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.329000	0.79170	2.121000	0.65114	0.533000	0.62120	ACC	SAP130	-	NULL	ENSG00000136715		0.478	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	348	0.29	1	T	NM_024545		128757654	128757654	-1	no_errors	ENST00000357702	ensembl	human	known	69_37n	missense	253	11.23	32	SNP	1.000	G
SAP130	79595	genome.wustl.edu	37	2	128774074	128774074	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:128774074T>G	ENST00000259235.3	-	4	603	c.474A>C	c.(472-474)ccA>ccC	p.P158P	SAP130_ENST00000259234.6_Silent_p.P132P|SAP130_ENST00000357702.5_Silent_p.P158P	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	158	Pro-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGGTAGAAGGTGGAGCAGGAG	0.542																																						dbGAP											0													104.0	102.0	103.0					2																	128774074		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.474A>C	2.37:g.128774074T>G			B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Silent	SNP	NULL	p.P158	ENST00000259235.3	37	c.474	CCDS2153.1	2																																																																																			SAP130	-	NULL	ENSG00000136715		0.542	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	199	0.00	0	T	NM_024545		128774074	128774074	-1	no_errors	ENST00000357702	ensembl	human	known	69_37n	silent	140	12.96	21	SNP	1.000	G
SASH3	54440	genome.wustl.edu	37	X	128926673	128926673	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:128926673T>G	ENST00000356892.3	+	6	776	c.662T>G	c.(661-663)gTg>gGg	p.V221G	RP4-753P9.3_ENST00000432513.1_RNA	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	221	SH3.				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						AATGGCAAGGTGGGCTCTTTC	0.597																																						dbGAP											0													103.0	99.0	101.0					X																	128926673		2203	4300	6503	-	-	-	SO:0001583	missense	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.662T>G	X.37:g.128926673T>G	ENSP00000349359:p.Val221Gly		A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.V221G	ENST00000356892.3	37	c.662	CCDS14614.1	X	.	.	.	.	.	.	.	.	.	.	T	17.91	3.504835	0.64410	.	.	ENSG00000122122	ENST00000443760;ENST00000356892	T	0.10573	2.86	5.47	5.47	0.80525	Src homology-3 domain (2);Variant SH3 (1);	0.379537	0.29300	N	0.012541	T	0.27027	0.0662	M	0.93854	3.465	0.80722	D	1	B;B	0.31009	0.303;0.153	B;B	0.34038	0.091;0.174	T	0.13124	-1.0521	10	0.72032	D	0.01	-22.7033	14.3304	0.66553	0.0:0.0:0.0:1.0	.	239;221	B4DKQ0;O75995	.;SASH3_HUMAN	G	239;221	ENSP00000349359:V221G	ENSP00000349359:V221G	V	+	2	0	SASH3	128754354	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.260000	0.72502	1.843000	0.53566	0.430000	0.28490	GTG	SASH3	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	ENSG00000122122		0.597	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH3	HGNC	protein_coding	OTTHUMT00000058208.1	146	0.68	1	T	NM_018990		128926673	128926673	+1	no_errors	ENST00000356892	ensembl	human	known	69_37n	missense	166	11.98	23	SNP	1.000	G
SATB1	6304	genome.wustl.edu	37	3	18427909	18427909	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:18427909T>G	ENST00000338745.6	-	8	3135	c.1401A>C	c.(1399-1401)ccA>ccC	p.P467P	SATB1_ENST00000454909.2_Silent_p.P467P|SATB1_ENST00000417717.2_Silent_p.P467P|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	467					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GACGGCTGGGTGGTGTGCTGA	0.498																																						dbGAP											0													152.0	165.0	161.0					3																	18427909		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1401A>C	3.37:g.18427909T>G			B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.P467	ENST00000338745.6	37	c.1401	CCDS2631.1	3																																																																																			SATB1	-	NULL	ENSG00000182568		0.498	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	HGNC	protein_coding	OTTHUMT00000252138.4	244	0.79	2	T	NM_001131010		18427909	18427909	-1	no_errors	ENST00000338745	ensembl	human	known	69_37n	silent	145	20.33	37	SNP	0.001	G
SCAMP5	192683	genome.wustl.edu	37	15	75304189	75304189	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:75304189T>G	ENST00000361900.6	+	3	214		c.e3+2		SCAMP5_ENST00000565923.1_Splice_Site|SCAMP5_ENST00000562212.1_Splice_Site|SCAMP5_ENST00000425597.3_Splice_Site|SCAMP5_ENST00000545456.1_Splice_Site	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5						exocytosis (GO:0006887)|negative regulation of endocytosis (GO:0045806)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of cytokine secretion (GO:0050715)|protein transport (GO:0015031)|response to endoplasmic reticulum stress (GO:0034976)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)|trans-Golgi network membrane (GO:0032588)				large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TCATGGCAGGTAAGGAGAGGG	0.562																																						dbGAP											0													96.0	110.0	105.0					15																	75304189		2078	4211	6289	-	-	-	SO:0001630	splice_region_variant	0			AL833230	CCDS45306.1	15q24.2	2014-05-20			ENSG00000198794	ENSG00000198794		"""Secretory carrier membrane proteins"""	30386	protein-coding gene	gene with protein product		613766				12477932	Standard	NM_001178111		Approved	MGC24969	uc002azk.2	Q8TAC9	OTTHUMG00000172704	ENST00000361900.6:c.7+2T>G	15.37:g.75304189T>G			B3KPJ7|B7Z762|D3DW71|Q8N3M4	Splice_Site	SNP	-	e1+2	ENST00000361900.6	37	c.7+2	CCDS45306.1	15	.	.	.	.	.	.	.	.	.	.	T	10.52	1.373670	0.24857	.	.	ENSG00000198794	ENST00000361900;ENST00000425597	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3278	0.49458	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SCAMP5	73091242	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	3.422000	0.52749	1.995000	0.58328	0.374000	0.22700	.	SCAMP5	-	-	ENSG00000198794		0.562	SCAMP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAMP5	HGNC	protein_coding	OTTHUMT00000420015.2	360	0.82	3	T	NM_138967	Intron	75304189	75304189	+1	no_errors	ENST00000562212	ensembl	human	known	69_37n	splice_site	285	19.44	69	SNP	1.000	G
SCEL	8796	genome.wustl.edu	37	13	78143537	78143537	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:78143537T>C	ENST00000349847.3	+	8	514	c.430T>C	c.(430-432)Tcc>Ccc	p.S144P	SCEL_ENST00000535157.1_Missense_Mutation_p.S144P|SCEL_ENST00000377246.3_Missense_Mutation_p.S144P	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	144					embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGCCAACACCTCCAACACCAT	0.418																																						dbGAP											0													138.0	124.0	129.0					13																	78143537		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.430T>C	13.37:g.78143537T>C	ENSP00000302579:p.Ser144Pro		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	smart_Znf_LIM,pfscan_Znf_LIM	p.S144P	ENST00000349847.3	37	c.430	CCDS9459.1	13	.	.	.	.	.	.	.	.	.	.	T	12.64	1.998470	0.35226	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.24538	1.85;1.85;1.85	5.2	-0.622	0.11560	.	0.484707	0.19245	N	0.119069	T	0.12347	0.0300	N	0.22421	0.69	0.09310	N	1	P;P;P	0.37864	0.61;0.61;0.61	B;B;B	0.35353	0.201;0.201;0.201	T	0.13388	-1.0511	10	0.59425	D	0.04	-0.4501	3.0168	0.06063	0.4549:0.0:0.1913:0.3538	.	144;144;144	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	P	121;144;144;144	ENSP00000437895:S144P;ENSP00000366454:S144P;ENSP00000302579:S144P	ENSP00000315127:S121P	S	+	1	0	SCEL	77041538	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.739000	0.04866	-0.140000	0.11394	-0.340000	0.08031	TCC	SCEL	-	NULL	ENSG00000136155		0.418	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCEL	HGNC	protein_coding	OTTHUMT00000045339.2	148	0.00	0	T	NM_144777		78143537	78143537	+1	no_errors	ENST00000349847	ensembl	human	known	69_37n	missense	149	10.78	18	SNP	0.001	C
SCFD2	152579	genome.wustl.edu	37	4	54231506	54231506	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:54231506A>C	ENST00000401642.3	-	1	736	c.603T>G	c.(601-603)ggT>ggG	p.G201G	SCFD2_ENST00000388940.4_Silent_p.G201G	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	201					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTCCACATCACCCAGGCTTC	0.557																																						dbGAP											0													76.0	69.0	71.0					4																	54231506		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.603T>G	4.37:g.54231506A>C			Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.G201	ENST00000401642.3	37	c.603	CCDS33984.1	4																																																																																			SCFD2	-	NULL	ENSG00000184178		0.557	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD2	HGNC	protein_coding	OTTHUMT00000361311.3	122	0.00	0	A	NM_152540		54231506	54231506	-1	no_errors	ENST00000401642	ensembl	human	known	69_37n	silent	79	17.71	17	SNP	0.123	C
SCGB1C1	147199	genome.wustl.edu	37	11	193136	193136	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:193136A>C	ENST00000342878.2	+	1	57	c.37A>C	c.(37-39)Acc>Ccc	p.T13P	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	13						extracellular region (GO:0005576)				endometrium(1)|liver(2)|lung(1)|skin(1)	5		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;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGTGGCCCTCACCCTGTTCTG	0.607																																						dbGAP											0													70.0	82.0	78.0					11																	193136		2128	4251	6379	-	-	-	SO:0001583	missense	0			AY026938	CCDS41581.1	11p15.5	2011-12-14			ENSG00000188076	ENSG00000188076		"""Secretoglobins"""	18394	protein-coding gene	gene with protein product		610176				22155607	Standard	NM_145651		Approved	RYD5	uc001loa.1	Q8TD33	OTTHUMG00000165539	ENST00000342878.2:c.37A>C	11.37:g.193136A>C	ENSP00000344545:p.Thr13Pro		A8MSI9|Q14DW0	Missense_Mutation	SNP	pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin	p.T13P	ENST00000342878.2	37	c.37	CCDS41581.1	11	.	.	.	.	.	.	.	.	.	.	.	1.657	-0.512509	0.04200	.	.	ENSG00000188076	ENST00000342878	T	0.25414	1.8	3.81	-1.71	0.08133	.	0.789825	0.11238	N	0.584911	T	0.13157	0.0319	.	.	.	0.09310	N	1	P	0.37864	0.61	B	0.30029	0.11	T	0.13845	-1.0494	9	0.59425	D	0.04	-5.3689	3.4249	0.07406	0.4266:0.0:0.3844:0.189	.	13	Q8TD33	SG1C1_HUMAN	P	13	ENSP00000344545:T13P	ENSP00000344545:T13P	T	+	1	0	SCGB1C1	183136	0.000000	0.05858	0.004000	0.12327	0.100000	0.18952	-0.172000	0.09868	-0.313000	0.08728	0.418000	0.28097	ACC	SCGB1C1	-	pfam_Uteroglobin-like_superfam	ENSG00000188076		0.607	SCGB1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGB1C1	HGNC	protein_coding	OTTHUMT00000384759.1	121	0.00	0	A	NM_145651		193136	193136	+1	no_errors	ENST00000342878	ensembl	human	known	69_37n	missense	108	15.50	20	SNP	0.004	C
SCML2	10389	genome.wustl.edu	37	X	18276274	18276274	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:18276274A>C	ENST00000251900.4	-	10	1322	c.1163T>G	c.(1162-1164)gTg>gGg	p.V388G	SCML2_ENST00000398048.3_Missense_Mutation_p.V124G	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	388					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CACCACATTCACCGGGCCCGG	0.507																																					Esophageal Squamous(100;1252 1965 19021 35517)	dbGAP											0													103.0	97.0	99.0					X																	18276274		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1163T>G	X.37:g.18276274A>C	ENSP00000251900:p.Val388Gly		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.V388G	ENST00000251900.4	37	c.1163	CCDS14185.1	X	.	.	.	.	.	.	.	.	.	.	A	12.75	2.033050	0.35893	.	.	ENSG00000102098	ENST00000251900;ENST00000398048;ENST00000442000	T;T	0.48522	0.81;0.81	5.35	4.16	0.48862	.	0.192435	0.45606	D	0.000345	T	0.65626	0.2709	M	0.82517	2.595	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.72982	0.977;0.979;0.977	T	0.66056	-0.6018	10	0.87932	D	0	.	5.8103	0.18462	0.7702:0.0:0.0788:0.151	.	356;124;388	B4DZR9;B4DRC2;Q9UQR0	.;.;SCML2_HUMAN	G	388;124;356	ENSP00000251900:V388G;ENSP00000381126:V124G	ENSP00000251900:V388G	V	-	2	0	SCML2	18186195	1.000000	0.71417	0.364000	0.25888	0.005000	0.04900	7.076000	0.76806	0.751000	0.32900	-0.409000	0.06214	GTG	SCML2	-	pfam_DUF3588	ENSG00000102098		0.507	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	HGNC	protein_coding	OTTHUMT00000055941.1	169	0.59	1	A	NM_006089		18276274	18276274	-1	no_errors	ENST00000251900	ensembl	human	known	69_37n	missense	146	15.91	28	SNP	0.978	C
SCML2	10389	genome.wustl.edu	37	X	18323137	18323137	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:18323137A>C	ENST00000251900.4	-	7	844	c.685T>G	c.(685-687)Tgg>Ggg	p.W229G		NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	229					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AGGCGACACCACCCAGCTGGG	0.393																																					Esophageal Squamous(100;1252 1965 19021 35517)	dbGAP											0													170.0	162.0	165.0					X																	18323137		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.685T>G	X.37:g.18323137A>C	ENSP00000251900:p.Trp229Gly		Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Missense_Mutation	SNP	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt	p.W229G	ENST00000251900.4	37	c.685	CCDS14185.1	X	.	.	.	.	.	.	.	.	.	.	a	18.97	3.735749	0.69189	.	.	ENSG00000102098	ENST00000251900;ENST00000442000	T	0.48201	0.82	5.59	5.59	0.84812	.	0.112267	0.64402	D	0.000003	T	0.80454	0.4626	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87864	0.2666	10	0.87932	D	0	.	14.9643	0.71179	1.0:0.0:0.0:0.0	.	197;229	B4DZR9;Q9UQR0	.;SCML2_HUMAN	G	229;197	ENSP00000251900:W229G	ENSP00000251900:W229G	W	-	1	0	SCML2	18233058	1.000000	0.71417	0.999000	0.59377	0.697000	0.40408	8.804000	0.91921	1.984000	0.57885	0.414000	0.27820	TGG	SCML2	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000102098		0.393	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCML2	HGNC	protein_coding	OTTHUMT00000055941.1	117	0.00	0	A	NM_006089		18323137	18323137	-1	no_errors	ENST00000251900	ensembl	human	known	69_37n	missense	142	10.62	17	SNP	1.000	C
SCN5A	6331	genome.wustl.edu	37	3	38592119	38592119	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:38592119T>G	ENST00000333535.4	-	28	5893	c.5744A>C	c.(5743-5745)cAc>cCc	p.H1915P	SCN5A_ENST00000449557.2_Missense_Mutation_p.H1861P|SCN5A_ENST00000451551.2_Missense_Mutation_p.H1861P|SCN5A_ENST00000423572.2_Missense_Mutation_p.H1914P|SCN5A_ENST00000413689.1_Missense_Mutation_p.H1915P|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000455624.2_Missense_Mutation_p.H1882P|SCN5A_ENST00000414099.2_Missense_Mutation_p.H1897P|SCN5A_ENST00000425664.1_Missense_Mutation_p.H1897P|SCN5A_ENST00000443581.1_Missense_Mutation_p.H1914P|SCN5A_ENST00000450102.2_Missense_Mutation_p.H1861P			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1915	IQ.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	TTGCAGCAGGTGCCTGCGGAA	0.622																																						dbGAP											0													111.0	122.0	119.0					3																	38592119		2126	4211	6337	-	-	-	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5744A>C	3.37:g.38592119T>G	ENSP00000328968:p.His1915Pro		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.H1915P	ENST00000333535.4	37	c.5744	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	T	19.37	3.815494	0.70912	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96200	-3.86;-3.89;-3.89;-3.94;-3.89;-3.86;-3.89;-3.92;-3.94;-3.94	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.97942	0.9323	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.998;0.994;0.999;0.997;0.999	P;D;D;D;D;D	0.78314	0.885;0.991;0.92;0.959;0.968;0.959	D	0.98988	1.0807	10	0.87932	D	0	.	14.6048	0.68469	0.0:0.0:0.0:1.0	.	1861;1882;1897;1915;1914;1915	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	P	1897;1914;1915;1861;1914;1897;1915;1882;1861;1861	ENSP00000398962:H1897P;ENSP00000398266:H1914P;ENSP00000410257:H1915P;ENSP00000388797:H1861P;ENSP00000397915:H1914P;ENSP00000416634:H1897P;ENSP00000328968:H1915P;ENSP00000399524:H1882P;ENSP00000403355:H1861P;ENSP00000413996:H1861P	ENSP00000328968:H1915P	H	-	2	0	SCN5A	38567123	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.017000	0.64047	2.042000	0.60477	0.482000	0.46254	CAC	SCN5A	-	NULL	ENSG00000183873		0.622	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	230	0.85	2	T	NM_198056		38592119	38592119	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	missense	171	11.73	23	SNP	1.000	G
SCN5A	6331	genome.wustl.edu	37	3	38592335	38592335	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:38592335A>C	ENST00000333535.4	-	28	5677	c.5528T>G	c.(5527-5529)gTg>gGg	p.V1843G	SCN5A_ENST00000449557.2_Missense_Mutation_p.V1789G|SCN5A_ENST00000451551.2_Missense_Mutation_p.V1789G|SCN5A_ENST00000423572.2_Missense_Mutation_p.V1842G|SCN5A_ENST00000413689.1_Missense_Mutation_p.V1843G|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000455624.2_Missense_Mutation_p.V1810G|SCN5A_ENST00000414099.2_Missense_Mutation_p.V1825G|SCN5A_ENST00000425664.1_Missense_Mutation_p.V1825G|SCN5A_ENST00000443581.1_Missense_Mutation_p.V1842G|SCN5A_ENST00000450102.2_Missense_Mutation_p.V1789G			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1843	Interaction with FGF13.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCCCCACTCACCATGGGCAG	0.562																																						dbGAP											0													98.0	106.0	103.0					3																	38592335		2123	4232	6355	-	-	-	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5528T>G	3.37:g.38592335A>C	ENSP00000328968:p.Val1843Gly		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.V1843G	ENST00000333535.4	37	c.5528	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	A	19.07	3.756851	0.69648	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.96300	-3.86;-3.88;-3.88;-3.97;-3.88;-3.86;-3.88;-3.96;-3.97;-3.97	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.92738	3.34	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0	D;D;D;D;D;D	0.91635	0.999;0.992;0.999;0.991;0.997;0.996	D	0.99651	1.0991	10	0.87932	D	0	.	14.5421	0.68002	1.0:0.0:0.0:0.0	.	1789;1810;1825;1843;1842;1843	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	G	1825;1842;1843;1789;1842;1825;1843;1810;1789;1789	ENSP00000398962:V1825G;ENSP00000398266:V1842G;ENSP00000410257:V1843G;ENSP00000388797:V1789G;ENSP00000397915:V1842G;ENSP00000416634:V1825G;ENSP00000328968:V1843G;ENSP00000399524:V1810G;ENSP00000403355:V1789G;ENSP00000413996:V1789G	ENSP00000328968:V1843G	V	-	2	0	SCN5A	38567339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.133000	0.94460	2.025000	0.59659	0.460000	0.39030	GTG	SCN5A	-	NULL	ENSG00000183873		0.562	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	184	0.00	0	A	NM_198056		38592335	38592335	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	missense	135	13.92	22	SNP	1.000	C
SCN5A	6331	genome.wustl.edu	37	3	38645502	38645502	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:38645502T>G	ENST00000333535.4	-	12	1740	c.1591A>C	c.(1591-1593)Acc>Ccc	p.T531P	SCN5A_ENST00000449557.2_Missense_Mutation_p.T531P|SCN5A_ENST00000451551.2_Missense_Mutation_p.T531P|SCN5A_ENST00000423572.2_Missense_Mutation_p.T531P|SCN5A_ENST00000413689.1_Missense_Mutation_p.T531P|SCN5A_ENST00000455624.2_Missense_Mutation_p.T531P|SCN5A_ENST00000414099.2_Missense_Mutation_p.T531P|SCN5A_ENST00000425664.1_Missense_Mutation_p.T531P|SCN5A_ENST00000443581.1_Missense_Mutation_p.T531P|SCN5A_ENST00000450102.2_Missense_Mutation_p.T531P			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	531					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGCGAAAGGTGAAAATGCTC	0.572																																						dbGAP											0													36.0	38.0	38.0					3																	38645502		2052	4199	6251	-	-	-	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1591A>C	3.37:g.38645502T>G	ENSP00000328968:p.Thr531Pro		A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.T531P	ENST00000333535.4	37	c.1591	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	T	20.1	3.939913	0.73557	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17;-3.17	4.33	3.17	0.36434	Domain of unknown function DUF3451 (1);	0.835150	0.10725	N	0.641249	D	0.95172	0.8435	M	0.64997	1.995	0.37829	D	0.928644	B;D;B;B;D;D;D	0.76494	0.299;0.984;0.145;0.144;0.998;0.985;0.999	B;P;B;B;D;P;D	0.64776	0.214;0.825;0.122;0.214;0.915;0.809;0.929	D	0.92439	0.5960	10	0.62326	D	0.03	.	9.7402	0.40413	0.0:0.0826:0.0:0.9174	.	531;531;531;531;531;531;531	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	P	531	ENSP00000398962:T531P;ENSP00000398266:T531P;ENSP00000410257:T531P;ENSP00000388797:T531P;ENSP00000397915:T531P;ENSP00000416634:T531P;ENSP00000328968:T531P;ENSP00000399524:T531P;ENSP00000403355:T531P;ENSP00000413996:T531P	ENSP00000328968:T531P	T	-	1	0	SCN5A	38620506	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.010000	0.64004	0.701000	0.31803	0.459000	0.35465	ACC	SCN5A	-	pfam_DUF3451	ENSG00000183873		0.572	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	59	0.00	0	T	NM_198056		38645502	38645502	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	missense	71	17.44	15	SNP	1.000	G
SCP2	6342	genome.wustl.edu	37	1	53504674	53504674	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:53504674T>G	ENST00000528311.1	+	13	1477	c.1181T>G	c.(1180-1182)gTg>gGg	p.V394G	SCP2_ENST00000430330.2_Missense_Mutation_p.V68G|SCP2_ENST00000407246.2_Missense_Mutation_p.V451G|SCP2_ENST00000371509.4_Missense_Mutation_p.V431G|SCP2_ENST00000408941.3_Intron|SCP2_ENST00000488965.1_Intron|SCP2_ENST00000435345.2_Missense_Mutation_p.V71G|SCP2_ENST00000371514.3_Missense_Mutation_p.V475G	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	717					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GCCACCTGGGTGGTGGATGTG	0.463																																						dbGAP											0													148.0	153.0	151.0					1																	53504674		2203	4300	6503	-	-	-	SO:0001583	missense	0			M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1181T>G	1.37:g.53504674T>G	ENSP00000434132:p.Val394Gly		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_Thiolase_C,pfam_Thiolase_N,superfamily_Thiolase-like,superfamily_SCP2_sterol-bd_dom	p.V475G	ENST00000528311.1	37	c.1424	CCDS53319.1	1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.474099	0.84640	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000435345	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.21	5.21	0.72293	SCP2 sterol-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	M	0.85777	2.775	0.80722	D	1	D;B;D;B;D	0.65815	0.96;0.321;0.995;0.274;0.995	P;P;D;D;D	0.91635	0.782;0.906;0.999;0.922;0.998	T	0.63116	-0.6709	10	0.87932	D	0	-16.3449	14.0558	0.64767	0.0:0.0:0.0:1.0	.	71;451;431;68;475	B4E0J3;C9JC79;A6NM69;E1B6W5;P22307	.;.;.;.;NLTP_HUMAN	G	475;394;431;451;68;71	ENSP00000360569:V475G;ENSP00000434132:V394G;ENSP00000360564:V431G;ENSP00000384569:V451G;ENSP00000406636:V68G;ENSP00000396413:V71G	ENSP00000360564:V431G	V	+	2	0	SCP2	53277262	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.241000	0.65384	1.982000	0.57802	0.454000	0.30748	GTG	SCP2	-	pfam_SCP2_sterol-bd_dom,superfamily_SCP2_sterol-bd_dom	ENSG00000116171		0.463	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	SCP2	HGNC	protein_coding	OTTHUMT00000387558.1	282	0.70	2	T	NM_002979		53504674	53504674	+1	no_errors	ENST00000371514	ensembl	human	known	69_37n	missense	156	12.36	22	SNP	1.000	G
SCNM1	79005	genome.wustl.edu	37	1	151140804	151140804	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:151140804A>C	ENST00000368905.4	+	6	694	c.583A>C	c.(583-585)Acc>Ccc	p.T195P	LYSMD1_ENST00000368908.5_5'Flank|LYSMD1_ENST00000440902.2_5'Flank	NM_001204856.1|NM_024041.3	NP_001191785.1|NP_076946.1	Q9BWG6	SCNM1_HUMAN	sodium channel modifier 1	195	Required for interaction with LUC7L2. {ECO:0000250}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCATTATCTCACCCTTCGAAG	0.488																																						dbGAP											0													99.0	97.0	98.0					1																	151140804		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000264	CCDS987.1, CCDS55636.1	1q21.3	2012-03-13			ENSG00000163156	ENSG00000163156			23136	protein-coding gene	gene with protein product		608095				12920299	Standard	NM_024041		Approved	MGC3180	uc001ewz.3	Q9BWG6	OTTHUMG00000012258	ENST00000368905.4:c.583A>C	1.37:g.151140804A>C	ENSP00000357901:p.Thr195Pro		B4DWR1|Q5JR74	Missense_Mutation	SNP	NULL	p.T195P	ENST00000368905.4	37	c.583	CCDS987.1	1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.262561	0.39995	.	.	ENSG00000163156	ENST00000368905;ENST00000368902	.	.	.	5.5	3.15	0.36227	.	0.497241	0.21303	N	0.076764	T	0.11067	0.0270	L	0.36672	1.1	0.22389	N	0.999146	P	0.39624	0.681	B	0.38056	0.264	T	0.08452	-1.0721	9	0.48119	T	0.1	-15.208	5.4083	0.16335	0.7349:0.1765:0.0885:0.0	.	195	Q9BWG6	SCNM1_HUMAN	P	195;160	.	ENSP00000357898:T160P	T	+	1	0	SCNM1	149407428	0.030000	0.19436	0.865000	0.33974	0.727000	0.41649	1.023000	0.30065	0.492000	0.27815	0.533000	0.62120	ACC	SCNM1	-	NULL	ENSG00000163156		0.488	SCNM1-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	SCNM1	HGNC	protein_coding	OTTHUMT00000034064.2	250	0.40	1	A	NM_024041		151140804	151140804	+1	no_errors	ENST00000368905	ensembl	human	known	69_37n	missense	253	13.56	40	SNP	0.731	C
SCRIB	23513	genome.wustl.edu	37	8	144893213	144893213	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:144893213T>G	ENST00000320476.3	-	11	1142	c.1136A>C	c.(1135-1137)cAc>cCc	p.H379P	SCRIB_ENST00000377533.3_Missense_Mutation_p.H298P|MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.H379P	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	379	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GAGATTGAGGTGGGTGAGCGC	0.687																																					Pancreas(51;966 1133 10533 14576 29674)	dbGAP											0													23.0	25.0	24.0					8																	144893213		2202	4298	6500	-	-	-	SO:0001583	missense	0			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1136A>C	8.37:g.144893213T>G	ENSP00000322938:p.His379Pro		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.H379P	ENST00000320476.3	37	c.1136	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	T	12.16	1.853200	0.32699	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.76186	-1.0;-1.0;1.92	4.34	1.62	0.23740	.	.	.	.	.	T	0.66538	0.2799	L	0.33710	1.025	0.35851	D	0.826761	P;D	0.53312	0.949;0.959	B;P	0.46758	0.39;0.526	T	0.72462	-0.4286	9	0.72032	D	0.01	.	10.1285	0.42665	0.0:0.0:0.3209:0.6791	.	379;379	Q14160;Q14160-3	SCRIB_HUMAN;.	P	379;379;298	ENSP00000349486:H379P;ENSP00000322938:H379P;ENSP00000366756:H298P	ENSP00000322938:H379P	H	-	2	0	SCRIB	144965201	1.000000	0.71417	0.964000	0.40570	0.001000	0.01503	5.773000	0.68898	0.607000	0.29982	-0.460000	0.05396	CAC	SCRIB	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000180900		0.687	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	44	0.00	0	T	NM_015356		144893213	144893213	-1	no_errors	ENST00000320476	ensembl	human	known	69_37n	missense	48	11.11	6	SNP	1.000	G
SCUBE2	57758	genome.wustl.edu	37	11	9087458	9087458	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:9087458A>C	ENST00000309263.3	-	7	902	c.830T>G	c.(829-831)gTg>gGg	p.V277G	RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000457346.2_Missense_Mutation_p.V277G|SCUBE2_ENST00000450649.2_Missense_Mutation_p.V277G|SCUBE2_ENST00000520467.1_Missense_Mutation_p.V277G			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	277						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)		CCGCCGTTTCACCCGTTTATC	0.527																																						dbGAP											0													203.0	146.0	165.0					11																	9087458		2201	4296	6497	-	-	-	SO:0001583	missense	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.830T>G	11.37:g.9087458A>C	ENSP00000310658:p.Val277Gly		Q2NKQ8|Q6ZWI1	Missense_Mutation	SNP	pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.V277G	ENST00000309263.3	37	c.830		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.56|19.56	3.849809|3.849809	0.71603|0.71603	.|.	.|.	ENSG00000175356|ENSG00000175356	ENST00000457346;ENST00000309263;ENST00000450649;ENST00000520467|ENST00000519788;ENST00000531429	D;D;D;D|.	0.87887|.	-2.31;-2.31;-2.31;-2.31|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.46288|.	0.1385|.	N|N	0.11673|0.11673	0.155|0.155	0.80722|0.80722	D|D	1|1	D;B;P|.	0.89917|.	1.0;0.23;0.923|.	D;B;P|.	0.75484|.	0.986;0.076;0.739|.	T|.	0.44802|.	-0.9304|.	10|.	0.34782|.	T|.	0.22|.	.|.	15.8729|15.8729	0.79136|0.79136	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	277;277;277|.	Q9NQ36-3;Q9NQ36-2;Q9NQ36|.	.;.;SCUB2_HUMAN|.	G|G	277|1;42	ENSP00000390481:V277G;ENSP00000310658:V277G;ENSP00000415187:V277G;ENSP00000429969:V277G|.	ENSP00000310658:V277G|.	V|X	-|-	2|1	0|0	SCUBE2|SCUBE2	9044034|9044034	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	7.292000|7.292000	0.78731|0.78731	2.155000|2.155000	0.67459|0.67459	0.533000|0.533000	0.62120|0.62120	GTG|TGA	SCUBE2	-	NULL	ENSG00000175356		0.527	SCUBE2-005	KNOWN	basic|appris_candidate	protein_coding	SCUBE2	HGNC	protein_coding	OTTHUMT00000385812.2	163	0.60	1	A	NM_020974		9087458	9087458	-1	no_errors	ENST00000457346	ensembl	human	known	69_37n	missense	126	13.70	20	SNP	1.000	C
SDK1	221935	genome.wustl.edu	37	7	4150296	4150296	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:4150296T>G	ENST00000404826.2	+	23	3465	c.3326T>G	c.(3325-3327)gTg>gGg	p.V1109G	SDK1_ENST00000389531.3_Splice_Site_p.V1109G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1109	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCTGCACAGGTGGGAGCTATC	0.582																																						dbGAP											0													123.0	96.0	105.0					7																	4150296		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.3325-1T>G	7.37:g.4150296T>G			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.V1109G	ENST00000404826.2	37	c.3326	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	T	15.98	2.992471	0.54041	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.53206	0.63;0.63	5.51	5.51	0.81932	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.090299	0.43416	D	0.000572	T	0.71710	0.3372	M	0.85630	2.765	0.80722	D	1	D;D	0.64830	0.987;0.994	D;D	0.71414	0.966;0.973	T	0.77349	-0.2621	10	0.87932	D	0	.	15.6342	0.76937	0.0:0.0:0.0:1.0	.	1109;1109	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	G	1109	ENSP00000385899:V1109G;ENSP00000374182:V1109G	ENSP00000374182:V1109G	V	+	2	0	SDK1	4116822	1.000000	0.71417	0.979000	0.43373	0.356000	0.29392	7.377000	0.79668	2.077000	0.62373	0.533000	0.62120	GTG	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	186	0.53	1	T	NM_152744	Missense_Mutation	4150296	4150296	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	89	19.82	22	SNP	1.000	G
SDK1	221935	genome.wustl.edu	37	7	4259753	4259753	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:4259753T>G	ENST00000404826.2	+	39	5691	c.5552T>G	c.(5551-5553)gTg>gGg	p.V1851G	SDK1_ENST00000389531.3_Missense_Mutation_p.V1831G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1851	Fibronectin type-III 12. {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)		GTGAGCAAGGTGGTGACCGTG	0.572																																						dbGAP											0													79.0	79.0	79.0					7																	4259753		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.5552T>G	7.37:g.4259753T>G	ENSP00000385899:p.Val1851Gly		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.V1851G	ENST00000404826.2	37	c.5552	CCDS34590.1	7	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273465	0.23221	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.56776	0.44;0.44	5.28	4.11	0.48088	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.183620	0.36972	N	0.002312	T	0.49236	0.1545	L	0.54323	1.7	0.58432	D	0.999998	B;B;B	0.12630	0.002;0.003;0.006	B;B;B	0.19666	0.02;0.022;0.026	T	0.48779	-0.9005	10	0.72032	D	0.01	.	12.6835	0.56934	0.0:0.0:0.1377:0.8623	.	1831;338;1851	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	G	1851;99;1831	ENSP00000385899:V1851G;ENSP00000374182:V1831G	ENSP00000374182:V1831G	V	+	2	0	SDK1	4226279	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.104000	0.50306	0.931000	0.37242	0.528000	0.53228	GTG	SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	146	0.68	1	T	NM_152744		4259753	4259753	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	missense	88	21.43	24	SNP	1.000	G
SDK2	54549	genome.wustl.edu	37	17	71346887	71346887	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:71346887A>C	ENST00000392650.3	-	42	5801	c.5801T>G	c.(5800-5802)gTg>gGg	p.V1934G	SDK2_ENST00000388726.3_Missense_Mutation_p.V1915G|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1934					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCAATGACCACCAAGAACCA	0.557																																						dbGAP											0													157.0	139.0	145.0					17																	71346887		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.5801T>G	17.37:g.71346887A>C	ENSP00000376421:p.Val1934Gly		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V1934G	ENST00000392650.3	37	c.5801	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398381	0.83120	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.62364	0.03;0.07;1.41	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.75079	0.3801	L	0.61218	1.895	0.80722	D	1	D;D	0.71674	0.991;0.998	P;D	0.68483	0.862;0.958	T	0.74197	-0.3743	10	0.35671	T	0.21	.	15.3483	0.74359	1.0:0.0:0.0:0.0	.	1934;1915	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	G	1558;1934;1915;1091;1934;275	ENSP00000376421:V1934G;ENSP00000373378:V1915G;ENSP00000407098:V1091G	ENSP00000324967:V1934G	V	-	2	0	SDK2	68858482	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.137000	0.94496	2.026000	0.59711	0.533000	0.62120	GTG	SDK2	-	NULL	ENSG00000069188		0.557	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	179	0.55	1	A	NM_019064		71346887	71346887	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	missense	69	18.60	16	SNP	1.000	C
SDSL	113675	genome.wustl.edu	37	12	113875868	113875868	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:113875868A>C	ENST00000403593.4	+	8	1236	c.974A>C	c.(973-975)cAc>cCc	p.H325P	SDSL_ENST00000345635.4_Missense_Mutation_p.H325P			Q96GA7	SDSL_HUMAN	serine dehydratase-like	325					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						TTGAAAACCCACCTGGGCCAG	0.602																																						dbGAP											0													82.0	89.0	87.0					12																	113875868		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.974A>C	12.37:g.113875868A>C	ENSP00000385790:p.His325Pro			Missense_Mutation	SNP	pfam_PyrdxlP-dep_enz_bsu,superfamily_PyrdxlP-dep_enz_bsu	p.H325P	ENST00000403593.4	37	c.974	CCDS9170.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.011|9.011	0.982549|0.982549	0.18889|0.18889	.|.	.|.	ENSG00000139410|ENSG00000139410	ENST00000403593;ENST00000345635|ENST00000546672	.|.	.|.	.|.	4.51|4.51	0.716|0.716	0.18191|0.18191	Pyridoxal phosphate-dependent enzyme, beta subunit (1);|.	0.395025|.	0.25405|.	N|.	0.030910|.	T|T	0.15392|0.15392	0.0371|0.0371	N|N	0.08118|0.08118	0|0	0.25986|0.25986	N|N	0.982314|0.982314	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.27262|0.27262	-1.0079|-1.0079	9|5	0.72032|.	D|.	0.01|.	-3.3092|-3.3092	4.7889|4.7889	0.13239|0.13239	0.7036:0.0:0.1579:0.1385|0.7036:0.0:0.1579:0.1385	.|.	325|.	Q96GA7|.	SDSL_HUMAN|.	P|P	325|221	.|.	ENSP00000341117:H325P|.	H|T	+|+	2|1	0|0	SDSL|SDSL	112360251|112360251	0.999000|0.999000	0.42202|0.42202	0.040000|0.040000	0.18447|0.18447	0.337000|0.337000	0.28794|0.28794	2.790000|2.790000	0.47821|0.47821	-0.058000|-0.058000	0.13177|0.13177	0.459000|0.459000	0.35465|0.35465	CAC|ACC	SDSL	-	superfamily_PyrdxlP-dep_enz_bsu	ENSG00000139410		0.602	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SDSL	HGNC	protein_coding	OTTHUMT00000404782.1	91	0.00	0	A	NM_138432		113875868	113875868	+1	no_errors	ENST00000345635	ensembl	human	known	69_37n	missense	54	23.61	17	SNP	0.998	C
SEC14L1	6397	genome.wustl.edu	37	17	75209487	75209487	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:75209487T>G	ENST00000413679.2	+	16	2258	c.1955T>G	c.(1954-1956)gTg>gGg	p.V652G	SEC14L1_ENST00000591437.1_Missense_Mutation_p.V618G|SEC14L1_ENST00000443798.4_Missense_Mutation_p.V652G|SEC14L1_ENST00000436233.4_Missense_Mutation_p.V652G|SEC14L1_ENST00000585618.1_Missense_Mutation_p.V652G|SEC14L1_ENST00000392476.2_Missense_Mutation_p.V652G|SEC14L1_ENST00000430767.4_Missense_Mutation_p.V652G|SEC14L1_ENST00000431431.2_Missense_Mutation_p.V618G	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	652	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CTTCCCCGGGTGGACGACGTG	0.597																																						dbGAP											0													61.0	46.0	51.0					17																	75209487		2203	4300	6503	-	-	-	SO:0001583	missense	0			D67029	CCDS11752.1, CCDS42385.1, CCDS45789.1	17q25.2	2008-02-01	2001-11-28			ENSG00000129657			10698	protein-coding gene	gene with protein product		601504	"""SEC14 (S. cerevisiae)-like 1"""	SEC14L		8697811	Standard	NM_001143998		Approved	PRELID4A	uc002jto.3	Q92503		ENST00000413679.2:c.1955T>G	17.37:g.75209487T>G	ENSP00000394716:p.Val652Gly		A8K4E8|B4DDI5|D5G3K1|Q99780	Missense_Mutation	SNP	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1	p.V652G	ENST00000413679.2	37	c.1955	CCDS11752.1	17	.	.	.	.	.	.	.	.	.	.	T	24.5	4.534924	0.85812	.	.	ENSG00000129657	ENST00000392476;ENST00000443798;ENST00000436233;ENST00000430767;ENST00000413679;ENST00000431431	T;T;T;T;T;T	0.74106	-0.7;-0.7;-0.69;-0.69;-0.69;-0.81	5.02	5.02	0.67125	GOLD (2);	0.000000	0.85682	D	0.000000	D	0.84293	0.5440	M	0.66939	2.045	0.80722	D	1	B;D;B	0.89917	0.009;1.0;0.024	B;D;B	0.91635	0.043;0.999;0.039	D	0.86176	0.1603	10	0.87932	D	0	-37.4935	14.075	0.64885	0.0:0.0:0.0:1.0	.	652;46;652	Q92503-2;Q6ZP00;Q92503	.;.;S14L1_HUMAN	G	652;652;652;652;652;618	ENSP00000376268:V652G;ENSP00000406030:V652G;ENSP00000390392:V652G;ENSP00000408169:V652G;ENSP00000394716:V652G;ENSP00000389838:V618G	ENSP00000376268:V652G	V	+	2	0	SEC14L1	72721082	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.411000	0.80078	2.102000	0.63906	0.459000	0.35465	GTG	SEC14L1	-	superfamily_GOLD,pfscan_GOLD	ENSG00000129657		0.597	SEC14L1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC14L1	HGNC	protein_coding	OTTHUMT00000436240.1	60	0.00	0	T	NM_003003		75209487	75209487	+1	no_errors	ENST00000392476	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	1.000	G
SEC16B	89866	genome.wustl.edu	37	1	177901870	177901870	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:177901870T>G	ENST00000308284.6	-	23	2984	c.2895A>C	c.(2893-2895)ccA>ccC	p.P965P	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000495165.1_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	965					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CCGGCAGAGGTGGGGACTCAG	0.617																																						dbGAP											0													39.0	47.0	44.0					1																	177901870		2007	4164	6171	-	-	-	SO:0001819	synonymous_variant	0			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2895A>C	1.37:g.177901870T>G			A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	NULL	p.P965	ENST00000308284.6	37	c.2895	CCDS44281.1	1																																																																																			SEC16B	-	NULL	ENSG00000120341		0.617	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	Clone_based_vega_gene	protein_coding	OTTHUMT00000084773.16	104	0.00	0	T	NM_033127		177901870	177901870	-1	no_errors	ENST00000308284	ensembl	human	known	69_37n	silent	122	15.86	23	SNP	0.000	G
SEC61A2	55176	genome.wustl.edu	37	10	12197867	12197867	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:12197867A>C	ENST00000298428.9	+	7	642	c.553A>C	c.(553-555)Acc>Ccc	p.T185P	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000379033.3_Missense_Mutation_p.T163P|SEC61A2_ENST00000304267.8_Missense_Mutation_p.T185P|SEC61A2_ENST00000379020.4_Missense_Mutation_p.T185P	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	185					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CTTTATTGCCACCAACATCTG	0.502																																						dbGAP											0													280.0	246.0	257.0					10																	12197867		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.553A>C	10.37:g.12197867A>C	ENSP00000298428:p.Thr185Pro		A8K8D0|B4DX72|F8W773	Missense_Mutation	SNP	pfam_SecY,pfam_Translocon_Sec61/SecY_plug_dom,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY	p.T185P	ENST00000298428.9	37	c.553	CCDS7088.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.5|26.5	4.747189|4.747189	0.89663|0.89663	.|.	.|.	ENSG00000065665|ENSG00000065665	ENST00000419021|ENST00000379033;ENST00000298428;ENST00000304267;ENST00000379020	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|SecY subunit domain (2);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.87807|0.87807	0.6270|0.6270	H|H	0.96748|0.96748	3.875|3.875	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.997;0.994;0.971	.|D;D;D	.|0.77004	.|0.975;0.987;0.989	D|D	0.91750|0.91750	0.5411|0.5411	5|9	.|0.87932	.|D	.|0	-18.5563|-18.5563	15.5002|15.5002	0.75691|0.75691	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|163;185;185	.|F8W773;Q9H9S3-2;Q9H9S3	.|.;.;S61A2_HUMAN	P|P	66|163;185;185;185	.|.	.|ENSP00000298428:T185P	H|T	+|+	2|1	0|0	SEC61A2|SEC61A2	12237873|12237873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.307000|9.307000	0.96226|0.96226	2.302000|2.302000	0.77476|0.77476	0.533000|0.533000	0.62120|0.62120	CAC|ACC	SEC61A2	-	pfam_SecY,superfamily_SecY_su_dom,pirsf_SecY,tigrfam_SecY	ENSG00000065665		0.502	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC61A2	HGNC	protein_coding	OTTHUMT00000046795.1	184	0.00	0	A	NM_018144		12197867	12197867	+1	no_errors	ENST00000298428	ensembl	human	known	69_37n	missense	258	10.42	30	SNP	1.000	C
SEMA3A	10371	genome.wustl.edu	37	7	83610763	83610763	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:83610763A>C	ENST00000265362.4	-	14	1840	c.1526T>G	c.(1525-1527)gTt>gGt	p.V509G	SEMA3A_ENST00000436949.1_Missense_Mutation_p.V509G	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	509	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GAGCTGGGCAACCCCAGCCGT	0.453																																						dbGAP											0													59.0	58.0	58.0					7																	83610763		2203	4300	6503	-	-	-	SO:0001583	missense	0			L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1526T>G	7.37:g.83610763A>C	ENSP00000265362:p.Val509Gly			Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.V509G	ENST00000265362.4	37	c.1526	CCDS5599.1	7	.	.	.	.	.	.	.	.	.	.	A	17.03	3.284038	0.59867	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.37411	1.2;1.2	5.71	5.71	0.89125	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.110450	0.64402	D	0.000010	T	0.68284	0.2984	M	0.93898	3.47	0.80722	D	1	P	0.52316	0.952	P	0.62184	0.899	T	0.77680	-0.2497	10	0.87932	D	0	.	15.9869	0.80160	1.0:0.0:0.0:0.0	.	509	Q14563	SEM3A_HUMAN	G	509	ENSP00000265362:V509G;ENSP00000415260:V509G	ENSP00000265362:V509G	V	-	2	0	SEMA3A	83448699	0.999000	0.42202	0.380000	0.26093	0.053000	0.15095	9.281000	0.95811	2.171000	0.68590	0.533000	0.62120	GTT	SEMA3A	-	superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000075213		0.453	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	HGNC	protein_coding	OTTHUMT00000253355.2	210	0.94	2	A	NM_006080		83610763	83610763	-1	no_errors	ENST00000265362	ensembl	human	known	69_37n	missense	79	19.39	19	SNP	0.996	C
SEMA5A	9037	genome.wustl.edu	37	5	9044570	9044570	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:9044570T>G	ENST00000382496.5	-	22	3685	c.3020A>C	c.(3019-3021)cAc>cCc	p.H1007P	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1007					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)			biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGAGACGGGGTGGATGACAGT	0.547																																						dbGAP											0													170.0	142.0	151.0					5																	9044570		2203	4300	6503	-	-	-	SO:0001583	missense	0			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.3020A>C	5.37:g.9044570T>G	ENSP00000371936:p.His1007Pro		D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.H1007P	ENST00000382496.5	37	c.3020	CCDS3875.1	5	.	.	.	.	.	.	.	.	.	.	T	18.46	3.628656	0.67015	.	.	ENSG00000112902	ENST00000382496	T	0.37752	1.18	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.48095	0.1481	L	0.34521	1.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.50642	-0.8804	10	0.87932	D	0	.	12.481	0.55842	0.0:0.0:0.0:1.0	.	1007	Q13591	SEM5A_HUMAN	P	1007	ENSP00000371936:H1007P	ENSP00000371936:H1007P	H	-	2	0	SEMA5A	9097570	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	7.661000	0.83786	1.833000	0.53350	0.460000	0.39030	CAC	SEMA5A	-	NULL	ENSG00000112902		0.547	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA5A	HGNC	protein_coding	OTTHUMT00000206989.2	207	0.95	2	T			9044570	9044570	-1	no_errors	ENST00000382496	ensembl	human	known	69_37n	missense	166	16.00	32	SNP	1.000	G
SEMA6C	10500	genome.wustl.edu	37	1	151110189	151110189	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:151110189T>C	ENST00000341697.3	-	10	2445	c.754A>G	c.(754-756)Agg>Ggg	p.R252G				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	252	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.			R -> K (in Ref. 2; BAB20670). {ECO:0000305}.	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)			CTCCTTACCCTCCCCAGCCGA	0.567																																						dbGAP											0													119.0	108.0	111.0					1																	151110189		2203	4300	6503	-	-	-	SO:0001583	missense	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.754A>G	1.37:g.151110189T>C	ENSP00000344148:p.Arg252Gly		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.R252G	ENST00000341697.3	37	c.754	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766803	0.69878	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	4.48	3.33	0.38152	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.048827	0.85682	D	0.000000	T	0.12860	0.0312	L	0.42245	1.32	0.32719	N	0.510618	P;D;P;D	0.69078	0.931;0.992;0.916;0.997	P;D;P;D	0.80764	0.796;0.974;0.693;0.994	T	0.00832	-1.1548	10	0.87932	D	0	.	9.3742	0.38272	0.0:0.0:0.1918:0.8082	.	252;212;252;252	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	G	252;212;252;252;252	ENSP00000357910:R252G;ENSP00000357908:R212G;ENSP00000357909:R252G;ENSP00000344148:R252G	ENSP00000344148:R252G	R	-	1	2	SEMA6C	149376813	0.932000	0.31603	0.986000	0.45419	0.917000	0.54804	1.469000	0.35343	1.884000	0.54569	0.459000	0.35465	AGG	SEMA6C	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000143434		0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	144	0.00	0	T	NM_030913		151110189	151110189	-1	no_errors	ENST00000368913	ensembl	human	known	69_37n	missense	221	13.28	34	SNP	0.781	C
SEMA6C	10500	genome.wustl.edu	37	1	151110819	151110819	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:151110819T>G	ENST00000341697.3	-	8	2211	c.520A>C	c.(520-522)Acc>Ccc	p.T174P				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	174	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				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)			TTGGACTGGGTGGCATCAAAG	0.587																																						dbGAP											0													85.0	83.0	84.0					1																	151110819		2203	4300	6503	-	-	-	SO:0001583	missense	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.520A>C	1.37:g.151110819T>G	ENSP00000344148:p.Thr174Pro		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.T174P	ENST00000341697.3	37	c.520	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.531620	0.64972	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.82	3.69	0.42338	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.272209	0.37761	N	0.001954	T	0.26955	0.0660	L	0.57536	1.79	0.29362	N	0.864634	D;D;P;D	0.69078	0.983;0.993;0.89;0.997	P;P;P;D	0.64776	0.781;0.801;0.491;0.929	T	0.07501	-1.0769	10	0.72032	D	0.01	.	8.6486	0.34020	0.0:0.0911:0.0:0.9089	.	174;174;174;174	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	P	174	ENSP00000357910:T174P;ENSP00000357908:T174P;ENSP00000357909:T174P;ENSP00000344148:T174P	ENSP00000344148:T174P	T	-	1	0	SEMA6C	149377443	0.400000	0.25295	1.000000	0.80357	0.994000	0.84299	0.626000	0.24492	0.880000	0.35969	0.459000	0.35465	ACC	SEMA6C	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000143434		0.587	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	153	0.00	0	T	NM_030913		151110819	151110819	-1	no_errors	ENST00000368913	ensembl	human	known	69_37n	missense	134	11.84	18	SNP	1.000	G
SENP1	29843	genome.wustl.edu	37	12	48491829	48491829	+	Missense_Mutation	SNP	A	A	G	rs200707917		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:48491829A>G	ENST00000004980.5	-	3	561	c.83T>C	c.(82-84)cTc>cCc	p.L28P	SENP1_ENST00000549518.1_Missense_Mutation_p.L28P|SENP1_ENST00000549595.1_Missense_Mutation_p.L28P|SENP1_ENST00000551330.1_Missense_Mutation_p.L28P|SENP1_ENST00000448372.1_Missense_Mutation_p.L28P|SENP1_ENST00000339976.6_Missense_Mutation_p.L60P|SENP1_ENST00000547886.1_5'Flank			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	28					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TTGTGGCAGGAGGTGGGTTTT	0.438																																						dbGAP											0													82.0	93.0	89.0					12																	48491829		1888	4122	6010	-	-	-	SO:0001583	missense	0			AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.83T>C	12.37:g.48491829A>G	ENSP00000004980:p.Leu28Pro		A8K7P5|Q86XC8	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.L28P	ENST00000004980.5	37	c.83	CCDS44868.2	12	.	.	.	.	.	.	.	.	.	.	A	13.51	2.259465	0.39995	.	.	ENSG00000079387	ENST00000004980;ENST00000339976;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518;ENST00000551798	T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26	5.22	2.78	0.32641	.	0.650595	0.14241	N	0.332057	T	0.08133	0.0203	N	0.14661	0.345	0.39310	D	0.965059	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.25082	-1.0142	10	0.31617	T	0.26	0.5864	2.1086	0.03697	0.587:0.1587:0.0847:0.1696	.	28;28	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	P	28;60;28;28;28;28;21	ENSP00000004980:L28P;ENSP00000394791:L28P;ENSP00000446681:L28P;ENSP00000450076:L28P;ENSP00000447328:L28P	ENSP00000004980:L28P	L	-	2	0	SENP1	46778096	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	1.084000	0.30828	0.483000	0.27608	0.533000	0.62120	CTC	SENP1	-	NULL	ENSG00000079387		0.438	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP1	HGNC	protein_coding	OTTHUMT00000406471.1	287	0.69	2	A	NM_014554		48491829	48491829	-1	no_errors	ENST00000004980	ensembl	human	known	69_37n	missense	185	18.86	43	SNP	0.975	G
SEPT10	151011	genome.wustl.edu	37	2	110303611	110303611	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:110303611T>G	ENST00000397712.2	-	10	1728				SEPT10_ENST00000437928.1_Intron|SEPT10_ENST00000356688.4_Intron|SEPT10_ENST00000415095.1_3'UTR|SEPT10_ENST00000545389.1_3'UTR|SEPT10_ENST00000334001.6_Intron|SEPT10_ENST00000468616.1_5'UTR|SEPT10_ENST00000397714.2_Intron	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CCAGGGAGGGTGGCTGGGCCT	0.522											OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													130.0	146.0	141.0					2																	110303611		2018	4169	6187	-	-	-	SO:0001627	intron_variant	0			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1349+15A>C	2.37:g.110303611T>G		1426	B3KRQ9|Q86VP5|Q9HAH6	RNA	SNP	-	NULL	ENST00000397712.2	37	NULL	CCDS46383.1	2																																																																																			SEPT10	-	-	ENSG00000186522		0.522	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	HGNC	protein_coding	OTTHUMT00000337804.1	296	0.67	2	T	NM_144710		110303611	110303611	-1	no_errors	ENST00000468616	ensembl	human	known	69_37n	rna	206	15.45	38	SNP	0.000	G
CCNI2	645121	genome.wustl.edu	37	5	132087773	132087773	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:132087773A>C	ENST00000378731.1	+	5	941	c.890A>C	c.(889-891)cAc>cCc	p.H297P	SEPT8_ENST00000481030.1_5'UTR|SEPT8_ENST00000378719.2_Missense_Mutation_p.W463G	NM_001039780.2	NP_001034869.1	Q6ZMN8	CCNI2_HUMAN	cyclin I family, member 2	297					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGCGGGCCACCAGCTGCTG	0.602																																						dbGAP											0													30.0	25.0	26.0					5																	132087773		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC132837	CCDS34236.1, CCDS75297.1	5q31.1	2014-07-03			ENSG00000205089	ENSG00000205089			33869	protein-coding gene	gene with protein product						23707792	Standard	NM_001287252		Approved	FLJ16793	uc003kxq.1	Q6ZMN8	OTTHUMG00000059737	ENST00000378731.1:c.890A>C	5.37:g.132087773A>C	ENSP00000368005:p.His297Pro		B2RNE2|B7ZMB7|B7ZMB8	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.W463G	ENST00000378731.1	37	c.1387	CCDS34236.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	23.5|23.5	4.429395|4.429395	0.83776|0.83776	.|.	.|.	ENSG00000205089|ENSG00000164402	ENST00000378731|ENST00000378719	T|T	0.48201|0.52526	0.82|0.66	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.049316|.	0.85682|.	D|.	0.000000|.	T|T	0.53206|0.53206	0.1782|0.1782	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	D;D;D|B	0.89917|0.30193	1.0;1.0;0.995|0.272	D;D;P|B	0.73380|0.33620	0.98;0.98;0.862|0.167	T|T	0.56463|0.56463	-0.7975|-0.7975	10|9	0.40728|0.87932	T|D	0.16|0	.|.	16.5641|16.5641	0.84574|0.84574	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	298;313;297|463	B7ZMB7;B7ZMB8;Q6ZMN8|Q92599	.;.;CCNI2_HUMAN|SEPT8_HUMAN	P|G	297|463	ENSP00000368005:H297P|ENSP00000367991:W463G	ENSP00000368005:H297P|ENSP00000367991:W463G	H|W	+|-	2|1	0|0	CCNI2|SEPT8	132115672|132115672	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.854000|8.854000	0.92228|0.92228	2.368000|2.368000	0.80403|0.80403	0.529000|0.529000	0.55759|0.55759	CAC|TGG	SEPT8	-	NULL	ENSG00000164402		0.602	CCNI2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SEPT8	HGNC	protein_coding	OTTHUMT00000132833.1	53	0.00	0	A	NM_001039780		132087773	132087773	-1	no_errors	ENST00000378719	ensembl	human	known	69_37n	missense	30	31.82	14	SNP	1.000	C
SERPINF2	5345	genome.wustl.edu	37	17	1649140	1649140	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:1649140A>C	ENST00000324015.3	+	5	381	c.304A>C	c.(304-306)Acc>Ccc	p.T102P	SERPINF2_ENST00000450523.2_Intron|SERPINF2_ENST00000382061.4_Missense_Mutation_p.T102P	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	102					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta production (GO:0071636)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of proteolysis (GO:0030162)|response to organic substance (GO:0010033)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	endopeptidase inhibitor activity (GO:0004866)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Ocriplasmin(DB08888)	TCAAACGTCCACCTGCCCCAA	0.637																																						dbGAP											0													137.0	137.0	137.0					17																	1649140		2203	4300	6503	-	-	-	SO:0001583	missense	0			D00174	CCDS11011.1, CCDS54064.1	17p13.3	2014-02-18	2005-08-18		ENSG00000167711	ENSG00000167711		"""Serine (or cysteine) peptidase inhibitors"""	9075	protein-coding gene	gene with protein product	"""alpha-2-plasmin inhibitor"", ""alpha-2-antiplasmin"""	613168	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2"""	PLI		3416655, 24172014	Standard	NM_000934		Approved	API, ALPHA-2-PI, A2AP, AAP	uc002ftk.1	P08697	OTTHUMG00000090552	ENST00000324015.3:c.304A>C	17.37:g.1649140A>C	ENSP00000321853:p.Thr102Pro		B4E1B7|Q8N5U7|Q9UCG2|Q9UCG3	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.T102P	ENST00000324015.3	37	c.304	CCDS11011.1	17	.	.	.	.	.	.	.	.	.	.	A	12.09	1.833625	0.32421	.	.	ENSG00000167711	ENST00000453066;ENST00000324015;ENST00000453723;ENST00000382061	D;D;T;D	0.83419	-1.72;-1.72;1.45;-1.72	5.39	3.16	0.36331	Serpin domain (3);	0.607412	0.19157	N	0.121293	T	0.64702	0.2622	N	0.05330	-0.07	0.27565	N	0.950062	B	0.24576	0.106	B	0.29353	0.101	T	0.54241	-0.8323	10	0.25106	T	0.35	.	7.0146	0.24881	0.7947:0.0:0.0722:0.1332	.	102	P08697	A2AP_HUMAN	P	102	ENSP00000402286:T102P;ENSP00000321853:T102P;ENSP00000402056:T102P;ENSP00000371493:T102P	ENSP00000321853:T102P	T	+	1	0	SERPINF2	1595890	0.371000	0.25056	0.950000	0.38849	0.276000	0.26787	3.757000	0.55212	0.867000	0.35654	-0.516000	0.04426	ACC	SERPINF2	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000167711		0.637	SERPINF2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF2	HGNC	protein_coding	OTTHUMT00000207078.3	132	0.75	1	A	NM_000934		1649140	1649140	+1	no_errors	ENST00000324015	ensembl	human	known	69_37n	missense	130	15.03	23	SNP	0.962	C
SERPINH1	871	genome.wustl.edu	37	11	75280189	75280189	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:75280189T>G	ENST00000524558.1	+	4	2362	c.927T>G	c.(925-927)ggT>ggG	p.G309G	SERPINH1_ENST00000533603.1_Silent_p.G309G|SERPINH1_ENST00000358171.3_Silent_p.G309G|SERPINH1_ENST00000525876.1_Silent_p.G92G|SERPINH1_ENST00000530284.1_Silent_p.G309G			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	309					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					TGCCCAAGGGTGTGGTGGAGG	0.607																																						dbGAP											0													55.0	45.0	48.0					11																	75280189		2200	4293	6493	-	-	-	SO:0001819	synonymous_variant	0			X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.927T>G	11.37:g.75280189T>G			B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.G309	ENST00000524558.1	37	c.927	CCDS8239.1	11																																																																																			SERPINH1	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000149257		0.607	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINH1	HGNC	protein_coding	OTTHUMT00000383610.1	125	0.00	0	T	NM_004353		75280189	75280189	+1	no_errors	ENST00000358171	ensembl	human	known	69_37n	silent	67	15.19	12	SNP	0.013	G
SETD1A	9739	genome.wustl.edu	37	16	30972724	30972724	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:30972724A>C	ENST00000262519.8	+	4	1069	c.383A>C	c.(382-384)cAc>cCc	p.H128P		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	128	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ATCCTCCTTCACCCCCGTACG	0.572																																						dbGAP											0													98.0	78.0	85.0					16																	30972724		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.383A>C	16.37:g.30972724A>C	ENSP00000262519:p.His128Pro		A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.H128P	ENST00000262519.8	37	c.383	CCDS32435.1	16	.	.	.	.	.	.	.	.	.	.	A	15.58	2.874890	0.51695	.	.	ENSG00000099381	ENST00000262519;ENST00000452917	T;T	0.41758	0.99;0.99	5.32	5.32	0.75619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.65217	0.2670	M	0.78456	2.415	0.53688	D	0.999976	D	0.89917	1.0	D	0.77004	0.989	T	0.70245	-0.4925	10	0.87932	D	0	.	14.3071	0.66391	1.0:0.0:0.0:0.0	.	128	O15047	SET1A_HUMAN	P	128	ENSP00000262519:H128P;ENSP00000391408:H128P	ENSP00000262519:H128P	H	+	2	0	SETD1A	30880225	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.032000	0.59987	0.477000	0.44152	CAC	SETD1A	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000099381		0.572	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD1A	HGNC	protein_coding	OTTHUMT00000318244.2	74	0.00	0	A	NM_014712		30972724	30972724	+1	no_errors	ENST00000262519	ensembl	human	known	69_37n	missense	48	27.94	19	SNP	1.000	C
SEZ6	124925	genome.wustl.edu	37	17	27287908	27287908	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:27287908T>G	ENST00000317338.12	-	6	1752	c.1324A>C	c.(1324-1326)Acc>Ccc	p.T442P	SEZ6_ENST00000442608.3_Missense_Mutation_p.T442P|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.T442P|SEZ6_ENST00000360295.9_Missense_Mutation_p.T442P			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	442	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CAGTGACAGGTGAGGTTGTTG	0.602																																						dbGAP											0													116.0	136.0	129.0					17																	27287908		2156	4257	6413	-	-	-	SO:0001583	missense	0			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.1324A>C	17.37:g.27287908T>G	ENSP00000312942:p.Thr442Pro		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_CUB,superfamily_CUB,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_CUB,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.T442P	ENST00000317338.12	37	c.1324	CCDS45639.1	17	.	.	.	.	.	.	.	.	.	.	T	23.1	4.370627	0.82573	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	T;T;T	0.18502	2.21;2.21;2.21	4.75	4.75	0.60458	CUB (5);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.40887	-0.9539	10	0.37606	T	0.19	.	12.5375	0.56150	0.0:0.0:0.0:1.0	.	442;442	Q53EL9-3;Q53EL9	.;SEZ6_HUMAN	P	442;442;317;442;442	ENSP00000403784:T442P;ENSP00000353440:T442P;ENSP00000337407:T442P	ENSP00000312942:T317P	T	-	1	0	SEZ6	24312034	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.853000	0.55941	2.132000	0.65825	0.260000	0.18958	ACC	SEZ6	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000063015		0.602	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6	HGNC	protein_coding	OTTHUMT00000397475.3	141	0.70	1	T			27287908	27287908	-1	no_errors	ENST00000317338	ensembl	human	known	69_37n	missense	82	20.39	21	SNP	1.000	G
SF3B3	23450	genome.wustl.edu	37	16	70590860	70590860	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:70590860T>G	ENST00000302516.5	+	15	2149	c.1938T>G	c.(1936-1938)ggT>ggG	p.G646G		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	646					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TGGAAATGGGTGGGACTGAGA	0.512																																						dbGAP											0													128.0	119.0	122.0					16																	70590860		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.1938T>G	16.37:g.70590860T>G			Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom	p.G646	ENST00000302516.5	37	c.1938	CCDS10894.1	16																																																																																			SF3B3	-	superfamily_WD40_repeat_dom	ENSG00000189091		0.512	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B3	HGNC	protein_coding	OTTHUMT00000268972.1	263	0.37	1	T	NM_012426		70590860	70590860	+1	no_errors	ENST00000302516	ensembl	human	known	69_37n	silent	155	14.36	26	SNP	0.999	G
SFXN3	81855	genome.wustl.edu	37	10	102798332	102798332	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:102798332T>G	ENST00000224807.5	+	10	1239				SFXN3_ENST00000393459.1_Intron|SFXN3_ENST00000466982.1_3'UTR	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3						iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGAGCTATGGTGGGTGAAATG	0.602											OREG0020454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													123.0	125.0	124.0					10																	102798332		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"""Sideroflexins"""	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.784-68T>G	10.37:g.102798332T>G		1369	Q8NCJ0|Q9NTP4	RNA	SNP	-	NULL	ENST00000224807.5	37	NULL	CCDS7508.2	10																																																																																			SFXN3	-	-	ENSG00000107819		0.602	SFXN3-201	KNOWN	basic|CCDS	protein_coding	SFXN3	HGNC	protein_coding		290	0.34	1	T	NM_030971		102798332	102798332	+1	no_errors	ENST00000466982	ensembl	human	known	69_37n	rna	243	14.08	40	SNP	0.000	G
SFXN3	81855	genome.wustl.edu	37	10	102798336	102798336	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:102798336T>G	ENST00000224807.5	+	10	1239				SFXN3_ENST00000393459.1_Intron|SFXN3_ENST00000466982.1_3'UTR	NM_030971.3	NP_112233.2	Q9BWM7	SFXN3_HUMAN	sideroflexin 3						iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CTATGGTGGGTGAAATGGGGT	0.597											OREG0020454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													131.0	133.0	132.0					10																	102798336		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK074707	CCDS7508.2	10q24.32	2008-09-04			ENSG00000107819	ENSG00000107819		"""Sideroflexins"""	16087	protein-coding gene	gene with protein product		615571					Standard	NM_030971		Approved	SFX3	uc001ksp.3	Q9BWM7	OTTHUMG00000018921	ENST00000224807.5:c.784-64T>G	10.37:g.102798336T>G		1369	Q8NCJ0|Q9NTP4	RNA	SNP	-	NULL	ENST00000224807.5	37	NULL	CCDS7508.2	10																																																																																			SFXN3	-	-	ENSG00000107819		0.597	SFXN3-201	KNOWN	basic|CCDS	protein_coding	SFXN3	HGNC	protein_coding		289	0.68	2	T	NM_030971		102798336	102798336	+1	no_errors	ENST00000466982	ensembl	human	known	69_37n	rna	223	21.05	60	SNP	0.000	G
KIAA0100	9703	genome.wustl.edu	37	17	26939647	26939647	+	IGR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:26939647T>G	ENST00000528896.2	-	0	7407				SGK494_ENST00000301037.5_Missense_Mutation_p.H179P|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000469832.3_5'UTR|RP11-192H23.6_ENST00000579019.2_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000414744.1_RNA|RP11-192H23.4_ENST00000534850.1_Intron|RP11-192H23.4_ENST00000577790.1_Intron	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100							extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AATGAAAAGGTGCCGTTTTCC	0.507																																						dbGAP											0													139.0	105.0	117.0					17																	26939647		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587		17.37:g.26939647T>G			A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	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.H179P	ENST00000528896.2	37	c.536	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	T	24.3	4.518072	0.85495	.	.	ENSG00000167524	ENST00000301037;ENST00000530121	T;T	0.66815	-0.23;-0.23	5.97	5.97	0.96955	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76521	0.3999	L	0.52573	1.65	0.51233	D	0.999917	D	0.65815	0.995	D	0.67725	0.953	T	0.78617	-0.2134	10	0.87932	D	0	-13.3869	13.834	0.63398	0.0:0.0:0.0:1.0	.	179	Q96LW2	SG494_HUMAN	P	179;175	ENSP00000301037:H179P;ENSP00000434603:H175P	ENSP00000301037:H179P	H	-	2	0	AC005726.6	23963774	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.857000	0.75455	2.288000	0.76882	0.533000	0.62120	CAC	SGK494	-	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	ENSG00000167524		0.507	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK494	Clone_based_vega_gene	protein_coding	OTTHUMT00000390571.3	213	0.93	2	T	NM_014680		26939647	26939647	-1	no_errors	ENST00000301037	ensembl	human	known	69_37n	missense	163	10.44	19	SNP	1.000	G
SH2B3	10019	genome.wustl.edu	37	12	111885877	111885877	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:111885877A>C	ENST00000341259.2	+	8	1856	c.1499A>C	c.(1498-1500)cAc>cCc	p.H500P	SH2B3_ENST00000538307.1_Missense_Mutation_p.H298P	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	500					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|embryonic hemopoiesis (GO:0035162)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)	phosphate ion binding (GO:0042301)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10					Pazopanib(DB06589)	GGCCTTCCCCACCTTAGTTCT	0.612																																						dbGAP											0													147.0	136.0	140.0					12																	111885877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055581	CCDS9153.1	12q24.12	2014-09-17				ENSG00000111252		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	29605	protein-coding gene	gene with protein product	"""lymphocyte adaptor protein"""	605093				10799879	Standard	NM_005475		Approved	LNK, IDDM20	uc001tse.3	Q9UQQ2		ENST00000341259.2:c.1499A>C	12.37:g.111885877A>C	ENSP00000345492:p.His500Pro		B9EGG5|O95184	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.H298P	ENST00000341259.2	37	c.893	CCDS9153.1	12	.	.	.	.	.	.	.	.	.	.	A	10.36	1.328494	0.24167	.	.	ENSG00000111252	ENST00000341259;ENST00000551001;ENST00000538307	T;T	0.34275	1.4;1.37	4.96	3.73	0.42828	.	0.319850	0.33772	N	0.004575	T	0.24470	0.0593	N	0.19112	0.55	0.40892	D	0.984084	B;B;B	0.16166	0.005;0.016;0.008	B;B;B	0.15484	0.013;0.007;0.009	T	0.11567	-1.0582	10	0.59425	D	0.04	-15.7208	12.3177	0.54966	0.7921:0.2079:0.0:0.0	.	298;364;500	F5GYM4;Q59H48;Q9UQQ2	.;.;SH2B3_HUMAN	P	500;310;298	ENSP00000345492:H500P;ENSP00000440597:H298P	ENSP00000345492:H500P	H	+	2	0	SH2B3	110370260	0.992000	0.36948	0.989000	0.46669	0.628000	0.37860	0.936000	0.28938	2.002000	0.58637	0.379000	0.24179	CAC	SH2B3	-	NULL	ENSG00000111252		0.612	SH2B3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2B3	HGNC	protein_coding	OTTHUMT00000404779.1	191	0.00	0	A	NM_005475		111885877	111885877	+1	no_errors	ENST00000538307	ensembl	human	known	69_37n	missense	204	12.07	28	SNP	0.889	C
SH3D21	79729	genome.wustl.edu	37	1	36773133	36773133	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:36773133T>G	ENST00000426732.2	+	5	373				SH3D21_ENST00000453908.2_Missense_Mutation_p.W121G|SH3D21_ENST00000312808.4_5'UTR|SH3D21_ENST00000505871.1_Missense_Mutation_p.W10G			A4FU49	SH321_HUMAN	SH3 domain containing 21							extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						GGACGGCTGGTGGCTGGGGAA	0.607																																						dbGAP											0													67.0	77.0	74.0					1																	36773133		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.89-238T>G	1.37:g.36773133T>G			B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.W121G	ENST00000426732.2	37	c.361		1	.	.	.	.	.	.	.	.	.	.	T	18.07	3.541129	0.65085	.	.	ENSG00000214193	ENST00000373139;ENST00000453908;ENST00000505871	T;T;T	0.46451	0.87;0.87;0.87	5.32	5.32	0.75619	.	0.000000	0.64402	U	0.000008	T	0.56077	0.1961	M	0.92367	3.3	0.80722	D	1	B	0.34103	0.437	B	0.37888	0.26	T	0.64445	-0.6406	10	0.62326	D	0.03	.	11.6637	0.51363	0.0:0.0:0.0:1.0	.	10	A4FU49-3	.	G	121;121;10	ENSP00000362232:W121G;ENSP00000403476:W121G;ENSP00000421294:W10G	ENSP00000362232:W121G	W	+	1	0	SH3D21	36545720	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.494000	0.53273	2.015000	0.59207	0.533000	0.62120	TGG	SH3D21	-	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000214193		0.607	SH3D21-202	KNOWN	basic	protein_coding	SH3D21	HGNC	protein_coding		138	0.71	1	T	NM_024676		36773133	36773133	+1	no_errors	ENST00000453908	ensembl	human	known	69_37n	missense	75	20.21	19	SNP	1.000	G
SH2D2A	9047	genome.wustl.edu	37	1	156784763	156784763	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:156784763T>G	ENST00000368199.3	-	3	462				SH2D2A_ENST00000368198.3_Intron|SH2D2A_ENST00000495306.1_5'UTR|NTRK1_ENST00000392302.2_5'Flank|SH2D2A_ENST00000392306.2_Intron	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A						angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCTGGCAGGTGGCAGGACCC	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.308+65A>C	1.37:g.156784763T>G			O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	RNA	SNP	-	NULL	ENST00000368199.3	37	NULL	CCDS1159.1	1																																																																																			SH2D2A	-	-	ENSG00000027869		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SH2D2A	HGNC	protein_coding	OTTHUMT00000098982.1	28	0.00	0	T	NM_003975		156784763	156784763	-1	no_errors	ENST00000495306	ensembl	human	known	69_37n	rna	26	21.21	7	SNP	0.000	G
SHANK2	22941	genome.wustl.edu	37	11	70331454	70331454	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:70331454T>G	ENST00000423696.2	-	15	3843	c.3807A>C	c.(3805-3807)tcA>tcC	p.S1269S	SHANK2_ENST00000409161.1_Silent_p.S1052S|SHANK2_ENST00000449833.2_Silent_p.S1053S|SHANK2_ENST00000338508.4_Silent_p.S1649S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1269					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CTCCCATTGGTGAATCCAGTC	0.542																																						dbGAP											0													68.0	64.0	65.0					11																	70331454		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3807A>C	11.37:g.70331454T>G			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.S1649	ENST00000423696.2	37	c.4947		11																																																																																			SHANK2	-	NULL	ENSG00000162105		0.542	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		70	0.00	0	T	NM_012309		70331454	70331454	-1	no_errors	ENST00000338508	ensembl	human	known	69_37n	silent	47	20.34	12	SNP	0.002	G
SHANK2	22941	genome.wustl.edu	37	11	70348996	70348996	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:70348996A>C	ENST00000423696.2	-	8	1001	c.965T>G	c.(964-966)gTg>gGg	p.V322G	SHANK2_ENST00000409530.1_Missense_Mutation_p.V112G|SHANK2_ENST00000409161.1_Missense_Mutation_p.V112G|SHANK2_ENST00000449833.2_Missense_Mutation_p.V113G|SHANK2_ENST00000338508.4_Missense_Mutation_p.V702G|SHANK2_ENST00000357171.3_Missense_Mutation_p.V113G|SHANK2_ENST00000449116.2_Missense_Mutation_p.V113G			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	322	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CATGTTCACCACCTGCCTGTG	0.562																																						dbGAP											0													158.0	135.0	143.0					11																	70348996		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.965T>G	11.37:g.70348996A>C	ENSP00000394536:p.Val322Gly		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.V702G	ENST00000423696.2	37	c.2105		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.4|23.4	4.413970|4.413970	0.83449|0.83449	.|.	.|.	ENSG00000162105|ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018;ENST00000409530;ENST00000449116;ENST00000357171|ENST00000426687	T;T;T;T;T;T;T;T|.	0.53640|.	0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61|.	4.46|4.46	4.46|4.46	0.54185|0.54185	PDZ/DHR/GLGF (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86301|0.86301	0.5900|0.5900	H|H	0.95679|0.95679	3.705|3.705	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;0.999|.	D|D	0.90456|0.90456	0.4442|0.4442	10|5	0.87932|.	D|.	0|.	.|.	14.0594|14.0594	0.64790|0.64790	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	113;322;701;113|.	B7ZKU9;Q9UPX8;Q9UPX8-3;Q9UPX8-4|.	.;SHAN2_HUMAN;.;.|.	G|G	113;112;702;322;336;332;112;113;113|111	ENSP00000399423:V113G;ENSP00000386491:V112G;ENSP00000345193:V702G;ENSP00000394536:V322G;ENSP00000294018:V332G;ENSP00000387324:V112G;ENSP00000394939:V113G;ENSP00000349694:V113G|.	ENSP00000294018:V332G|.	V|W	-|-	2|1	0|0	SHANK2|SHANK2	70026644|70026644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.661000|8.661000	0.91125|0.91125	1.789000|1.789000	0.52484|0.52484	0.379000|0.379000	0.24179|0.24179	GTG|TGG	SHANK2	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000162105		0.562	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		75	0.00	0	A	NM_012309		70348996	70348996	-1	no_errors	ENST00000338508	ensembl	human	known	69_37n	missense	75	25.74	26	SNP	1.000	C
SHANK2	22941	genome.wustl.edu	37	11	70709961	70709961	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:70709961A>C	ENST00000338508.4	-	17	1177				SHANK2-AS3_ENST00000307548.2_RNA			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			gacgacagccacctgcaagcc	0.542																																						dbGAP											0													89.0	108.0	102.0					11																	70709961		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000338508.4:c.1177+32644T>G	11.37:g.70709961A>C			C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	RNA	SNP	-	NULL	ENST00000338508.4	37	NULL		11																																																																																			SHANK2-AS3	-	-	ENSG00000171671		0.542	SHANK2-201	KNOWN	basic|appris_principal	protein_coding	SHANK2-AS3	HGNC	protein_coding		178	0.56	1	A	NM_012309		70709961	70709961	+1	no_errors	ENST00000307548	ensembl	human	known	69_37n	rna	77	11.49	10	SNP	0.000	C
SHISA5	51246	genome.wustl.edu	37	3	48510836	48510836	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:48510836T>G	ENST00000296444.2	-	5	903	c.567A>C	c.(565-567)gcA>gcC	p.A189A	SHISA5_ENST00000465449.1_5'UTR|SHISA5_ENST00000443308.2_Silent_p.A182A|SHISA5_ENST00000444115.1_Silent_p.A158A|SHISA5_ENST00000442747.1_Silent_p.A158A|SHISA5_ENST00000426002.1_Silent_p.A86A	NM_001272065.1|NM_016479.3	NP_001258994.1|NP_057563.3	Q8N114	SHSA5_HUMAN	shisa family member 5	189	Pro-rich.				intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			large_intestine(1)|lung(1)	2						TTGGGTAGGGTGCTGCTGGCA	0.647																																						dbGAP											0													139.0	125.0	130.0					3																	48510836		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF520698	CCDS2770.1, CCDS63621.1, CCDS63622.1, CCDS63623.1	3p21.31	2013-07-31	2013-07-31		ENSG00000164054	ENSG00000164054		"""Shisa homologs"""	30376	protein-coding gene	gene with protein product		607290	"""shisa homolog 5 (Xenopus laevis)"""			11042152, 12135983	Standard	NM_016479		Approved	SCOTIN, hShisa5	uc011bbk.1	Q8N114	OTTHUMG00000133529	ENST00000296444.2:c.567A>C	3.37:g.48510836T>G			B3KW99|F8W9N8|Q69YY9|Q7Z433|Q8NHL9|Q96MW8|Q9BV58	Silent	SNP	NULL	p.A189	ENST00000296444.2	37	c.567	CCDS2770.1	3	.	.	.	.	.	.	.	.	.	.	T	11.15	1.554373	0.27739	.	.	ENSG00000164054	ENST00000536074	.	.	.	4.93	1.16	0.20824	.	.	.	.	.	T	0.58623	0.2135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57551	-0.7792	5	0.87932	D	0	-32.2714	4.4464	0.11600	0.0:0.1975:0.1918:0.6106	.	.	.	.	P	10	.	ENSP00000445956:H10P	H	-	2	0	SHISA5	48485840	0.991000	0.36638	0.998000	0.56505	0.956000	0.61745	-0.018000	0.12568	0.312000	0.23038	0.460000	0.39030	CAC	SHISA5	-	NULL	ENSG00000164054		0.647	SHISA5-001	KNOWN	basic|CCDS	protein_coding	SHISA5	HGNC	protein_coding	OTTHUMT00000257504.3	227	0.87	2	T	NM_016479		48510836	48510836	-1	no_errors	ENST00000296444	ensembl	human	known	69_37n	silent	199	14.59	34	SNP	0.999	G
SHKBP1	92799	genome.wustl.edu	37	19	41094607	41094607	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:41094607A>C	ENST00000291842.5	+	14	1463	c.1414A>C	c.(1414-1416)Acc>Ccc	p.T472P	SHKBP1_ENST00000600733.1_Missense_Mutation_p.T447P|SHKBP1_ENST00000597649.1_3'UTR	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	472					protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCCGGCTCCACCCCACTCGC	0.612																																						dbGAP											0													111.0	104.0	107.0					19																	41094607		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.1414A>C	19.37:g.41094607A>C	ENSP00000291842:p.Thr472Pro		Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.T472P	ENST00000291842.5	37	c.1414	CCDS12560.1	19	.	.	.	.	.	.	.	.	.	.	A	22.2	4.256230	0.80246	.	.	ENSG00000160410	ENST00000291842;ENST00000446701	T	0.51817	0.69	4.21	4.21	0.49690	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.83852	2.665	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999;0.998	D;D;D;D;D;D	0.91635	0.991;0.999;0.994;0.994;0.996;0.987	T	0.74763	-0.3555	10	0.87932	D	0	-21.3628	12.4151	0.55490	1.0:0.0:0.0:0.0	.	350;252;395;309;472;472	B4DLI0;B4DUW2;B4DUV2;B3KVX8;B2R6W9;Q8TBC3	.;.;.;.;.;SHKB1_HUMAN	P	472;252	ENSP00000291842:T472P	ENSP00000291842:T472P	T	+	1	0	SHKBP1	45786447	1.000000	0.71417	0.958000	0.39756	0.828000	0.46876	8.646000	0.91053	1.773000	0.52216	0.379000	0.24179	ACC	SHKBP1	-	superfamily_WD40_repeat_dom	ENSG00000160410		0.612	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	95	0.00	0	A	NM_138392		41094607	41094607	+1	no_errors	ENST00000291842	ensembl	human	known	69_37n	missense	78	15.96	15	SNP	1.000	C
SHROOM3	57619	genome.wustl.edu	37	4	77660025	77660025	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:77660025A>C	ENST00000296043.6	+	5	1652	c.699A>C	c.(697-699)ccA>ccC	p.P233P	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	233					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGGCATACCCACCCTGTCATC	0.572																																						dbGAP											0													79.0	80.0	80.0					4																	77660025		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.699A>C	4.37:g.77660025A>C			Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P233	ENST00000296043.6	37	c.699	CCDS3579.2	4																																																																																			SHROOM3	-	NULL	ENSG00000138771		0.572	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	85	0.00	0	A	NM_020859		77660025	77660025	+1	no_errors	ENST00000296043	ensembl	human	known	69_37n	silent	56	25.00	19	SNP	0.222	C
SIL1	64374	genome.wustl.edu	37	5	138456756	138456756	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:138456756T>G	ENST00000394817.2	-	3	351	c.212A>C	c.(211-213)cAc>cCc	p.H71P	SIL1_ENST00000265195.5_Missense_Mutation_p.H71P|SIL1_ENST00000509534.1_Missense_Mutation_p.H78P	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	71	Interaction with HSPA5 and localization to the endoplasmic reticulum. {ECO:0000250}.				intracellular protein transport (GO:0006886)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGCGTCGGGTGGAACACCTC	0.537									Marinesco-Sjgren syndrome																													dbGAP											0													115.0	118.0	117.0					5																	138456756		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Marinesco-Sjogren syndrome	AK075177	CCDS4209.1	5q31	2013-08-21	2013-08-21		ENSG00000120725	ENSG00000120725			24624	protein-coding gene	gene with protein product		608005	"""Marinesco-Sjogren syndrome"", ""SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae)"""	MSS		11101517, 12356756, 16282977	Standard	XM_006714671		Approved	BAP, ULG5	uc003ldp.3	Q9H173	OTTHUMG00000129226	ENST00000394817.2:c.212A>C	5.37:g.138456756T>G	ENSP00000378294:p.His71Pro		D3DQC2|Q8N2L3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.H71P	ENST00000394817.2	37	c.212	CCDS4209.1	5	.	.	.	.	.	.	.	.	.	.	T	11.59	1.683223	0.29872	.	.	ENSG00000120725	ENST00000394817;ENST00000265195;ENST00000537511;ENST00000509534;ENST00000508639;ENST00000513453;ENST00000507002;ENST00000505830;ENST00000505353	T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09;-0.09	5.19	5.19	0.71726	.	0.702099	0.14828	N	0.296073	T	0.48390	0.1497	L	0.29908	0.895	0.27946	N	0.937322	B;B	0.31790	0.34;0.037	B;B	0.25140	0.058;0.058	T	0.43065	-0.9414	10	0.34782	T	0.22	-1.4115	12.5305	0.56111	0.0:0.0:0.0:1.0	.	78;71	D6REA1;Q9H173	.;SIL1_HUMAN	P	71;71;50;78;71;71;81;81;71	ENSP00000378294:H71P;ENSP00000265195:H71P;ENSP00000426858:H78P;ENSP00000427371:H71P;ENSP00000424014:H71P;ENSP00000421890:H81P;ENSP00000426460:H81P;ENSP00000423662:H71P	ENSP00000265195:H71P	H	-	2	0	SIL1	138484655	0.999000	0.42202	0.952000	0.39060	0.255000	0.26057	2.862000	0.48388	2.168000	0.68352	0.459000	0.35465	CAC	SIL1	-	NULL	ENSG00000120725		0.537	SIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIL1	HGNC	protein_coding	OTTHUMT00000251319.1	206	0.96	2	T	NM_022464		138456756	138456756	-1	no_errors	ENST00000265195	ensembl	human	known	69_37n	missense	140	14.20	24	SNP	0.994	G
SIM1	6492	genome.wustl.edu	37	6	100895273	100895273	+	Missense_Mutation	SNP	A	A	C	rs202065103		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:100895273A>C	ENST00000369208.3	-	9	1651	c.869T>G	c.(868-870)gTg>gGg	p.V290G	SIM1_ENST00000262901.4_Missense_Mutation_p.V290G			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	290					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTTGGTGGTCACCTGTCCCTT	0.592																																						dbGAP											0													133.0	101.0	112.0					6																	100895273		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.869T>G	6.37:g.100895273A>C	ENSP00000358210:p.Val290Gly		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd	p.V290G	ENST00000369208.3	37	c.869	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	A	24.4	4.524164	0.85600	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.19532	2.14;2.14	6.02	6.02	0.97574	PAS fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	M	0.75884	2.315	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.26360	-1.0105	10	0.56958	D	0.05	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	290	P81133	SIM1_HUMAN	G	290	ENSP00000358210:V290G;ENSP00000262901:V290G	ENSP00000262901:V290G	V	-	2	0	SIM1	101001994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.576000	0.82467	2.311000	0.77944	0.533000	0.62120	GTG	SIM1	-	pfam_PAS_fold_3	ENSG00000112246		0.592	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	156	0.63	1	A	NM_005068		100895273	100895273	-1	no_errors	ENST00000262901	ensembl	human	known	69_37n	missense	104	17.32	22	SNP	1.000	C
SIM2	6493	genome.wustl.edu	37	21	38117439	38117439	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:38117439T>G	ENST00000290399.6	+	10	2189		c.e10+2		SIM2_ENST00000430056.3_Silent_p.G526G	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2						cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCTACGAAGGTGGGTCAGGTC	0.632																																						dbGAP											0													26.0	25.0	25.0					21																	38117439		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0				CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.1576+2T>G	21.37:g.38117439T>G			O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Splice_Site	SNP	-	e10+2	ENST00000290399.6	37	c.1576+2	CCDS13646.1	21	.	.	.	.	.	.	.	.	.	.	T	15.42	2.827836	0.50845	.	.	ENSG00000159263	ENST00000290399;ENST00000431229;ENST00000481730	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5752	0.68240	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIM2	37039309	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	5.366000	0.66122	1.893000	0.54813	0.456000	0.33151	.	SIM2	-	-	ENSG00000159263		0.632	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM2	HGNC	protein_coding	OTTHUMT00000194692.1	73	0.00	0	T	NM_009586	Intron	38117439	38117439	+1	no_errors	ENST00000290399	ensembl	human	known	69_37n	splice_site	37	19.57	9	SNP	1.000	G
SIN3A	25942	genome.wustl.edu	37	15	75705122	75705122	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:75705122T>G	ENST00000394947.3	-	5	1052	c.738A>C	c.(736-738)ccA>ccC	p.P246P	SIN3A_ENST00000360439.4_Silent_p.P246P|SIN3A_ENST00000394949.4_Silent_p.P246P	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTTTGGCAGGTGggggctgag	0.542																																						dbGAP											0													75.0	71.0	73.0					15																	75705122		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.738A>C	15.37:g.75705122T>G				Silent	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.P246	ENST00000394947.3	37	c.738	CCDS10279.1	15																																																																																			SIN3A	-	NULL	ENSG00000169375		0.542	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	290	0.00	0	T	NM_015477		75705122	75705122	-1	no_errors	ENST00000360439	ensembl	human	known	69_37n	silent	268	13.69	43	SNP	1.000	G
SIN3A	25942	genome.wustl.edu	37	15	75705149	75705149	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:75705149A>G	ENST00000394947.3	-	5	1025	c.711T>C	c.(709-711)gcT>gcC	p.A237A	SIN3A_ENST00000360439.4_Silent_p.A237A|SIN3A_ENST00000394949.4_Silent_p.A237A	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						gctgggcaggagctggggctg	0.572																																						dbGAP											0													98.0	86.0	90.0					15																	75705149		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.711T>C	15.37:g.75705149A>G				Silent	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.A237	ENST00000394947.3	37	c.711	CCDS10279.1	15																																																																																			SIN3A	-	NULL	ENSG00000169375		0.572	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	352	0.56	2	A	NM_015477		75705149	75705149	-1	no_errors	ENST00000360439	ensembl	human	known	69_37n	silent	318	10.64	38	SNP	1.000	G
SIPA1	6494	genome.wustl.edu	37	11	65417952	65417952	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:65417952T>G	ENST00000394224.3	+	15	3278		c.e15+2		SIPA1_ENST00000534313.1_Splice_Site|SIPA1_ENST00000527525.1_Splice_Site|SIPA1_ENST00000394227.3_Splice_Site|MIR4489_ENST00000578869.1_RNA	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1						cell proliferation (GO:0008283)|cellular response to water deprivation (GO:0042631)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|signal transduction (GO:0007165)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)|transport vesicle (GO:0030133)	GTPase activator activity (GO:0005096)|Rap GTPase activator activity (GO:0046582)			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTGCAGAAGGTGAGGGGTGGG	0.637																																						dbGAP											0													42.0	47.0	45.0					11																	65417952		2201	4297	6498	-	-	-	SO:0001630	splice_region_variant	0			AH006363, BC010492, BM677738	CCDS8108.1	11q13.3	2008-09-12	2008-09-12		ENSG00000213445	ENSG00000213445			10885	protein-coding gene	gene with protein product		602180				9027487	Standard	NM_006747		Approved	SPA1	uc001ofb.2	Q96FS4	OTTHUMG00000166541	ENST00000394224.3:c.2982+2T>G	11.37:g.65417952T>G			O14518|O60484|O60618|Q2YD83	Splice_Site	SNP	-	e14+2	ENST00000394224.3	37	c.2982+2	CCDS8108.1	11	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535092	0.64972	.	.	ENSG00000213445	ENST00000534313;ENST00000527525;ENST00000394224;ENST00000394227	.	.	.	4.39	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9933	0.41885	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SIPA1	65174528	1.000000	0.71417	0.997000	0.53966	0.858000	0.48976	6.372000	0.73123	1.621000	0.50320	0.260000	0.18958	.	SIPA1	-	-	ENSG00000213445		0.637	SIPA1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SIPA1	HGNC	protein_coding	OTTHUMT00000390356.1	67	0.00	0	T	NM_006747	Intron	65417952	65417952	+1	no_errors	ENST00000394224	ensembl	human	known	69_37n	splice_site	59	18.67	14	SNP	1.000	G
SIPA1L3	23094	genome.wustl.edu	37	19	38673348	38673348	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:38673348A>C	ENST00000222345.6	+	16	4907	c.4398A>C	c.(4396-4398)ccA>ccC	p.P1466P	CTB-102L5.7_ENST00000594299.1_RNA	NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1466					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)			AGGAGCCCCCACCACGGCCAC	0.632																																						dbGAP											0													38.0	46.0	44.0					19																	38673348		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.4398A>C	19.37:g.38673348A>C			Q2TV87	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.P1466	ENST00000222345.6	37	c.4398	CCDS33007.1	19																																																																																			SIPA1L3	-	NULL	ENSG00000105738		0.632	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	97	0.00	0	A	XM_032278		38673348	38673348	+1	no_errors	ENST00000222345	ensembl	human	known	69_37n	silent	53	24.29	17	SNP	0.005	C
SIRPG	55423	genome.wustl.edu	37	20	1616206	1616206	+	Missense_Mutation	SNP	A	A	C	rs6043409	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:1616206A>C	ENST00000303415.3	-	4	852	c.788T>G	c.(787-789)gTg>gGg	p.V263G	RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000381580.1_Missense_Mutation_p.V230G|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Intron	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	263	Ig-like C1-type 2.		V -> A (in dbSNP:rs6043409). {ECO:0000269|PubMed:11185750}.		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						CTGGTTCCCCACCCTCATGGG	0.552																																						dbGAP											0													87.0	79.0	82.0					20																	1616206		2203	4300	6503	-	-	-	SO:0001583	missense	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.788T>G	20.37:g.1616206A>C	ENSP00000305529:p.Val263Gly		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	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.V263G	ENST00000303415.3	37	c.788	CCDS13020.2	20	.	.	.	.	.	.	.	.	.	.	.	6.883	0.532416	0.13127	.	.	ENSG00000089012	ENST00000381580;ENST00000303415	T;T	0.00612	6.22;6.22	1.41	-0.896	0.10557	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	2.385700	0.01807	N	0.033218	T	0.00608	0.0020	L	0.28192	0.835	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.50083	-0.8869	9	0.33141	T	0.24	.	0.4872	0.00558	0.19:0.2404:0.3269:0.2427	.	263	Q9P1W8	SIRPG_HUMAN	G	230;263	ENSP00000370992:V230G;ENSP00000305529:V263G	ENSP00000305529:V263G	V	-	2	0	SIRPG	1564206	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	0.362000	0.20284	-0.747000	0.04759	-1.063000	0.02288	GTG	SIRPG	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000089012		0.552	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPG	HGNC	protein_coding	OTTHUMT00000077566.2	127	0.00	0	A	NM_018556		1616206	1616206	-1	no_errors	ENST00000303415	ensembl	human	known	69_37n	missense	156	12.78	23	SNP	0.000	C
SKOR1	390598	genome.wustl.edu	37	15	68118486	68118486	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:68118486T>C	ENST00000380035.2	+	2	378	c.320T>C	c.(319-321)cTc>cCc	p.L107P	SKOR1_ENST00000341418.5_Missense_Mutation_p.L293P|SKOR1_ENST00000554054.1_Missense_Mutation_p.L79P|SKOR1_ENST00000389002.1_Missense_Mutation_p.L98P|SKOR1_ENST00000554240.1_Missense_Mutation_p.L68P			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	107					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TCCAACACCCTCCTCAAGAAC	0.627																																						dbGAP											0													87.0	80.0	83.0					15																	68118486		2200	4298	6498	-	-	-	SO:0001583	missense	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.320T>C	15.37:g.68118486T>C	ENSP00000369374:p.Leu107Pro		A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.L107P	ENST00000380035.2	37	c.320		15	.	.	.	.	.	.	.	.	.	.	T	19.90	3.913551	0.72983	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000003	D	0.91133	0.7208	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92087	0.5677	10	0.87932	D	0	-22.1499	13.2412	0.59997	0.0:0.0:0.0:1.0	.	98	P84550-3	.	P	293;68;79;107;98	ENSP00000343200:L293P;ENSP00000451193:L68P;ENSP00000452361:L79P;ENSP00000369374:L107P;ENSP00000373654:L98P	ENSP00000343200:L293P	L	+	2	0	SKOR1	65905540	1.000000	0.71417	0.995000	0.50966	0.980000	0.70556	7.919000	0.87513	1.802000	0.52723	0.459000	0.35465	CTC	SKOR1	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	ENSG00000188779		0.627	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	58	0.00	0	T	NM_001031807		68118486	68118486	+1	no_errors	ENST00000380035	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	1.000	C
SLC12A5	57468	genome.wustl.edu	37	20	44664504	44664504	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:44664504T>G	ENST00000454036.2	+	4	486	c.437T>G	c.(436-438)gTg>gGg	p.V146G	SLC12A5_ENST00000243964.3_Missense_Mutation_p.V123G|SLC12A5_ENST00000608944.1_Missense_Mutation_p.V72G|SLC12A5_ENST00000372315.1_Missense_Mutation_p.V123G	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	146					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCACCTGGGTGGTGGGCATT	0.627																																						dbGAP											0													178.0	127.0	144.0					20																	44664504		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.437T>G	20.37:g.44664504T>G	ENSP00000387694:p.Val146Gly		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.V146G	ENST00000454036.2	37	c.437	CCDS46610.1	20	.	.	.	.	.	.	.	.	.	.	T	25.6	4.654299	0.88056	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	4.63	4.63	0.57726	Amino acid permease domain (1);	0.161338	0.44285	D	0.000467	D	0.99086	0.9686	M	0.86805	2.84	0.80722	D	1	P;B;P	0.44734	0.842;0.13;0.596	P;B;P	0.55667	0.723;0.265;0.781	D	0.99301	1.0901	10	0.87932	D	0	.	13.0013	0.58676	0.0:0.0:0.0:1.0	.	146;123;123	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	G	146;123;123;123	ENSP00000387694:V146G;ENSP00000361389:V123G;ENSP00000446091:V123G;ENSP00000243964:V123G	ENSP00000243964:V123G	V	+	2	0	SLC12A5	44097911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.865000	0.87049	1.948000	0.56530	0.454000	0.30748	GTG	SLC12A5	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.627	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1	130	0.76	1	T			44664504	44664504	+1	no_errors	ENST00000454036	ensembl	human	known	69_37n	missense	178	11.82	24	SNP	1.000	G
SLC13A2	9058	genome.wustl.edu	37	17	26818809	26818809	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:26818809A>C	ENST00000314669.5	+	6	1237	c.817A>C	c.(817-819)Acc>Ccc	p.T273P	SLC13A2_ENST00000537681.1_Missense_Mutation_p.T202P|SLC13A2_ENST00000545060.1_Missense_Mutation_p.T230P|SLC13A2_ENST00000444914.3_Missense_Mutation_p.T322P	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	273					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CGCCTTCCCCACCATGGTCAT	0.587																																						dbGAP											0													170.0	150.0	157.0					17																	26818809		2203	4300	6503	-	-	-	SO:0001583	missense	0			U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.817A>C	17.37:g.26818809A>C	ENSP00000316202:p.Thr273Pro		B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.T322P	ENST00000314669.5	37	c.964	CCDS11231.1	17	.	.	.	.	.	.	.	.	.	.	A	17.62	3.436024	0.62955	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.02787	4.16;4.16;4.16;4.16	5.66	-0.929	0.10444	.	0.233767	0.49916	D	0.000122	T	0.06325	0.0163	L	0.50847	1.595	0.35111	D	0.766131	D;B;B;D;B	0.55800	0.973;0.004;0.01;0.973;0.022	P;B;B;P;B	0.62089	0.898;0.076;0.048;0.847;0.076	T	0.36866	-0.9730	10	0.33141	T	0.24	-22.445	6.5357	0.22352	0.6074:0.1154:0.2772:0.0	.	230;322;229;202;273	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	P	273;322;230;229;202	ENSP00000316202:T273P;ENSP00000392411:T322P;ENSP00000441935:T230P;ENSP00000440802:T202P	ENSP00000316202:T273P	T	+	1	0	SLC13A2	23842936	0.783000	0.28701	0.174000	0.22961	0.996000	0.88848	1.998000	0.40796	-0.165000	0.10908	0.455000	0.32223	ACC	SLC13A2	-	pfam_Na/sul_symport	ENSG00000007216		0.587	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A2	HGNC	protein_coding	OTTHUMT00000255722.1	222	0.88	2	A	NM_003984		26818809	26818809	+1	no_errors	ENST00000444914	ensembl	human	known	69_37n	missense	211	10.13	24	SNP	0.978	C
SLC14A1	6563	genome.wustl.edu	37	18	43314276	43314276	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:43314276A>C	ENST00000321925.4	+	5	611	c.379A>C	c.(379-381)Acc>Ccc	p.T127P	RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000535474.1_5'UTR|SLC14A1_ENST00000586142.1_Missense_Mutation_p.T127P|SLC14A1_ENST00000502059.2_Missense_Mutation_p.T19P|SLC14A1_ENST00000589700.1_Missense_Mutation_p.T127P|SLC14A1_ENST00000436407.3_Missense_Mutation_p.T183P|SLC14A1_ENST00000415427.3_Missense_Mutation_p.T183P|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000402943.2_Missense_Mutation_p.T22P	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1 (Kidd blood group)	127					transmembrane transport (GO:0055085)|urea transmembrane transport (GO:0071918)|urea transport (GO:0015840)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	urea channel activity (GO:0015265)|urea transmembrane transporter activity (GO:0015204)|water transmembrane transporter activity (GO:0005372)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CTACAATGCCACCCTGGTGGG	0.493																																						dbGAP											0													177.0	158.0	164.0					18																	43314276		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040128	CCDS11925.1, CCDS45860.1	18q11-q12	2014-07-19	2014-01-02		ENSG00000141469	ENSG00000141469		"""Blood group antigens"", ""Solute carriers"""	10918	protein-coding gene	gene with protein product		613868	"""Kidd blood group"", ""solute carrier family 14 (urea transporter), member 1"""	JK		7797558	Standard	NM_001146037		Approved	HsT1341, RACH1, RACH2	uc010dnk.3	Q13336	OTTHUMG00000132617	ENST00000321925.4:c.379A>C	18.37:g.43314276A>C	ENSP00000318546:p.Thr127Pro		A8K0P3|B3KR62|B3KVX3|C9EHF2|Q86VM5	Missense_Mutation	SNP	pfam_Urea_transporter	p.T183P	ENST00000321925.4	37	c.547	CCDS11925.1	18	.	.	.	.	.	.	.	.	.	.	A	22.3	4.275933	0.80580	.	.	ENSG00000141469	ENST00000321925;ENST00000415427;ENST00000502059;ENST00000402943;ENST00000436407	T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71	5.46	5.46	0.80206	.	0.060777	0.64402	D	0.000004	T	0.65375	0.2685	M	0.79926	2.475	0.80722	D	1	D;D;D	0.63880	0.993;0.973;0.984	P;P;P	0.62649	0.858;0.905;0.861	T	0.69379	-0.5161	10	0.59425	D	0.04	-26.2029	9.7816	0.40651	0.8768:0.0:0.1232:0.0	.	183;19;127	Q13336-2;B3KXJ3;Q13336	.;.;UT1_HUMAN	P	127;183;19;22;183	ENSP00000318546:T127P;ENSP00000412309:T183P;ENSP00000442180:T19P;ENSP00000385320:T22P;ENSP00000390637:T183P	ENSP00000318546:T127P	T	+	1	0	SLC14A1	41568274	0.956000	0.32656	1.000000	0.80357	0.987000	0.75469	3.071000	0.50041	2.079000	0.62486	0.482000	0.46254	ACC	SLC14A1	-	pfam_Urea_transporter	ENSG00000141469		0.493	SLC14A1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC14A1	HGNC	protein_coding	OTTHUMT00000255860.2	246	0.00	0	A	NM_015865		43314276	43314276	+1	no_errors	ENST00000415427	ensembl	human	known	69_37n	missense	269	10.33	31	SNP	1.000	C
SLC16A9	220963	genome.wustl.edu	37	10	61444009	61444009	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:61444009A>C	ENST00000395348.3	-	2	677	c.41T>G	c.(40-42)gTg>gGg	p.V14G	SLC16A9_ENST00000490066.1_5'UTR|SLC16A9_ENST00000395347.1_Missense_Mutation_p.V14G	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	14					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						AAACACAATCACCCAGCCCCA	0.453																																						dbGAP											0													153.0	140.0	144.0					10																	61444009		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.41T>G	10.37:g.61444009A>C	ENSP00000378757:p.Val14Gly		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V14G	ENST00000395348.3	37	c.41	CCDS7256.1	10	.	.	.	.	.	.	.	.	.	.	A	20.4	3.977851	0.74360	.	.	ENSG00000165449	ENST00000395348;ENST00000395347;ENST00000490066	T;T	0.80994	-1.44;-1.44	5.33	5.33	0.75918	Major facilitator superfamily domain, general substrate transporter (1);	0.273840	0.36234	N	0.002708	D	0.84479	0.5481	M	0.84683	2.71	0.80722	D	1	P	0.35493	0.505	B	0.39617	0.305	D	0.86604	0.1868	10	0.87932	D	0	.	15.2955	0.73902	1.0:0.0:0.0:0.0	.	14	Q7RTY1	MOT9_HUMAN	G	14	ENSP00000378757:V14G;ENSP00000378756:V14G	ENSP00000378756:V14G	V	-	2	0	SLC16A9	61114015	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.383000	0.59600	2.014000	0.59158	0.533000	0.62120	GTG	SLC16A9	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000165449		0.453	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A9	HGNC	protein_coding	OTTHUMT00000048174.2	206	0.48	1	A	NM_194298		61444009	61444009	-1	no_errors	ENST00000395347	ensembl	human	known	69_37n	missense	145	21.62	40	SNP	1.000	C
SLC22A18	5002	genome.wustl.edu	37	11	2929517	2929517	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:2929517A>C	ENST00000380574.1	+	3	630	c.199A>C	c.(199-201)Acc>Ccc	p.T67P	SLC22A18_ENST00000312221.5_Missense_Mutation_p.T67P|SLC22A18_ENST00000347936.2_Missense_Mutation_p.T67P|SLC22A18_ENST00000449793.2_Missense_Mutation_p.T67P			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	67					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTGCAAACCACCTTCGGGGT	0.622																																						dbGAP											0													80.0	77.0	78.0					11																	2929517		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.199A>C	11.37:g.2929517A>C	ENSP00000369948:p.Thr67Pro		O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.T67P	ENST00000380574.1	37	c.199	CCDS7740.1	11	.	.	.	.	.	.	.	.	.	.	A	6.945	0.544131	0.13312	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574;ENST00000485423	T;T;T;T;T	0.81163	0.32;0.32;0.42;0.32;-1.46	3.75	-0.339	0.12647	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.471664	0.20620	N	0.088796	D	0.82370	0.5022	M	0.65498	2.005	0.09310	N	1	P;D	0.53462	0.94;0.96	B;P	0.61003	0.202;0.882	T	0.70876	-0.4753	10	0.51188	T	0.08	-9.814	4.3245	0.11034	0.4727:0.4093:0.118:0.0	.	67;67	E9PRM7;Q96BI1	.;S22AI_HUMAN	P	67	ENSP00000307859:T67P;ENSP00000311139:T67P;ENSP00000392072:T67P;ENSP00000369948:T67P;ENSP00000433019:T67P	ENSP00000311139:T67P	T	+	1	0	SLC22A18	2886093	0.001000	0.12720	0.000000	0.03702	0.017000	0.09413	0.604000	0.24164	0.149000	0.19098	0.402000	0.26972	ACC	SLC22A18	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	ENSG00000110628		0.622	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC22A18	HGNC	protein_coding	OTTHUMT00000027770.1	127	0.00	0	A	NM_183233		2929517	2929517	+1	no_errors	ENST00000312221	ensembl	human	known	69_37n	missense	98	24.24	32	SNP	0.000	C
SLC22A8	9376	genome.wustl.edu	37	11	62761320	62761320	+	Missense_Mutation	SNP	A	A	C	rs74582099		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:62761320A>C	ENST00000336232.2	-	9	1382	c.1247T>G	c.(1246-1248)gTg>gGg	p.V416G	SLC22A8_ENST00000311438.8_Missense_Mutation_p.V416G|SLC22A8_ENST00000545207.1_Missense_Mutation_p.V325G|SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000535878.1_Missense_Mutation_p.V293G|SLC22A8_ENST00000430500.2_Missense_Mutation_p.V416G	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	416					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)	CTTCCCAAACACAGCCAATAC	0.527																																						dbGAP											0													96.0	88.0	91.0					11																	62761320		2201	4298	6499	-	-	-	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.1247T>G	11.37:g.62761320A>C	ENSP00000337335:p.Val416Gly		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.V416G	ENST00000336232.2	37	c.1247	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111789	0.77210	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81805	0.4900	M	0.71296	2.17	0.80722	D	1	P;P	0.45428	0.858;0.757	P;P	0.53266	0.482;0.722	D	0.83909	0.0294	10	0.87932	D	0	.	14.2679	0.66133	1.0:0.0:0.0:0.0	.	416;416	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	G	416;402;325;293;416;416	ENSP00000337335:V416G;ENSP00000441658:V325G;ENSP00000443368:V293G;ENSP00000311463:V416G;ENSP00000398548:V416G	ENSP00000311463:V416G	V	-	2	0	SLC22A8	62517896	0.978000	0.34361	0.998000	0.56505	0.804000	0.45430	4.612000	0.61169	2.254000	0.74563	0.533000	0.62120	GTG	SLC22A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000149452		0.527	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	HGNC	protein_coding	OTTHUMT00000396191.1	173	0.00	0	A	NM_004254		62761320	62761320	-1	no_errors	ENST00000336232	ensembl	human	known	69_37n	missense	102	13.45	16	SNP	1.000	C
SLC22A8	9376	genome.wustl.edu	37	11	62767238	62767238	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:62767238T>G	ENST00000336232.2	-	4	649	c.514A>C	c.(514-516)Acc>Ccc	p.T172P	SLC22A8_ENST00000311438.8_Missense_Mutation_p.T172P|SLC22A8_ENST00000545207.1_Missense_Mutation_p.T81P|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000535878.1_Missense_Mutation_p.T49P|SLC22A8_ENST00000430500.2_Missense_Mutation_p.T172P	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	172					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)	ATGGGGAAGGTGGGGCTGAAG	0.617																																						dbGAP											0													67.0	69.0	68.0					11																	62767238		2201	4298	6499	-	-	-	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.514A>C	11.37:g.62767238T>G	ENSP00000337335:p.Thr172Pro		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.T172P	ENST00000336232.2	37	c.514	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641388	0.47153	.	.	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.45	1.77	0.24775	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.669220	0.16024	N	0.233184	T	0.68879	0.3049	M	0.86178	2.8	0.30158	N	0.802425	P;P	0.48230	0.886;0.907	P;P	0.57009	0.708;0.811	T	0.65278	-0.6207	10	0.62326	D	0.03	.	4.2512	0.10695	0.3101:0.0851:0.0:0.6047	.	172;172	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	P	172;158;81;49;172;172	ENSP00000337335:T172P;ENSP00000441658:T81P;ENSP00000443368:T49P;ENSP00000311463:T172P;ENSP00000398548:T172P	ENSP00000311463:T172P	T	-	1	0	SLC22A8	62523814	0.475000	0.25894	0.488000	0.27440	0.388000	0.30384	0.531000	0.23052	0.042000	0.15717	-0.732000	0.03574	ACC	SLC22A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000149452		0.617	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	HGNC	protein_coding	OTTHUMT00000396191.1	115	0.85	1	T	NM_004254		62767238	62767238	-1	no_errors	ENST00000336232	ensembl	human	known	69_37n	missense	38	21.57	11	SNP	0.922	G
SLC22A11	55867	genome.wustl.edu	37	11	64332745	64332745	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:64332745T>G	ENST00000301891.4	+	6	1368	c.994T>G	c.(994-996)Tcg>Gcg	p.S332A	SLC22A11_ENST00000377581.3_Missense_Mutation_p.S332A|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377585.3_Missense_Mutation_p.S332A	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	332					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GGAGCCGCGGTCGGTGCTGGA	0.662																																						dbGAP											0													111.0	79.0	90.0					11																	64332745		2166	4200	6366	-	-	-	SO:0001583	missense	0			AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.994T>G	11.37:g.64332745T>G	ENSP00000301891:p.Ser332Ala		A8K426|Q53GR2|Q6ZP72|Q8NBU4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S332A	ENST00000301891.4	37	c.994	CCDS8074.1	11	.	.	.	.	.	.	.	.	.	.	T	13.12	2.142094	0.37825	.	.	ENSG00000168065	ENST00000301891;ENST00000377585;ENST00000377581	T;T;T	0.76186	-1.0;-1.0;-1.0	3.13	-4.51	0.03483	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.250250	0.33057	N	0.005327	T	0.81230	0.4779	M	0.92459	3.31	0.09310	N	1	D;D;P;P;B	0.61697	0.979;0.99;0.707;0.544;0.376	P;D;B;B;B	0.63877	0.743;0.919;0.317;0.199;0.179	T	0.71251	-0.4648	10	0.87932	D	0	.	0.0959	0.00044	0.3309:0.2282:0.1685:0.2725	.	332;126;332;332;257	Q9NSA0-2;Q8NBZ3;A6NCG2;Q9NSA0;B4DJH6	.;.;.;S22AB_HUMAN;.	A	332	ENSP00000301891:S332A;ENSP00000366809:S332A;ENSP00000366804:S332A	ENSP00000301891:S332A	S	+	1	0	SLC22A11	64089321	0.033000	0.19621	0.000000	0.03702	0.000000	0.00434	0.555000	0.23422	-0.979000	0.03529	-0.451000	0.05528	TCG	SLC22A11	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000168065		0.662	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A11	HGNC	protein_coding	OTTHUMT00000104886.4	137	0.72	1	T	NM_018484		64332745	64332745	+1	no_errors	ENST00000301891	ensembl	human	known	69_37n	missense	73	17.05	15	SNP	0.000	G
SLC23A3	151295	genome.wustl.edu	37	2	220034363	220034363	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:220034363T>G	ENST00000409878.3	-	2	232	c.200A>C	c.(199-201)cAc>cCc	p.H67P	SLC23A3_ENST00000455516.2_Missense_Mutation_p.H67P|SLC23A3_ENST00000396775.3_Missense_Mutation_p.H9P|SLC23A3_ENST00000295738.7_Missense_Mutation_p.H67P	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	67					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGAGCAGGTGGGAGACACA	0.532																																						dbGAP											0													63.0	81.0	75.0					2																	220034363		2070	4211	6281	-	-	-	SO:0001583	missense	0			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.200A>C	2.37:g.220034363T>G	ENSP00000386473:p.His67Pro		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.H67P	ENST00000409878.3	37	c.200	CCDS46518.1	2	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454414	0.43634	.	.	ENSG00000213901	ENST00000396775;ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	T;T;T;T;T	0.35605	3.68;3.68;3.68;3.68;1.3	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000004	T	0.41949	0.1181	N	0.13327	0.33	0.48762	D	0.999702	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.85130	0.977;0.977;0.997	T	0.33394	-0.9870	9	.	.	.	.	14.8704	0.70453	0.0:0.0:0.0:1.0	.	67;67;67	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	P	9;67;67;67;67;67	ENSP00000295738:H67P;ENSP00000386473:H67P;ENSP00000406546:H67P;ENSP00000386989:H67P;ENSP00000388907:H67P	.	H	-	2	0	SLC23A3	219742607	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.511000	0.53400	2.186000	0.69663	0.533000	0.62120	CAC	SLC23A3	-	pfam_Xant/urac/vitC	ENSG00000213901		0.532	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC23A3	HGNC	protein_coding	OTTHUMT00000336331.2	215	0.91	2	T	NM_144712		220034363	220034363	-1	no_errors	ENST00000455516	ensembl	human	known	69_37n	missense	76	13.48	12	SNP	1.000	G
SLC23A3	151295	genome.wustl.edu	37	2	220034597	220034597	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:220034597T>G	ENST00000409878.3	-	1	142	c.110A>C	c.(109-111)gAc>gCc	p.D37A	SLC23A3_ENST00000455516.2_Missense_Mutation_p.D37A|SLC23A3_ENST00000396775.3_5'UTR|SLC23A3_ENST00000295738.7_Missense_Mutation_p.D37A	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	37					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACAAAGGGTCCCAAGAGTG	0.622																																						dbGAP											0													90.0	99.0	96.0					2																	220034597		2013	4174	6187	-	-	-	SO:0001583	missense	0			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.110A>C	2.37:g.220034597T>G	ENSP00000386473:p.Asp37Ala		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.D37A	ENST00000409878.3	37	c.110	CCDS46518.1	2	.	.	.	.	.	.	.	.	.	.	T	0.102	-1.150478	0.01700	.	.	ENSG00000213901	ENST00000295738;ENST00000409878;ENST00000455516;ENST00000409370;ENST00000430764	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	4.72	0.437	0.16555	.	0.687384	0.12647	N	0.450801	T	0.13543	0.0328	N	0.08118	0	0.23260	N	0.998024	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.22103	-1.0226	9	.	.	.	.	1.0945	0.01670	0.1871:0.1246:0.3049:0.3834	.	37;37;37	Q6PIS1;B7Z512;Q6PIS1-2	S23A3_HUMAN;.;.	A	37	ENSP00000295738:D37A;ENSP00000386473:D37A;ENSP00000406546:D37A;ENSP00000386989:D37A;ENSP00000388907:D37A	.	D	-	2	0	SLC23A3	219742841	0.000000	0.05858	0.011000	0.14972	0.001000	0.01503	-0.324000	0.07986	0.227000	0.20999	-1.096000	0.02151	GAC	SLC23A3	-	NULL	ENSG00000213901		0.622	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC23A3	HGNC	protein_coding	OTTHUMT00000336331.2	126	0.00	0	T	NM_144712		220034597	220034597	-1	no_errors	ENST00000455516	ensembl	human	known	69_37n	missense	115	11.45	15	SNP	0.033	G
SLC25A11	8402	genome.wustl.edu	37	17	4841316	4841316	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:4841316A>C	ENST00000225665.7	-	7	1130		c.e7+1		RNF167_ENST00000572430.1_5'Flank|SLC25A11_ENST00000544061.2_Splice_Site|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000575111.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11						alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGGCTTCCTCACCAGCCCGTT	0.617																																					Esophageal Squamous(144;1178 2388 18010 48797)	dbGAP											0													129.0	136.0	133.0					17																	4841316		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.789+1T>G	17.37:g.4841316A>C			F5GY65|O75537|Q969P7	Splice_Site	SNP	-	e7+2	ENST00000225665.7	37	c.789+2	CCDS11059.1	17	.	.	.	.	.	.	.	.	.	.	A	16.41	3.115166	0.56505	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1551	0.48482	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC25A11	4782061	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	8.174000	0.89682	2.130000	0.65690	0.533000	0.62120	.	SLC25A11	-	-	ENSG00000108528		0.617	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A11	HGNC	protein_coding	OTTHUMT00000216852.4	121	0.82	1	A	NM_003562	Intron	4841316	4841316	-1	no_errors	ENST00000225665	ensembl	human	known	69_37n	splice_site	150	14.20	25	SNP	1.000	C
SLC25A22	79751	genome.wustl.edu	37	11	792939	792939	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:792939T>G	ENST00000320230.5	-	6	824	c.343A>C	c.(343-345)Acc>Ccc	p.T115P	CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank|SLC25A22_ENST00000531214.1_Missense_Mutation_p.T115P	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	115					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTGGCAGGTGCCAGCCCCA	0.647																																					Colon(93;848 1468 3270 23355 49636)	dbGAP											0													44.0	37.0	40.0					11																	792939		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.343A>C	11.37:g.792939T>G	ENSP00000322020:p.Thr115Pro		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.T115P	ENST00000320230.5	37	c.343	CCDS7715.1	11	.	.	.	.	.	.	.	.	.	.	T	15.60	2.880404	0.51801	.	.	ENSG00000177542	ENST00000320230;ENST00000531214;ENST00000481290;ENST00000531437;ENST00000533385;ENST00000526152;ENST00000528606;ENST00000527723	T;T;T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.22;-1.22;-1.22	4.14	2.9	0.33743	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.85831	0.5788	M	0.78456	2.415	0.58432	D	0.999997	P	0.51653	0.947	P	0.59825	0.864	D	0.85453	0.1162	10	0.46703	T	0.11	-43.1737	9.5956	0.39571	0.1567:0.0:0.0:0.8433	.	115	Q9H936	GHC1_HUMAN	P	115;115;140;111;115;115;115;115	ENSP00000322020:T115P;ENSP00000437236:T115P;ENSP00000431829:T140P;ENSP00000435862:T111P;ENSP00000434287:T115P;ENSP00000436745:T115P;ENSP00000437045:T115P;ENSP00000434479:T115P	ENSP00000322020:T115P	T	-	1	0	SLC25A22	782939	1.000000	0.71417	0.999000	0.59377	0.563000	0.35712	3.114000	0.50383	1.648000	0.50643	0.482000	0.46254	ACC	SLC25A22	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000177542		0.647	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A22	HGNC	protein_coding	OTTHUMT00000257107.2	36	0.00	0	T			792939	792939	-1	no_errors	ENST00000320230	ensembl	human	known	69_37n	missense	28	30.00	12	SNP	0.998	G
SLC26A11	284129	genome.wustl.edu	37	17	78219000	78219000	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:78219000A>C	ENST00000361193.3	+	11	1322	c.1042A>C	c.(1042-1044)Acc>Ccc	p.T348P	SLC26A11_ENST00000411502.3_Missense_Mutation_p.T348P|SLC26A11_ENST00000572725.1_Missense_Mutation_p.T348P|SLC26A11_ENST00000546047.2_Missense_Mutation_p.T348P	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCCAGGTCTCACCAACATGTT	0.612																																						dbGAP											0													220.0	142.0	168.0					17																	78219000		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1042A>C	17.37:g.78219000A>C	ENSP00000355384:p.Thr348Pro			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.T348P	ENST00000361193.3	37	c.1042	CCDS11771.2	17	.	.	.	.	.	.	.	.	.	.	A	17.48	3.400829	0.62177	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.93366	-3.21;-3.21;-3.21	5.11	5.11	0.69529	Sulphate transporter (1);	0.046141	0.85682	D	0.000000	D	0.96947	0.9003	M	0.90705	3.14	0.80722	D	1	D	0.63046	0.992	D	0.67382	0.951	D	0.97394	0.9991	10	0.54805	T	0.06	-49.5063	14.852	0.70303	1.0:0.0:0.0:0.0	.	348	Q86WA9	S2611_HUMAN	P	348	ENSP00000403998:T348P;ENSP00000440724:T348P;ENSP00000355384:T348P	ENSP00000355384:T348P	T	+	1	0	SLC26A11	75833595	1.000000	0.71417	0.999000	0.59377	0.139000	0.21198	5.588000	0.67517	2.036000	0.60181	0.482000	0.46254	ACC	SLC26A11	-	pfam_Sulph_transpt	ENSG00000181045		0.612	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A11	HGNC	protein_coding	OTTHUMT00000257281.1	157	0.63	1	A			78219000	78219000	+1	no_errors	ENST00000361193	ensembl	human	known	69_37n	missense	232	13.38	36	SNP	1.000	C
SLC28A2	9153	genome.wustl.edu	37	15	45564454	45564454	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:45564454T>G	ENST00000347644.3	+	16	1713				CTD-2651B20.3_ENST00000560344.1_RNA|CTD-2651B20.3_ENST00000561404.1_RNA|SLC28A2_ENST00000560767.1_3'UTR	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2						nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	ATTGCCTTGGTGGGGAAAAGC	0.468																																					NSCLC(92;493 1501 26361 28917 47116)	dbGAP											0													31.0	33.0	32.0					15																	45564454		2198	4298	6496	-	-	-	SO:0001627	intron_variant	0			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1649-39T>G	15.37:g.45564454T>G			A8K7F9|O43239|Q52LZ0	RNA	SNP	-	NULL	ENST00000347644.3	37	NULL	CCDS10121.1	15																																																																																			SLC28A2	-	-	ENSG00000137860		0.468	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A2	HGNC	protein_coding	OTTHUMT00000254219.2	50	0.00	0	T	NM_004212		45564454	45564454	+1	no_errors	ENST00000560767	ensembl	human	known	69_37n	rna	33	29.79	14	SNP	0.001	G
SLC2A5	6518	genome.wustl.edu	37	1	9097666	9097666	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:9097666T>G	ENST00000377424.4	-	12	1664	c.1485A>C	c.(1483-1485)ccA>ccC	p.P495P	SLC2A5_ENST00000536305.1_Silent_p.P436P|SLC2A5_ENST00000535586.1_Silent_p.P380P	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	495					carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355)			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTGACAGGTGGAAGCTCTT	0.488																																						dbGAP											0													115.0	120.0	118.0					1																	9097666		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001820	CCDS99.1, CCDS44054.1	1p36.2	2013-05-22			ENSG00000142583	ENSG00000142583		"""Solute carriers"""	11010	protein-coding gene	gene with protein product		138230		GLUT5		9691177	Standard	NM_003039		Approved		uc001apo.3	P22732	OTTHUMG00000001771	ENST00000377424.4:c.1485A>C	1.37:g.9097666T>G			Q14770|Q5T977|Q8IVB3	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Fru_transpt_5,tigrfam_Sugar/inositol_transpt	p.P495	ENST00000377424.4	37	c.1485	CCDS99.1	1																																																																																			SLC2A5	-	NULL	ENSG00000142583		0.488	SLC2A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A5	HGNC	protein_coding	OTTHUMT00000004932.1	101	0.97	1	T	NM_003039		9097666	9097666	-1	no_errors	ENST00000377424	ensembl	human	known	69_37n	silent	79	21.00	21	SNP	0.000	G
SLC2A6	11182	genome.wustl.edu	37	9	136343518	136343518	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:136343518A>C	ENST00000371899.4	-	2	190	c.113T>G	c.(112-114)gTg>gGg	p.V38G	SLC2A6_ENST00000371897.4_Missense_Mutation_p.V38G|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	38					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGCCAGGAACACCCTTTTGTT	0.582																																						dbGAP											0													131.0	128.0	129.0					9																	136343518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.113T>G	9.37:g.136343518A>C	ENSP00000360966:p.Val38Gly		A6NNU6|Q5SXD7|Q8NCC2	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.V38G	ENST00000371899.4	37	c.113	CCDS6975.1	9	.	.	.	.	.	.	.	.	.	.	A	20.9	4.062471	0.76187	.	.	ENSG00000160326	ENST00000371897;ENST00000371899;ENST00000432868	T;T;T	0.58652	0.32;0.32;0.32	4.58	4.58	0.56647	Major facilitator superfamily domain, general substrate transporter (1);	0.137702	0.49305	D	0.000142	T	0.42899	0.1223	N	0.08118	0	0.58432	D	0.999997	P;P;P;P	0.48016	0.904;0.729;0.817;0.828	P;P;B;B	0.45794	0.493;0.493;0.424;0.322	T	0.53781	-0.8390	10	0.87932	D	0	.	13.1544	0.59509	1.0:0.0:0.0:0.0	.	38;38;38;38	B4DH85;F2Z2F6;Q9UGQ3-2;Q9UGQ3	.;.;.;GTR6_HUMAN	G	38	ENSP00000360964:V38G;ENSP00000360966:V38G;ENSP00000405124:V38G	ENSP00000360964:V38G	V	-	2	0	SLC2A6	135333339	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.575000	0.90766	1.696000	0.51158	0.482000	0.46254	GTG	SLC2A6	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Sugar/inositol_transpt	ENSG00000160326		0.582	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1	164	0.59	1	A	NM_017585		136343518	136343518	-1	no_errors	ENST00000371899	ensembl	human	known	69_37n	missense	98	15.52	18	SNP	1.000	C
SLC30A3	7781	genome.wustl.edu	37	2	27481074	27481074	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:27481074T>G	ENST00000233535.4	-	3	731	c.379A>C	c.(379-381)Acc>Ccc	p.T127P	SLC30A3_ENST00000447008.2_Missense_Mutation_p.T122P	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	127					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGACGGGTGGAGAGCCAG	0.632																																						dbGAP											0													63.0	66.0	65.0					2																	27481074		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.379A>C	2.37:g.27481074T>G	ENSP00000233535:p.Thr127Pro		Q8TC03	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.T127P	ENST00000233535.4	37	c.379	CCDS1743.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.04|15.04	2.714578|2.714578	0.48622|0.48622	.|.	.|.	ENSG00000115194|ENSG00000115194	ENST00000445870|ENST00000233535;ENST00000447008;ENST00000432351;ENST00000426924;ENST00000424577;ENST00000450118;ENST00000426569	.|T;T;T;T;T;T;T	.|0.64438	.|-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.51|5.51	1.77|1.77	0.24775|0.24775	.|.	.|0.163106	.|0.56097	.|D	.|0.000034	T|T	0.63965|0.63965	0.2556|0.2556	L|L	0.54965|0.54965	1.715|1.715	0.36982|0.36982	D|D	0.894341|0.894341	.|P;P	.|0.52463	.|0.886;0.953	.|P;P	.|0.56865	.|0.708;0.808	T|T	0.66244|0.66244	-0.5972|-0.5972	5|10	.|0.72032	.|D	.|0.01	-22.7747|-22.7747	4.3986|4.3986	0.11376|0.11376	0.1479:0.1645:0.0:0.6876|0.1479:0.1645:0.0:0.6876	.|.	.|122;127	.|F5H3B7;Q99726	.|.;ZNT3_HUMAN	P|P	115|127;122;78;114;105;78;78	.|ENSP00000233535:T127P;ENSP00000415226:T122P;ENSP00000414320:T78P;ENSP00000393545:T114P;ENSP00000403959:T105P;ENSP00000403912:T78P;ENSP00000392673:T78P	.|ENSP00000233535:T127P	H|T	-|-	2|1	0|0	SLC30A3|SLC30A3	27334578|27334578	0.536000|0.536000	0.26378|0.26378	0.481000|0.481000	0.27354|0.27354	0.366000|0.366000	0.29705|0.29705	0.943000|0.943000	0.29030|0.29030	0.441000|0.441000	0.26529|0.26529	0.459000|0.459000	0.35465|0.35465	CAC|ACC	SLC30A3	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000115194		0.632	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A3	HGNC	protein_coding	OTTHUMT00000250189.2	120	0.82	1	T			27481074	27481074	-1	no_errors	ENST00000233535	ensembl	human	known	69_37n	missense	44	24.14	14	SNP	0.605	G
SLC35A2	7355	genome.wustl.edu	37	X	48760728	48760728	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:48760728A>C	ENST00000247138.5	-	5	1181	c.1178T>G	c.(1177-1179)gTg>gGg	p.V393G	SLC35A2_ENST00000376529.3_Silent_p.G196G	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	393					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GGAACCCTTCACCTTGGTGAG	0.577																																						dbGAP											0													106.0	72.0	83.0					X																	48760728		2203	4300	6503	-	-	-	SO:0001583	missense	0			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.1178T>G	X.37:g.48760728A>C	ENSP00000247138:p.Val393Gly		A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.V393G	ENST00000247138.5	37	c.1178	CCDS14311.1	X	.	.	.	.	.	.	.	.	.	.	A	9.959	1.222371	0.22457	.	.	ENSG00000102100	ENST00000247138	T	0.45668	0.89	5.37	4.15	0.48705	.	0.446726	0.16644	N	0.205515	T	0.23846	0.0577	N	0.14661	0.345	0.80722	D	1	B	0.25048	0.117	B	0.16722	0.016	T	0.11421	-1.0588	10	0.87932	D	0	.	6.2984	0.21099	0.7035:0.0:0.0:0.2965	.	393	P78381	S35A2_HUMAN	G	393	ENSP00000247138:V393G	ENSP00000247138:V393G	V	-	2	0	SLC35A2	48645672	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.552000	0.45828	1.784000	0.52394	0.486000	0.48141	GTG	SLC35A2	-	NULL	ENSG00000102100		0.577	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC35A2	HGNC	protein_coding	OTTHUMT00000060790.1	195	0.00	0	A	NM_005660		48760728	48760728	-1	no_errors	ENST00000247138	ensembl	human	known	69_37n	missense	133	14.74	23	SNP	1.000	C
SLC35G5	83650	genome.wustl.edu	37	8	11189448	11189448	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:11189448A>C	ENST00000382435.4	+	1	1052	c.833A>C	c.(832-834)cAc>cCc	p.H278P		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	278	EamA 2.					integral component of membrane (GO:0016021)											ACCAAGGCCCACCCTGCCCTG	0.567																																						dbGAP											0													113.0	111.0	112.0					8																	11189448		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.833A>C	8.37:g.11189448A>C	ENSP00000371872:p.His278Pro		A2RRL6	Missense_Mutation	SNP	pfam_DMT	p.H278P	ENST00000382435.4	37	c.833	CCDS5980.1	8	.	.	.	.	.	.	.	.	.	.	A	11.71	1.718496	0.30503	.	.	ENSG00000177710	ENST00000382435	T	0.63096	-0.02	.	.	.	.	0.000000	0.47093	D	0.000252	T	0.61299	0.2336	L	0.32530	0.975	0.44728	D	0.997722	D	0.76494	0.999	D	0.87578	0.998	T	0.56195	-0.8019	9	0.33141	T	0.24	-6.3604	4.4978	0.11848	0.9993:0.0:7.0E-4:0.0	.	278	Q96KT7	S35G5_HUMAN	P	278	ENSP00000371872:H278P	ENSP00000371872:H278P	H	+	2	0	SLC35G5	11226858	1.000000	0.71417	0.155000	0.22561	0.156000	0.22039	2.050000	0.41297	0.056000	0.16144	0.055000	0.15244	CAC	SLC35G5	-	pfam_DMT	ENSG00000177710		0.567	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	HGNC	protein_coding	OTTHUMT00000207313.2	219	0.45	1	A	NM_054028		11189448	11189448	+1	no_errors	ENST00000382435	ensembl	human	known	69_37n	missense	221	12.25	31	SNP	1.000	C
SLC35G6	643664	genome.wustl.edu	37	17	7386136	7386136	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:7386136A>C	ENST00000412468.2	+	2	948	c.833A>C	c.(832-834)cAc>cCc	p.H278P	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	278	EamA 2.					integral component of membrane (GO:0016021)											ACCAAGGCCCACCCTGCCCTG	0.577																																						dbGAP											0													157.0	141.0	146.0					17																	7386136		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.833A>C	17.37:g.7386136A>C	ENSP00000396523:p.His278Pro			Missense_Mutation	SNP	pfam_DMT	p.H278P	ENST00000412468.2	37	c.833	CCDS45603.1	17	.	.	.	.	.	.	.	.	.	.	A	16.87	3.241258	0.58995	.	.	ENSG00000181222	ENST00000412468	T	0.63096	-0.02	4.06	4.06	0.47325	.	.	.	.	.	T	0.67702	0.2921	L	0.32530	0.975	0.54753	D	0.999981	D	0.76494	0.999	D	0.87578	0.998	T	0.66532	-0.5900	9	0.37606	T	0.19	-6.3604	12.3172	0.54964	1.0:0.0:0.0:0.0	.	278	P0C7Q6	S35G6_HUMAN	P	278	ENSP00000396523:H278P	ENSP00000396523:H278P	H	+	2	0	SLC35G6	7326860	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	5.430000	0.66501	1.624000	0.50355	0.383000	0.25322	CAC	SLC35G6	-	pfam_DMT	ENSG00000259224		0.577	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G6	HGNC	protein_coding		280	0.70	2	A	NM_001102614		7386136	7386136	+1	no_errors	ENST00000412468	ensembl	human	known	69_37n	missense	195	10.96	24	SNP	1.000	C
SLC37A1	54020	genome.wustl.edu	37	21	43985952	43985952	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:43985952A>C	ENST00000352133.2	+	15	2219	c.1237A>C	c.(1237-1239)Acc>Ccc	p.T413P	SLC37A1_ENST00000398341.3_Missense_Mutation_p.T413P			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	413					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CATCTTCTCCACCGTCAGCAA	0.507																																						dbGAP											0													120.0	100.0	107.0					21																	43985952		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.1237A>C	21.37:g.43985952A>C	ENSP00000344648:p.Thr413Pro		D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T413P	ENST00000352133.2	37	c.1237	CCDS13689.1	21	.	.	.	.	.	.	.	.	.	.	A	8.210	0.800218	0.16397	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.59224	0.28;0.28	4.12	-1.58	0.08479	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.295065	0.35585	N	0.003104	T	0.48114	0.1482	L	0.55990	1.75	0.19300	N	0.999978	B	0.31599	0.33	B	0.40101	0.319	T	0.42032	-0.9475	10	0.37606	T	0.19	-14.441	3.5145	0.07719	0.2929:0.0:0.2691:0.438	.	413	P57057	GLPT_HUMAN	P	413	ENSP00000381383:T413P;ENSP00000344648:T413P	ENSP00000344648:T413P	T	+	1	0	SLC37A1	42859021	0.233000	0.23772	0.844000	0.33320	0.655000	0.38815	0.060000	0.14342	-0.517000	0.06461	0.460000	0.39030	ACC	SLC37A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000160190		0.507	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC37A1	HGNC	protein_coding	OTTHUMT00000195377.1	98	0.00	0	A			43985952	43985952	+1	no_errors	ENST00000352133	ensembl	human	known	69_37n	missense	91	13.33	14	SNP	0.259	C
SLC38A2	54407	genome.wustl.edu	37	12	46764983	46764983	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:46764983T>G	ENST00000256689.5	-	2	538	c.94A>C	c.(94-96)Acc>Ccc	p.T32P	RP11-474P2.2_ENST00000550319.1_RNA|SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	32	Regulates protein turnover upon amino acid deprivation. {ECO:0000250}.				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)		GCTTGCTTGGTGGGGTAGGAG	0.498																																					Ovarian(9;448 492 8335 28722 40361)	dbGAP											0													180.0	174.0	176.0					12																	46764983		2203	4300	6503	-	-	-	SO:0001583	missense	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.94A>C	12.37:g.46764983T>G	ENSP00000256689:p.Thr32Pro		Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.T32P	ENST00000256689.5	37	c.94	CCDS8749.1	12	.	.	.	.	.	.	.	.	.	.	T	19.49	3.837983	0.71373	.	.	ENSG00000134294	ENST00000256689	T	0.54866	0.55	5.29	4.11	0.48088	.	0.289894	0.38272	N	0.001755	T	0.44393	0.1291	L	0.51422	1.61	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.26538	-1.0100	10	0.30078	T	0.28	-11.2537	10.113	0.42574	0.1493:0.0:0.0:0.8507	.	32	Q96QD8	S38A2_HUMAN	P	32	ENSP00000256689:T32P	ENSP00000256689:T32P	T	-	1	0	SLC38A2	45051250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.103000	0.31062	0.808000	0.34231	0.528000	0.53228	ACC	SLC38A2	-	NULL	ENSG00000134294		0.498	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A2	HGNC	protein_coding	OTTHUMT00000404226.1	215	0.00	0	T			46764983	46764983	-1	no_errors	ENST00000256689	ensembl	human	known	69_37n	missense	216	11.11	27	SNP	1.000	G
SLC39A12	221074	genome.wustl.edu	37	10	18242369	18242369	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:18242369A>C	ENST00000377369.2	+	2	437	c.164A>C	c.(163-165)cAc>cCc	p.H55P	SLC39A12_ENST00000377374.4_Missense_Mutation_p.H55P|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Missense_Mutation_p.H55P	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	55					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCTGGTGACCACCCACCCCAC	0.527																																						dbGAP											0													86.0	81.0	83.0					10																	18242369		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.164A>C	10.37:g.18242369A>C	ENSP00000366586:p.His55Pro		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	pfam_ZIP	p.H55P	ENST00000377369.2	37	c.164	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	A	4.852	0.158440	0.09236	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371	T;T;T	0.21932	1.98;1.98;1.98	5.41	0.182	0.15077	.	0.877193	0.10053	N	0.722032	T	0.04770	0.0129	N	0.00419	-1.52	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.35798	-0.9774	10	0.34782	T	0.22	-0.483	3.4179	0.07382	0.6351:0.1652:0.0839:0.1158	.	55;55;55	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	P	55	ENSP00000366586:H55P;ENSP00000366591:H55P;ENSP00000366588:H55P	ENSP00000366586:H55P	H	+	2	0	SLC39A12	18282375	0.003000	0.15002	0.003000	0.11579	0.257000	0.26127	0.659000	0.24994	-0.237000	0.09739	0.533000	0.62120	CAC	SLC39A12	-	NULL	ENSG00000148482		0.527	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		152	0.00	0	A	NM_152725		18242369	18242369	+1	no_errors	ENST00000377369	ensembl	human	known	69_37n	missense	110	21.99	31	SNP	0.017	C
SLC4A1	6521	genome.wustl.edu	37	17	42335372	42335372	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:42335372T>G	ENST00000262418.6	-	11	1419	c.1264A>C	c.(1264-1266)Acc>Ccc	p.T422P	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	422	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCGCCGAAGGTGATGGCGGGT	0.572																																						dbGAP											0													66.0	61.0	63.0					17																	42335372		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1264A>C	17.37:g.42335372T>G	ENSP00000262418:p.Thr422Pro		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.T422P	ENST00000262418.6	37	c.1264	CCDS11481.1	17	.	.	.	.	.	.	.	.	.	.	t	24.1	4.493309	0.84962	.	.	ENSG00000004939	ENST00000262418	D	0.85088	-1.94	5.04	5.04	0.67666	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93756	0.8004	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;0.985	D;D	0.91635	0.999;0.96	D	0.95051	0.8187	10	0.87932	D	0	.	13.9015	0.63806	0.0:0.0:0.0:1.0	.	422;422	E2RVJ0;P02730	.;B3AT_HUMAN	P	422	ENSP00000262418:T422P	ENSP00000262418:T422P	T	-	1	0	SLC4A1	39690898	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.868000	0.87116	2.117000	0.64856	0.459000	0.35465	ACC	SLC4A1	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	ENSG00000004939		0.572	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	122	0.00	0	T	NM_000342		42335372	42335372	-1	no_errors	ENST00000262418	ensembl	human	known	69_37n	missense	50	24.64	17	SNP	1.000	G
SLC4A11	83959	genome.wustl.edu	37	20	3211627	3211627	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:3211627T>G	ENST00000380056.3	-	9	1215	c.1168A>C	c.(1168-1170)Acc>Ccc	p.T390P	SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Missense_Mutation_p.T417P|SLC4A11_ENST00000539553.2_Missense_Mutation_p.T374P	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	390	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AAAGCGATGGTGGGCAGGAGG	0.607																																					NSCLC(190;922 2139 10266 10292 38692)	dbGAP											0													156.0	146.0	150.0					20																	3211627		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.1168A>C	20.37:g.3211627T>G	ENSP00000369396:p.Thr390Pro		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk	p.T417P	ENST00000380056.3	37	c.1249	CCDS13052.1	20	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646390	0.67358	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	T;T;T	0.79033	-1.23;-1.23;-1.23	5.18	5.18	0.71444	Bicarbonate transporter, C-terminal (1);	0.207564	0.42420	D	0.000719	T	0.81763	0.4891	L	0.61218	1.895	0.32716	N	0.510947	D;D;D	0.55800	0.967;0.973;0.973	P;P;P	0.57679	0.732;0.825;0.825	D	0.86221	0.1631	10	0.66056	D	0.02	.	8.3118	0.32075	0.2842:0.0:0.0:0.7158	.	374;417;390	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	P	417;390;374	ENSP00000369399:T417P;ENSP00000369396:T390P;ENSP00000441370:T374P	ENSP00000369396:T390P	T	-	1	0	SLC4A11	3159627	0.977000	0.34250	0.665000	0.29768	0.914000	0.54420	2.096000	0.41738	1.961000	0.56991	0.379000	0.24179	ACC	SLC4A11	-	pfam_HCO3_transpt_C,prints_HCO3_transpt_euk	ENSG00000088836		0.607	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	HGNC	protein_coding	OTTHUMT00000077728.1	284	0.00	0	T			3211627	3211627	-1	no_errors	ENST00000380059	ensembl	human	known	69_37n	missense	258	10.38	30	SNP	0.991	G
SLC4A2	6522	genome.wustl.edu	37	7	150768694	150768694	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:150768694T>G	ENST00000485713.1	+	14	3231		c.e14+2		SLC4A2_ENST00000310317.5_Splice_Site|SLC4A2_ENST00000392826.2_Splice_Site|SLC4A2_ENST00000461735.1_Splice_Site|SLC4A2_ENST00000413384.2_Splice_Site	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2						anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTGCTGGGTGAGGAGAGCC	0.632																																						dbGAP											0													46.0	50.0	49.0					7																	150768694		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2191+2T>G	7.37:g.150768694T>G			B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Splice_Site	SNP	-	e13+2	ENST00000485713.1	37	c.2191+2	CCDS5917.1	7	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933470	0.52866	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	.	.	.	4.96	3.82	0.43975	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4968	0.33132	0.0:0.0913:0.0:0.9087	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A2	150399627	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	4.964000	0.63701	0.941000	0.37499	0.533000	0.62120	.	SLC4A2	-	-	ENSG00000164889		0.632	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC4A2	HGNC	protein_coding	OTTHUMT00000351039.1	49	0.00	0	T	NM_003040	Intron	150768694	150768694	+1	no_errors	ENST00000413384	ensembl	human	known	69_37n	splice_site	42	10.64	5	SNP	1.000	G
SLC4A8	9498	genome.wustl.edu	37	12	51883518	51883518	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:51883518T>G	ENST00000453097.2	+	19	2700	c.2483T>G	c.(2482-2484)gTg>gGg	p.V828G	SLC4A8_ENST00000358657.3_Missense_Mutation_p.V855G	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8											NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTACTGATGGTGGCCATCATG	0.522																																						dbGAP											0													161.0	128.0	139.0					12																	51883518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2483T>G	12.37:g.51883518T>G	ENSP00000405812:p.Val828Gly			Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.V828G	ENST00000453097.2	37	c.2483	CCDS44890.1	12	.	.	.	.	.	.	.	.	.	.	T	22.4	4.288330	0.80803	.	.	ENSG00000050438	ENST00000358657;ENST00000453097;ENST00000319957;ENST00000551071	D;D	0.82433	-1.61;-1.61	4.77	4.77	0.60923	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93164	0.7823	H	0.94423	3.535	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.981;1.0;0.996	D	0.94852	0.8014	10	0.87932	D	0	.	13.97	0.64233	0.0:0.0:0.0:1.0	.	855;828;828	Q2Y0W8-2;Q2Y0W8;Q2Y0W8-3	.;S4A8_HUMAN;.	G	855;828;828;775	ENSP00000351483:V855G;ENSP00000405812:V828G	ENSP00000315789:V828G	V	+	2	0	SLC4A8	50169785	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.978000	0.88095	2.082000	0.62665	0.402000	0.26972	GTG	SLC4A8	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000050438		0.522	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A8	HGNC	protein_coding	OTTHUMT00000404356.1	200	0.50	1	T	NM_004858		51883518	51883518	+1	no_errors	ENST00000453097	ensembl	human	known	69_37n	missense	137	12.74	20	SNP	1.000	G
SLC6A1	6529	genome.wustl.edu	37	3	11058920	11058920	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:11058920T>G	ENST00000287766.4	+	3	444	c.23T>G	c.(22-24)gTg>gGg	p.V8G	SLC6A1_ENST00000536032.1_5'UTR|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000462473.1_3'UTR	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	8					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V8G(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	GGCAGCAAGGTGGCCGACGGG	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											45.0	43.0	44.0					3																	11058920		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.23T>G	3.37:g.11058920T>G	ENSP00000287766:p.Val8Gly		Q8N4K8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1	p.V8G	ENST00000287766.4	37	c.23	CCDS2603.1	3	.	.	.	.	.	.	.	.	.	.	T	13.97	2.395245	0.42512	.	.	ENSG00000157103	ENST00000287766;ENST00000425938	T	0.73575	-0.76	4.37	3.21	0.36854	.	0.500712	0.17883	N	0.158789	T	0.51210	0.1661	N	0.08118	0	0.80722	D	1	B	0.17038	0.02	B	0.17433	0.018	T	0.33929	-0.9849	10	0.22706	T	0.39	.	8.6146	0.33824	0.0:0.0885:0.0:0.9115	.	8	P30531	SC6A1_HUMAN	G	8	ENSP00000287766:V8G	ENSP00000287766:V8G	V	+	2	0	SLC6A1	11033920	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.711000	0.47177	0.821000	0.34540	0.379000	0.24179	GTG	SLC6A1	-	NULL	ENSG00000157103		0.622	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A1	HGNC	protein_coding	OTTHUMT00000102767.2	49	0.00	0	T	NM_003042		11058920	11058920	+1	no_errors	ENST00000287766	ensembl	human	known	69_37n	missense	9	50.00	10	SNP	1.000	G
SLC6A19	340024	genome.wustl.edu	37	5	1221900	1221900	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:1221900A>C	ENST00000304460.10	+	12	1842	c.1786A>C	c.(1786-1788)Acc>Ccc	p.T596P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	596					amino acid transport (GO:0006865)|ion transport (GO:0006811)|response to nutrient (GO:0007584)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|neutral amino acid transmembrane transporter activity (GO:0015175)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCCTCCCTCACCATCCCTGG	0.577																																						dbGAP											0													113.0	96.0	102.0					5																	1221900		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096054	CCDS34130.1	5p15	2013-07-19			ENSG00000174358	ENSG00000174358		"""Solute carriers"""	27960	protein-coding gene	gene with protein product	"""Hartnup disease"""	608893					Standard	NM_001003841		Approved		uc003jbw.4	Q695T7	OTTHUMG00000161636	ENST00000304460.10:c.1786A>C	5.37:g.1221900A>C	ENSP00000305302:p.Thr596Pro		A8K446	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.T596P	ENST00000304460.10	37	c.1786	CCDS34130.1	5	.	.	.	.	.	.	.	.	.	.	A	5.230	0.227878	0.09916	.	.	ENSG00000174358	ENST00000304460	T	0.74209	-0.82	4.56	-4.7	0.03288	.	1.612500	0.03191	N	0.173306	T	0.37892	0.1020	N	0.00595	-1.35	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.28235	-1.0050	10	0.30078	T	0.28	.	4.342	0.11115	0.359:0.0:0.2057:0.4354	.	596	Q695T7	S6A19_HUMAN	P	596	ENSP00000305302:T596P	ENSP00000305302:T596P	T	+	1	0	SLC6A19	1274900	0.000000	0.05858	0.042000	0.18584	0.301000	0.27625	-1.125000	0.03257	-0.604000	0.05760	0.459000	0.35465	ACC	SLC6A19	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000174358		0.577	SLC6A19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A19	HGNC	protein_coding	OTTHUMT00000365557.1	145	0.68	1	A	XM_291120		1221900	1221900	+1	no_errors	ENST00000304460	ensembl	human	known	69_37n	missense	111	20.00	28	SNP	0.000	C
SLC6A18	348932	genome.wustl.edu	37	5	1244398	1244398	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:1244398A>G	ENST00000324642.3	+	10	1529	c.1406A>G	c.(1405-1407)gAg>gGg	p.E469G	SLC6A18_ENST00000296821.4_Missense_Mutation_p.E367G	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	469					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TACTGGCTGGAGATTTTCGAC	0.567																																						dbGAP											0													135.0	136.0	135.0					5																	1244398		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1406A>G	5.37:g.1244398A>G	ENSP00000323549:p.Glu469Gly			Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.E469G	ENST00000324642.3	37	c.1406	CCDS3860.1	5	.	.	.	.	.	.	.	.	.	.	A	17.78	3.473916	0.63737	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.74002	-0.8;-0.8	4.87	4.87	0.63330	.	0.127529	0.51477	D	0.000090	T	0.78266	0.4256	L	0.59436	1.845	0.23519	N	0.997503	P	0.42584	0.784	P	0.51170	0.661	T	0.72377	-0.4312	10	0.66056	D	0.02	.	11.989	0.53163	1.0:0.0:0.0:0.0	.	469	Q96N87	S6A18_HUMAN	G	469;367	ENSP00000323549:E469G;ENSP00000296821:E367G	ENSP00000296821:E367G	E	+	2	0	SLC6A18	1297398	1.000000	0.71417	0.918000	0.36340	0.828000	0.46876	3.114000	0.50383	1.836000	0.53414	0.459000	0.35465	GAG	SLC6A18	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000164363		0.567	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A18	HGNC	protein_coding	OTTHUMT00000206728.3	123	0.81	1	A	NM_182632		1244398	1244398	+1	no_errors	ENST00000324642	ensembl	human	known	69_37n	missense	156	19.39	38	SNP	0.987	G
SLC6A8	6535	genome.wustl.edu	37	X	152956687	152956687	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:152956687T>G	ENST00000253122.5	+	3	870				SLC6A8_ENST00000430077.2_Intron	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8						cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CCAGCCTGGGTGGGGACATAA	0.647																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.395-72T>G	X.37:g.152956687T>G			B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	RNA	SNP	-	NULL	ENST00000253122.5	37	NULL	CCDS14726.1	X																																																																																			SLC6A8	-	-	ENSG00000130821		0.647	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	35	0.00	0	T			152956687	152956687	+1	no_errors	ENST00000466243	ensembl	human	known	69_37n	rna	28	29.27	12	SNP	0.000	G
SLC7A10	56301	genome.wustl.edu	37	19	33703793	33703793	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:33703793T>G	ENST00000253188.4	-	3	618	c.472A>C	c.(472-474)Acc>Ccc	p.T158P		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	158					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|D-alanine transport (GO:0042941)|D-serine transport (GO:0042942)|ion transport (GO:0006811)|L-serine transport (GO:0015825)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGCTGTGGTGGGGGGGATG	0.637																																						dbGAP											0													59.0	62.0	61.0					19																	33703793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037670	CCDS12431.1	19q13.11	2013-05-28	2011-07-12		ENSG00000130876	ENSG00000130876		"""Solute carriers"""	11058	protein-coding gene	gene with protein product		607959				10734121, 10863037	Standard	NM_019849		Approved	asc-1	uc002num.2	Q9NS82	OTTHUMG00000180344	ENST00000253188.4:c.472A>C	19.37:g.33703793T>G	ENSP00000253188:p.Thr158Pro		B2RE84	Missense_Mutation	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.T158P	ENST00000253188.4	37	c.472	CCDS12431.1	19	.	.	.	.	.	.	.	.	.	.	T	1.595	-0.527939	0.04112	.	.	ENSG00000130876	ENST00000253188	D	0.90324	-2.65	4.34	0.546	0.17196	Amino acid permease domain (1);	0.250346	0.41294	D	0.000908	T	0.74913	0.3779	N	0.02539	-0.55	0.37553	D	0.918769	B	0.12630	0.006	B	0.30495	0.116	T	0.61836	-0.6981	10	0.29301	T	0.29	.	6.8899	0.24224	0.2997:0.592:0.0:0.1083	.	158	Q9NS82	AAA1_HUMAN	P	158	ENSP00000253188:T158P	ENSP00000253188:T158P	T	-	1	0	SLC7A10	38395633	0.723000	0.28027	0.016000	0.15963	0.008000	0.06430	1.609000	0.36858	0.289000	0.22422	-1.756000	0.00673	ACC	SLC7A10	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1	ENSG00000130876		0.637	SLC7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A10	HGNC	protein_coding	OTTHUMT00000450846.2	89	0.00	0	T	NM_019849		33703793	33703793	-1	no_errors	ENST00000253188	ensembl	human	known	69_37n	missense	53	22.06	15	SNP	0.354	G
SLC8A3	6547	genome.wustl.edu	37	14	70633415	70633415	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:70633415A>C	ENST00000381269.2	-	2	2478	c.1725T>G	c.(1723-1725)ggT>ggG	p.G575G	SLC8A3_ENST00000357887.3_Silent_p.G575G|SLC8A3_ENST00000528359.1_Silent_p.G575G|SLC8A3_ENST00000356921.2_Silent_p.G575G|SLC8A3_ENST00000534137.1_Silent_p.G575G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	575	Calx-beta 2.				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)		CCTCACCGCCACCCTTGGCTG	0.512																																						dbGAP											0													117.0	114.0	115.0					14																	70633415		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.1725T>G	14.37:g.70633415A>C			Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.G575	ENST00000381269.2	37	c.1725	CCDS35498.1	14																																																																																			SLC8A3	-	pfam_Calx_beta,smart_Calx_beta,tigrfam_Na_Ca_Ex	ENSG00000100678		0.512	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	HGNC	protein_coding	OTTHUMT00000390736.1	174	0.56	1	A			70633415	70633415	-1	no_errors	ENST00000381269	ensembl	human	known	69_37n	silent	149	16.20	29	SNP	1.000	C
SLC9A1	6548	genome.wustl.edu	37	1	27426994	27426994	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:27426994A>C	ENST00000263980.3	-	12	2827	c.2252T>G	c.(2251-2253)gTg>gGg	p.V751G	SLC9A1_ENST00000490329.1_5'Flank|SLC9A1_ENST00000545949.1_Missense_Mutation_p.V412G	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	751					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)	CTCCTCAGCCACCTTTGCAGG	0.612																																						dbGAP											0													218.0	200.0	206.0					1																	27426994		2203	4300	6503	-	-	-	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.2252T>G	1.37:g.27426994A>C	ENSP00000263980:p.Val751Gly		B1ALD6|D3DPL4|Q96EM2	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.V751G	ENST00000263980.3	37	c.2252	CCDS295.1	1	.	.	.	.	.	.	.	.	.	.	A	0.140	-1.102897	0.01828	.	.	ENSG00000090020	ENST00000263980;ENST00000374089;ENST00000545949;ENST00000447808	T;T	0.44083	0.93;1.53	3.51	2.39	0.29439	.	4.592360	0.00520	N	0.000185	T	0.23965	0.0580	N	0.08118	0	0.09310	N	1	B	0.14438	0.01	B	0.09377	0.004	T	0.17684	-1.0361	10	0.18276	T	0.48	.	5.3924	0.16251	0.8709:0.0:0.1291:0.0	.	751	P19634	SL9A1_HUMAN	G	751;255;412;172	ENSP00000263980:V751G;ENSP00000445520:V412G	ENSP00000263980:V751G	V	-	2	0	SLC9A1	27299581	0.993000	0.37304	0.001000	0.08648	0.027000	0.11550	0.495000	0.22483	0.737000	0.32582	0.477000	0.44152	GTG	SLC9A1	-	NULL	ENSG00000090020		0.612	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	138	0.72	1	A	NM_003047		27426994	27426994	-1	no_errors	ENST00000263980	ensembl	human	known	69_37n	missense	123	14.97	22	SNP	0.001	C
SLCO4A1	28231	genome.wustl.edu	37	20	61303261	61303261	+	3'UTR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:61303261A>C	ENST00000370507.1	+	0	2281				SLCO4A1_ENST00000217159.1_3'UTR			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1						sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GCCCGCGCCCACCCGGCCACG	0.587																																					Pancreas(168;741 2006 10379 40139 45334)	dbGAP											0													40.0	42.0	42.0					20																	61303261		2203	4299	6502	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.*16A>C	20.37:g.61303261A>C			Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	RNA	SNP	-	NULL	ENST00000370507.1	37	NULL	CCDS13501.1	20																																																																																			SLCO4A1	-	-	ENSG00000101187		0.587	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2	46	0.00	0	A	NM_016354		61303261	61303261	+1	no_errors	ENST00000466961	ensembl	human	known	69_37n	rna	38	19.15	9	SNP	0.000	C
SMARCC2	6601	genome.wustl.edu	37	12	56563389	56563389	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:56563389A>C	ENST00000267064.4	-	24	2632	c.2546T>G	c.(2545-2547)gTg>gGg	p.V849G	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Missense_Mutation_p.V880G|SMARCC2_ENST00000550164.1_Missense_Mutation_p.V880G|SMARCC2_ENST00000394023.3_Missense_Mutation_p.V880G	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	849	Glu-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			Gtcccgctccacctttgtctt	0.622																																						dbGAP											0													169.0	127.0	141.0					12																	56563389		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.2546T>G	12.37:g.56563389A>C	ENSP00000267064:p.Val849Gly		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom	p.V849G	ENST00000267064.4	37	c.2546	CCDS8907.1	12	.	.	.	.	.	.	.	.	.	.	A	16.82	3.228357	0.58777	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.49432	1.18;0.78;0.8;0.8	4.92	4.92	0.64577	.	0.206931	0.29335	N	0.012442	T	0.47078	0.1426	L	0.47190	1.495	0.80722	D	1	B;B;B;B;B	0.25169	0.038;0.119;0.073;0.073;0.119	B;B;B;B;B	0.38428	0.141;0.273;0.141;0.141;0.273	T	0.43893	-0.9363	10	0.35671	T	0.21	-9.6907	11.2888	0.49237	1.0:0.0:0.0:0.0	.	769;880;884;849;880	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	G	880;880;880;849	ENSP00000377591:V880G;ENSP00000449396:V880G;ENSP00000302919:V880G;ENSP00000267064:V849G	ENSP00000267064:V849G	V	-	2	0	SMARCC2	54849656	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.129000	0.57957	1.989000	0.58080	0.459000	0.35465	GTG	SMARCC2	-	NULL	ENSG00000139613		0.622	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCC2	HGNC	protein_coding	OTTHUMT00000408370.1	145	0.68	1	A			56563389	56563389	-1	no_errors	ENST00000267064	ensembl	human	known	69_37n	missense	199	13.10	30	SNP	1.000	C
SMC1A	8243	genome.wustl.edu	37	X	53430528	53430528	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:53430528A>C	ENST00000322213.4	-	15	2517	c.2390T>G	c.(2389-2391)gTg>gGg	p.V797G		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	797					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTGCCGTTTCACCTTTTCTTC	0.507																																						dbGAP											0													196.0	157.0	170.0					X																	53430528		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2390T>G	X.37:g.53430528A>C	ENSP00000323421:p.Val797Gly		O14995|Q16351|Q2M228	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.V797G	ENST00000322213.4	37	c.2390	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	A	15.23	2.771898	0.49680	.	.	ENSG00000072501	ENST00000322213	T	0.76709	-1.04	4.58	3.41	0.39046	RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000001	T	0.63165	0.2488	N	0.02158	-0.66	0.80722	D	1	D;D	0.60575	0.988;0.981	P;P	0.56788	0.806;0.689	T	0.64833	-0.6314	10	0.37606	T	0.19	.	8.6739	0.34167	0.9049:0.0:0.0951:0.0	.	775;797	Q6MZR8;Q14683	.;SMC1A_HUMAN	G	797	ENSP00000323421:V797G	ENSP00000323421:V797G	V	-	2	0	SMC1A	53447253	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.725000	0.91468	0.718000	0.32166	0.425000	0.28330	GTG	SMC1A	-	pfam_RecF/RecN/SMC	ENSG00000072501		0.507	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	408	0.48	2	A	NM_006306		53430528	53430528	-1	no_errors	ENST00000322213	ensembl	human	known	69_37n	missense	429	12.07	59	SNP	1.000	C
SMG5	23381	genome.wustl.edu	37	1	156235762	156235762	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:156235762T>G	ENST00000361813.5	-	12	1809	c.1665A>C	c.(1663-1665)ccA>ccC	p.P555P	SMG5_ENST00000368267.5_Intron|SMG5_ENST00000489907.2_5'Flank	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	555					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)					TGGGGCCCAGTGGGCCATTGA	0.592																																						dbGAP											0													54.0	52.0	53.0					1																	156235762		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.1665A>C	1.37:g.156235762T>G			D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	pfam_EST1,smart_PINc_nuc-bd	p.P555	ENST00000361813.5	37	c.1665	CCDS1137.1	1																																																																																			SMG5	-	NULL	ENSG00000198952		0.592	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	101	0.98	1	T	NM_015327		156235762	156235762	-1	no_errors	ENST00000361813	ensembl	human	known	69_37n	silent	137	13.29	21	SNP	0.116	G
SMG6	23293	genome.wustl.edu	37	17	2203370	2203370	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:2203370A>C	ENST00000263073.6	-	2	727	c.677T>G	c.(676-678)gTg>gGg	p.V226G	SMG6_ENST00000544865.1_Missense_Mutation_p.V195G	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	226	Interaction with telomeric DNA.				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						GGTTTCCCTCACCCCCTCCCC	0.597																																					Melanoma(59;28 1088 11621 25887 46638 50814)	dbGAP											0													105.0	109.0	108.0					17																	2203370		2203	4300	6503	-	-	-	SO:0001583	missense	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.677T>G	17.37:g.2203370A>C	ENSP00000263073:p.Val226Gly		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.V226G	ENST00000263073.6	37	c.677	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.031714	0.00410	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.08193	3.12;3.12	5.16	-1.5	0.08691	.	2.446100	0.01475	N	0.016440	T	0.05273	0.0140	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39333	-0.9619	10	0.40728	T	0.16	15.3983	7.9395	0.29950	0.4626:0.1166:0.4209:0.0	.	226	Q86US8	EST1A_HUMAN	G	226;195	ENSP00000263073:V226G;ENSP00000443920:V195G	ENSP00000263073:V226G	V	-	2	0	SMG6	2150120	0.097000	0.21791	0.000000	0.03702	0.013000	0.08279	0.794000	0.26958	-0.241000	0.09681	-0.290000	0.09829	GTG	SMG6	-	NULL	ENSG00000070366		0.597	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	168	0.00	0	A			2203370	2203370	-1	no_errors	ENST00000263073	ensembl	human	known	69_37n	missense	114	14.29	19	SNP	0.000	C
SMTN	6525	genome.wustl.edu	37	22	31486952	31486952	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:31486952A>C	ENST00000347557.2	+	10	1161	c.943A>C	c.(943-945)Acc>Ccc	p.T315P	SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000333137.7_Missense_Mutation_p.T315P|SMTN_ENST00000358743.1_Missense_Mutation_p.T315P	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	315					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TCTAGAGTCCACCCCCCTTGC	0.582																																						dbGAP											0													122.0	113.0	116.0					22																	31486952		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.943A>C	22.37:g.31486952A>C	ENSP00000328635:p.Thr315Pro		O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.T315P	ENST00000347557.2	37	c.943	CCDS13886.1	22	.	.	.	.	.	.	.	.	.	.	A	7.458	0.644030	0.14451	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.68181	0.11;-0.31;-0.31	4.42	2.27	0.28462	.	0.230015	0.22476	N	0.059545	T	0.44244	0.1284	N	0.14661	0.345	0.48135	D	0.999594	B;B;B;B;B;B	0.06786	0.001;0.0;0.001;0.0;0.001;0.001	B;B;B;B;B;B	0.08055	0.002;0.003;0.001;0.002;0.001;0.003	T	0.31308	-0.9948	10	0.51188	T	0.08	-11.2978	6.018	0.19613	0.5963:0.3146:0.0891:0.0	.	371;369;307;315;315;315	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	P	315;315;315;315;307	ENSP00000351593:T315P;ENSP00000328635:T315P;ENSP00000329532:T315P	ENSP00000329393:T315P	T	+	1	0	SMTN	29816952	0.001000	0.12720	0.901000	0.35422	0.378000	0.30076	0.600000	0.24104	0.821000	0.34540	0.397000	0.26171	ACC	SMTN	-	NULL	ENSG00000183963		0.582	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	117	0.00	0	A	NM_134270		31486952	31486952	+1	no_errors	ENST00000347557	ensembl	human	known	69_37n	missense	138	14.20	23	SNP	0.787	C
SMYD2	56950	genome.wustl.edu	37	1	214507378	214507378	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:214507378T>G	ENST00000366957.5	+	11	1134				SMYD2_ENST00000415093.2_Intron|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2						negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TTCGGCAGGGTGGCAGCATCC	0.507																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.1113-165T>G	1.37:g.214507378T>G			B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	RNA	SNP	-	NULL	ENST00000366957.5	37	NULL	CCDS31022.1	1																																																																																			SMYD2	-	-	ENSG00000143499		0.507	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD2	HGNC	protein_coding	OTTHUMT00000089998.1	72	0.00	0	T	NM_020197		214507378	214507378	+1	no_errors	ENST00000491455	ensembl	human	known	69_37n	rna	105	18.94	25	SNP	0.000	G
SNCA	6622	genome.wustl.edu	37	4	90743458	90743458	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:90743458A>C	ENST00000394986.1	-	4	666	c.245T>G	c.(244-246)gTg>gGg	p.V82G	SNCA_ENST00000506244.1_Missense_Mutation_p.V82G|SNCA_ENST00000394989.2_Missense_Mutation_p.V68G|SNCA_ENST00000502987.1_Missense_Mutation_p.V82G|SNCA_ENST00000508895.1_Missense_Mutation_p.V82G|SNCA_ENST00000345009.4_Missense_Mutation_p.V82G|SNCA_ENST00000420646.2_Missense_Mutation_p.V82G|SNCA_ENST00000394991.3_Missense_Mutation_p.V82G|SNCA_ENST00000505199.1_Missense_Mutation_p.V68G|SNCA_ENST00000336904.3_Missense_Mutation_p.V82G			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	82					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adult locomotory behavior (GO:0008344)|aging (GO:0007568)|behavioral response to cocaine (GO:0048148)|cellular response to copper ion (GO:0071280)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to oxidative stress (GO:0034599)|dopamine biosynthetic process (GO:0042416)|dopamine uptake involved in synaptic transmission (GO:0051583)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|long-term synaptic potentiation (GO:0060291)|microglial cell activation (GO:0001774)|mitochondrial ATP synthesis coupled electron transport (GO:0042775)|mitochondrial membrane organization (GO:0007006)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dopamine metabolic process (GO:0045963)|negative regulation of dopamine uptake involved in synaptic transmission (GO:0051585)|negative regulation of exocytosis (GO:0045920)|negative regulation of histone acetylation (GO:0035067)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of monooxygenase activity (GO:0032769)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of norepinephrine uptake (GO:0051622)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of serotonin uptake (GO:0051612)|negative regulation of thrombin receptor signaling pathway (GO:0070495)|negative regulation of transporter activity (GO:0032410)|neutral lipid metabolic process (GO:0006638)|oxidation-reduction process (GO:0055114)|phospholipid metabolic process (GO:0006644)|positive regulation of endocytosis (GO:0045807)|positive regulation of glutathione peroxidase activity (GO:1903284)|positive regulation of hydrogen peroxide catabolic process (GO:1903285)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of receptor recycling (GO:0001921)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein destabilization (GO:0031648)|receptor internalization (GO:0031623)|regulation of acyl-CoA biosynthetic process (GO:0050812)|regulation of dopamine secretion (GO:0014059)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glutamate secretion (GO:0014048)|regulation of locomotion (GO:0040012)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of macrophage activation (GO:0043030)|regulation of neuron death (GO:1901214)|regulation of phospholipase activity (GO:0010517)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to iron(II) ion (GO:0010040)|response to lipopolysaccharide (GO:0032496)|response to magnesium ion (GO:0032026)|synapse organization (GO:0050808)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular region (GO:0005576)|fibril (GO:0043205)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nuclear outer membrane (GO:0005640)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribosome (GO:0005840)|rough endoplasmic reticulum (GO:0005791)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	alpha-tubulin binding (GO:0043014)|calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dynein binding (GO:0045502)|ferrous iron binding (GO:0008198)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|oxidoreductase activity (GO:0016491)|phospholipid binding (GO:0005543)|phosphoprotein binding (GO:0051219)|tau protein binding (GO:0048156)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)		TGCTCCCTCCACTGTCTTCTG	0.498																																						dbGAP											0													210.0	154.0	173.0					4																	90743458		2203	4300	6503	-	-	-	SO:0001583	missense	0			L08850	CCDS3634.1, CCDS43252.1	4q21.3-q22	2014-05-22			ENSG00000145335	ENSG00000145335		"""Parkinson disease"""	11138	protein-coding gene	gene with protein product		163890	"""Parkinson disease (autosomal dominant, Lewy body) 4"""	PARK1, PARK4		8248242, 14593171	Standard	NM_000345		Approved	NACP, PD1, alpha-synuclein	uc003hsr.3	P37840	OTTHUMG00000130948	ENST00000394986.1:c.245T>G	4.37:g.90743458A>C	ENSP00000378437:p.Val82Gly		A8K2A4|Q13701|Q4JHI3|Q6IAU6	Missense_Mutation	SNP	pfam_Synuclein,prints_Synuclein,prints_Synuclein_alpha,prints_Synuclein_gamma	p.V82G	ENST00000394986.1	37	c.245	CCDS3634.1	4	.	.	.	.	.	.	.	.	.	.	A	22.1	4.244348	0.79912	.	.	ENSG00000145335	ENST00000394989;ENST00000420646;ENST00000345009;ENST00000394986;ENST00000394991;ENST00000336904;ENST00000508895;ENST00000506244;ENST00000505199;ENST00000502987	D;D;D;D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	4.21	4.21	0.49690	.	0.000000	0.64402	D	0.000001	D	0.91764	0.7395	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.977;0.999;0.999	D;D;D	0.80764	0.943;0.994;0.991	D	0.92716	0.6187	10	0.87932	D	0	-6.6228	14.3553	0.66733	1.0:0.0:0.0:0.0	.	68;82;82	P37840-3;P37840;P37840-2	.;SYUA_HUMAN;.	G	68;82;82;82;82;82;82;82;68;82	ENSP00000378440:V68G;ENSP00000396241:V82G;ENSP00000343683:V82G;ENSP00000378437:V82G;ENSP00000378442:V82G;ENSP00000338345:V82G;ENSP00000426955:V82G;ENSP00000422238:V82G;ENSP00000421485:V68G;ENSP00000426034:V82G	ENSP00000338345:V82G	V	-	2	0	SNCA	90962481	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.929000	0.70096	2.120000	0.65058	0.460000	0.39030	GTG	SNCA	-	pfam_Synuclein,prints_Synuclein_gamma	ENSG00000145335		0.498	SNCA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNCA	HGNC	protein_coding	OTTHUMT00000253547.2	189	0.52	1	A			90743458	90743458	-1	no_errors	ENST00000336904	ensembl	human	known	69_37n	missense	210	10.26	24	SNP	1.000	C
SNRK	54861	genome.wustl.edu	37	3	43388883	43388883	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:43388883A>C	ENST00000296088.7	+	7	1436	c.1132A>C	c.(1132-1134)Acg>Ccg	p.T378P	SNRK-AS1_ENST00000422681.1_RNA|RP11-188P20.3_ENST00000607513.1_RNA|SNRK_ENST00000437827.1_Missense_Mutation_p.T172P|SNRK_ENST00000454177.1_Missense_Mutation_p.T378P|SNRK_ENST00000429705.2_Missense_Mutation_p.T378P	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGATGACCTCACGGCCACTCC	0.527																																						dbGAP											0													85.0	92.0	90.0					3																	43388883		2011	4184	6195	-	-	-	SO:0001583	missense	0			D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.1132A>C	3.37:g.43388883A>C	ENSP00000296088:p.Thr378Pro			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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.T378P	ENST00000296088.7	37	c.1132	CCDS43075.1	3	.	.	.	.	.	.	.	.	.	.	A	14.63	2.591988	0.46214	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	T;T;T;T	0.64991	-0.13;-0.13;-0.13;2.79	4.72	4.72	0.59763	.	0.056416	0.64402	D	0.000001	T	0.43612	0.1255	N	0.14661	0.345	0.44309	D	0.997181	P	0.39665	0.682	B	0.34489	0.184	T	0.49283	-0.8956	10	0.44086	T	0.13	.	14.5096	0.67776	1.0:0.0:0.0:0.0	.	378	Q9NRH2	SNRK_HUMAN	P	378;378;378;172	ENSP00000401246:T378P;ENSP00000411375:T378P;ENSP00000296088:T378P;ENSP00000409516:T172P	ENSP00000296088:T378P	T	+	1	0	SNRK	43363887	1.000000	0.71417	0.982000	0.44146	0.918000	0.54935	7.027000	0.76463	1.903000	0.55091	0.533000	0.62120	ACG	SNRK	-	NULL	ENSG00000163788		0.527	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SNRK	HGNC	protein_coding	OTTHUMT00000344325.1	89	0.00	0	A	NM_017719		43388883	43388883	+1	no_errors	ENST00000296088	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	1.000	C
SNRNP200	23020	genome.wustl.edu	37	2	96949301	96949301	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:96949301T>G	ENST00000323853.5	-	33	4812	c.4735A>C	c.(4735-4737)Acc>Ccc	p.T1579P	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1579	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTGCACAGGTGGTGAGGATG	0.577																																						dbGAP											0													119.0	110.0	113.0					2																	96949301		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.4735A>C	2.37:g.96949301T>G	ENSP00000317123:p.Thr1579Pro		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T1579P	ENST00000323853.5	37	c.4735	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	T	14.75	2.627956	0.46944	.	.	ENSG00000144028	ENST00000323853;ENST00000536601;ENST00000543553	T	0.77877	-1.13	4.48	4.48	0.54585	Helicase, C-terminal (1);	0.125717	0.53938	D	0.000044	T	0.66944	0.2841	N	0.21545	0.675	0.80722	D	1	B;B	0.25105	0.099;0.118	B;B	0.29440	0.102;0.018	T	0.66803	-0.5831	10	0.51188	T	0.08	-15.4197	13.1805	0.59651	0.0:0.0:0.0:1.0	.	1330;1579	A4FU77;O75643	.;U520_HUMAN	P	1579;38;162	ENSP00000317123:T1579P	ENSP00000317123:T1579P	T	-	1	0	SNRNP200	96313028	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	5.884000	0.69729	2.014000	0.59158	0.460000	0.39030	ACC	SNRNP200	-	pfscan_Helicase_C	ENSG00000144028		0.577	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	129	0.00	0	T	NM_014014		96949301	96949301	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	missense	114	16.31	23	SNP	1.000	G
SNRNP200	23020	genome.wustl.edu	37	2	96952794	96952794	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:96952794T>G	ENST00000323853.5	-	27	3666	c.3589A>C	c.(3589-3591)Acc>Ccc	p.T1197P	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1197	SEC63 1.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						ACCTTCAGGGTGGAGCGTGTG	0.537																																						dbGAP											0													139.0	126.0	131.0					2																	96952794		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.3589A>C	2.37:g.96952794T>G	ENSP00000317123:p.Thr1197Pro		O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.T1197P	ENST00000323853.5	37	c.3589	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	T	23.2	4.393436	0.83011	.	.	ENSG00000144028	ENST00000323853	T	0.60672	0.17	5.04	5.04	0.67666	Sec63 domain (3);	0.000000	0.85682	D	0.000000	T	0.71160	0.3307	M	0.81682	2.555	0.80722	D	1	P	0.45126	0.851	P	0.53266	0.722	T	0.75572	-0.3271	10	0.62326	D	0.03	-21.6934	13.8909	0.63738	0.0:0.0:0.0:1.0	.	1197	O75643	U520_HUMAN	P	1197	ENSP00000317123:T1197P	ENSP00000317123:T1197P	T	-	1	0	SNRNP200	96316521	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.107000	0.71517	2.131000	0.65755	0.374000	0.22700	ACC	SNRNP200	-	pfam_Sec63-dom,smart_Sec63-dom	ENSG00000144028		0.537	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	174	0.00	0	T	NM_014014		96952794	96952794	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	missense	110	17.29	23	SNP	1.000	G
SNRNP200	23020	genome.wustl.edu	37	2	96963381	96963381	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:96963381A>C	ENST00000323853.5	-	10	1274	c.1197T>G	c.(1195-1197)ggT>ggG	p.G399G	SNRNP200_ENST00000349783.5_Silent_p.G399G	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	399					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTACCTCTCCACCCTGGTCGA	0.483																																						dbGAP											0													96.0	90.0	92.0					2																	96963381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1197T>G	2.37:g.96963381A>C			O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Silent	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.G399	ENST00000323853.5	37	c.1197	CCDS2020.1	2																																																																																			SNRNP200	-	NULL	ENSG00000144028		0.483	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	135	0.00	0	A	NM_014014		96963381	96963381	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	silent	109	16.30	22	SNP	0.956	C
SNX9	51429	genome.wustl.edu	37	6	158349702	158349702	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:158349702T>G	ENST00000392185.3	+	12	1427	c.1256T>G	c.(1255-1257)gTg>gGg	p.V419G		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	419	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|lipid tube assembly (GO:0060988)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein oligomerization (GO:0032461)|receptor-mediated endocytosis (GO:0006898)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	1-phosphatidylinositol binding (GO:0005545)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGCTGACGGTGGGGCAGGAG	0.602																																						dbGAP											0													61.0	42.0	48.0					6																	158349702		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF121859	CCDS5253.1	6q25.1-q26	2008-05-22			ENSG00000130340	ENSG00000130340		"""Sorting nexins"""	14973	protein-coding gene	gene with protein product		605952				10531379, 17609109	Standard	NM_016224		Approved	SH3PX1, SDP1, SH3PXD3A	uc003qqv.1	Q9Y5X1	OTTHUMG00000015903	ENST00000392185.3:c.1256T>G	6.37:g.158349702T>G	ENSP00000376024:p.Val419Gly		Q9BSI7|Q9BVM1|Q9UJH6|Q9UP20	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.V419G	ENST00000392185.3	37	c.1256	CCDS5253.1	6	.	.	.	.	.	.	.	.	.	.	T	21.7	4.191805	0.78902	.	.	ENSG00000130340	ENST00000539592;ENST00000392185;ENST00000252631	T	0.39229	1.09	5.02	5.02	0.67125	Sorting nexin protein, WASP-binding domain (1);	0.066579	0.64402	D	0.000010	T	0.55162	0.1903	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59910	-0.7365	10	0.72032	D	0.01	-29.6444	14.7257	0.69343	0.0:0.0:0.0:1.0	.	419	Q9Y5X1	SNX9_HUMAN	G	419;419;219	ENSP00000376024:V419G	ENSP00000252631:V219G	V	+	2	0	SNX9	158269690	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	7.579000	0.82511	2.328000	0.79073	0.563000	0.77884	GTG	SNX9	-	pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9	ENSG00000130340		0.602	SNX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX9	HGNC	protein_coding	OTTHUMT00000042856.1	105	0.94	1	T			158349702	158349702	+1	no_errors	ENST00000392185	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	1.000	G
SOGA1	140710	genome.wustl.edu	37	20	35444487	35444487	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:35444487A>C	ENST00000357779.3	-	5	970	c.644T>G	c.(643-645)gTg>gGg	p.V215G	SOGA1_ENST00000279034.6_Missense_Mutation_p.V215G|SOGA1_ENST00000237536.4_Missense_Mutation_p.V453G|SOGA1_ENST00000456801.2_Missense_Mutation_p.V56G			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	215					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TTCCTCCTCCACCAGCTTCAG	0.657																																						dbGAP											0													43.0	48.0	46.0					20																	35444487		2188	4295	6483	-	-	-	SO:0001583	missense	0			AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.644T>G	20.37:g.35444487A>C	ENSP00000350424:p.Val215Gly		A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	pfam_DUF3166	p.V215G	ENST00000357779.3	37	c.644		20	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409281	0.83340	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.43294	1.71;1.75;0.95;1.77	5.24	5.24	0.73138	.	0.065206	0.64402	D	0.000013	T	0.61751	0.2372	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61481	-0.7054	10	0.41790	T	0.15	-40.1119	14.2588	0.66070	1.0:0.0:0.0:0.0	.	215	O94964-4	.	G	453;215;56;215	ENSP00000237536:V453G;ENSP00000279034:V215G;ENSP00000413886:V56G;ENSP00000350424:V215G	ENSP00000237536:V453G	V	-	2	0	KIAA0889	34877901	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.334000	0.79224	2.199000	0.70637	0.533000	0.62120	GTG	SOGA1	-	pfam_DUF3166	ENSG00000149639		0.657	SOGA1-201	KNOWN	basic	protein_coding	SOGA1	HGNC	protein_coding		73	0.00	0	A	NM_199181		35444487	35444487	-1	no_errors	ENST00000357779	ensembl	human	known	69_37n	missense	62	20.00	16	SNP	1.000	C
SOHLH2	54937	genome.wustl.edu	37	13	36748877	36748877	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:36748877A>G	ENST00000379881.3	-	7	859	c.771T>C	c.(769-771)tcT>tcC	p.S257S	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S334S|SOHLH2_ENST00000554962.1_Silent_p.S334S	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	257					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TAACGGCTGGAGAGATTTTCT	0.368																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.771T>C	13.37:g.36748877A>G			B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S334	ENST00000379881.3	37	c.1002	CCDS9355.1	13																																																																																			SOHLH2	-	superfamily_HLH_DNA-bd,smart_HLH_DNA-bd	ENSG00000120669		0.368	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	201	0.00	0	A	NM_017826		36748877	36748877	-1	no_errors	ENST00000554962	ensembl	human	known	69_37n	silent	137	22.47	40	SNP	0.996	G
SORBS1	10580	genome.wustl.edu	37	10	97074670	97074670	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:97074670T>G	ENST00000371227.4	-	0	4136				SORBS1_ENST00000353505.5_3'UTR|SORBS1_ENST00000371249.2_3'UTR|SORBS1_ENST00000607232.1_3'UTR|SORBS1_ENST00000371247.2_3'UTR|SORBS1_ENST00000306402.6_3'UTR|SORBS1_ENST00000371246.2_3'UTR|SORBS1_ENST00000347291.4_3'UTR|SORBS1_ENST00000393949.1_3'UTR					sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CAGGCTTGGGTTTTAAACACA	0.388																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000371227.4:c.*146A>C	10.37:g.97074670T>G				RNA	SNP	-	NULL	ENST00000371227.4	37	NULL		10																																																																																			SORBS1	-	-	ENSG00000095637		0.388	SORBS1-015	NOVEL	basic	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049528.2	38	0.00	0	T			97074670	97074670	-1	no_errors	ENST00000470320	ensembl	human	known	69_37n	rna	22	31.25	10	SNP	0.000	G
SORBS3	10174	genome.wustl.edu	37	8	22424566	22424566	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:22424566A>C	ENST00000240123.7	+	16	1573				SORBS3_ENST00000428103.1_Intron|RP11-582J16.3_ENST00000517384.1_RNA|SORBS3_ENST00000523740.1_Intron	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCTCGTCCCCACCTGCAGGGA	0.612																																						dbGAP											0													64.0	58.0	60.0					8																	22424566		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1191-8A>C	8.37:g.22424566A>C			Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_SH3_domain	p.T6P	ENST00000240123.7	37	c.16	CCDS6031.1	8	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279989	0.59758	.	.	ENSG00000120896	ENST00000523348	T	0.15487	2.42	5.43	3.49	0.39957	.	.	.	.	.	T	0.21427	0.0516	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.12041	-1.0563	6	0.72032	D	0.01	.	8.1958	0.31396	0.087:0.3089:0.604:0.0	.	.	.	.	P	6	ENSP00000428678:T6P	ENSP00000428678:T6P	T	+	1	0	SORBS3	22480511	0.000000	0.05858	0.004000	0.12327	0.032000	0.12392	0.038000	0.13862	0.768000	0.33290	-0.119000	0.15052	ACC	SORBS3	-	pfam_SH3_2,smart_SH3_domain	ENSG00000120896		0.612	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORBS3	HGNC	protein_coding	OTTHUMT00000254647.3	61	0.00	0	A	NM_005775		22424566	22424566	+1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000523348	ensembl	human	putative	69_37n	missense	36	14.29	6	SNP	0.005	C
SOX10	6663	genome.wustl.edu	37	22	38369836	38369836	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:38369836A>C	ENST00000396884.2	-	4	1349	c.1067T>G	c.(1066-1068)gTg>gGg	p.V356G	SOX10_ENST00000360880.2_Missense_Mutation_p.V356G|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	356					anatomical structure morphogenesis (GO:0009653)|cell maturation (GO:0048469)|developmental growth (GO:0048589)|digestive tract morphogenesis (GO:0048546)|enteric nervous system development (GO:0048484)|in utero embryonic development (GO:0001701)|melanocyte differentiation (GO:0030318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system development (GO:0007422)|positive regulation of gliogenesis (GO:0014015)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extrinsic component of mitochondrial outer membrane (GO:0031315)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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)|transcription coactivator activity (GO:0003713)			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					CTCTGTCTTCACCTGGGCTTT	0.672																																					Melanoma(39;342 1098 6220 32775 40068)|GBM(21;140 497 5227 16059 19275)	dbGAP											0													47.0	51.0	49.0					22																	38369836		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13964.1	22q13.1	2014-09-17			ENSG00000100146	ENSG00000100146		"""SRY (sex determining region Y)-boxes"""	11190	protein-coding gene	gene with protein product	"""dominant megacolon, mouse, human homolog of"""	602229				9462749, 10441344, 12944398	Standard	NM_006941		Approved	DOM, WS4, WS2E	uc003aun.1	P56693	OTTHUMG00000149913	ENST00000396884.2:c.1067T>G	22.37:g.38369836A>C	ENSP00000380093:p.Val356Gly		B4DV62|Q6FHW7	Missense_Mutation	SNP	pfam_Sox_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.V356G	ENST00000396884.2	37	c.1067	CCDS13964.1	22	.	.	.	.	.	.	.	.	.	.	A	18.36	3.606089	0.66445	.	.	ENSG00000100146	ENST00000396884;ENST00000360880	T;T	0.77877	-1.13;-1.13	4.87	4.87	0.63330	.	0.237994	0.36482	N	0.002576	D	0.83968	0.5369	M	0.61703	1.905	0.80722	D	1	D	0.53885	0.963	P	0.58520	0.84	D	0.86101	0.1556	10	0.87932	D	0	.	14.4787	0.67564	1.0:0.0:0.0:0.0	.	356	P56693	SOX10_HUMAN	G	356	ENSP00000380093:V356G;ENSP00000354130:V356G	ENSP00000354130:V356G	V	-	2	0	SOX10	36699782	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	8.947000	0.93000	1.825000	0.53177	0.374000	0.22700	GTG	SOX10	-	NULL	ENSG00000100146		0.672	SOX10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SOX10	HGNC	protein_coding	OTTHUMT00000313875.1	129	0.00	0	A	NM_006941		38369836	38369836	-1	no_errors	ENST00000360880	ensembl	human	known	69_37n	missense	98	16.81	20	SNP	1.000	C
SPAG9	9043	genome.wustl.edu	37	17	49057223	49057223	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:49057223A>C	ENST00000262013.7	-	26	3501	c.3293T>G	c.(3292-3294)gTg>gGg	p.V1098G	SPAG9_ENST00000505279.1_Missense_Mutation_p.V1088G|SPAG9_ENST00000357122.4_Missense_Mutation_p.V1084G|SPAG9_ENST00000510283.1_Missense_Mutation_p.V941G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	1098					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCCATCCCCCACCCACGCAAG	0.473																																						dbGAP											0													184.0	149.0	161.0					17																	49057223		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.3293T>G	17.37:g.49057223A>C	ENSP00000262013:p.Val1098Gly		A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.V1098G	ENST00000262013.7	37	c.3293	CCDS45740.1	17	.	.	.	.	.	.	.	.	.	.	A	17.15	3.316208	0.60524	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.175074	0.49916	D	0.000139	T	0.37128	0.0992	L	0.43152	1.355	0.80722	D	1	B;B;B;P	0.39940	0.041;0.024;0.38;0.696	B;B;B;B	0.42030	0.037;0.027;0.283;0.373	T	0.11227	-1.0596	10	0.41790	T	0.15	-13.9642	16.0314	0.80579	1.0:0.0:0.0:0.0	.	1088;1098;1084;941	O60271-2;O60271;O60271-4;E7ENU2	.;JIP4_HUMAN;.;.	G	1098;855;845;941;1088;1084;696	ENSP00000262013:V1098G;ENSP00000423165:V941G;ENSP00000426900:V1088G;ENSP00000349636:V1084G	ENSP00000262013:V1098G	V	-	2	0	SPAG9	46412222	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.416000	0.52707	2.193000	0.70182	0.402000	0.26972	GTG	SPAG9	-	superfamily_WD40_repeat_dom	ENSG00000008294		0.473	SPAG9-001	KNOWN	basic|CCDS	protein_coding	SPAG9	HGNC	protein_coding	OTTHUMT00000368543.2	251	0.78	2	A	NM_003971		49057223	49057223	-1	no_errors	ENST00000262013	ensembl	human	known	69_37n	missense	134	17.28	28	SNP	1.000	C
SOX9	6662	genome.wustl.edu	37	17	70120376	70120376	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:70120376A>C	ENST00000245479.2	+	3	1750	c.1378A>C	c.(1378-1380)Acc>Ccc	p.T460P		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	460					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T460P(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			AGGCCAGGGCACCGGCCTCTA	0.642																																					Pancreas(42;83 1041 2320 35205 39456)	dbGAP											1	Substitution - Missense(1)	endometrium(1)											146.0	140.0	142.0					17																	70120376		2203	4300	6503	-	-	-	SO:0001583	missense	0			S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1378A>C	17.37:g.70120376A>C	ENSP00000245479:p.Thr460Pro		Q53Y80	Missense_Mutation	SNP	pfam_Sox_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.T460P	ENST00000245479.2	37	c.1378	CCDS11689.1	17	.	.	.	.	.	.	.	.	.	.	A	11.65	1.701278	0.30142	.	.	ENSG00000125398	ENST00000245479;ENST00000455872	T	0.77229	-1.08	4.27	3.18	0.36537	.	0.199180	0.44285	D	0.000474	T	0.55033	0.1895	N	0.10809	0.05	0.27206	N	0.960035	B	0.23735	0.09	B	0.20184	0.028	T	0.42865	-0.9426	10	0.30078	T	0.28	.	6.7272	0.23363	0.1563:0.0:0.1495:0.6942	.	460	P48436	SOX9_HUMAN	P	460;396	ENSP00000245479:T460P	ENSP00000245479:T460P	T	+	1	0	SOX9	67631971	1.000000	0.71417	0.996000	0.52242	0.879000	0.50718	1.244000	0.32778	0.606000	0.29965	-0.695000	0.03696	ACC	SOX9	-	NULL	ENSG00000125398		0.642	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX9	HGNC	protein_coding	OTTHUMT00000389032.1	127	0.77	1	A	NM_000346		70120376	70120376	+1	no_errors	ENST00000245479	ensembl	human	known	69_37n	missense	81	26.79	30	SNP	1.000	C
SPATA18	132671	genome.wustl.edu	37	4	52943021	52943021	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:52943021A>C	ENST00000295213.4	+	7	1209	c.835A>C	c.(835-837)Acc>Ccc	p.T279P	SPATA18_ENST00000419395.2_Missense_Mutation_p.T247P	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	279	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAGCCCCTCCACCGCTGTCAA	0.642																																						dbGAP											0													48.0	44.0	45.0					4																	52943021		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.835A>C	4.37:g.52943021A>C	ENSP00000295213:p.Thr279Pro		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	NULL	p.T279P	ENST00000295213.4	37	c.835	CCDS3489.1	4	.	.	.	.	.	.	.	.	.	.	A	12.66	2.003558	0.35320	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.57273	0.41;4.69	4.38	-3.1	0.05315	.	1.061000	0.07380	N	0.887364	T	0.53351	0.1791	M	0.63428	1.95	0.09310	N	1	P;P;D	0.57571	0.545;0.681;0.98	B;B;P	0.53649	0.158;0.158;0.731	T	0.50083	-0.8869	10	0.36615	T	0.2	-1.2802	3.3414	0.07119	0.4548:0.0:0.2677:0.2774	.	247;279;279	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	P	279;247	ENSP00000295213:T279P;ENSP00000415309:T247P	ENSP00000295213:T279P	T	+	1	0	SPATA18	52637778	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.160000	0.16462	-0.272000	0.09259	0.379000	0.24179	ACC	SPATA18	-	NULL	ENSG00000163071		0.642	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA18	HGNC	protein_coding	OTTHUMT00000250597.2	41	0.00	0	A	NM_145263		52943021	52943021	+1	no_errors	ENST00000295213	ensembl	human	known	69_37n	missense	35	12.50	5	SNP	0.000	C
SPDYC	387778	genome.wustl.edu	37	11	64938906	64938906	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:64938906T>G	ENST00000377185.2	+	2	217	c.135T>G	c.(133-135)ggT>ggG	p.G45G	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C											breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GCCGGCAAGGTGGGGGCAATG	0.632																																						dbGAP											0													38.0	38.0	38.0					11																	64938906		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.135T>G	11.37:g.64938906T>G				Silent	SNP	pfam_Cell_cycle_regulatory_Spy1	p.G45	ENST00000377185.2	37	c.135	CCDS31606.1	11																																																																																			SPDYC	-	NULL	ENSG00000204710		0.632	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYC	HGNC	protein_coding	OTTHUMT00000385299.1	64	0.00	0	T	NM_001008778		64938906	64938906	+1	no_errors	ENST00000377185	ensembl	human	known	69_37n	silent	92	13.21	14	SNP	0.000	G
SPECC1L	23384	genome.wustl.edu	37	22	24709359	24709359	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:24709359A>C	ENST00000314328.9	+	4	517	c.232A>C	c.(232-234)Acc>Ccc	p.T78P	SPECC1L_ENST00000541492.1_Missense_Mutation_p.T78P|SPECC1L_ENST00000416735.1_3'UTR|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.T78P|SPECC1L_ENST00000437398.1_Missense_Mutation_p.T78P	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	78					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AAAGAAAAGCACCTGCCCATC	0.483																																						dbGAP											0													110.0	92.0	98.0					22																	24709359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.232A>C	22.37:g.24709359A>C	ENSP00000325785:p.Thr78Pro		B7Z758|F5H1H6|O15081	Missense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain	p.T78P	ENST00000314328.9	37	c.232	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524257	0.44866	.	.	ENSG00000100014	ENST00000398280;ENST00000437398;ENST00000421374;ENST00000314328;ENST00000541492;ENST00000440893	T;T;T;T;T	0.61859	0.07;2.55;0.07;3.07;0.69	4.69	2.55	0.30701	.	0.159578	0.56097	D	0.000039	T	0.42108	0.1188	L	0.34521	1.04	0.42575	D	0.993194	B;B	0.19817	0.039;0.023	B;B	0.25291	0.059;0.026	T	0.22591	-1.0212	10	0.48119	T	0.1	-5.887	5.1335	0.14922	0.7089:0.0:0.1573:0.1338	.	78;78	F5H1H6;Q69YQ0	.;CYTSA_HUMAN	P	106;78;78;78;78;17	ENSP00000393363:T78P;ENSP00000405671:T78P;ENSP00000325785:T78P;ENSP00000439633:T78P;ENSP00000414354:T17P	ENSP00000325785:T78P	T	+	1	0	SPECC1L	23039359	0.196000	0.23350	0.939000	0.37840	0.997000	0.91878	0.228000	0.17814	0.372000	0.24591	0.533000	0.62120	ACC	SPECC1L	-	NULL	ENSG00000100014		0.483	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	139	0.71	1	A	NM_015330		24709359	24709359	+1	no_errors	ENST00000314328	ensembl	human	known	69_37n	missense	109	17.42	23	SNP	0.998	C
SPECC1L	23384	genome.wustl.edu	37	22	24709376	24709376	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:24709376A>C	ENST00000314328.9	+	4	534	c.249A>C	c.(247-249)gcA>gcC	p.A83A	SPECC1L_ENST00000541492.1_Silent_p.A83A|SPECC1L_ENST00000416735.1_3'UTR|SPECC1L-ADORA2A_ENST00000358654.2_Silent_p.A83A|SPECC1L_ENST00000437398.1_Silent_p.A83A	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	83					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CATCTGCAGCACCTTCAGCAT	0.488																																						dbGAP											0													97.0	78.0	85.0					22																	24709376		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.249A>C	22.37:g.24709376A>C			B7Z758|F5H1H6|O15081	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain	p.A83	ENST00000314328.9	37	c.249	CCDS33619.1	22																																																																																			SPECC1L	-	NULL	ENSG00000100014		0.488	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	115	0.85	1	A	NM_015330		24709376	24709376	+1	no_errors	ENST00000314328	ensembl	human	known	69_37n	silent	86	19.44	21	SNP	0.000	C
SPEG	10290	genome.wustl.edu	37	2	220326764	220326764	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:220326764A>C	ENST00000312358.7	+	7	2733	c.2601A>C	c.(2599-2601)gcA>gcC	p.A867A	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_Silent_p.A75A|SPEG_ENST00000396689.2_Silent_p.A18A|SPEG_ENST00000396698.1_Silent_p.A763A|SPEG_ENST00000396688.1_Silent_p.A18A|SPEG_ENST00000396686.1_Silent_p.A18A	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	867					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTCCAAGGCACCCCCCACCT	0.652																																						dbGAP											0													32.0	37.0	35.0					2																	220326764		1891	4110	6001	-	-	-	SO:0001819	synonymous_variant	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2601A>C	2.37:g.220326764A>C			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A75	ENST00000312358.7	37	c.225	CCDS42824.1	2																																																																																			SPEG	-	NULL	ENSG00000072195		0.652	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	56	0.00	0	A	NM_005876		220326764	220326764	+1	no_errors	ENST00000396695	ensembl	human	known	69_37n	silent	27	34.15	14	SNP	0.936	C
SPEN	23013	genome.wustl.edu	37	1	16257058	16257058	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:16257058A>C	ENST00000375759.3	+	11	4527	c.4323A>C	c.(4321-4323)acA>acC	p.T1441T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1441					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)		AGACAATCACACCAGACACTA	0.393																																						dbGAP											0													80.0	83.0	82.0					1																	16257058		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.4323A>C	1.37:g.16257058A>C			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.T1441	ENST00000375759.3	37	c.4323	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.393	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	89	0.00	0	A	NM_015001		16257058	16257058	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	silent	58	23.68	18	SNP	0.188	C
SPEN	23013	genome.wustl.edu	37	1	16257637	16257637	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:16257637A>C	ENST00000375759.3	+	11	5106	c.4902A>C	c.(4900-4902)ccA>ccC	p.P1634P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1634					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)		TGAAAACTCCACCTTCCGTTG	0.483																																						dbGAP											0													143.0	153.0	149.0					1																	16257637		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.4902A>C	1.37:g.16257637A>C			Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.P1634	ENST00000375759.3	37	c.4902	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.483	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	91	0.00	0	A	NM_015001		16257637	16257637	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	silent	45	23.73	14	SNP	0.000	C
SPEN	23013	genome.wustl.edu	37	1	16265894	16265894	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:16265894A>C	ENST00000375759.3	+	15	11171	c.10967A>C	c.(10966-10968)cAc>cCc	p.H3656P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3656	SPOC. {ECO:0000255|PROSITE- ProRule:PRU00249}.				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)		ATCTCTCCCCACCTCATGATT	0.557																																						dbGAP											0													216.0	205.0	209.0					1																	16265894		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.10967A>C	1.37:g.16265894A>C	ENSP00000364912:p.His3656Pro		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.H3656P	ENST00000375759.3	37	c.10967	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138062	0.56936	.	.	ENSG00000065526	ENST00000375759	T	0.15139	2.45	5.93	5.93	0.95920	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);Spen paralogue/orthologue C-terminal, metazoa (1);	.	.	.	.	T	0.50017	0.1591	M	0.88310	2.945	0.58432	D	0.999999	D	0.65815	0.995	D	0.77004	0.989	T	0.58730	-0.7585	9	0.87932	D	0	-22.6969	16.3871	0.83514	1.0:0.0:0.0:0.0	.	3656	Q96T58	MINT_HUMAN	P	3656	ENSP00000364912:H3656P	ENSP00000364912:H3656P	H	+	2	0	SPEN	16138481	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.247000	0.95444	2.265000	0.75225	0.533000	0.62120	CAC	SPEN	-	superfamily_SPOC-like,pfscan_SPOC_met	ENSG00000065526		0.557	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	172	0.57	1	A	NM_015001		16265894	16265894	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	missense	174	13.73	28	SNP	1.000	C
SPINT1	6692	genome.wustl.edu	37	15	41145364	41145364	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:41145364T>G	ENST00000344051.4	+	3	752	c.518T>G	c.(517-519)gTa>gGa	p.V173G	SPINT1_ENST00000431806.1_Missense_Mutation_p.V173G|SPINT1_ENST00000562057.1_Missense_Mutation_p.V173G			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	173					branching involved in labyrinthine layer morphogenesis (GO:0060670)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|placenta blood vessel development (GO:0060674)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GACTTGAAGGTACAACCCCAG	0.562																																						dbGAP											0													162.0	154.0	156.0					15																	41145364		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS10067.1, CCDS45231.1	15q13.3	2008-02-05	2005-08-17		ENSG00000166145	ENSG00000166145			11246	protein-coding gene	gene with protein product		605123	"""serine protease inhibitor, Kunitz type 1"""				Standard	XM_006720657		Approved	HAI, MANSC2	uc001zna.3	O43278	OTTHUMG00000130068	ENST00000344051.4:c.518T>G	15.37:g.41145364T>G	ENSP00000342098:p.Val173Gly		Q7Z7D2	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,pfam_MANSC_N,pfam_LDrepeatLR_classA_rpt,superfamily_Prot_inh_Kunz-m,superfamily_LDrepeatLR_classA_rpt,superfamily_PKD_dom,smart_MANSC_N,smart_Prot_inh_Kunz-m,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_MANSC,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.V173G	ENST00000344051.4	37	c.518	CCDS10067.1	15	.	.	.	.	.	.	.	.	.	.	T	18.89	3.719924	0.68844	.	.	ENSG00000166145	ENST00000344051;ENST00000536281;ENST00000431806	D;D	0.96967	-4.18;-4.19	5.33	5.33	0.75918	.	0.175476	0.49916	D	0.000125	D	0.97898	0.9309	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	D	0.98703	1.0701	10	0.87932	D	0	-9.9725	13.5105	0.61508	0.0:0.0:0.0:1.0	.	173;173;173	B2RBU9;O43278-2;O43278	.;.;SPIT1_HUMAN	G	173;140;173	ENSP00000342098:V173G;ENSP00000409935:V173G	ENSP00000342098:V173G	V	+	2	0	SPINT1	38932656	1.000000	0.71417	0.979000	0.43373	0.582000	0.36321	5.141000	0.64814	2.007000	0.58848	0.459000	0.35465	GTA	SPINT1	-	NULL	ENSG00000166145		0.562	SPINT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPINT1	HGNC	protein_coding	OTTHUMT00000252359.2	225	0.00	0	T	NM_003710		41145364	41145364	+1	no_errors	ENST00000344051	ensembl	human	known	69_37n	missense	127	11.81	17	SNP	0.996	G
SPOCK2	9806	genome.wustl.edu	37	10	73831962	73831962	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:73831962A>C	ENST00000373109.2	-	4	743	c.299T>G	c.(298-300)gTg>gGg	p.V100G	SPOCK2_ENST00000536168.1_Missense_Mutation_p.V100G|SPOCK2_ENST00000317376.4_Missense_Mutation_p.V100G	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	100					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGCAATGCACACCTTGTGGCG	0.632																																						dbGAP											0													62.0	55.0	57.0					10																	73831962		2199	4288	6487	-	-	-	SO:0001583	missense	0			AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.299T>G	10.37:g.73831962A>C	ENSP00000362201:p.Val100Gly		C9J767|Q6UW87	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.V100G	ENST00000373109.2	37	c.299	CCDS7313.1	10	.	.	.	.	.	.	.	.	.	.	A	25.1	4.598996	0.87055	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	T;T	0.60548	0.18;0.2	4.9	4.9	0.64082	.	0.069755	0.56097	D	0.000022	T	0.75110	0.3805	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78934	-0.2008	10	0.87932	D	0	.	14.2214	0.65830	1.0:0.0:0.0:0.0	.	100	Q92563	TICN2_HUMAN	G	97;100;100	ENSP00000321108:V100G;ENSP00000439445:V100G	ENSP00000321108:V100G	V	-	2	0	SPOCK2	73501968	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.260000	0.78391	1.823000	0.53134	0.460000	0.39030	GTG	SPOCK2	-	NULL	ENSG00000107742		0.632	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK2	HGNC	protein_coding	OTTHUMT00000048560.2	146	0.66	1	A			73831962	73831962	-1	no_errors	ENST00000317376	ensembl	human	known	69_37n	missense	151	12.99	23	SNP	1.000	C
SPRR1A	6698	genome.wustl.edu	37	1	152957748	152957748	+	Silent	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:152957748T>C	ENST00000368762.1	+	1	42	c.42T>C	c.(40-42)ccT>ccC	p.P14P	SPRR1A_ENST00000307122.2_Silent_p.P14P			P35321	SPR1A_HUMAN	small proline-rich protein 1A	14	2 X 12 AA approximate repeats.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCACCCCCTCAGCCTCAGC	0.522																																						dbGAP											0													119.0	119.0	119.0					1																	152957748		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L05187	CCDS1032.1	1q21-q22	2008-02-05			ENSG00000169474	ENSG00000169474			11259	protein-coding gene	gene with protein product		182265				8325635	Standard	NM_005987		Approved		uc001faw.3	P35321	OTTHUMG00000014404	ENST00000368762.1:c.42T>C	1.37:g.152957748T>C			B1AN47|D3DV31|Q2M303|Q9UDG4	Silent	SNP	pfam_Cornifin	p.P14	ENST00000368762.1	37	c.42	CCDS1032.1	1																																																																																			SPRR1A	-	NULL	ENSG00000169474		0.522	SPRR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRR1A	HGNC	protein_coding	OTTHUMT00000040062.1	243	0.00	0	T	NM_005987		152957748	152957748	+1	no_errors	ENST00000307122	ensembl	human	known	69_37n	silent	304	11.85	41	SNP	0.363	C
SPRY3	10251	genome.wustl.edu	37	X	155003851	155003851	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:155003851A>C	ENST00000302805.2	+	2	749	c.318A>C	c.(316-318)tcA>tcC	p.S106S		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	106					multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTACACCCTCACCTTCAGGCC	0.562																																						dbGAP											0													150.0	132.0	138.0					X																	155003851		2203	4296	6499	-	-	-	SO:0001819	synonymous_variant	0			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.318A>C	X.37:g.155003851A>C			A8K0H8	Silent	SNP	pfam_Sprouty	p.S106	ENST00000302805.2	37	c.318	CCDS14769.4	X																																																																																			SPRY3	-	NULL	ENSG00000168939		0.562	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	HGNC	protein_coding	OTTHUMT00000058823.2	168	0.58	1	A	NM_005840		155003851	155003851	+1	no_errors	ENST00000302805	ensembl	human	known	69_37n	silent	129	16.67	26	SNP	0.996	C
SPSB2	84727	genome.wustl.edu	37	12	6981575	6981575	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:6981575G>C	ENST00000524270.1	-	2	677	c.491C>G	c.(490-492)cCa>cGa	p.P164R	SPSB2_ENST00000523102.1_Missense_Mutation_p.P164R|SPSB2_ENST00000519357.1_Missense_Mutation_p.P164R|RPL13P5_ENST00000412023.1_RNA|LRRC23_ENST00000433346.1_5'Flank	NM_032641.3	NP_116030.1	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	164	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						CAGTCTCTCTGGCACCTCCAG	0.652											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													83.0	81.0	82.0					12																	6981575		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF403027	CCDS8567.1	12p13.31	2008-02-05				ENSG00000111671			29522	protein-coding gene	gene with protein product		611658				8723724, 12076535	Standard	NM_001146316		Approved	GRCC9, SSB-2	uc001qrl.3	Q99619		ENST00000524270.1:c.491C>G	12.37:g.6981575G>C	ENSP00000428338:p.Pro164Arg	638	B7Z4W1|D3DUT0	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.P164R	ENST00000524270.1	37	c.491	CCDS8567.1	12	.	.	.	.	.	.	.	.	.	.	G	17.34	3.366117	0.61513	.	.	ENSG00000111671	ENST00000523102;ENST00000524270;ENST00000519357	T;T;T	0.60171	0.21;0.21;0.21	3.93	3.04	0.35103	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000003	T	0.79094	0.4388	M	0.93197	3.39	0.45914	D	0.998757	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.97	T	0.81099	-0.1086	10	0.59425	D	0.04	.	9.5312	0.39196	0.1062:0.0:0.8938:0.0	.	164;164	B7Z4W1;Q99619	.;SPSB2_HUMAN	R	164	ENSP00000430872:P164R;ENSP00000428338:P164R;ENSP00000431037:P164R	ENSP00000431037:P164R	P	-	2	0	SPSB2	6851836	1.000000	0.71417	0.963000	0.40424	0.618000	0.37518	9.555000	0.98123	0.986000	0.38683	-0.251000	0.11542	CCA	SPSB2	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000111671		0.652	SPSB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB2	HGNC	protein_coding	OTTHUMT00000375721.1	81	0.00	0	G	NM_032641		6981575	6981575	-1	no_errors	ENST00000523102	ensembl	human	known	69_37n	missense	60	28.57	24	SNP	0.996	C
SRCAP	10847	genome.wustl.edu	37	16	30734381	30734381	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:30734381A>C	ENST00000262518.4	+	24	4375	c.3990A>C	c.(3988-3990)gcA>gcC	p.A1330A	SRCAP_ENST00000395059.2_Silent_p.A1268A|SRCAP_ENST00000344771.4_Silent_p.A1172A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1330	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGGCCCCAGCACCCCGGCCTC	0.602																																						dbGAP											0													80.0	82.0	81.0					16																	30734381		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.3990A>C	16.37:g.30734381A>C			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.A1330	ENST00000262518.4	37	c.3990	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.602	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	141	0.69	1	A	NM_006662		30734381	30734381	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	silent	130	24.71	43	SNP	0.998	C
SSC4D	136853	genome.wustl.edu	37	7	76033635	76033635	+	Missense_Mutation	SNP	A	A	G	rs200173494	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:76033635A>G	ENST00000275560.3	-	2	469	c.122T>C	c.(121-123)cTc>cCc	p.L41P	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1														autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CAGTGGCAGGAGGAGAAGGAA	0.567																																						dbGAP											0													74.0	67.0	70.0					7																	76033635		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000275560.3:c.122T>C	7.37:g.76033635A>G	ENSP00000275560:p.Leu41Pro			Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.L41P	ENST00000275560.3	37	c.122	CCDS5585.1	7	.	.	.	.	.	.	.	.	.	.	A	17.28	3.349240	0.61183	.	.	ENSG00000146700	ENST00000275560	T	0.01446	4.88	5.03	5.03	0.67393	.	0.107611	0.38164	N	0.001797	T	0.07413	0.0187	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	T	0.36187	-0.9758	10	0.29301	T	0.29	.	11.3192	0.49410	1.0:0.0:0.0:0.0	.	41	Q8WTU2	SRB4D_HUMAN	P	41	ENSP00000275560:L41P	ENSP00000275560:L41P	L	-	2	0	SRCRB4D	75871571	1.000000	0.71417	0.991000	0.47740	0.735000	0.41995	4.090000	0.57693	2.243000	0.73865	0.455000	0.32223	CTC	SRCRB4D	-	NULL	ENSG00000146700		0.567	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCRB4D	HGNC	protein_coding	OTTHUMT00000253001.3	186	0.53	1	A			76033635	76033635	-1	no_errors	ENST00000275560	ensembl	human	known	69_37n	missense	105	16.67	21	SNP	0.995	G
SREK1	140890	genome.wustl.edu	37	5	65466527	65466527	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:65466527T>G	ENST00000380918.3	+	10	1548	c.888T>G	c.(886-888)ggT>ggG	p.G296G	SREK1_ENST00000334121.6_Silent_p.G412G|SREK1_ENST00000284041.3_3'UTR	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1	296	Arg/Glu/Lys/Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						AGGAACGGGGTAAAAACAAAG	0.448																																					GBM(10;31 347 27684 38976 41583)	dbGAP											0													71.0	81.0	78.0					5																	65466527		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.888T>G	5.37:g.65466527T>G			A4FTW3|Q2M1J0|Q86X37	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.G412	ENST00000380918.3	37	c.1236	CCDS3991.1	5																																																																																			SREK1	-	NULL	ENSG00000153914		0.448	SREK1-002	KNOWN	basic|CCDS	protein_coding	SREK1	HGNC	protein_coding	OTTHUMT00000381118.1	361	0.00	0	T	NM_001077199		65466527	65466527	+1	no_errors	ENST00000334121	ensembl	human	known	69_37n	silent	212	13.06	32	SNP	0.999	G
SRRM1	10250	genome.wustl.edu	37	1	24981553	24981553	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:24981553A>C	ENST00000323848.9	+	9	1563	c.1248A>C	c.(1246-1248)acA>acC	p.T416T	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.H298P|SRRM1_ENST00000447431.2_Silent_p.T416T|SRRM1_ENST00000374389.4_Silent_p.T411T	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	416	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ATTCCCCTACACCCCAGCAGT	0.483																																					Ovarian(68;897 1494 3282 17478)	dbGAP											0													109.0	103.0	105.0					1																	24981553		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1248A>C	1.37:g.24981553A>C			O60585|Q5VVN4	Missense_Mutation	SNP	superfamily_PWI	p.H298P	ENST00000323848.9	37	c.893	CCDS255.1	1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.558640	0.27827	.	.	ENSG00000133226	ENST00000537199	T	0.53206	0.63	5.84	4.69	0.59074	.	.	.	.	.	T	0.46718	0.1407	.	.	.	0.22754	N	0.998775	.	.	.	.	.	.	T	0.48055	-0.9068	6	0.87932	D	0	-4.1372	5.4328	0.16463	0.6453:0.0:0.0738:0.2809	.	.	.	.	P	298	ENSP00000441776:H298P	ENSP00000441776:H298P	H	+	2	0	SRRM1	24854140	0.095000	0.21747	1.000000	0.80357	0.992000	0.81027	-0.680000	0.05197	0.996000	0.38943	0.528000	0.53228	CAC	SRRM1	-	NULL	ENSG00000133226		0.483	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM1	HGNC	protein_coding	OTTHUMT00000009292.2	206	0.00	0	A	NM_005839		24981553	24981553	+1	no_errors	ENST00000537199	ensembl	human	known	69_37n	missense	201	12.12	28	SNP	1.000	C
SSC5D	284297	genome.wustl.edu	37	19	56006063	56006063	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:56006063A>C	ENST00000389623.6	+	8	1323	c.1300A>C	c.(1300-1302)Acc>Ccc	p.T434P	SSC5D_ENST00000587166.1_Missense_Mutation_p.T434P	NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	434					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						GCCCCCGTCCACCATGACGAG	0.692																																						dbGAP											0													28.0	46.0	40.0					19																	56006063		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.1300A>C	19.37:g.56006063A>C	ENSP00000374274:p.Thr434Pro		B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.T434P	ENST00000389623.6	37	c.1300	CCDS46196.1	19	.	.	.	.	.	.	.	.	.	.	A	3.902	-0.021847	0.07634	.	.	ENSG00000179954	ENST00000389623;ENST00000541230	T	0.01258	5.09	3.29	-0.289	0.12851	.	.	.	.	.	T	0.00998	0.0033	N	0.11560	0.145	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47169	-0.9138	9	0.29301	T	0.29	.	9.0343	0.36277	0.5226:0.4774:0.0:0.0	.	434	A1L4H1	SRCRL_HUMAN	P	434	ENSP00000374274:T434P	ENSP00000374274:T434P	T	+	1	0	SSC5D	60697875	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.267000	0.08619	-0.045000	0.13468	-0.686000	0.03744	ACC	SSC5D	-	NULL	ENSG00000179954		0.692	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	56	0.00	0	A	XM_001718392		56006063	56006063	+1	no_errors	ENST00000389623	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	0.001	C
SSC5D	284297	genome.wustl.edu	37	19	56029241	56029241	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:56029241A>C	ENST00000389623.6	+	14	3621	c.3598A>C	c.(3598-3600)Acc>Ccc	p.T1200P		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1200	Pro-rich.|Thr-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						tcctgaccccaccacaacccc	0.592																																						dbGAP											0													332.0	355.0	348.0					19																	56029241		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.3598A>C	19.37:g.56029241A>C	ENSP00000374274:p.Thr1200Pro		B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.T1200P	ENST00000389623.6	37	c.3598	CCDS46196.1	19	.	.	.	.	.	.	.	.	.	.	-	5.030	0.191163	0.09547	.	.	ENSG00000179954	ENST00000389623	T	0.01265	5.08	2.58	1.52	0.23074	.	.	.	.	.	T	0.01454	0.0047	M	0.65498	2.005	0.09310	N	1	P	0.49090	0.919	B	0.31686	0.134	T	0.50276	-0.8847	9	0.32370	T	0.25	.	4.415	0.11452	0.8198:0.0:0.1802:0.0	.	1200	A1L4H1	SRCRL_HUMAN	P	1200	ENSP00000374274:T1200P	ENSP00000374274:T1200P	T	+	1	0	SSC5D	60721053	0.000000	0.05858	0.010000	0.14722	0.118000	0.20060	-0.464000	0.06688	0.104000	0.17725	0.228000	0.17796	ACC	SSC5D	-	NULL	ENSG00000179954		0.592	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	337	0.88	3	A	XM_001718392		56029241	56029241	+1	no_errors	ENST00000389623	ensembl	human	known	69_37n	missense	483	11.13	61	SNP	0.008	C
SSC5D	284297	genome.wustl.edu	37	19	56029421	56029421	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:56029421A>C	ENST00000389623.6	+	14	3801	c.3778A>C	c.(3778-3780)Acc>Ccc	p.T1260P		NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	1260	Pro-rich.|Thr-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						tcctgaccccaccacaacccc	0.632																																						dbGAP											0													386.0	496.0	463.0					19																	56029421		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.3778A>C	19.37:g.56029421A>C	ENSP00000374274:p.Thr1260Pro		B5MDQ5|C7S7T9|C7S7U0|K7EP70	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.T1260P	ENST00000389623.6	37	c.3778	CCDS46196.1	19	.	.	.	.	.	.	.	.	.	.	-	9.189	1.025592	0.19512	.	.	ENSG00000179954	ENST00000389623	T	0.01369	4.97	2.84	0.461	0.16689	.	.	.	.	.	T	0.01124	0.0037	L	0.28192	0.835	0.09310	N	1	P	0.52061	0.95	B	0.40825	0.341	T	0.50338	-0.8840	9	0.87932	D	0	.	2.2889	0.04134	0.6019:0.0:0.1539:0.2442	.	1260	A1L4H1	SRCRL_HUMAN	P	1260	ENSP00000374274:T1260P	ENSP00000374274:T1260P	T	+	1	0	SSC5D	60721233	0.022000	0.18835	0.012000	0.15200	0.159000	0.22180	0.109000	0.15417	-0.243000	0.09653	0.235000	0.17854	ACC	SSC5D	-	NULL	ENSG00000179954		0.632	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	511	0.58	3	A	XM_001718392		56029421	56029421	+1	no_errors	ENST00000389623	ensembl	human	known	69_37n	missense	622	15.65	116	SNP	0.006	C
SSPO	23145	genome.wustl.edu	37	7	149483201	149483201	+	RNA	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:149483201T>G	ENST00000378016.2	+	0	3269							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGAATGGGGTGAGCGTGACG	0.642																																						dbGAP											0													41.0	49.0	47.0					7																	149483201		2103	4222	6325	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149483201T>G			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.642	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		48	0.00	0	T			149483201	149483201	+1	no_errors	ENST00000262089	ensembl	human	known	69_37n	rna	30	18.92	7	SNP	0.979	G
SSU72	29101	genome.wustl.edu	37	1	1477475	1477475	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:1477475T>G	ENST00000291386.3	-	5	867	c.556A>C	c.(556-558)Acc>Ccc	p.T186P	TMEM240_ENST00000425828.1_5'Flank|TMEM240_ENST00000378733.4_5'Flank	NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	186					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TGCAGAAAGGTGCGGCCACTC	0.567																																						dbGAP											0													111.0	78.0	89.0					1																	1477475		2200	4296	6496	-	-	-	SO:0001583	missense	0			AJ276409	CCDS32.1	1p36	2010-03-24	2006-04-04		ENSG00000160075	ENSG00000160075			25016	protein-coding gene	gene with protein product			"""Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)"""			15125841, 15659578	Standard	NM_014188		Approved	HSPC182	uc001agd.3	Q9NP77	OTTHUMG00000000576	ENST00000291386.3:c.556A>C	1.37:g.1477475T>G	ENSP00000291386:p.Thr186Pro		Q9BZS6|Q9H933	Missense_Mutation	SNP	pfam_RNA_pol_II_suA,superfamily_Ptyr_pPase_SF	p.T186P	ENST00000291386.3	37	c.556	CCDS32.1	1	.	.	.	.	.	.	.	.	.	.	T	5.030	0.191245	0.09547	.	.	ENSG00000160075	ENST00000291386;ENST00000378726	T	0.40225	1.04	5.07	-6.67	0.01783	.	0.243095	0.41194	D	0.000935	T	0.13670	0.0331	N	0.05441	-0.05	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16217	-1.0410	10	0.13853	T	0.58	-35.8219	6.2034	0.20590	0.2242:0.1161:0.0:0.6596	.	186	Q9NP77	SSU72_HUMAN	P	186;103	ENSP00000291386:T186P	ENSP00000291386:T186P	T	-	1	0	SSU72	1467338	1.000000	0.71417	0.001000	0.08648	0.017000	0.09413	1.890000	0.39728	-1.206000	0.02641	-0.333000	0.08304	ACC	SSU72	-	pfam_RNA_pol_II_suA	ENSG00000160075		0.567	SSU72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSU72	HGNC	protein_coding	OTTHUMT00000001366.1	122	0.81	1	T	NM_014188		1477475	1477475	-1	no_errors	ENST00000291386	ensembl	human	known	69_37n	missense	58	21.62	16	SNP	0.498	G
ST6GALNAC6	30815	genome.wustl.edu	37	9	130658581	130658581	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:130658581T>G	ENST00000373146.1	-	3	236	c.57A>C	c.(55-57)ccA>ccC	p.P19P	ST6GALNAC6_ENST00000373141.1_5'UTR|ST6GALNAC6_ENST00000373144.3_5'UTR|ST6GALNAC6_ENST00000373142.1_Silent_p.P19P|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Silent_p.P19P|ST6GALNAC6_ENST00000542456.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	19					cell-cell recognition (GO:0009988)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTCCTGCAGGTGGCCCTGGGG	0.552																																						dbGAP											0													145.0	141.0	142.0					9																	130658581		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC006564	CCDS6882.1, CCDS69668.1, CCDS69669.1, CCDS75908.1	9q34.13	2013-03-01		2005-02-07	ENSG00000160408	ENSG00000160408		"""Sialyltransferases"""	23364	protein-coding gene	gene with protein product		610135	"""sialytransferase 7 ((alpha-N-acetylneuraminyl 2,3-betagalactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialytransferase) F"""	SIAT7F		12668675	Standard	XM_005251952		Approved	ST6GALNACVI	uc004bso.1	Q969X2	OTTHUMG00000020718	ENST00000373146.1:c.57A>C	9.37:g.130658581T>G			B3KQ01|Q5T9C4|Q5T9C5|Q9H8A2|Q9ULB8	Silent	SNP	pfam_Glyco_trans_29	p.P19	ENST00000373146.1	37	c.57	CCDS6882.1	9																																																																																			ST6GALNAC6	-	NULL	ENSG00000160408		0.552	ST6GALNAC6-007	KNOWN	basic|CCDS	protein_coding	ST6GALNAC6	HGNC	protein_coding	OTTHUMT00000054278.1	206	0.96	2	T	NM_013443		130658581	130658581	-1	no_errors	ENST00000291839	ensembl	human	known	69_37n	silent	225	14.12	37	SNP	0.452	G
STAB1	23166	genome.wustl.edu	37	3	52555444	52555444	+	Missense_Mutation	SNP	T	T	G	rs577898345		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:52555444T>G	ENST00000321725.6	+	56	6052	c.5976T>G	c.(5974-5976)agT>agG	p.S1992R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1992	Laminin EGF-like 2. {ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGAGTGGCAGTGGGCAGTGTC	0.637																																						dbGAP											0													215.0	191.0	199.0					3																	52555444		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.5976T>G	3.37:g.52555444T>G	ENSP00000312946:p.Ser1992Arg		A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.S1992R	ENST00000321725.6	37	c.5976	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	T	18.06	3.539604	0.65085	.	.	ENSG00000010327	ENST00000321725	D	0.84223	-1.82	5.11	-6.84	0.01687	EGF-like, laminin (1);Epidermal growth factor-like, type 3 (1);	0.198025	0.43919	D	0.000505	D	0.82986	0.5156	L	0.51914	1.62	0.23204	N	0.998121	D	0.67145	0.996	D	0.64595	0.927	T	0.74234	-0.3731	10	0.62326	D	0.03	.	4.1502	0.10234	0.1068:0.4119:0.0905:0.3908	.	1992	Q9NY15	STAB1_HUMAN	R	1992	ENSP00000312946:S1992R	ENSP00000312946:S1992R	S	+	3	2	STAB1	52530484	0.000000	0.05858	0.622000	0.29159	0.908000	0.53690	-6.490000	0.00064	-0.992000	0.03472	0.260000	0.18958	AGT	STAB1	-	smart_EGF-like_Ca-bd,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000010327		0.637	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	231	0.43	1	T	NM_015136		52555444	52555444	+1	no_errors	ENST00000321725	ensembl	human	known	69_37n	missense	236	11.57	31	SNP	0.015	G
STAM	8027	genome.wustl.edu	37	10	17756740	17756740	+	Silent	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:17756740T>C	ENST00000377524.3	+	14	1799	c.1584T>C	c.(1582-1584)ccT>ccC	p.P528P	STAM_ENST00000540523.1_Silent_p.P417P	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	528					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AACAGCCACCTCAGCCACAGC	0.498																																						dbGAP											0													122.0	114.0	117.0					10																	17756740		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1584T>C	10.37:g.17756740T>C			B0YJ99|D3DRU5|Q8N6D9	Silent	SNP	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.P528	ENST00000377524.3	37	c.1584	CCDS7122.1	10																																																																																			STAM	-	NULL	ENSG00000136738		0.498	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	HGNC	protein_coding	OTTHUMT00000047039.1	143	0.69	1	T	NM_003473		17756740	17756740	+1	no_errors	ENST00000377524	ensembl	human	known	69_37n	silent	77	14.29	13	SNP	0.996	C
STARD10	10809	genome.wustl.edu	37	11	72492156	72492156	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:72492156A>C	ENST00000334805.6	-	2	990	c.71T>G	c.(70-72)gTg>gGg	p.V24G	ARAP1_ENST00000359373.5_Intron|STARD10_ENST00000538437.1_5'UTR|STARD10_ENST00000543304.1_Missense_Mutation_p.V24G|STARD10_ENST00000538536.1_Splice_Site|STARD10_ENST00000545082.1_Missense_Mutation_p.V24G|MIR4692_ENST00000583200.1_RNA	NM_006645.2	NP_006636.2	Q9Y365	PCTL_HUMAN	StAR-related lipid transfer (START) domain containing 10	24	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid secretion (GO:0032782)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)	cytosol (GO:0005829)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|microvillus (GO:0005902)	lipid binding (GO:0008289)			endometrium(4)|large_intestine(1)|lung(2)|prostate(1)	8			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)			GTCATCGGGCACCTGGACACT	0.657																																						dbGAP											0													73.0	82.0	79.0					11																	72492156		2085	4193	6278	-	-	-	SO:0001583	missense	0			AF039696	CCDS41688.1	11q13	2011-09-12	2007-08-16	2003-02-07		ENSG00000214530		"""StAR-related lipid transfer (START) domain containing"""	10666	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 28"", ""START domain containing 10"""	SDCCAG28		9610721	Standard	NM_006645		Approved	NY-CO-28, CGI-52, PCTP2	uc001otb.3	Q9Y365		ENST00000334805.6:c.71T>G	11.37:g.72492156A>C	ENSP00000335247:p.Val24Gly		O60532	Splice_Site	SNP	-	e1+2	ENST00000334805.6	37	c.69+2	CCDS41688.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.48|17.48	3.401209|3.401209	0.62288|0.62288	.|.	.|.	ENSG00000214530|ENSG00000214530	ENST00000538536;ENST00000535054|ENST00000543304;ENST00000334805;ENST00000545082;ENST00000537947;ENST00000542989;ENST00000546314;ENST00000539138;ENST00000536290;ENST00000536377	.|T;T;T;T;T;T;T	.|0.77620	.|1.48;1.48;-1.11;1.48;1.48;1.48;1.48	3.97|3.97	3.97|3.97	0.46021|0.46021	.|Lipid-binding START (1);START-like domain (1);	.|0.189408	.|0.36200	.|U	.|0.002722	.|T	.|0.78046	.|0.4222	L|L	0.54323|0.54323	1.7|1.7	0.51767|0.51767	D|D	0.999932|0.999932	.|P	.|0.50819	.|0.939	.|P	.|0.52598	.|0.703	.|T	.|0.74850	.|-0.3524	.|10	.|0.25751	.|T	.|0.34	.|-37.6184	10.8469|10.8469	0.46748|0.46748	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|24	.|Q9Y365	.|PCTL_HUMAN	.|G	-1|24	.|ENSP00000438792:V24G;ENSP00000335247:V24G;ENSP00000443548:V24G;ENSP00000445657:V24G;ENSP00000443597:V24G;ENSP00000445886:V24G;ENSP00000443523:V24G	.|ENSP00000335247:V24G	.|V	-|-	.|2	.|0	STARD10|STARD10	72169804|72169804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	5.238000|5.238000	0.65366|0.65366	1.658000|1.658000	0.50742|0.50742	0.379000|0.379000	0.24179|0.24179	.|GTG	STARD10	-	-	ENSG00000214530		0.657	STARD10-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STARD10	HGNC	protein_coding	OTTHUMT00000397254.1	71	0.00	0	A			72492156	72492156	-1	no_errors	ENST00000538536	ensembl	human	novel	69_37n	splice_site	55	19.12	13	SNP	1.000	C
STARD9	57519	genome.wustl.edu	37	15	42979671	42979671	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:42979671T>G	ENST00000290607.7	+	23	5952	c.5895T>G	c.(5893-5895)ggT>ggG	p.G1965G		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	1965					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TGGCCCAGGGTGGTGGCCCAA	0.478																																						dbGAP											0													45.0	51.0	49.0					15																	42979671		692	1590	2282	-	-	-	SO:0001819	synonymous_variant	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.5895T>G	15.37:g.42979671T>G			Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Silent	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G1965	ENST00000290607.7	37	c.5895	CCDS53935.1	15																																																																																			STARD9	-	NULL	ENSG00000159433		0.478	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	117	0.85	1	T			42979671	42979671	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	silent	50	21.54	14	SNP	0.000	G
STON2	85439	genome.wustl.edu	37	14	81862359	81862359	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:81862359T>G	ENST00000267540.2	-	2	452	c.252A>C	c.(250-252)ccA>ccC	p.P84P	STON2_ENST00000555447.1_Silent_p.P84P	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	84					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GGCTCCCAGGTGGGGAAGCTG	0.592																																						dbGAP											0													90.0	91.0	91.0					14																	81862359		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.252A>C	14.37:g.81862359T>G			G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.P84	ENST00000267540.2	37	c.252	CCDS9875.1	14																																																																																			STON2	-	pfam_Stonin2_N,pirsf_Stonin	ENSG00000140022		0.592	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	102	0.00	0	T	NM_033104		81862359	81862359	-1	no_errors	ENST00000267540	ensembl	human	known	69_37n	silent	106	15.87	20	SNP	0.222	G
STRA6	64220	genome.wustl.edu	37	15	74477358	74477358	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:74477358T>G	ENST00000323940.5	-	13	1374	c.1129A>C	c.(1129-1131)Acc>Ccc	p.T377P	STRA6_ENST00000563965.1_Missense_Mutation_p.T416P|STRA6_ENST00000574278.1_Missense_Mutation_p.T392P|STRA6_ENST00000395105.4_Missense_Mutation_p.T377P|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Missense_Mutation_p.T369P|STRA6_ENST00000449139.2_Missense_Mutation_p.T377P|STRA6_ENST00000535552.1_Missense_Mutation_p.T414P|STRA6_ENST00000423167.2_Missense_Mutation_p.T368P	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	377					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						ACCAGGAAGGTGAGTAAGCAG	0.592																																						dbGAP											0													182.0	153.0	162.0					15																	74477358		2198	4297	6495	-	-	-	SO:0001583	missense	0			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1129A>C	15.37:g.74477358T>G	ENSP00000326085:p.Thr377Pro		A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	NULL	p.T416P	ENST00000323940.5	37	c.1246	CCDS10261.1	15	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233847	0.79688	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	5.0	5.0	0.66597	.	0.097617	0.64402	D	0.000002	D	0.87450	0.6180	M	0.71581	2.175	0.80722	D	1	D;D;D;D;D;D	0.62365	0.991;0.991;0.991;0.991;0.991;0.989	D;D;D;D;D;P	0.63381	0.914;0.914;0.914;0.914;0.914;0.885	D	0.88337	0.2972	10	0.54805	T	0.06	-30.4909	14.3903	0.66973	0.0:0.0:0.0:1.0	.	414;415;368;377;416;186	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	P	377;377;309;186;416;368;414;267	ENSP00000378537:T377P;ENSP00000326085:T377P;ENSP00000413012:T368P;ENSP00000440238:T414P	ENSP00000326085:T377P	T	-	1	0	STRA6	72264411	1.000000	0.71417	0.957000	0.39632	0.971000	0.66376	4.164000	0.58190	1.876000	0.54355	0.459000	0.35465	ACC	STRA6	-	NULL	ENSG00000137868		0.592	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA6	HGNC	protein_coding	OTTHUMT00000272891.1	251	0.78	2	T			74477358	74477358	-1	no_errors	ENST00000563965	ensembl	human	known	69_37n	missense	148	14.37	25	SNP	1.000	G
STX1A	6804	genome.wustl.edu	37	7	73114731	73114731	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:73114731T>G	ENST00000222812.3	-	0	899				STX1A_ENST00000395156.3_3'UTR|STX1A_ENST00000484736.1_5'UTR|WBSCR22_ENST00000423166.2_Intron	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)						calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GCAGTTTGGGTGGCTTCTAGG	0.622																																						dbGAP											0													69.0	58.0	62.0					7																	73114731		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.*6A>C	7.37:g.73114731T>G			O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	RNA	SNP	-	NULL	ENST00000222812.3	37	NULL	CCDS34655.1	7																																																																																			STX1A	-	-	ENSG00000106089		0.622	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX1A	HGNC	protein_coding	OTTHUMT00000268422.1	94	0.00	0	T	NM_004603		73114731	73114731	-1	no_errors	ENST00000480126	ensembl	human	known	69_37n	rna	52	27.78	20	SNP	0.000	G
SUPT6H	6830	genome.wustl.edu	37	17	27028121	27028121	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:27028121T>C	ENST00000314616.6	+	36	5252	c.4969T>C	c.(4969-4971)Tcc>Ccc	p.S1657P	PROCA1_ENST00000579650.1_5'Flank|SUPT6H_ENST00000347486.4_Missense_Mutation_p.S1657P	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1657	Interaction with histone H2B and H3.|Poly-Ser.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CTCTTCCAGCTCCCGGCAACG	0.637																																						dbGAP											0													92.0	89.0	90.0					17																	27028121		2203	4300	6503	-	-	-	SO:0001583	missense	0			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4969T>C	17.37:g.27028121T>C	ENSP00000319104:p.Ser1657Pro		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.S1657P	ENST00000314616.6	37	c.4969	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	T	15.63	2.889316	0.52014	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.23	5.23	0.72850	.	0.570722	0.19399	N	0.115234	T	0.46229	0.1382	L	0.50333	1.59	0.58432	D	0.999991	P	0.50943	0.94	B	0.38655	0.278	T	0.47328	-0.9126	9	0.35671	T	0.21	-5.3058	14.8004	0.69909	0.0:0.0:0.0:1.0	.	1657	Q7KZ85	SPT6H_HUMAN	P	1657;657	.	ENSP00000319104:S1657P	S	+	1	0	SUPT6H	24052248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.002000	0.40835	1.995000	0.58328	0.528000	0.53228	TCC	SUPT6H	-	NULL	ENSG00000109111		0.637	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	190	0.52	1	T	NM_003170		27028121	27028121	+1	no_errors	ENST00000314616	ensembl	human	known	69_37n	missense	186	12.62	27	SNP	1.000	C
SUSD4	55061	genome.wustl.edu	37	1	223396674	223396674	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:223396674T>G	ENST00000343846.3	-	7	1994	c.1361A>C	c.(1360-1362)cAc>cCc	p.H454P	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.H454P|SUSD4_ENST00000484758.2_Missense_Mutation_p.H385P|SUSD4_ENST00000494793.2_Missense_Mutation_p.H454P|SUSD4_ENST00000454695.2_Missense_Mutation_p.H294P			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	454						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CGAAGCAGGGTGGGTGCTCTC	0.582																																						dbGAP											0													63.0	71.0	68.0					1																	223396674		2099	4232	6331	-	-	-	SO:0001583	missense	0			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.1361A>C	1.37:g.223396674T>G	ENSP00000344219:p.His454Pro		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.H454P	ENST00000343846.3	37	c.1361	CCDS41471.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	2.287|2.287	-0.363358|-0.363358	0.05103|0.05103	.|.	.|.	ENSG00000143502|ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000542750;ENST00000454695|ENST00000271787	T;T;T|.	0.28666|.	1.6;1.6;1.66|.	5.16|5.16	-0.132|-0.132	0.13489|0.13489	.|.	0.891237|.	0.09452|.	N|.	0.800265|.	T|T	0.19765|0.19765	0.0475|0.0475	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.24728|0.24728	-1.0152|-1.0152	9|6	.|0.66056	.|D	.|0.02	-3.1761|-3.1761	7.3721|7.3721	0.26808|0.26808	0.0:0.5326:0.1094:0.358|0.0:0.5326:0.1094:0.358	.|.	454|.	Q5VX71|.	SUSD4_HUMAN|.	P|P	454;454;385;294|229	ENSP00000344219:H454P;ENSP00000355843:H454P;ENSP00000399288:H294P|.	.|ENSP00000271787:T229P	H|T	-|-	2|1	0|0	SUSD4|SUSD4	221463297|221463297	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.001000|0.001000	0.01503|0.01503	-0.943000|-0.943000	0.03917|0.03917	-0.318000|-0.318000	0.08665|0.08665	-0.250000|-0.250000	0.11733|0.11733	CAC|ACC	SUSD4	-	NULL	ENSG00000143502		0.582	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	106	0.00	0	T	NM_017982		223396674	223396674	-1	no_errors	ENST00000343846	ensembl	human	known	69_37n	missense	96	22.58	28	SNP	0.000	G
SV2B	9899	genome.wustl.edu	37	15	91803619	91803619	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:91803619A>C	ENST00000394232.1	+	6	1458	c.988A>C	c.(988-990)Acc>Ccc	p.T330P	SV2B_ENST00000545111.2_Missense_Mutation_p.T179P|SV2B_ENST00000330276.4_Missense_Mutation_p.T330P	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	330					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGCTAAGGGGACCCCAGAGAA	0.453																																						dbGAP											0													122.0	121.0	121.0					15																	91803619		2198	4298	6496	-	-	-	SO:0001583	missense	0			AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.988A>C	15.37:g.91803619A>C	ENSP00000377779:p.Thr330Pro		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	p.T330P	ENST00000394232.1	37	c.988	CCDS10370.1	15	.	.	.	.	.	.	.	.	.	.	A	12.85	2.062145	0.36373	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.62232	0.06;0.04;0.04	4.72	-1.73	0.08081	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.502023	0.22358	N	0.061105	T	0.32436	0.0829	N	0.01874	-0.695	0.18873	N	0.999988	B	0.26975	0.165	B	0.38156	0.266	T	0.35325	-0.9793	10	0.30854	T	0.27	-7.2903	5.3305	0.15930	0.384:0.0:0.4692:0.1467	.	330	Q7L1I2	SV2B_HUMAN	P	179;330;330	ENSP00000443243:T179P;ENSP00000377779:T330P;ENSP00000332818:T330P	ENSP00000332818:T330P	T	+	1	0	SV2B	89604623	0.001000	0.12720	0.975000	0.42487	0.994000	0.84299	-0.073000	0.11468	-0.258000	0.09446	0.459000	0.35465	ACC	SV2B	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2_chordata	ENSG00000185518		0.453	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	HGNC	protein_coding	OTTHUMT00000313494.3	267	0.74	2	A	NM_014848		91803619	91803619	+1	no_errors	ENST00000330276	ensembl	human	known	69_37n	missense	162	15.03	29	SNP	0.086	C
SVIL	6840	genome.wustl.edu	37	10	29818674	29818674	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:29818674T>G	ENST00000355867.4	-	12	2958	c.2206A>C	c.(2206-2208)Acc>Ccc	p.T736P	SVIL_ENST00000375400.3_Missense_Mutation_p.T342P|SVIL_ENST00000375398.2_Missense_Mutation_p.T736P	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	736					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ATGGGCTGGGTGAGGGACCTG	0.478																																						dbGAP											0													114.0	100.0	104.0					10																	29818674		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2206A>C	10.37:g.29818674T>G	ENSP00000348128:p.Thr736Pro		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.T736P	ENST00000355867.4	37	c.2206	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	T	28.1	4.887776	0.91814	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.62639	0.01;0.01;0.01	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.78578	0.4305	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79685	-0.1700	9	.	.	.	-22.639	15.5915	0.76534	0.0:0.0:0.0:1.0	.	342;736	O95425-2;O95425	.;SVIL_HUMAN	P	342;736;736	ENSP00000364549:T342P;ENSP00000364547:T736P;ENSP00000348128:T736P	.	T	-	1	0	SVIL	29858680	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.560000	0.82277	2.154000	0.67381	0.533000	0.62120	ACC	SVIL	-	NULL	ENSG00000197321		0.478	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	192	0.52	1	T			29818674	29818674	-1	no_errors	ENST00000355867	ensembl	human	known	69_37n	missense	144	16.28	28	SNP	1.000	G
SYBU	55638	genome.wustl.edu	37	8	110587743	110587743	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:110587743T>G	ENST00000422135.1	-	8	1899	c.1384A>C	c.(1384-1386)Acc>Ccc	p.T462P	SYBU_ENST00000433638.1_Missense_Mutation_p.T462P|SYBU_ENST00000528331.1_Missense_Mutation_p.T343P|SYBU_ENST00000440310.1_Missense_Mutation_p.T462P|SYBU_ENST00000446070.2_Missense_Mutation_p.T461P|SYBU_ENST00000399066.3_Missense_Mutation_p.T459P|SYBU_ENST00000419099.1_Missense_Mutation_p.T461P|SYBU_ENST00000533895.1_Missense_Mutation_p.T461P|SYBU_ENST00000529690.1_Missense_Mutation_p.T332P|SYBU_ENST00000529175.1_Missense_Mutation_p.T256P|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000533171.1_Missense_Mutation_p.T462P|SYBU_ENST00000424158.2_Missense_Mutation_p.T467P|SYBU_ENST00000408908.2_Missense_Mutation_p.T462P|SYBU_ENST00000532779.1_Missense_Mutation_p.T394P|SYBU_ENST00000408889.3_Missense_Mutation_p.T343P|SYBU_ENST00000528647.1_Missense_Mutation_p.T461P|SYBU_ENST00000276646.9_Missense_Mutation_p.T462P|SYBU_ENST00000533065.1_Missense_Mutation_p.T343P	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	462					regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GCCCCAGGGGTGGAATGCACA	0.572																																						dbGAP											0													121.0	124.0	123.0					8																	110587743		2102	4214	6316	-	-	-	SO:0001583	missense	0			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1384A>C	8.37:g.110587743T>G	ENSP00000407118:p.Thr462Pro		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	NULL	p.T462P	ENST00000422135.1	37	c.1384	CCDS47912.1	8	.	.	.	.	.	.	.	.	.	.	T	0.765	-0.767707	0.02974	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.98	2.31	0.28768	.	0.946051	0.09094	N	0.849405	T	0.25644	0.0624	L	0.27053	0.805	0.09310	N	1	P;P;B;B;P	0.34757	0.467;0.467;0.008;0.256;0.467	B;B;B;B;B	0.35413	0.202;0.133;0.012;0.133;0.133	T	0.20371	-1.0277	9	0.30854	T	0.27	-2.4483	7.9997	0.30288	0.0:0.3279:0.0:0.6721	.	332;394;461;462;459	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	P	461;467;394;459;461;343;256;462;461;462;461;462;462;462;343;343;332;462	.	ENSP00000276646:T462P	T	-	1	0	SYBU	110656919	0.001000	0.12720	0.001000	0.08648	0.037000	0.13140	0.112000	0.15479	0.163000	0.19507	0.482000	0.46254	ACC	SYBU	-	NULL	ENSG00000147642		0.572	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYBU	HGNC	protein_coding	OTTHUMT00000385501.1	223	0.44	1	T	NM_017786		110587743	110587743	-1	no_errors	ENST00000276646	ensembl	human	known	69_37n	missense	258	11.60	34	SNP	0.008	G
SYNE1	23345	genome.wustl.edu	37	6	152671846	152671846	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:152671846A>C	ENST00000367255.5	-	71	12241	c.11640T>G	c.(11638-11640)ggT>ggG	p.G3880G	SYNE1_ENST00000423061.1_Silent_p.G3865G|SYNE1_ENST00000448038.1_Silent_p.G3865G|SYNE1_ENST00000341594.5_Silent_p.G3804G|SYNE1_ENST00000265368.4_Silent_p.G3880G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3880					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAAGAGCTTCACCCTTCTCTC	0.428										HNSCC(10;0.0054)																												dbGAP											0													195.0	180.0	185.0					6																	152671846		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11640T>G	6.37:g.152671846A>C			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.G3880	ENST00000367255.5	37	c.11640	CCDS5236.2	6																																																																																			SYNE1	-	pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000131018		0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	183	0.54	1	A	NM_182961		152671846	152671846	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	silent	202	12.12	28	SNP	0.406	C
SYNE4	163183	genome.wustl.edu	37	19	36497502	36497502	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:36497502A>C	ENST00000324444.3	-	5	801	c.690T>G	c.(688-690)ggT>ggG	p.G230G	SYNE4_ENST00000340477.5_Silent_p.G117G|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000495116.2_5'Flank	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	230					establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											CCCAGACCCCACCAGGTCCTG	0.652																																						dbGAP											0													15.0	18.0	17.0					19																	36497502		1860	4102	5962	-	-	-	SO:0001819	synonymous_variant	0			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.690T>G	19.37:g.36497502A>C			A8MRS0|A8MYE3|Q7Z7L3	Splice_Site	SNP	-	e5+2	ENST00000324444.3	37	c.688+2	CCDS42553.1	19	.	.	.	.	.	.	.	.	.	.	A	9.930	1.214671	0.22289	.	.	ENSG00000181392	ENST00000490730	.	.	.	5.74	2.46	0.29980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5185	0.11947	0.6738:0.1798:0.1464:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C19orf46	41189342	0.974000	0.33945	0.927000	0.36925	0.258000	0.26162	0.590000	0.23954	0.963000	0.38082	0.533000	0.62120	.	SYNE4	-	-	ENSG00000181392		0.652	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE4	HGNC	protein_coding	OTTHUMT00000109525.3	38	0.00	0	A	NM_001039876		36497502	36497502	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000490730	ensembl	human	putative	69_37n	splice_site	25	19.35	6	SNP	0.971	C
SYNM	23336	genome.wustl.edu	37	15	99671031	99671031	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:99671031T>G	ENST00000560674.1	+	4	2077	c.1608T>G	c.(1606-1608)ggT>ggG	p.G536G	SYNM_ENST00000328642.7_Silent_p.G821G|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Silent_p.G821G			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	822	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						CAGAGGCAGGTGATTCAGAGG	0.537																																					Pancreas(125;1071 1762 21750 40003 40381)	dbGAP											0													51.0	58.0	56.0					15																	99671031		2122	4230	6352	-	-	-	SO:0001819	synonymous_variant	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.1608T>G	15.37:g.99671031T>G			A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	pfam_F	p.G821	ENST00000560674.1	37	c.2463		15																																																																																			SYNM	-	NULL	ENSG00000182253		0.537	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	118	0.84	1	T	NM_145728		99671031	99671031	+1	no_errors	ENST00000336292	ensembl	human	known	69_37n	silent	60	16.67	12	SNP	0.996	G
SYNPO2	171024	genome.wustl.edu	37	4	119948375	119948375	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:119948375T>G	ENST00000429713.2	+	3	1033	c.851T>G	c.(850-852)gTg>gGg	p.V284G	SYNPO2_ENST00000307142.4_Missense_Mutation_p.V284G|SYNPO2_ENST00000434046.2_Missense_Mutation_p.V284G|SYNPO2_ENST00000448416.2_Intron	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	284						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTGCCCCGGGTGGAAGTGATC	0.557																																						dbGAP											0													77.0	74.0	75.0					4																	119948375		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.851T>G	4.37:g.119948375T>G	ENSP00000395143:p.Val284Gly		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V284G	ENST00000429713.2	37	c.851	CCDS47129.1	4	.	.	.	.	.	.	.	.	.	.	T	16.02	3.004128	0.54254	.	.	ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046	T;T;T	0.12465	2.68;2.73;2.72	5.11	3.91	0.45181	.	0.112377	0.38959	N	0.001516	T	0.16041	0.0386	M	0.64997	1.995	0.80722	D	1	D;B;D;D	0.55800	0.973;0.433;0.973;0.973	P;B;B;B	0.45099	0.469;0.134;0.335;0.335	T	0.04065	-1.0980	10	0.22109	T	0.4	-17.7855	10.1105	0.42559	0.0:0.0808:0.0:0.9192	.	284;284;284;284	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	G	284	ENSP00000306015:V284G;ENSP00000395143:V284G;ENSP00000390965:V284G	ENSP00000306015:V284G	V	+	2	0	SYNPO2	120167823	1.000000	0.71417	0.998000	0.56505	0.823000	0.46562	2.992000	0.49417	2.041000	0.60428	0.455000	0.32223	GTG	SYNPO2	-	NULL	ENSG00000172403		0.557	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	168	0.58	1	T			119948375	119948375	+1	no_errors	ENST00000307142	ensembl	human	known	69_37n	missense	69	18.60	16	SNP	1.000	G
SYNRG	11276	genome.wustl.edu	37	17	35913623	35913623	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:35913623A>C	ENST00000339208.6	-	14	2342	c.2202T>G	c.(2200-2202)ggT>ggG	p.G734G	SYNRG_ENST00000346661.4_Silent_p.G734G|SYNRG_ENST00000394378.2_Silent_p.G656G|SYNRG_ENST00000345615.4_Silent_p.G656G|SYNRG_ENST00000591288.1_Silent_p.G573G|SYNRG_ENST00000585472.1_Silent_p.G655G|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Silent_p.G656G	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	734	Interaction with A1P1G1 and A1P1G2.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGTTTTGTCCACCCTTCACTG	0.478																																						dbGAP											0													71.0	71.0	71.0					17																	35913623		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.2202T>G	17.37:g.35913623A>C			A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.G734	ENST00000339208.6	37	c.2202	CCDS11321.1	17																																																																																			SYNRG	-	NULL	ENSG00000006114		0.478	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	119	0.83	1	A	NM_007247		35913623	35913623	-1	no_errors	ENST00000339208	ensembl	human	known	69_37n	silent	77	16.84	16	SNP	0.045	C
SYT17	51760	genome.wustl.edu	37	16	19195354	19195354	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:19195354T>G	ENST00000355377.2	+	5	1234	c.836T>G	c.(835-837)gTg>gGg	p.V279G	SYT17_ENST00000568115.1_Missense_Mutation_p.V218G|SYT17_ENST00000562711.2_Missense_Mutation_p.V275G|SYT17_ENST00000562034.1_Missense_Mutation_p.V218G	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	279	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTGACCGTGGTGGATTTTGAT	0.577																																						dbGAP											0													140.0	135.0	137.0					16																	19195354		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.836T>G	16.37:g.19195354T>G	ENSP00000347538:p.Val279Gly		O43330|Q9NZ18	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.V279G	ENST00000355377.2	37	c.836	CCDS10575.1	16	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568926	0.86439	.	.	ENSG00000103528	ENST00000355377	T	0.69685	-0.42	5.64	5.64	0.86602	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.098661	0.39985	N	0.001204	T	0.79347	0.4430	M	0.64170	1.965	0.80722	D	1	P;P	0.47762	0.9;0.9	D;D	0.63703	0.917;0.917	T	0.81234	-0.1025	10	0.87932	D	0	.	15.8714	0.79122	0.0:0.0:0.0:1.0	.	279;218	Q9BSW7;B4DJB2	SYT17_HUMAN;.	G	279	ENSP00000347538:V279G	ENSP00000347538:V279G	V	+	2	0	SYT17	19102855	1.000000	0.71417	0.991000	0.47740	0.908000	0.53690	3.233000	0.51311	2.144000	0.66660	0.533000	0.62120	GTG	SYT17	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000103528		0.577	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT17	HGNC	protein_coding	OTTHUMT00000254286.2	112	0.00	0	T	NM_016524		19195354	19195354	+1	no_errors	ENST00000355377	ensembl	human	known	69_37n	missense	111	18.38	25	SNP	1.000	G
SYT5	6861	genome.wustl.edu	37	19	55687437	55687437	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:55687437A>C	ENST00000354308.3	-	4	677	c.308T>G	c.(307-309)gTg>gGg	p.V103G	SYT5_ENST00000590851.1_Missense_Mutation_p.V100G|SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000537500.1_Missense_Mutation_p.V103G|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	103					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTTGTCTGCCACCTGCTGCCC	0.592																																						dbGAP											0													131.0	127.0	129.0					19																	55687437		2203	4300	6503	-	-	-	SO:0001583	missense	0			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.308T>G	19.37:g.55687437A>C	ENSP00000346265:p.Val103Gly		B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.V103G	ENST00000354308.3	37	c.308	CCDS12919.1	19	.	.	.	.	.	.	.	.	.	.	a	9.877	1.200491	0.22121	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.08193	3.12;3.12	4.43	-3.44	0.04796	.	0.399653	0.23748	N	0.044951	T	0.04861	0.0131	L	0.43923	1.385	0.30728	N	0.747536	B;B;B	0.15930	0.003;0.015;0.003	B;B;B	0.09377	0.002;0.002;0.004	T	0.30707	-0.9969	10	0.22109	T	0.4	.	2.9824	0.05957	0.2251:0.1267:0.4501:0.1981	.	100;103;103	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	G	103;103;100	ENSP00000442896:V103G;ENSP00000346265:V103G	ENSP00000346265:V103G	V	-	2	0	SYT5	60379249	0.000000	0.05858	0.258000	0.24420	0.866000	0.49608	-0.484000	0.06528	-0.539000	0.06273	0.454000	0.30748	GTG	SYT5	-	NULL	ENSG00000129990		0.592	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT5	HGNC	protein_coding	OTTHUMT00000452501.1	140	0.00	0	A	NM_003180		55687437	55687437	-1	no_errors	ENST00000354308	ensembl	human	known	69_37n	missense	141	16.96	29	SNP	0.018	C
SYTL1	84958	genome.wustl.edu	37	1	27677420	27677420	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:27677420A>C	ENST00000543823.1	+	10	1603	c.1141A>C	c.(1141-1143)Acc>Ccc	p.T381P	SYTL1_ENST00000318074.5_Missense_Mutation_p.T369P|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	381					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGAGCCCACCTGGCTCCC	0.687																																						dbGAP											0													45.0	40.0	42.0					1																	27677420		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.1141A>C	1.37:g.27677420A>C	ENSP00000440704:p.Thr381Pro		Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.T381P	ENST00000543823.1	37	c.1141	CCDS53286.1	1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.540486	0.65085	.	.	ENSG00000142765	ENST00000318074;ENST00000543823;ENST00000485269	T;T	0.08102	3.13;3.13	4.76	3.61	0.41365	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.436137	0.25461	N	0.030511	T	0.10165	0.0249	L	0.46157	1.445	0.34921	D	0.748395	P;P	0.39831	0.668;0.69	B;P	0.45343	0.222;0.477	T	0.09228	-1.0684	10	0.56958	D	0.05	-10.9275	4.7005	0.12825	0.7267:0.0:0.1012:0.1721	.	381;369	Q8IYJ3;Q8IYJ3-2	SYTL1_HUMAN;.	P	369;381;134	ENSP00000316464:T369P;ENSP00000440704:T381P	ENSP00000316464:T369P	T	+	1	0	SYTL1	27550007	0.000000	0.05858	1.000000	0.80357	0.907000	0.53573	0.126000	0.15769	2.012000	0.59069	0.374000	0.22700	ACC	SYTL1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000142765		0.687	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL1	HGNC	protein_coding		29	0.00	0	A	NM_032872		27677420	27677420	+1	no_errors	ENST00000543823	ensembl	human	known	69_37n	missense	9	40.00	6	SNP	0.982	C
SYTL5	94122	genome.wustl.edu	37	X	37932904	37932904	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:37932904A>C	ENST00000357972.5	+	5	1053	c.507A>C	c.(505-507)tcA>tcC	p.S169S	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Silent_p.S169S|SYTL5_ENST00000456733.2_Silent_p.S169S			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	169					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CAGACACTTCACCTGTTGCTG	0.448																																						dbGAP											0													61.0	51.0	54.0					X																	37932904		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.507A>C	X.37:g.37932904A>C			A2RRF2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain	p.S169	ENST00000357972.5	37	c.507	CCDS14244.1	X																																																																																			SYTL5	-	NULL	ENSG00000147041		0.448	SYTL5-201	KNOWN	basic|CCDS	protein_coding	SYTL5	HGNC	protein_coding	OTTHUMT00000080883.1	199	0.00	0	A	NM_138780		37932904	37932904	+1	no_errors	ENST00000456733	ensembl	human	known	69_37n	silent	132	16.88	27	SNP	0.017	C
SYTL4	94121	genome.wustl.edu	37	X	99934402	99934402	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:99934402A>C	ENST00000372989.1	-	17	1897	c.1566T>G	c.(1564-1566)ggT>ggG	p.G522G	SYTL4_ENST00000491602.1_5'Flank|SYTL4_ENST00000454200.2_Silent_p.G524G|SYTL4_ENST00000263033.5_Silent_p.G522G|SYTL4_ENST00000455616.1_Silent_p.G522G|SYTL4_ENST00000276141.6_Silent_p.G522G	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	522	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCCCTTCCCCACCTTTACCTG	0.507																																						dbGAP											0													109.0	78.0	88.0					X																	99934402		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1566T>G	X.37:g.99934402A>C			Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,prints_Synaptotagmin	p.G524	ENST00000372989.1	37	c.1572	CCDS14472.1	X																																																																																			SYTL4	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000102362		0.507	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1	155	0.00	0	A	NM_080737		99934402	99934402	-1	no_errors	ENST00000454200	ensembl	human	known	69_37n	silent	122	28.07	48	SNP	1.000	C
SYVN1	84447	genome.wustl.edu	37	11	64897220	64897220	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:64897220T>G	ENST00000377190.3	-	14	1670	c.1576A>C	c.(1576-1578)Acc>Ccc	p.T526P	SYVN1_ENST00000294256.8_Missense_Mutation_p.T525P|SYVN1_ENST00000526060.1_Missense_Mutation_p.T525P|SYVN1_ENST00000307289.6_Missense_Mutation_p.T474P|SYVN1_ENST00000526121.1_5'Flank	NM_172230.2	NP_757385.1	Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	526					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)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|in utero embryonic development (GO:0001701)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						GCCAGCACGGTGAGGTACTGG	0.632																																						dbGAP											0													64.0	69.0	67.0					11																	64897220		2201	4297	6498	-	-	-	SO:0001583	missense	0			AB085847	CCDS8097.1, CCDS31605.1	11q13	2013-01-09			ENSG00000162298	ENSG00000162298		"""RING-type (C3HC4) zinc fingers"""	20738	protein-coding gene	gene with protein product	"""HMG-coA reductase degradation 1 homolog (S. cerevisiae)"""	608046				12975321	Standard	NM_032431		Approved	HRD1, DER3	uc001odb.3	Q86TM6		ENST00000377190.3:c.1576A>C	11.37:g.64897220T>G	ENSP00000366395:p.Thr526Pro		Q8N3K3|Q8N6E8|Q96JL5|Q96PK3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T526P	ENST00000377190.3	37	c.1576	CCDS31605.1	11	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997471	0.54147	.	.	ENSG00000162298	ENST00000377190;ENST00000294256;ENST00000434219;ENST00000307289;ENST00000526060	T;T;T;T	0.11495	2.77;2.78;2.94;2.78	4.92	4.92	0.64577	.	0.054903	0.64402	D	0.000001	T	0.17789	0.0427	L	0.50333	1.59	0.58432	D	0.999994	D;D;D	0.58268	0.982;0.982;0.969	P;P;P	0.51866	0.682;0.682;0.483	T	0.00775	-1.1571	10	0.40728	T	0.16	-14.132	12.5476	0.56208	0.0:0.0:0.0:1.0	.	474;525;526	Q86TM6-2;Q86TM6-3;Q86TM6	.;.;SYVN1_HUMAN	P	526;525;526;474;525	ENSP00000366395:T526P;ENSP00000294256:T525P;ENSP00000302035:T474P;ENSP00000436984:T525P	ENSP00000294256:T525P	T	-	1	0	SYVN1	64653796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.705000	0.54823	2.082000	0.62665	0.459000	0.35465	ACC	SYVN1	-	NULL	ENSG00000162298		0.632	SYVN1-001	KNOWN	basic|CCDS	protein_coding	SYVN1	HGNC	protein_coding	OTTHUMT00000385274.1	118	0.00	0	T	NM_032431		64897220	64897220	-1	no_errors	ENST00000377190	ensembl	human	known	69_37n	missense	81	19.00	19	SNP	1.000	G
SZT2	23334	genome.wustl.edu	37	1	43906177	43906177	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:43906177A>C	ENST00000562955.1	+	51	7093	c.7093A>C	c.(7093-7095)Acc>Ccc	p.T2365P	SZT2_ENST00000372442.1_Missense_Mutation_p.T1523P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2422					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						CCGAGCTAGCACCTTTCCCCC	0.557																																						dbGAP											0													112.0	109.0	110.0					1																	43906177		2203	4300	6503	-	-	-	SO:0001583	missense	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.7093A>C	1.37:g.43906177A>C	ENSP00000457168:p.Thr2365Pro		A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.T2365P	ENST00000562955.1	37	c.7093	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	A	14.67	2.604250	0.46423	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.13	3.99	0.46301	.	0.598969	0.17407	N	0.175324	T	0.35970	0.0950	L	0.29908	0.895	0.22933	N	0.998549	B	0.02656	0.0	B	0.04013	0.001	T	0.20438	-1.0275	9	0.37606	T	0.19	.	12.1887	0.54254	0.857:0.143:0.0:0.0	.	2365	Q5T011-5	.	P	1523	.	ENSP00000361519:T1523P	T	+	1	0	SZT2	43678764	0.992000	0.36948	0.998000	0.56505	0.953000	0.61014	2.363000	0.44178	0.960000	0.38005	-0.313000	0.08912	ACC	SZT2	-	NULL	ENSG00000198198		0.557	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding	OTTHUMT00000019517.3	81	0.00	0	A	NM_015284		43906177	43906177	+1	no_errors	ENST00000562955	ensembl	human	known	69_37n	missense	73	23.16	22	SNP	1.000	C
TAAR8	83551	genome.wustl.edu	37	6	132874341	132874341	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:132874341T>G	ENST00000275200.1	+	1	510	c.510T>G	c.(508-510)ggT>ggG	p.G170G		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	170					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TCTACACAGGTGTCAATGATG	0.478																																						dbGAP											0													302.0	293.0	296.0					6																	132874341		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.510T>G	6.37:g.132874341T>G			Q5VUQ0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,prints_Trace_amine_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.G170	ENST00000275200.1	37	c.510	CCDS5154.1	6																																																																																			TAAR8	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000146385		0.478	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAAR8	HGNC	protein_coding	OTTHUMT00000042262.1	289	0.00	0	T	NM_053278		132874341	132874341	+1	no_errors	ENST00000275200	ensembl	human	known	69_37n	silent	277	10.26	32	SNP	0.002	G
TACC1	6867	genome.wustl.edu	37	8	38646276	38646276	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:38646276A>C	ENST00000317827.4	+	2	595	c.216A>C	c.(214-216)tcA>tcC	p.S72S	TACC1_ENST00000520340.1_Silent_p.S36S|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000379931.3_Silent_p.S72S|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_5'UTR|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000518415.1_Silent_p.S27S|TACC1_ENST00000443286.2_Silent_p.S88S	NM_006283.2	NP_006274.2	O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	72					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)			CGATCCGATCACCTTTCAAGG	0.458																																						dbGAP											0													66.0	64.0	65.0					8																	38646276		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.216A>C	8.37:g.38646276A>C			B2RBD9|D3DSX6|Q6Y687|Q86YG7|Q8IUJ2|Q8IUJ3|Q8IUJ4|Q8IZG2|Q8NEY7|Q9UPP9	Silent	SNP	pfam_TACC	p.S72	ENST00000317827.4	37	c.216	CCDS6109.1	8																																																																																			TACC1	-	NULL	ENSG00000147526		0.458	TACC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TACC1	HGNC	protein_coding	OTTHUMT00000376768.1	129	0.00	0	A	NM_006283		38646276	38646276	+1	no_errors	ENST00000379931	ensembl	human	known	69_37n	silent	184	10.95	23	SNP	0.027	C
TAF15	8148	genome.wustl.edu	37	17	34171776	34171776	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:34171776T>G	ENST00000588240.1	+	15	1588	c.1473T>G	c.(1471-1473)ggT>ggG	p.G491G	TAF15_ENST00000311979.3_Silent_p.G488G|TAF15_ENST00000592237.1_Intron	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gagaccgaggtggaggctatg	0.607			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	dbGAP		Dom	yes		17	17q11.1-q11.2	8148	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""		"""L, M"""	0													71.0	60.0	64.0					17																	34171776		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1473T>G	17.37:g.34171776T>G			D3DPM5|Q15775|Q5T077	Silent	SNP	pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.G491	ENST00000588240.1	37	c.1473	CCDS32623.1	17																																																																																			TAF15	-	NULL	ENSG00000172660		0.607	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF15	HGNC	protein_coding	OTTHUMT00000449134.1	441	0.00	0	T	NM_139215		34171776	34171776	+1	no_errors	ENST00000588240	ensembl	human	known	69_37n	silent	384	11.26	49	SNP	0.004	G
TAF6	6878	genome.wustl.edu	37	7	99711771	99711771	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:99711771A>C	ENST00000344095.4	-	2	587	c.62T>G	c.(61-63)gTg>gGg	p.V21G	TAF6_ENST00000453269.2_Missense_Mutation_p.V21G|TAF6_ENST00000437822.2_Missense_Mutation_p.V58G|TAF6_ENST00000472509.1_Missense_Mutation_p.V78G|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Missense_Mutation_p.V21G|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000418432.2_5'UTR	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	21					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCAGCCACCACCTTCATGGA	0.567																																						dbGAP											0													152.0	138.0	143.0					7																	99711771		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.62T>G	7.37:g.99711771A>C	ENSP00000344537:p.Val21Gly		A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd	p.V21G	ENST00000344095.4	37	c.62	CCDS5686.1	7	.	.	.	.	.	.	.	.	.	.	A	19.58	3.853917	0.71719	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000437822;ENST00000493322;ENST00000440225;ENST00000452438;ENST00000523306;ENST00000449571;ENST00000520135;ENST00000451699;ENST00000417349	T;T;T;T;T;T;T;T;T;T;T;T;T	0.54866	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.55	5.41	4.27	0.50696	Histone-fold (2);TATA box binding protein associated factor (TAF) (2);	0.172570	0.50627	D	0.000106	T	0.61324	0.2338	M	0.75447	2.3	0.80722	D	1	P;P;P;P;P	0.51057	0.941;0.818;0.849;0.633;0.858	P;B;P;B;P	0.52823	0.675;0.407;0.543;0.438;0.71	T	0.65952	-0.6043	10	0.72032	D	0.01	-22.0412	8.7671	0.34708	0.9108:0.0:0.0892:0.0	.	58;21;21;21;21	B4DT11;P49848-2;A4D299;P49848;C9JTY6	.;.;.;TAF6_HUMAN;.	G	21;78;21;21;58;21;21;21;21;21;21;21;21	ENSP00000389575:V21G;ENSP00000419760:V78G;ENSP00000416396:V21G;ENSP00000344537:V21G;ENSP00000399982:V58G;ENSP00000419555:V21G;ENSP00000410012:V21G;ENSP00000412346:V21G;ENSP00000428639:V21G;ENSP00000390073:V21G;ENSP00000428071:V21G;ENSP00000406315:V21G;ENSP00000390220:V21G	ENSP00000344537:V21G	V	-	2	0	TAF6	99549707	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.508000	0.67006	2.056000	0.61249	0.402000	0.26972	GTG	TAF6	-	pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_TAF_TATA-bd	ENSG00000106290		0.567	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6	HGNC	protein_coding	OTTHUMT00000337024.2	141	0.70	1	A	NM_005641		99711771	99711771	-1	no_errors	ENST00000344095	ensembl	human	known	69_37n	missense	106	14.52	18	SNP	1.000	C
TANC1	85461	genome.wustl.edu	37	2	160076339	160076339	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:160076339A>C	ENST00000263635.6	+	22	3876	c.3639A>C	c.(3637-3639)acA>acC	p.T1213T	TANC1_ENST00000454300.1_Silent_p.T1107T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1213					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATGGCCGCACACCCTTGGACC	0.542																																						dbGAP											0													94.0	99.0	97.0					2																	160076339		2074	4219	6293	-	-	-	SO:0001819	synonymous_variant	0			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3639A>C	2.37:g.160076339A>C			C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.T1213	ENST00000263635.6	37	c.3639	CCDS42766.1	2																																																																																			TANC1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000115183		0.542	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	138	0.71	1	A			160076339	160076339	+1	no_errors	ENST00000263635	ensembl	human	known	69_37n	silent	80	18.18	18	SNP	0.000	C
TANC2	26115	genome.wustl.edu	37	17	61497801	61497801	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:61497801A>C	ENST00000424789.2	+	25	4462	c.4458A>C	c.(4456-4458)tcA>tcC	p.S1486S	TANC2_ENST00000389520.4_Silent_p.S1496S|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1486					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGTCCACCTCACCTGCCCTTT	0.542																																						dbGAP											0													97.0	97.0	97.0					17																	61497801		2059	4187	6246	-	-	-	SO:0001819	synonymous_variant	0			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4458A>C	17.37:g.61497801A>C			Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S1486	ENST00000424789.2	37	c.4458	CCDS45754.1	17																																																																																			TANC2	-	NULL	ENSG00000170921		0.542	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	147	0.67	1	A			61497801	61497801	+1	no_errors	ENST00000424789	ensembl	human	known	69_37n	silent	126	16.56	25	SNP	0.826	C
TAOK2	9344	genome.wustl.edu	37	16	29999018	29999018	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:29999018A>C	ENST00000308893.4	+	16	4468	c.3425A>C	c.(3424-3426)cAc>cCc	p.H1142P	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_Missense_Mutation_p.H969P|TAOK2_ENST00000543033.1_Missense_Mutation_p.H1029P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1142					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ACCACCCAACACCCATTAGCT	0.652																																						dbGAP											0													62.0	64.0	64.0					16																	29999018		2197	4300	6497	-	-	-	SO:0001583	missense	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3425A>C	16.37:g.29999018A>C	ENSP00000310094:p.His1142Pro		A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H1142P	ENST00000308893.4	37	c.3425	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	A	10.17	1.276820	0.23307	.	.	ENSG00000149930	ENST00000308893;ENST00000543033	T;T	0.74526	-0.81;-0.85	5.28	4.19	0.49359	.	0.263863	0.27004	N	0.021406	T	0.50786	0.1636	N	0.08118	0	0.27352	N	0.956227	B;P;B	0.42620	0.072;0.785;0.072	B;B;B	0.38755	0.025;0.281;0.025	T	0.42207	-0.9465	9	.	.	.	.	8.7444	0.34578	0.9118:0.0:0.0882:0.0	.	1333;969;1142	Q86V37;Q9UL54-3;Q9UL54	.;.;TAOK2_HUMAN	P	1142;1029	ENSP00000310094:H1142P;ENSP00000440336:H1029P	.	H	+	2	0	TAOK2	29906519	0.409000	0.25368	0.870000	0.34147	0.235000	0.25334	1.794000	0.38774	0.873000	0.35799	0.456000	0.33151	CAC	TAOK2	-	NULL	ENSG00000149930		0.652	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	34	0.00	0	A	NM_016151		29999018	29999018	+1	no_errors	ENST00000308893	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.789	C
TARBP1	6894	genome.wustl.edu	37	1	234565989	234565989	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:234565989A>C	ENST00000040877.1	-	15	2452	c.2453T>G	c.(2452-2454)gTg>gGg	p.V818G		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	818					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGCCTCACACACCATGGCCAA	0.498																																						dbGAP											0													78.0	77.0	77.0					1																	234565989		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2453T>G	1.37:g.234565989A>C	ENSP00000040877:p.Val818Gly		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.V818G	ENST00000040877.1	37	c.2453	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823502	0.71143	.	.	ENSG00000059588	ENST00000040877	T	0.08807	3.05	5.26	4.13	0.48395	.	0.268870	0.35179	N	0.003400	T	0.18467	0.0443	L	0.59436	1.845	0.20489	N	0.999894	D	0.64830	0.994	P	0.58077	0.832	T	0.01781	-1.1275	10	0.87932	D	0	-5.181	10.4784	0.44678	0.922:0.0:0.078:0.0	.	818	Q13395	TARB1_HUMAN	G	818	ENSP00000040877:V818G	ENSP00000040877:V818G	V	-	2	0	TARBP1	232632612	0.462000	0.25791	0.056000	0.19401	0.331000	0.28603	5.666000	0.68059	2.109000	0.64355	0.533000	0.62120	GTG	TARBP1	-	NULL	ENSG00000059588		0.498	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	110	0.00	0	A	NM_005646		234565989	234565989	-1	no_errors	ENST00000040877	ensembl	human	known	69_37n	missense	99	18.85	23	SNP	0.031	C
TBATA	219793	genome.wustl.edu	37	10	72531060	72531060	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:72531060T>G	ENST00000299290.1	-	0	1517				TBATA_ENST00000394982.2_5'UTR	NM_152710.2	NP_689923	Q96M53	TBATA_HUMAN	thymus, brain and testes associated						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|nucleus (GO:0005634)											GCTGTGAAGGTGGTGGAGACA	0.542																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AK057382	CCDS7308.1	10q22.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166220	ENSG00000166220			23511	protein-coding gene	gene with protein product		612640	"""chromosome 10 open reading frame 27"""	C10orf27		20937703	Standard	NM_152710		Approved	FLJ32820, spatial	uc001jrj.1	Q96M53	OTTHUMG00000018413	ENST00000299290.1:c.*72A>C	10.37:g.72531060T>G			A4QPA8|B2RPQ2|Q5T4G2	Missense_Mutation	SNP	NULL	p.T97P	ENST00000299290.1	37	c.289	CCDS7308.1	10	.	.	.	.	.	.	.	.	.	.	t	5.015	0.188536	0.09547	.	.	ENSG00000166220	ENST00000394982	.	.	.	4.02	-8.03	0.01114	.	.	.	.	.	T	0.35799	0.0944	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.51841	-0.8654	5	0.87932	D	0	.	7.5257	0.27653	0.3414:0.4858:0.0:0.1727	.	.	.	.	P	97	.	ENSP00000378433:T97P	T	-	1	0	C10orf27	72201066	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.824000	0.01708	-2.564000	0.00472	-0.261000	0.10672	ACC	TBATA	-	NULL	ENSG00000166220		0.542	TBATA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBATA	HGNC	protein_coding	OTTHUMT00000048519.1	172	0.00	0	T	NM_152710		72531060	72531060	-1	no_start_codon	ENST00000394982	ensembl	human	known	69_37n	missense	103	14.52	18	SNP	0.000	G
TBC1D23	55773	genome.wustl.edu	37	3	100021000	100021000	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:100021000T>G	ENST00000394144.4	+	11	1189	c.1182T>G	c.(1180-1182)ggT>ggG	p.G394G	TBC1D23_ENST00000475134.1_Silent_p.G257G|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.G394G	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	394	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				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						CCATAGCTGGTGGGGAGCACC	0.448																																						dbGAP											0													94.0	88.0	90.0					3																	100021000		2203	4300	6503	-	-	-	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.1182T>G	3.37:g.100021000T>G			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.G394	ENST00000394144.4	37	c.1182	CCDS56265.1	3																																																																																			TBC1D23	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000036054		0.448	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1	120	0.00	0	T	NM_018309		100021000	100021000	+1	no_errors	ENST00000394144	ensembl	human	known	69_37n	silent	159	10.17	18	SNP	0.361	G
TBC1D9B	23061	genome.wustl.edu	37	5	179305400	179305400	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:179305400T>G	ENST00000356834.3	-	10	1728	c.1691A>C	c.(1690-1692)cAc>cCc	p.H564P	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.H564P	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	564	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGGCAGGGTGCTCGGGCAT	0.642																																						dbGAP											0													70.0	51.0	57.0					5																	179305400		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1691A>C	5.37:g.179305400T>G	ENSP00000349291:p.His564Pro		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.H564P	ENST00000356834.3	37	c.1691	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	T	25.4	4.637280	0.87760	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.04917	3.53;3.53	5.3	5.3	0.74995	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	H	0.98936	4.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.67401	-0.5680	10	0.87932	D	0	-31.2549	15.2286	0.73369	0.0:0.0:0.0:1.0	.	564;564;564	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	P	564	ENSP00000349291:H564P;ENSP00000347375:H564P	ENSP00000347375:H564P	H	-	2	0	TBC1D9B	179238006	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.963000	0.87922	1.992000	0.58205	0.402000	0.26972	CAC	TBC1D9B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000197226		0.642	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	97	0.00	0	T	NM_015043		179305400	179305400	-1	no_errors	ENST00000356834	ensembl	human	known	69_37n	missense	54	17.91	12	SNP	1.000	G
TBC1D9B	23061	genome.wustl.edu	37	5	179305499	179305499	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:179305499T>G	ENST00000356834.3	-	10	1629	c.1592A>C	c.(1591-1593)cAc>cCc	p.H531P	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.H531P	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	531	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTACCCGGGGTGAGTCACCAT	0.612																																						dbGAP											0													47.0	38.0	41.0					5																	179305499		2202	4300	6502	-	-	-	SO:0001583	missense	0			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1592A>C	5.37:g.179305499T>G	ENSP00000349291:p.His531Pro		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.H531P	ENST00000356834.3	37	c.1592	CCDS43408.1	5	.	.	.	.	.	.	.	.	.	.	T	19.78	3.890972	0.72524	.	.	ENSG00000197226	ENST00000356834;ENST00000355235	T;T	0.11063	2.81;2.81	5.39	5.39	0.77823	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.33177	0.0854	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.994;0.998	T	0.05241	-1.0897	10	0.72032	D	0.01	-29.8293	15.3997	0.74830	0.0:0.0:0.0:1.0	.	531;531;531	A1L3A9;Q66K14-2;Q66K14	.;.;TBC9B_HUMAN	P	531	ENSP00000349291:H531P;ENSP00000347375:H531P	ENSP00000347375:H531P	H	-	2	0	TBC1D9B	179238105	1.000000	0.71417	1.000000	0.80357	0.549000	0.35272	6.235000	0.72332	2.030000	0.59900	0.459000	0.35465	CAC	TBC1D9B	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000197226		0.612	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	101	0.00	0	T	NM_015043		179305499	179305499	-1	no_errors	ENST00000356834	ensembl	human	known	69_37n	missense	48	14.29	8	SNP	1.000	G
TBCD	6904	genome.wustl.edu	37	17	80858574	80858574	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:80858574A>C	ENST00000355528.4	+	18	1827	c.1697A>C	c.(1696-1698)cAc>cCc	p.H566P	TBCD_ENST00000397466.2_Missense_Mutation_p.H180P|TBCD_ENST00000539345.2_Missense_Mutation_p.H566P	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	566					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			ATGATAGACCACCTGGTTACC	0.468																																						dbGAP											0													162.0	152.0	155.0					17																	80858574		1947	4145	6092	-	-	-	SO:0001583	missense	0			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1697A>C	17.37:g.80858574A>C	ENSP00000347719:p.His566Pro		O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Missense_Mutation	SNP	pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold	p.H566P	ENST00000355528.4	37	c.1697	CCDS45818.1	17	.	.	.	.	.	.	.	.	.	.	A	18.06	3.539996	0.65085	.	.	ENSG00000141556	ENST00000355528;ENST00000334614;ENST00000397466;ENST00000536182	T;T	0.49432	0.78;0.78	5.33	5.33	0.75918	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77082	0.4078	H	0.95260	3.645	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.983;0.996;0.993	D	0.84046	0.0367	9	.	.	.	.	13.2307	0.59941	1.0:0.0:0.0:0.0	.	566;566;566	Q9BTW9;Q9BTW9-4;F5H8C7	TBCD_HUMAN;.;.	P	566;317;180;566	ENSP00000347719:H566P;ENSP00000380608:H180P	.	H	+	2	0	TBCD	78451863	1.000000	0.71417	0.995000	0.50966	0.686000	0.39977	6.885000	0.75606	2.028000	0.59812	0.533000	0.62120	CAC	TBCD	-	superfamily_ARM-type_fold	ENSG00000141556		0.468	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCD	HGNC	protein_coding	OTTHUMT00000439415.1	396	0.50	2	A	NM_005993		80858574	80858574	+1	no_errors	ENST00000355528	ensembl	human	known	69_37n	missense	364	10.34	42	SNP	0.998	C
TBRG4	9238	genome.wustl.edu	37	7	45141972	45141972	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:45141972T>G	ENST00000258770.3	-	7	1416	c.1295A>C	c.(1294-1296)cAc>cCc	p.H432P	TBRG4_ENST00000395655.4_Missense_Mutation_p.H322P|SNORA5C_ENST00000364902.1_RNA|TBRG4_ENST00000494076.1_Missense_Mutation_p.H432P|SNORA5A_ENST00000384111.1_RNA|TBRG4_ENST00000361278.3_Missense_Mutation_p.H322P	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	432					cell cycle arrest (GO:0007050)|cellular respiration (GO:0045333)|positive regulation of cell proliferation (GO:0008284)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						AAATTCAGGGTGGAGGACGGC	0.597																																						dbGAP											0													83.0	79.0	80.0					7																	45141972		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023165	CCDS5501.1, CCDS5502.1	7p13	2006-07-07			ENSG00000136270	ENSG00000136270			17443	protein-coding gene	gene with protein product	"""FAST kinase domains 4"", ""cell cycle progression 2 protein"""	611325				9383053	Standard	NM_004749		Approved	Cpr2, KIAA0948, H_TD2522F11.8, FASTKD4	uc011kcd.3	Q969Z0	OTTHUMG00000129247	ENST00000258770.3:c.1295A>C	7.37:g.45141972T>G	ENSP00000258770:p.His432Pro		A4D2L2|A4D2L3|D3DVL5|D3DVL6|O14710|Q53GI8|Q8NDM4|Q9BUC6|Q9Y2F6	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.H432P	ENST00000258770.3	37	c.1295	CCDS5501.1	7	.	.	.	.	.	.	.	.	.	.	T	8.037	0.763001	0.15914	.	.	ENSG00000136270	ENST00000258770;ENST00000361278;ENST00000395655;ENST00000494076	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.89	-0.135	0.13477	FAST kinase leucine-rich (1);	1.517880	0.03026	N	0.151341	T	0.31796	0.0808	N	0.22421	0.69	0.09310	N	1	P;P;B	0.41008	0.533;0.735;0.131	B;B;B	0.38500	0.275;0.245;0.036	T	0.32929	-0.9888	10	0.49607	T	0.09	.	8.818	0.35007	0.0:0.4791:0.0:0.5209	.	443;322;432	B4DU42;Q969Z0-2;Q969Z0	.;.;TBRG4_HUMAN	P	432;322;322;432	ENSP00000258770:H432P;ENSP00000354992:H322P;ENSP00000379016:H322P;ENSP00000420597:H432P	ENSP00000258770:H432P	H	-	2	0	TBRG4	45108497	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.342000	0.07801	-0.219000	0.10003	-0.408000	0.06270	CAC	TBRG4	-	pfam_FAST_Leu-rich	ENSG00000136270		0.597	TBRG4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TBRG4	HGNC	protein_coding	OTTHUMT00000251351.1	118	0.00	0	T	NM_030900		45141972	45141972	-1	no_errors	ENST00000258770	ensembl	human	known	69_37n	missense	80	17.53	17	SNP	0.000	G
TCEB3C	162699	genome.wustl.edu	37	18	44555106	44555106	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:44555106A>C	ENST00000330682.2	-	1	1343	c.1108T>G	c.(1108-1110)Tgg>Ggg	p.W370G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	370	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCGGGCGTCCACCCTTCCAGA	0.592																																						dbGAP											0													564.0	524.0	537.0					18																	44555106		1976	3987	5963	-	-	-	SO:0001583	missense	0			AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1108T>G	18.37:g.44555106A>C	ENSP00000328232:p.Trp370Gly			Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.W370G	ENST00000330682.2	37	c.1108	CCDS11931.1	18	.	.	.	.	.	.	.	.	.	.	a	0.800	-0.755600	0.03019	.	.	ENSG00000183791	ENST00000330682	T	0.29397	1.57	1.75	-3.5	0.04710	.	0.904169	0.09309	N	0.819839	T	0.19248	0.0462	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19778	-1.0295	10	0.48119	T	0.1	0.1867	4.0237	0.09677	0.2685:0.3821:0.3495:0.0	.	370	Q8NG57	ELOA3_HUMAN	G	370	ENSP00000328232:W370G	ENSP00000328232:W370G	W	-	1	0	TCEB3C	42809104	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	0.402000	0.20965	-1.453000	0.01928	-1.374000	0.01184	TGG	TCEB3C	-	pfam_RNA_pol_II_trans_fac_SIII_A	ENSG00000183791		0.592	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3C	HGNC	protein_coding	OTTHUMT00000255902.1	1401	0.42	6	A	NM_145653		44555106	44555106	-1	no_errors	ENST00000330682	ensembl	human	known	69_37n	missense	1136	10.23	130	SNP	0.000	C
TCERG1L	256536	genome.wustl.edu	37	10	133107551	133107551	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:133107551A>C	ENST00000368642.4	-	2	439	c.354T>G	c.(352-354)ggT>ggG	p.G118G		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	118										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GAGAATGGCCACCAAACAGCC	0.532																																						dbGAP											0													55.0	55.0	55.0					10																	133107551		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.354T>G	10.37:g.133107551A>C			Q5VWI2|Q86XM8	Silent	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.G118	ENST00000368642.4	37	c.354	CCDS7662.2	10																																																																																			TCERG1L	-	NULL	ENSG00000176769		0.532	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	101	0.00	0	A	NM_174937		133107551	133107551	-1	no_errors	ENST00000368642	ensembl	human	known	69_37n	silent	39	32.76	19	SNP	0.044	C
TCF7L1	83439	genome.wustl.edu	37	2	85533444	85533444	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:85533444A>C	ENST00000282111.3	+	9	1380	c.1105A>C	c.(1105-1107)Acc>Ccc	p.T369P		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	369					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						GGCTGAGTGCACCCTGAAGGA	0.537																																						dbGAP											0													132.0	117.0	122.0					2																	85533444		2203	4300	6503	-	-	-	SO:0001583	missense	0			X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.1105A>C	2.37:g.85533444A>C	ENSP00000282111:p.Thr369Pro		Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.T369P	ENST00000282111.3	37	c.1105	CCDS1971.1	2	.	.	.	.	.	.	.	.	.	.	A	21.2	4.114258	0.77210	.	.	ENSG00000152284	ENST00000282111	D	0.91894	-2.93	5.17	5.17	0.71159	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.91469	0.7307	N	0.13327	0.33	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	D	0.91902	0.5532	10	0.45353	T	0.12	.	12.9671	0.58490	1.0:0.0:0.0:0.0	.	369	Q9HCS4	TF7L1_HUMAN	P	369	ENSP00000282111:T369P	ENSP00000282111:T369P	T	+	1	0	TCF7L1	85386955	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	9.323000	0.96364	1.952000	0.56665	0.482000	0.46254	ACC	TCF7L1	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000152284		0.537	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	HGNC	protein_coding	OTTHUMT00000252301.2	214	0.92	2	A	NM_031283		85533444	85533444	+1	no_errors	ENST00000282111	ensembl	human	known	69_37n	missense	107	14.29	18	SNP	1.000	C
TCIRG1	10312	genome.wustl.edu	37	11	67818263	67818263	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:67818263A>C	ENST00000265686.3	+	20	2578	c.2470A>C	c.(2470-2472)Acc>Ccc	p.T824P	RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000534517.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA|TCIRG1_ENST00000532635.1_Missense_Mutation_p.T608P|TCIRG1_ENST00000530802.1_3'UTR|CHKA_ENST00000533728.1_5'Flank	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	824					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GAGTCCCTTCACCTTCGCTGC	0.592																																						dbGAP											0													80.0	65.0	70.0					11																	67818263		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2470A>C	11.37:g.67818263A>C	ENSP00000265686:p.Thr824Pro		O75877|Q8WVC5	Missense_Mutation	SNP	pfam_ATPase_V0/A0_a	p.T824P	ENST00000265686.3	37	c.2470	CCDS8177.1	11	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094949	0.36952	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.86230	-2.09;-2.09	4.23	-3.26	0.05064	.	0.434976	0.25919	N	0.027451	D	0.86514	0.5951	M	0.69523	2.12	0.38987	D	0.959062	P	0.50272	0.933	P	0.54590	0.756	T	0.81792	-0.0770	10	0.87932	D	0	-33.8744	3.371	0.07220	0.3353:0.0:0.2565:0.4081	.	824	Q13488	VPP3_HUMAN	P	824;608	ENSP00000265686:T824P;ENSP00000434407:T608P	ENSP00000265686:T824P	T	+	1	0	TCIRG1	67574839	0.876000	0.30132	0.935000	0.37517	0.137000	0.21094	0.016000	0.13377	-0.736000	0.04831	-0.566000	0.04163	ACC	TCIRG1	-	pfam_ATPase_V0/A0_a	ENSG00000110719		0.592	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCIRG1	HGNC	protein_coding	OTTHUMT00000394305.1	87	0.00	0	A	NM_006019		67818263	67818263	+1	no_errors	ENST00000265686	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	0.987	C
TCOF1	6949	genome.wustl.edu	37	5	149751663	149751663	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:149751663T>G	ENST00000504761.2	+	7	734	c.734T>G	c.(733-735)gTg>gGg	p.V245G	TCOF1_ENST00000394269.3_Missense_Mutation_p.V245G|TCOF1_ENST00000377797.3_Missense_Mutation_p.V245G|TCOF1_ENST00000323668.7_Intron|TCOF1_ENST00000513346.1_Missense_Mutation_p.V245G|TCOF1_ENST00000445265.2_Intron|TCOF1_ENST00000451292.1_Missense_Mutation_p.V245G|TCOF1_ENST00000439160.2_Missense_Mutation_p.V245G			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	245					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGGAAGGTGGGGGATGTG	0.582																																						dbGAP											0													33.0	37.0	35.0					5																	149751663		1945	4133	6078	-	-	-	SO:0001583	missense	0				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.734T>G	5.37:g.149751663T>G	ENSP00000421655:p.Val245Gly		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.V245G	ENST00000504761.2	37	c.734	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357802	0.61403	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000439160;ENST00000394269;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;1.6;-0.01;-0.85;-0.85	4.74	2.45	0.29901	.	0.969175	0.08394	N	0.952496	T	0.52533	0.1740	N	0.14661	0.345	0.19300	N	0.99998	B;B;B;B	0.32829	0.266;0.266;0.224;0.386	B;B;B;B	0.31101	0.068;0.068;0.047;0.124	T	0.39742	-0.9599	10	0.19147	T	0.46	-2.1338	4.5146	0.11928	0.0:0.4533:0.0:0.5467	.	245;245;245;245	Q13428-7;Q13428-6;Q13428;Q13428-5	.;.;TCOF_HUMAN;.	G	245	ENSP00000400939:V245G;ENSP00000367028:V245G;ENSP00000406888:V245G;ENSP00000377811:V245G;ENSP00000390717:V245G;ENSP00000421655:V245G;ENSP00000427484:V245G	ENSP00000367028:V245G	V	+	2	0	TCOF1	149731856	0.000000	0.05858	0.480000	0.27341	0.876000	0.50452	-0.226000	0.09139	0.518000	0.28383	0.459000	0.35465	GTG	TCOF1	-	NULL	ENSG00000070814		0.582	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	88	0.00	0	T	NM_001008656		149751663	149751663	+1	no_errors	ENST00000451292	ensembl	human	known	69_37n	missense	51	18.75	12	SNP	0.253	G
TEAD2	8463	genome.wustl.edu	37	19	49846611	49846611	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:49846611A>C	ENST00000311227.2	-	10	1044	c.954T>G	c.(952-954)ggT>ggG	p.G318G	TEAD2_ENST00000539846.1_Silent_p.G190G|TEAD2_ENST00000377214.4_Silent_p.G321G|TEAD2_ENST00000601519.1_Silent_p.G321G|TEAD2_ENST00000593945.1_Silent_p.G322G|TEAD2_ENST00000598810.1_Silent_p.G322G	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	318	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TGATGCTGCCACCGGCCCCTG	0.587																																						dbGAP											0													86.0	75.0	78.0					19																	49846611		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.954T>G	19.37:g.49846611A>C			B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Silent	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.G321	ENST00000311227.2	37	c.963	CCDS12761.1	19																																																																																			TEAD2	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000074219		0.587	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEAD2	HGNC	protein_coding	OTTHUMT00000465465.1	129	0.76	1	A	NM_003598		49846611	49846611	-1	no_errors	ENST00000377214	ensembl	human	known	69_37n	silent	56	21.13	15	SNP	0.019	C
TEKT3	64518	genome.wustl.edu	37	17	15217422	15217422	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:15217422A>C	ENST00000395930.1	-	6	1046	c.860T>G	c.(859-861)gTg>gGg	p.V287G	TEKT3_ENST00000338696.2_Missense_Mutation_p.V287G|RNU6-799P_ENST00000363567.1_RNA	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	287					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GACCCTCTCCACTCCGCGGAA	0.522																																						dbGAP											0													198.0	137.0	158.0					17																	15217422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.860T>G	17.37:g.15217422A>C	ENSP00000379263:p.Val287Gly		B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	pfam_Tektin,prints_Tektin	p.V287G	ENST00000395930.1	37	c.860	CCDS11169.1	17	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250016	0.59212	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000539245	T;T;T	0.02631	4.22;4.22;4.22	5.43	5.43	0.79202	.	0.052616	0.85682	D	0.000000	T	0.13157	0.0319	M	0.72118	2.19	0.80722	D	1	D	0.57571	0.98	P	0.62740	0.906	T	0.00148	-1.1989	10	0.87932	D	0	-9.182	15.471	0.75439	1.0:0.0:0.0:0.0	.	287	Q9BXF9	TEKT3_HUMAN	G	287;287;121	ENSP00000379263:V287G;ENSP00000343995:V287G;ENSP00000443280:V121G	ENSP00000343995:V287G	V	-	2	0	TEKT3	15158147	1.000000	0.71417	0.992000	0.48379	0.130000	0.20726	8.962000	0.93254	2.061000	0.61500	0.533000	0.62120	GTG	TEKT3	-	pfam_Tektin	ENSG00000125409		0.522	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT3	HGNC	protein_coding	OTTHUMT00000130385.2	137	0.72	1	A	NM_031898		15217422	15217422	-1	no_errors	ENST00000338696	ensembl	human	known	69_37n	missense	117	18.18	26	SNP	1.000	C
TEP1	7011	genome.wustl.edu	37	14	20851645	20851645	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:20851645A>C	ENST00000262715.5	-	26	3908		c.e26+1		TEP1_ENST00000556935.1_Splice_Site|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCTCACACTCACCCGGGGAAG	0.577																																						dbGAP											0													80.0	73.0	76.0					14																	20851645		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3867+1T>G	14.37:g.20851645A>C			A0AUV9	Splice_Site	SNP	-	e25+2	ENST00000262715.5	37	c.3867+2	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968745	0.74131	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6074	0.68489	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEP1	19921485	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.629000	0.74267	2.079000	0.62486	0.533000	0.62120	.	TEP1	-	-	ENSG00000129566		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	123	0.81	1	A	NM_007110	Intron	20851645	20851645	-1	no_errors	ENST00000262715	ensembl	human	known	69_37n	splice_site	101	17.21	21	SNP	1.000	C
TESK2	10420	genome.wustl.edu	37	1	45810737	45810737	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:45810737T>G	ENST00000372086.3	-	11	1891	c.1491A>C	c.(1489-1491)ccA>ccC	p.P497P	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Silent_p.P468P|TESK2_ENST00000538496.1_Silent_p.P414P|TESK2_ENST00000341771.6_Silent_p.P468P	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	497					actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					CCCGGAATGGTGGGATCTCTT	0.547																																						dbGAP											0													144.0	151.0	149.0					1																	45810737		1918	4126	6044	-	-	-	SO:0001819	synonymous_variant	0			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.1491A>C	1.37:g.45810737T>G			Q5T422|Q5T423|Q8N520|Q9Y3Q6	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P497	ENST00000372086.3	37	c.1491	CCDS41323.1	1																																																																																			TESK2	-	NULL	ENSG00000070759		0.547	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESK2	HGNC	protein_coding	OTTHUMT00000020523.1	182	0.00	0	T	NM_007170		45810737	45810737	-1	no_errors	ENST00000372086	ensembl	human	known	69_37n	silent	114	13.64	18	SNP	0.780	G
TEX13B	56156	genome.wustl.edu	37	X	107224369	107224369	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:107224369T>G	ENST00000302917.1	-	3	972	c.880A>C	c.(880-882)Acc>Ccc	p.T294P		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	294										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCTTTGCTGGTGAAGGGGGTA	0.547																																						dbGAP											0													138.0	127.0	131.0					X																	107224369		2199	4300	6499	-	-	-	SO:0001583	missense	0			AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.880A>C	X.37:g.107224369T>G	ENSP00000303777:p.Thr294Pro		Q5JYF6	Missense_Mutation	SNP	NULL	p.T294P	ENST00000302917.1	37	c.880	CCDS14534.1	X	.	.	.	.	.	.	.	.	.	.	T	12.75	2.030798	0.35797	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.49	1.02	0.19986	.	.	.	.	.	T	0.15825	0.0381	N	0.08118	0	0.09310	N	1	P	0.49090	0.919	P	0.46110	0.504	T	0.07770	-1.0755	8	0.34782	T	0.22	.	3.4006	0.07321	0.2334:0.0:0.2373:0.5292	.	294	Q9BXU2	TX13B_HUMAN	P	294	.	ENSP00000303777:T294P	T	-	1	0	TEX13B	107111025	0.018000	0.18449	0.002000	0.10522	0.029000	0.11900	-0.240000	0.08952	0.093000	0.17368	0.412000	0.27726	ACC	TEX13B	-	NULL	ENSG00000170925		0.547	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX13B	HGNC	protein_coding	OTTHUMT00000057857.1	169	0.58	1	T			107224369	107224369	-1	no_errors	ENST00000302917	ensembl	human	known	69_37n	missense	180	10.89	22	SNP	0.002	G
TFDP3	51270	genome.wustl.edu	37	X	132352054	132352054	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:132352054T>G	ENST00000310125.4	-	1	322	c.234A>C	c.(232-234)ccA>ccC	p.P78P		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	78					cellular response to DNA damage stimulus (GO:0006974)|G1/S transition of mitotic cell cycle (GO:0000082)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GAGTGCTGGGTGGGTTTGGGC	0.537																																						dbGAP											0													124.0	104.0	111.0					X																	132352054		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF219119	CCDS14636.2	Xq26.2	2009-03-25			ENSG00000183434	ENSG00000183434			24603	protein-coding gene	gene with protein product	"""E2F-like protein"", ""cancer/testis antigen 30"""	300772				12097419	Standard	NM_016521		Approved	HCA661, E2F-like, CT30	uc004exb.1	Q5H9I0	OTTHUMG00000022433	ENST00000310125.4:c.234A>C	X.37:g.132352054T>G			Q6DK49|Q9NZ54	Silent	SNP	pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr	p.P78	ENST00000310125.4	37	c.234	CCDS14636.2	X																																																																																			TFDP3	-	pirsf_Transcription_factor_DP_subgr	ENSG00000183434		0.537	TFDP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFDP3	HGNC	protein_coding	OTTHUMT00000058337.1	209	0.93	2	T	NM_016521		132352054	132352054	-1	no_errors	ENST00000310125	ensembl	human	known	69_37n	silent	261	10.00	29	SNP	1.000	G
TFPT	29844	genome.wustl.edu	37	19	54611423	54611423	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:54611423A>C	ENST00000391759.1	-	5	957	c.552T>G	c.(550-552)ggT>ggG	p.G184G	TFPT_ENST00000391758.1_Silent_p.G175G|NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391757.1_Missense_Mutation_p.V172G	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	184					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TGGGCCCCTCACCGGGGGCTG	0.682			T	TCF3	pre-B ALL																																	dbGAP		Dom	yes		19	19q13	29844	TCF3 (E2A) fusion partner (in childhood Leukemia)		L	0													26.0	31.0	29.0					19																	54611423		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.552T>G	19.37:g.54611423A>C				Missense_Mutation	SNP	NULL	p.V172G	ENST00000391759.1	37	c.515	CCDS12878.1	19	.	.	.	.	.	.	.	.	.	.	G	1.859	-0.463036	0.04476	.	.	ENSG00000105619	ENST00000391757	.	.	.	5.04	-10.1	0.00402	.	.	.	.	.	T	0.17066	0.0410	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.11842	-1.0571	5	0.33940	T	0.23	-15.7643	0.4261	0.00464	0.3582:0.2253:0.1671:0.2494	.	.	.	.	G	172	.	ENSP00000375637:V172G	V	-	2	0	TFPT	59303235	0.000000	0.05858	0.001000	0.08648	0.334000	0.28698	-2.651000	0.00857	-3.804000	0.00105	-0.766000	0.03442	GTG	TFPT	-	NULL	ENSG00000105619		0.682	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TFPT	HGNC	protein_coding	OTTHUMT00000141215.4	66	0.00	0	A	NM_013342		54611423	54611423	-1	no_errors	ENST00000391757	ensembl	human	putative	69_37n	missense	51	21.21	14	SNP	0.000	C
TFR2	7036	genome.wustl.edu	37	7	100225367	100225367	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:100225367A>C	ENST00000462107.1	-	15	1969	c.1682T>G	c.(1681-1683)gTg>gGg	p.V561G	TFR2_ENST00000544242.1_Splice_Site_p.V102G|TFR2_ENST00000223051.3_Splice_Site_p.V561G|TFR2_ENST00000431692.1_3'UTR			Q9UP52	TFR2_HUMAN	transferrin receptor 2	561					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	CCCAACTTACACCTCAGCATC	0.617																																						dbGAP											0													99.0	93.0	95.0					7																	100225367		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.1682+1T>G	7.37:g.100225367A>C			A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom	p.V561G	ENST00000462107.1	37	c.1682	CCDS34707.1	7	.	.	.	.	.	.	.	.	.	.	A	24.1	4.498412	0.85069	.	.	ENSG00000106327	ENST00000223051;ENST00000462107;ENST00000544242	T;T;T	0.41065	1.01;1.01;1.01	5.32	5.32	0.75619	Peptidase M28 (1);	0.066477	0.64402	D	0.000013	T	0.47340	0.1440	L	0.35793	1.09	0.80722	D	1	D	0.53312	0.959	P	0.57846	0.828	T	0.36212	-0.9757	9	.	.	.	-25.0349	11.7181	0.51666	1.0:0.0:0.0:0.0	.	561	Q9UP52	TFR2_HUMAN	G	561;561;102	ENSP00000223051:V561G;ENSP00000420525:V561G;ENSP00000443656:V102G	.	V	-	2	0	TFR2	100063303	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.763000	0.62257	2.031000	0.59945	0.374000	0.22700	GTG	TFR2	-	pfam_Peptidase_M28	ENSG00000106327		0.617	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFR2	HGNC	protein_coding	OTTHUMT00000356392.3	92	0.00	0	A	NM_003227	Missense_Mutation	100225367	100225367	-1	no_errors	ENST00000223051	ensembl	human	known	69_37n	missense	78	17.89	17	SNP	1.000	C
TG	7038	genome.wustl.edu	37	8	134042126	134042126	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:134042126T>G	ENST00000220616.4	+	41	7137	c.7097T>G	c.(7096-7098)gTg>gGg	p.V2366G	TG_ENST00000377869.1_Missense_Mutation_p.V2309G|TG_ENST00000519543.1_Missense_Mutation_p.V499G|TG_ENST00000542445.1_Missense_Mutation_p.V736G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2366					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGACCTGGGTGCAGACCCAC	0.622																																						dbGAP											0													45.0	47.0	46.0					8																	134042126		2203	4300	6503	-	-	-	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.7097T>G	8.37:g.134042126T>G	ENSP00000220616:p.Val2366Gly		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.V2366G	ENST00000220616.4	37	c.7097	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109909	0.77210	.	.	ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000542445;ENST00000519543	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.47	5.47	0.80525	Carboxylesterase, type B (1);	0.166603	0.38897	N	0.001540	D	0.93693	0.7985	H	0.98577	4.27	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.996;0.992;0.997	D	0.95860	0.8882	10	0.87932	D	0	.	14.3795	0.66902	0.0:0.0:0.0:1.0	.	499;736;2366	E7EVM0;F5GWW5;P01266	.;.;THYG_HUMAN	G	2309;1172;2366;736;499	ENSP00000367100:V2309G;ENSP00000220616:V2366G;ENSP00000441693:V736G;ENSP00000430430:V499G	ENSP00000220616:V2366G	V	+	2	0	TG	134111308	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	5.589000	0.67523	2.077000	0.62373	0.459000	0.35465	GTG	TG	-	pfam_CarbesteraseB,pirsf_Thyroglobulin	ENSG00000042832		0.622	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	174	0.57	1	T	NM_003235		134042126	134042126	+1	no_errors	ENST00000220616	ensembl	human	known	69_37n	missense	102	18.25	23	SNP	1.000	G
TGM5	9333	genome.wustl.edu	37	15	43531130	43531130	+	Silent	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:43531130T>C	ENST00000220420.5	-	9	1237	c.1230A>G	c.(1228-1230)ggA>ggG	p.G410G	TGM5_ENST00000349114.4_Silent_p.G328G	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	410					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	GCTCCTTCCCTCCCTGGACGA	0.507																																						dbGAP											0													168.0	129.0	142.0					15																	43531130		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1230A>G	15.37:g.43531130T>C			O43549|Q0VF40|Q9UEZ4	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.G410	ENST00000220420.5	37	c.1230	CCDS32212.1	15																																																																																			TGM5	-	NULL	ENSG00000104055		0.507	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM5	HGNC	protein_coding	OTTHUMT00000432257.1	167	0.59	1	T	NM_004245		43531130	43531130	-1	no_errors	ENST00000220420	ensembl	human	known	69_37n	silent	235	14.55	40	SNP	0.080	C
TGS1	96764	genome.wustl.edu	37	8	56723588	56723588	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:56723588A>C	ENST00000260129.5	+	11	2769	c.2292A>C	c.(2290-2292)ccA>ccC	p.P764P		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	764	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)			TCCTCAGCCCACCTTGGGGAG	0.433																																					Esophageal Squamous(34;275 823 4842 34837 48447)	dbGAP											0													159.0	158.0	159.0					8																	56723588		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2292A>C	8.37:g.56723588A>C			A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Silent	SNP	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.P764	ENST00000260129.5	37	c.2292	CCDS34894.1	8																																																																																			TGS1	-	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom	ENSG00000137574		0.433	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1	263	0.38	1	A	NM_024831		56723588	56723588	+1	no_errors	ENST00000260129	ensembl	human	known	69_37n	silent	407	10.75	49	SNP	0.015	C
NELFCD	51497	genome.wustl.edu	37	20	57561217	57561217	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:57561217A>C	ENST00000344018.3	+	2	184	c.157A>C	c.(157-159)Acc>Ccc	p.T53P	NELFCD_ENST00000602795.1_Missense_Mutation_p.T62P			Q8IXH7	NELFD_HUMAN	negative elongation factor complex member C/D	53					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	membrane (GO:0016020)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)											TAAATTTTCCACCCGGGATTA	0.463																																						dbGAP											0													103.0	107.0	106.0					20																	57561217		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161479	CCDS13473.1, CCDS13473.2	20q13	2013-01-31	2013-01-31	2013-01-31	ENSG00000101158	ENSG00000101158			15934	protein-coding gene	gene with protein product	"""trihydrophobin 1"""	605297	"""TH1-like (Drosophila homolog)"", ""TH1-like (Drosophila)"""	TH1L		11030415, 11042152	Standard	NM_198976		Approved	HSPC130, TH1, NELF-C, NELF-D	uc002yag.4	Q8IXH7	OTTHUMG00000032861	ENST00000344018.3:c.157A>C	20.37:g.57561217A>C	ENSP00000342300:p.Thr53Pro		B4DE06|Q9BYL2|Q9H405|Q9H888|Q9H8T3|Q9NVX5|Q9P029|Q9UGN1|Q9UGN2|Q9UGN3	Missense_Mutation	SNP	pfam_TH1	p.T53P	ENST00000344018.3	37	c.157		20	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753206	0.69648	.	.	ENSG00000101158	ENST00000344018	.	.	.	5.43	5.43	0.79202	.	0.051257	0.85682	D	0.000000	T	0.74412	0.3713	M	0.70595	2.14	0.58432	D	0.999998	D;P;P	0.58970	0.984;0.771;0.739	P;P;B	0.59288	0.855;0.486;0.386	T	0.77048	-0.2732	9	0.56958	D	0.05	-39.6376	14.0555	0.64767	1.0:0.0:0.0:0.0	.	53;62;53	B4E2K1;E1P5H4;Q8IXH7	.;.;NELFD_HUMAN	P	53	.	ENSP00000342300:T53P	T	+	1	0	TH1L	56994612	1.000000	0.71417	0.972000	0.41901	0.990000	0.78478	8.361000	0.90098	2.053000	0.61076	0.533000	0.62120	ACC	TH1L	-	pfam_TH1	ENSG00000101158		0.463	NELFCD-201	KNOWN	basic|appris_principal	protein_coding	TH1L	HGNC	protein_coding		186	0.00	0	A	NM_198976		57561217	57561217	+1	no_errors	ENST00000344018	ensembl	human	known	69_37n	missense	169	11.05	21	SNP	1.000	C
THEG	51298	genome.wustl.edu	37	19	367128	367128	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:367128A>C	ENST00000342640.4	-	7	892	c.850T>G	c.(850-852)Tgg>Ggg	p.W284G	THEG_ENST00000346878.2_Missense_Mutation_p.W260G	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	284					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGGGTCCCACTCTTCCAAG	0.592																																						dbGAP											0													133.0	132.0	133.0					19																	367128		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.850T>G	19.37:g.367128A>C	ENSP00000340088:p.Trp284Gly		A6NMJ8	Missense_Mutation	SNP	smart_THEG	p.W284G	ENST00000342640.4	37	c.850	CCDS12025.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.95|11.95	1.791401|1.791401	0.31685|0.31685	.|.	.|.	ENSG00000105549|ENSG00000105549	ENST00000530711|ENST00000342640;ENST00000346878	.|T;T	.|0.20463	.|2.07;2.14	3.32|3.32	3.32|3.32	0.38043|0.38043	.|.	.|3.967780	.|0.00166	.|N	.|0.000008	T|T	0.45458|0.45458	0.1343|0.1343	M|M	0.64997|0.64997	1.995|1.995	0.37326|0.37326	D|D	0.909754|0.909754	.|D;D	.|0.76494	.|0.998;0.999	.|D;D	.|0.71414	.|0.961;0.973	T|T	0.23048|0.23048	-1.0199|-1.0199	6|10	0.87932|0.54805	D|T	0|0.06	-16.4752|-16.4752	8.3741|8.3741	0.32432|0.32432	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|260;284	.|Q9P2T0-2;Q9P2T0	.|.;THEG_HUMAN	R|G	61|284;260	.|ENSP00000340088:W284G;ENSP00000264820:W260G	ENSP00000431699:S61R|ENSP00000340088:W284G	S|W	-|-	3|1	2|0	THEG|THEG	318128|318128	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.218000|0.218000	0.24690|0.24690	3.045000|3.045000	0.49838|0.49838	1.745000|1.745000	0.51790|0.51790	0.454000|0.454000	0.30748|0.30748	AGT|TGG	THEG	-	NULL	ENSG00000105549		0.592	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THEG	HGNC	protein_coding	OTTHUMT00000384431.2	148	0.67	1	A			367128	367128	-1	no_errors	ENST00000342640	ensembl	human	known	69_37n	missense	178	14.76	31	SNP	0.995	C
THEMIS2	9473	genome.wustl.edu	37	1	28209268	28209268	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:28209268A>G	ENST00000373921.3	+	4	1437	c.1433A>G	c.(1432-1434)gAg>gGg	p.E478G	THEMIS2_ENST00000328928.7_Missense_Mutation_p.E349G|THEMIS2_ENST00000373925.1_Intron|THEMIS2_ENST00000373927.3_Intron	NM_001105556.1	NP_001099026.1	Q5TEJ8	THMS2_HUMAN	thymocyte selection associated family member 2	478	CABIT 2.				cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTGCGGCTGGAGGAGAAGATC	0.592																																						dbGAP											0													80.0	81.0	81.0					1																	28209268		2080	4209	6289	-	-	-	SO:0001583	missense	0			AF044896	CCDS30653.1, CCDS30654.1, CCDS41290.1, CCDS65461.1	1p35.2	2012-07-10	2012-07-10	2012-07-10	ENSG00000130775	ENSG00000130775			16839	protein-coding gene	gene with protein product	"""induced by contact to basement membrane 1"""		"""chromosome 1 open reading frame 38"""	C1orf38		16219472	Standard	XM_005246041		Approved	ICB-1, Icb-1	uc001bpc.4	Q5TEJ8	OTTHUMG00000003735	ENST00000373921.3:c.1433A>G	1.37:g.28209268A>G	ENSP00000363031:p.Glu478Gly		A2RTZ3|B4DZT9|B4DZY3|O60560|Q5TEJ1|Q5TEJ9|Q5TEK1|Q68DP4|Q9BYB6|Q9NS90	Missense_Mutation	SNP	NULL	p.E478G	ENST00000373921.3	37	c.1433	CCDS41290.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.2|23.2	4.386144|4.386144	0.82902|0.82902	.|.	.|.	ENSG00000130775|ENSG00000130775	ENST00000328928;ENST00000373921|ENST00000456990	T;T|.	0.16597|.	2.33;2.33|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77322|0.77322	0.4113|0.4113	M|M	0.83953|0.83953	2.67|2.67	0.41175|0.41175	D|D	0.986196|0.986196	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;1.0;1.0|.	T|T	0.80294|0.80294	-0.1443|-0.1443	10|5	0.87932|.	D|.	0|.	-33.625|-33.625	14.6377|14.6377	0.68702|0.68702	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	349;282;478|.	Q5TEJ8-5;Q5TEJ8-6;Q5TEJ8|.	.;.;THMS2_HUMAN|.	G|G	349;478|226	ENSP00000329862:E349G;ENSP00000363031:E478G|.	ENSP00000329862:E349G|.	E|R	+|+	2|1	0|2	C1orf38|C1orf38	28081855|28081855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.834000|0.834000	0.47266|0.47266	8.770000|8.770000	0.91746|0.91746	2.014000|2.014000	0.59158|0.59158	0.454000|0.454000	0.30748|0.30748	GAG|AGG	THEMIS2	-	NULL	ENSG00000130775		0.592	THEMIS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THEMIS2	HGNC	protein_coding	OTTHUMT00000011148.1	117	0.85	1	A	NM_004848		28209268	28209268	+1	no_errors	ENST00000373921	ensembl	human	known	69_37n	missense	57	24.00	18	SNP	1.000	G
THOC5	8563	genome.wustl.edu	37	22	29908076	29908076	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:29908076T>G	ENST00000490103.1	-	18	1853	c.1731A>C	c.(1729-1731)ccA>ccC	p.P577P	THOC5_ENST00000397873.2_Silent_p.P577P|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Silent_p.P577P|THOC5_ENST00000397872.1_Silent_p.P577P	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	577					blastocyst development (GO:0001824)|cell morphogenesis (GO:0000902)|monocyte differentiation (GO:0030224)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of macrophage differentiation (GO:0045650)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|primitive hemopoiesis (GO:0060215)|regulation of mRNA export from nucleus (GO:0010793)|regulation of stem cell division (GO:2000035)|RNA splicing (GO:0008380)|stem cell division (GO:0017145)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	mRNA binding (GO:0003729)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAAAACAGGTGGGATGGAGG	0.547																																						dbGAP											0													125.0	97.0	107.0					22																	29908076		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023200	CCDS13859.1	22q12	2013-02-11			ENSG00000100296	ENSG00000100296		"""THO complex subunits"""	19074	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 79"""	612733	"""chromosome 22 open reading frame 19"""	C22orf19		11979277, 8242058, 10231032, 19015024, 18373705	Standard	NM_003678		Approved	PK1.3, KIAA0983, Fmip, fSAP79	uc003afs.3	Q13769	OTTHUMG00000151291	ENST00000490103.1:c.1731A>C	22.37:g.29908076T>G			O60839|Q9UPZ5	Silent	SNP	pfam_THO_Thoc5	p.P577	ENST00000490103.1	37	c.1731	CCDS13859.1	22																																																																																			THOC5	-	NULL	ENSG00000100296		0.547	THOC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC5	HGNC	protein_coding	OTTHUMT00000322097.1	180	0.00	0	T	NM_003678		29908076	29908076	-1	no_errors	ENST00000397871	ensembl	human	known	69_37n	silent	212	11.25	27	SNP	0.972	G
TIAM1	7074	genome.wustl.edu	37	21	32624467	32624467	+	Missense_Mutation	SNP	A	A	C	rs201325790		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr21:32624467A>C	ENST00000286827.3	-	6	1473	c.1002T>G	c.(1000-1002)agT>agG	p.S334R	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.S334R	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	334					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTCAATCCCACTGTCTGCAA	0.572																																						dbGAP											0													172.0	182.0	178.0					21																	32624467		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1002T>G	21.37:g.32624467A>C	ENSP00000286827:p.Ser334Arg		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.S334R	ENST00000286827.3	37	c.1002	CCDS13609.1	21	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587897	0.66105	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.56103	0.6;0.48	4.94	-3.08	0.05347	.	0.000000	0.85682	D	0.000000	T	0.65196	0.2668	M	0.62723	1.935	0.49582	D	0.999807	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.85130	0.997;0.994;0.994	T	0.66176	-0.5989	10	0.87932	D	0	.	14.5702	0.68205	0.4081:0.0:0.5918:0.0	.	334;334;334	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	R	334;175;334	ENSP00000286827:S334R;ENSP00000441570:S334R	ENSP00000286827:S334R	S	-	3	2	TIAM1	31546338	0.180000	0.23148	0.969000	0.41365	0.994000	0.84299	-0.361000	0.07612	-0.791000	0.04486	-0.250000	0.11733	AGT	TIAM1	-	NULL	ENSG00000156299		0.572	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAM1	HGNC	protein_coding	OTTHUMT00000192552.1	73	0.00	0	A	NM_003253		32624467	32624467	-1	no_errors	ENST00000286827	ensembl	human	known	69_37n	missense	63	12.50	9	SNP	0.883	C
TIMM17B	10245	genome.wustl.edu	37	X	48751344	48751344	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:48751344T>G	ENST00000376582.3	-	5	468				TIMM17B_ENST00000495490.2_Intron|TIMM17B_ENST00000396779.3_Intron|TIMM17B_ENST00000472645.1_Intron|TIMM17B_ENST00000465150.2_Intron	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CAGAACAGGGTGGAAGGGGCT	0.637																																						dbGAP											0													20.0	20.0	20.0					X																	48751344		2192	4294	6486	-	-	-	SO:0001627	intron_variant	0			AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.319+35A>C	X.37:g.48751344T>G			A8K2E2|J3KPV3|Q9UJV0	RNA	SNP	-	NULL	ENST00000376582.3	37	NULL	CCDS14308.1	X																																																																																			TIMM17B	-	-	ENSG00000126768		0.637	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM17B	HGNC	protein_coding	OTTHUMT00000083411.2	104	0.95	1	T	NM_005834		48751344	48751344	-1	no_errors	ENST00000466995	ensembl	human	known	69_37n	rna	33	20.93	9	SNP	0.000	G
TJAP1	93643	genome.wustl.edu	37	6	43472735	43472735	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:43472735T>G	ENST00000372445.5	+	11	1192	c.816T>G	c.(814-816)ggT>ggG	p.G272G	TJAP1_ENST00000436109.2_Silent_p.G262G|TJAP1_ENST00000259751.1_Silent_p.G262G|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Silent_p.G272G|TJAP1_ENST00000372444.2_Silent_p.G262G|TJAP1_ENST00000372452.1_Silent_p.G262G|TJAP1_ENST00000372449.1_Silent_p.G272G	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	272	Pro-rich.				Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTGTCCCAGGTGATCCAGCCA	0.652																																						dbGAP											0													45.0	47.0	46.0					6																	43472735		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.816T>G	6.37:g.43472735T>G			Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Silent	SNP	NULL	p.G272	ENST00000372445.5	37	c.816	CCDS55004.1	6																																																																																			TJAP1	-	NULL	ENSG00000137221		0.652	TJAP1-202	KNOWN	basic|CCDS	protein_coding	TJAP1	HGNC	protein_coding	OTTHUMT00000040629.1	61	0.00	0	T	NM_080604		43472735	43472735	+1	no_errors	ENST00000372445	ensembl	human	known	69_37n	silent	36	22.92	11	SNP	0.743	G
TKTL1	8277	genome.wustl.edu	37	X	153533455	153533455	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:153533455A>C	ENST00000369915.3	+	2	323				TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_5'UTR	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1						glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCTGGCCTCACTGTGCACAG	0.557											OREG0003590	type=REGULATORY REGION|Gene=TKTL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.135-201A>C	X.37:g.153533455A>C		1756	A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Silent	SNP	pfam_Transketolase_N,pfam_DH_E1	p.S20	ENST00000369915.3	37	c.60	CCDS35448.1	X																																																																																			TKTL1	-	NULL	ENSG00000007350		0.557	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TKTL1	HGNC	protein_coding	OTTHUMT00000058923.1	25	0.00	0	A	NM_012253		153533455	153533455	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000426203	ensembl	human	putative	69_37n	silent	15	21.05	4	SNP	0.000	C
TLL2	7093	genome.wustl.edu	37	10	98156999	98156999	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:98156999A>C	ENST00000357947.3	-	11	1553	c.1328T>G	c.(1327-1329)gTg>gGg	p.V443G	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	443	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GCGGAACTCCACCCAGAGCCG	0.587																																						dbGAP											0													65.0	56.0	59.0					10																	98156999		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1328T>G	10.37:g.98156999A>C	ENSP00000350630:p.Val443Gly		A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.V443G	ENST00000357947.3	37	c.1328	CCDS7449.1	10	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648247	0.87958	.	.	ENSG00000095587	ENST00000357947	T	0.46063	0.88	4.79	4.79	0.61399	CUB (5);	0.177067	0.26883	N	0.022011	T	0.69984	0.3172	H	0.94886	3.595	0.80722	D	1	D	0.64830	0.994	P	0.60345	0.873	T	0.79790	-0.1655	10	0.87932	D	0	.	13.6863	0.62517	1.0:0.0:0.0:0.0	.	443	Q9Y6L7	TLL2_HUMAN	G	443	ENSP00000350630:V443G	ENSP00000350630:V443G	V	-	2	0	TLL2	98146989	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.958000	0.93099	2.009000	0.58944	0.528000	0.53228	GTG	TLL2	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB	ENSG00000095587		0.587	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	96	0.00	0	A			98156999	98156999	-1	no_errors	ENST00000357947	ensembl	human	known	69_37n	missense	55	15.38	10	SNP	1.000	C
TLN2	83660	genome.wustl.edu	37	15	62994308	62994308	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:62994308T>G	ENST00000561311.1	+	17	2044	c.1814T>G	c.(1813-1815)gTg>gGg	p.V605G	TLN2_ENST00000306829.6_Missense_Mutation_p.V605G			Q9Y4G6	TLN2_HUMAN	talin 2	605					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GATGATGAGGTGGGCAGCGGG	0.577																																						dbGAP											0													82.0	67.0	72.0					15																	62994308		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1814T>G	15.37:g.62994308T>G	ENSP00000453508:p.Val605Gly		A6NLB8	Missense_Mutation	SNP	pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.V605G	ENST00000561311.1	37	c.1814	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941579	0.34283	.	.	ENSG00000171914	ENST00000306829	T	0.68025	-0.3	5.41	5.41	0.78517	Talin, central (3);	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	N	0.04508	-0.205	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.38222	-0.9671	10	0.19147	T	0.46	-24.0929	15.7385	0.77866	0.0:0.0:0.0:1.0	.	605	Q9Y4G6	TLN2_HUMAN	G	605	ENSP00000303476:V605G	ENSP00000303476:V605G	V	+	2	0	TLN2	60781600	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.126000	0.57937	2.179000	0.69175	0.459000	0.35465	GTG	TLN2	-	pfam_Talin_cent,superfamily_Talin_cent	ENSG00000171914		0.577	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	HGNC	protein_coding	OTTHUMT00000257878.2	129	0.00	0	T			62994308	62994308	+1	no_errors	ENST00000306829	ensembl	human	known	69_37n	missense	62	20.51	16	SNP	1.000	G
TM6SF1	53346	genome.wustl.edu	37	15	83781630	83781630	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:83781630A>C	ENST00000322019.9	+	2	448	c.174A>C	c.(172-174)ccA>ccC	p.P58P	TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000565774.1_Silent_p.P58P|RP11-382A20.2_ENST00000565513.1_RNA|TM6SF1_ENST00000379386.4_Silent_p.P58P|TM6SF1_ENST00000379390.6_Silent_p.P58P			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	58						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AAAGAAAACCACCCCGGGACC	0.483																																						dbGAP											0													145.0	128.0	133.0					15																	83781630		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.174A>C	15.37:g.83781630A>C			A8K7T5|H3BU56|Q4U0U5	Silent	SNP	pfam_Transmembrane_6/97	p.P58	ENST00000322019.9	37	c.174	CCDS10323.1	15																																																																																			TM6SF1	-	NULL	ENSG00000136404		0.483	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TM6SF1	HGNC	protein_coding	OTTHUMT00000304009.1	170	0.58	1	A	NM_023003		83781630	83781630	+1	no_errors	ENST00000379386	ensembl	human	known	69_37n	silent	192	17.80	42	SNP	0.478	C
TM6SF2	53345	genome.wustl.edu	37	19	19378895	19378895	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:19378895A>C	ENST00000389363.4	-	7	683	c.611T>G	c.(610-612)gTg>gGg	p.V204G	TM6SF2_ENST00000586107.1_5'Flank|AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	204						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			TTCCTCTTGCACCTGGCCCAG	0.512																																						dbGAP											0													37.0	43.0	41.0					19																	19378895		1943	4146	6089	-	-	-	SO:0001630	splice_region_variant	0			AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.610-1T>G	19.37:g.19378895A>C			Q0IJ64	Missense_Mutation	SNP	pfam_Transmembrane_6/97	p.V204G	ENST00000389363.4	37	c.611	CCDS42528.1	19	.	.	.	.	.	.	.	.	.	.	A	9.868	1.198137	0.22037	.	.	ENSG00000213996	ENST00000389363;ENST00000269990	T	0.29397	1.57	4.68	4.68	0.58851	.	0.156360	0.26616	U	0.023391	T	0.37433	0.1003	M	0.72118	2.19	0.58432	D	0.999991	P	0.48911	0.917	B	0.44315	0.446	T	0.40289	-0.9571	10	0.87932	D	0	-13.4595	12.065	0.53583	1.0:0.0:0.0:0.0	.	204	Q9BZW4	TM6S2_HUMAN	G	204	ENSP00000374014:V204G	ENSP00000269990:V204G	V	-	2	0	TM6SF2	19239895	0.995000	0.38212	0.810000	0.32431	0.111000	0.19643	3.551000	0.53698	1.750000	0.51863	0.460000	0.39030	GTG	TM6SF2	-	NULL	ENSG00000213996		0.512	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM6SF2	HGNC	protein_coding	OTTHUMT00000460122.2	123	0.00	0	A	NM_203510	Missense_Mutation	19378895	19378895	-1	no_errors	ENST00000389363	ensembl	human	known	69_37n	missense	61	17.95	14	SNP	0.673	C
TMBIM1	64114	genome.wustl.edu	37	2	219141821	219141821	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:219141821A>C	ENST00000444881.1	-	11	1366	c.641T>G	c.(640-642)gTg>gGg	p.V214G	PNKD_ENST00000472650.1_Intron|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000396809.2_Splice_Site_p.V214G|TMBIM1_ENST00000258412.3_Splice_Site_p.V214G|TMBIM1_ENST00000445635.1_Splice_Site_p.V40G			Q969X1	LFG3_HUMAN	transmembrane BAX inhibitor motif containing 1	214					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of Fas signaling pathway (GO:1902045)|negative regulation of metalloenzyme activity (GO:0048553)|positive regulation of blood vessel remodeling (GO:2000504)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	death receptor binding (GO:0005123)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGAAGTCCACCTGCCAGGA	0.572																																						dbGAP											0													70.0	57.0	62.0					2																	219141821		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BN000408	CCDS2412.1	2q35	2010-03-18			ENSG00000135926	ENSG00000135926			23410	protein-coding gene	gene with protein product		610364				12477932	Standard	NM_022152		Approved	PP1201, RECS1, LFG3	uc002vhp.1	Q969X1	OTTHUMG00000133105	ENST00000444881.1:c.640-1T>G	2.37:g.219141821A>C			B3KQY6|Q8N1R3|Q8TAM3|Q96K13	Missense_Mutation	SNP	pfam_Bax_inhibitor_1-related	p.V214G	ENST00000444881.1	37	c.641	CCDS2412.1	2	.	.	.	.	.	.	.	.	.	.	A	21.8	4.199120	0.79015	.	.	ENSG00000135926	ENST00000258412;ENST00000444881;ENST00000396809;ENST00000445635;ENST00000543441	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.04	5.04	0.67666	.	0.124091	0.53938	D	0.000047	T	0.65249	0.2673	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.968	T	0.69176	-0.5214	10	0.56958	D	0.05	-21.4208	13.1741	0.59615	1.0:0.0:0.0:0.0	.	152;214	B4DNZ1;Q969X1	.;TMBI1_HUMAN	G	214;214;214;40;152	ENSP00000258412:V214G;ENSP00000409738:V214G;ENSP00000380025:V214G;ENSP00000401491:V40G	ENSP00000258412:V214G	V	-	2	0	TMBIM1	218850065	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.088000	0.76901	2.126000	0.65437	0.533000	0.62120	GTG	TMBIM1	-	pfam_Bax_inhibitor_1-related	ENSG00000135926		0.572	TMBIM1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMBIM1	HGNC	protein_coding	OTTHUMT00000338559.1	112	0.88	1	A	NM_022152	Missense_Mutation	219141821	219141821	-1	no_errors	ENST00000258412	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	1.000	C
TMCC2	9911	genome.wustl.edu	37	1	205241005	205241005	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:205241005T>G	ENST00000358024.3	+	5	2272	c.1883T>G	c.(1882-1884)gTg>gGg	p.V628G	TMCC2_ENST00000545499.1_Missense_Mutation_p.V550G|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000329800.7_Missense_Mutation_p.V388G|TMCC2_ENST00000330675.7_Missense_Mutation_p.V403G	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	628						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAGCAGCAGGTGGTACAGCTG	0.657																																						dbGAP											0													93.0	87.0	89.0					1																	205241005		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.1883T>G	1.37:g.205241005T>G	ENSP00000350718:p.Val628Gly		A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE	p.V628G	ENST00000358024.3	37	c.1883	CCDS30984.1	1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.382310	0.82792	.	.	ENSG00000133069	ENST00000358024;ENST00000545499;ENST00000330675;ENST00000329800	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.32	5.32	0.75619	.	0.059799	0.64402	D	0.000003	T	0.67449	0.2894	M	0.82517	2.595	0.80722	D	1	D;D;P	0.63046	0.99;0.992;0.942	P;P;P	0.61070	0.814;0.883;0.764	T	0.69727	-0.5067	10	0.39692	T	0.17	.	15.1067	0.72326	0.0:0.0:0.0:1.0	.	388;403;628	G5E963;B2RAX5;O75069	.;.;TMCC2_HUMAN	G	628;550;403;388	ENSP00000350718:V628G;ENSP00000437943:V550G;ENSP00000331842:V403G;ENSP00000329436:V388G	ENSP00000329436:V388G	V	+	2	0	TMCC2	203507628	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.088000	0.71371	2.233000	0.73108	0.533000	0.62120	GTG	TMCC2	-	pfam_Predicted_TM_coiled-coil_2	ENSG00000133069		0.657	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMCC2	HGNC	protein_coding	OTTHUMT00000090383.1	73	0.00	0	T	NM_014858		205241005	205241005	+1	no_errors	ENST00000358024	ensembl	human	known	69_37n	missense	61	18.67	14	SNP	1.000	G
TMCO5A	145942	genome.wustl.edu	37	15	38229057	38229057	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:38229057T>G	ENST00000319669.4	+	3	252	c.150T>G	c.(148-150)agT>agG	p.S50R	TMCO5A_ENST00000559502.1_Missense_Mutation_p.S50R|TMCO5A_ENST00000558158.1_Missense_Mutation_p.S50R|TMCO5A_ENST00000540944.1_Missense_Mutation_p.S50R	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	50						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GGCTGGAAAGTGAGATCATTC	0.512																																						dbGAP											0													71.0	69.0	70.0					15																	38229057		2200	4297	6497	-	-	-	SO:0001583	missense	0			BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.150T>G	15.37:g.38229057T>G	ENSP00000327234:p.Ser50Arg		Q8NA63	Missense_Mutation	SNP	NULL	p.S50R	ENST00000319669.4	37	c.150	CCDS10046.1	15	.	.	.	.	.	.	.	.	.	.	T	0.260	-1.000542	0.02128	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.42	4.42	0.53409	.	1.223680	0.05366	N	0.534593	T	0.33177	0.0854	N	0.25485	0.75	0.25479	N	0.987758	B;B	0.32160	0.358;0.358	B;B	0.36186	0.219;0.219	T	0.15464	-1.0436	9	0.08381	T	0.77	-11.1029	10.3656	0.44021	0.0:0.0:0.0:1.0	.	50;50	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	R	50	.	ENSP00000327234:S50R	S	+	3	2	TMCO5A	36016349	0.941000	0.31946	0.895000	0.35142	0.187000	0.23431	1.180000	0.32005	2.217000	0.71921	0.533000	0.62120	AGT	TMCO5A	-	NULL	ENSG00000166069		0.512	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO5A	HGNC	protein_coding	OTTHUMT00000252012.1	219	0.45	1	T	NM_152453		38229057	38229057	+1	no_errors	ENST00000319669	ensembl	human	known	69_37n	missense	134	10.67	16	SNP	0.927	G
TMCO5A	145942	genome.wustl.edu	37	15	38229083	38229083	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:38229083T>G	ENST00000319669.4	+	3	278	c.176T>G	c.(175-177)gTg>gGg	p.V59G	TMCO5A_ENST00000559502.1_Missense_Mutation_p.V59G|TMCO5A_ENST00000558158.1_Missense_Mutation_p.V59G|TMCO5A_ENST00000540944.1_Missense_Mutation_p.V59G	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	59						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CGGGGCCTGGTGGAAGATGAA	0.517																																						dbGAP											0													93.0	92.0	92.0					15																	38229083		2200	4297	6497	-	-	-	SO:0001583	missense	0			BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.176T>G	15.37:g.38229083T>G	ENSP00000327234:p.Val59Gly		Q8NA63	Missense_Mutation	SNP	NULL	p.V59G	ENST00000319669.4	37	c.176	CCDS10046.1	15	.	.	.	.	.	.	.	.	.	.	T	1.584	-0.530717	0.04112	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.42	1.16	0.20824	.	0.577524	0.16821	N	0.198180	T	0.22475	0.0542	N	0.24115	0.695	0.19775	N	0.999959	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.13019	-1.0525	9	0.26408	T	0.33	-0.2266	3.7933	0.08730	0.0:0.5518:0.1951:0.2531	.	59;59	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	G	59	.	ENSP00000327234:V59G	V	+	2	0	TMCO5A	36016375	0.009000	0.17119	0.121000	0.21740	0.025000	0.11179	0.324000	0.19610	0.257000	0.21650	-0.408000	0.06270	GTG	TMCO5A	-	NULL	ENSG00000166069		0.517	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO5A	HGNC	protein_coding	OTTHUMT00000252012.1	258	0.77	2	T	NM_152453		38229083	38229083	+1	no_errors	ENST00000319669	ensembl	human	known	69_37n	missense	143	14.53	25	SNP	0.142	G
TMED8	283578	genome.wustl.edu	37	14	77818024	77818024	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:77818024T>G	ENST00000216468.7	-	2	244	c.189A>C	c.(187-189)tcA>tcC	p.S63S	RN7SL137P_ENST00000584622.1_RNA	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	63					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACCTGTGGGGTGAGGAGCAGG	0.423																																						dbGAP											0													131.0	140.0	137.0					14																	77818024		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.189A>C	14.37:g.77818024T>G			B3KTI6|Q3MJB0|Q9P1V9	Silent	SNP	superfamily_GOLD,pfscan_GOLD	p.S63	ENST00000216468.7	37	c.189	CCDS32125.1	14																																																																																			TMED8	-	NULL	ENSG00000100580		0.423	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED8	HGNC	protein_coding	OTTHUMT00000414100.1	345	0.29	1	T	NM_213601		77818024	77818024	-1	no_errors	ENST00000216468	ensembl	human	known	69_37n	silent	231	12.17	32	SNP	0.566	G
TMED8	283578	genome.wustl.edu	37	14	77818047	77818047	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:77818047T>G	ENST00000216468.7	-	2	221	c.166A>C	c.(166-168)Acc>Ccc	p.T56P	RN7SL137P_ENST00000584622.1_RNA	NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	56					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCTGGATCGGTGGCAGAAGCC	0.398																																						dbGAP											0													120.0	129.0	126.0					14																	77818047		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095650	CCDS32125.1	14q24.3	2005-08-26	2005-08-26	2005-01-07		ENSG00000100580			18633	protein-coding gene	gene with protein product			"""family with sequence similarity 15, member B"", ""transmembrane emp24 domain containing 8"""	FAM15B			Standard	NM_213601		Approved		uc001xto.1	Q6PL24		ENST00000216468.7:c.166A>C	14.37:g.77818047T>G	ENSP00000216468:p.Thr56Pro		B3KTI6|Q3MJB0|Q9P1V9	Missense_Mutation	SNP	superfamily_GOLD,pfscan_GOLD	p.T56P	ENST00000216468.7	37	c.166	CCDS32125.1	14	.	.	.	.	.	.	.	.	.	.	T	10.57	1.386611	0.25031	.	.	ENSG00000100580	ENST00000216468	T	0.22945	1.93	5.56	4.4	0.53042	.	0.451713	0.23937	N	0.043085	T	0.12902	0.0313	N	0.08118	0	0.18873	N	0.999983	B	0.09022	0.002	B	0.04013	0.001	T	0.17899	-1.0354	10	0.41790	T	0.15	-1.1561	8.7696	0.34724	0.8235:0.0:0.0:0.1765	.	56	Q6PL24	TMED8_HUMAN	P	56	ENSP00000216468:T56P	ENSP00000216468:T56P	T	-	1	0	TMED8	76887800	0.999000	0.42202	0.982000	0.44146	0.265000	0.26407	1.073000	0.30691	0.945000	0.37605	-0.391000	0.06502	ACC	TMED8	-	NULL	ENSG00000100580		0.398	TMED8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED8	HGNC	protein_coding	OTTHUMT00000414100.1	347	0.29	1	T	NM_213601		77818047	77818047	-1	no_errors	ENST00000216468	ensembl	human	known	69_37n	missense	223	12.50	32	SNP	0.992	G
TMEM106A	113277	genome.wustl.edu	37	17	41369810	41369810	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:41369810A>C	ENST00000331615.3	+	9	1016	c.779A>C	c.(778-780)cAc>cCc	p.H260P	TMEM106A_ENST00000588659.1_Missense_Mutation_p.H260P|TMEM106A_ENST00000541594.1_Missense_Mutation_p.H212P|TMEM106A_ENST00000536052.1_Missense_Mutation_p.H213P|LINC00854_ENST00000593624.1_RNA|LINC00854_ENST00000595400.1_RNA|LINC00854_ENST00000427995.1_RNA	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	260						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)		CTGACCCCTCACCCACCATGA	0.547																																						dbGAP											0													217.0	196.0	203.0					17																	41369810		2203	4296	6499	-	-	-	SO:0001583	missense	0			AK056132	CCDS11462.1, CCDS74073.1	17q21.31	2012-01-23			ENSG00000184988	ENSG00000184988			28288	protein-coding gene	gene with protein product							Standard	XM_006721658		Approved	MGC20235	uc002idn.1	Q96A25		ENST00000331615.3:c.779A>C	17.37:g.41369810A>C	ENSP00000330774:p.His260Pro		A8K2X2|B7Z698	Missense_Mutation	SNP	pfam_DUF1356_TMEM106	p.H260P	ENST00000331615.3	37	c.779	CCDS11462.1	17	.	.	.	.	.	.	.	.	.	.	A	10.60	1.396686	0.25205	.	.	ENSG00000184988	ENST00000331615;ENST00000536052;ENST00000541594	T;T;T	0.30714	1.94;1.52;1.93	5.09	-2.94	0.05581	.	0.474548	0.18062	N	0.152912	T	0.21427	0.0516	L	0.44542	1.39	0.09310	N	1	P;P;P	0.50943	0.94;0.826;0.894	P;B;B	0.45037	0.467;0.205;0.276	T	0.23226	-1.0194	10	0.27082	T	0.32	-13.1169	5.8694	0.18795	0.4136:0.0:0.444:0.1424	.	213;212;260	B7Z779;B7Z698;Q96A25	.;.;T106A_HUMAN	P	260;213;212	ENSP00000330774:H260P;ENSP00000439835:H213P;ENSP00000439844:H212P	ENSP00000330774:H260P	H	+	2	0	TMEM106A	38725336	0.099000	0.21834	0.197000	0.23402	0.022000	0.10575	0.017000	0.13399	-0.468000	0.06922	-0.290000	0.09829	CAC	TMEM106A	-	NULL	ENSG00000184988		0.547	TMEM106A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM106A	HGNC	protein_coding	OTTHUMT00000453470.2	114	0.00	0	A	NM_145041		41369810	41369810	+1	no_errors	ENST00000331615	ensembl	human	known	69_37n	missense	61	22.78	18	SNP	0.071	C
TMEM104	54868	genome.wustl.edu	37	17	72832545	72832545	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:72832545A>C	ENST00000335464.5	+	10	1372	c.1210A>C	c.(1210-1212)Acc>Ccc	p.T404P	TMEM104_ENST00000582330.1_Missense_Mutation_p.T404P|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	404						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TCCCACCATCACCCTGGTGCC	0.652																																						dbGAP											0													82.0	66.0	71.0					17																	72832545		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1210A>C	17.37:g.72832545A>C	ENSP00000334849:p.Thr404Pro		Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.T404P	ENST00000335464.5	37	c.1210	CCDS32723.1	17	.	.	.	.	.	.	.	.	.	.	A	26.1	4.707873	0.89018	.	.	ENSG00000109066	ENST00000335464	T	0.02280	4.36	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.11153	0.0272	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.01078	-1.1459	10	0.49607	T	0.09	-40.0928	15.5307	0.75960	1.0:0.0:0.0:0.0	.	404	Q8NE00	TM104_HUMAN	P	404	ENSP00000334849:T404P	ENSP00000334849:T404P	T	+	1	0	TMEM104	70344140	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.910000	0.92685	2.143000	0.66587	0.459000	0.35465	ACC	TMEM104	-	pfam_AA_transpt_TM	ENSG00000109066		0.652	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	HGNC	protein_coding	OTTHUMT00000444442.1	52	0.00	0	A	NM_017728		72832545	72832545	+1	no_errors	ENST00000335464	ensembl	human	known	69_37n	missense	16	29.17	7	SNP	1.000	C
TMEM194B	100131211	genome.wustl.edu	37	2	191375137	191375137	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:191375137T>G	ENST00000409150.3	-	8	1146	c.1080A>C	c.(1078-1080)aaA>aaC	p.K360N		NM_001142645.1	NP_001136117.1	A6NFY4	T194B_HUMAN	transmembrane protein 194B	360						integral component of membrane (GO:0016021)											GAAAGTCGGGTTTTCGGCAGG	0.522																																						dbGAP											0													88.0	96.0	93.0					2																	191375137		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46476.1	2q32.2	2008-06-10			ENSG00000189362	ENSG00000189362			33700	protein-coding gene	gene with protein product							Standard	NM_001142645		Approved		uc010zgf.2	A6NFY4	OTTHUMG00000154454	ENST00000409150.3:c.1080A>C	2.37:g.191375137T>G	ENSP00000386292:p.Lys360Asn		B4DYG6	Missense_Mutation	SNP	pfam_DUF2215	p.K360N	ENST00000409150.3	37	c.1080	CCDS46476.1	2	.	.	.	.	.	.	.	.	.	.	T	6.854	0.526797	0.13066	.	.	ENSG00000189362	ENST00000409150	T	0.45668	0.89	4.73	-7.43	0.01383	Domain of unknown function DUF2215 (1);	.	.	.	.	T	0.17831	0.0428	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.15870	0.014	T	0.21075	-1.0256	9	0.52906	T	0.07	.	2.7937	0.05394	0.097:0.1744:0.2557:0.473	.	360	A6NFY4	T194B_HUMAN	N	360	ENSP00000386292:K360N	ENSP00000386292:K360N	K	-	3	2	TMEM194B	191083382	0.004000	0.15560	0.003000	0.11579	0.029000	0.11900	-0.135000	0.10420	-1.262000	0.02459	-0.353000	0.07706	AAA	TMEM194B	-	pfam_DUF2215	ENSG00000189362		0.522	TMEM194B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM194B	HGNC	protein_coding	OTTHUMT00000335299.1	146	0.00	0	T	XM_001723498		191375137	191375137	-1	no_errors	ENST00000409150	ensembl	human	known	69_37n	missense	110	16.54	22	SNP	0.002	G
TMEM211	255349	genome.wustl.edu	37	22	25331450	25331450	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:25331450A>C	ENST00000423535.1	-	3	452	c.453T>G	c.(451-453)ggT>ggG	p.G151G	TMEM211_ENST00000407886.1_Silent_p.G80G|TMEM211_ENST00000382744.1_Silent_p.G80G			Q6ICI0	TM211_HUMAN	transmembrane protein 211	151						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGTAACCCCAACCCAGCCGGC	0.557																																						dbGAP											0													90.0	79.0	83.0					22																	25331450		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33624.1	22q11.23	2009-01-12			ENSG00000206069	ENSG00000206069			33725	protein-coding gene	gene with protein product							Standard	NM_001001663		Approved	bA9F11.1	uc003abk.1	Q6ICI0	OTTHUMG00000150790	ENST00000423535.1:c.453T>G	22.37:g.25331450A>C				Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.G151	ENST00000423535.1	37	c.453		22																																																																																			TMEM211	-	pfam_Lipome_HGMIC_fus_partner-like	ENSG00000206069		0.557	TMEM211-202	KNOWN	basic|appris_principal	protein_coding	TMEM211	HGNC	protein_coding		102	0.97	1	A	NM_001001663		25331450	25331450	-1	no_errors	ENST00000423535	ensembl	human	known	69_37n	silent	74	17.58	16	SNP	1.000	C
TMEM230	29058	genome.wustl.edu	37	20	5081513	5081513	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:5081513T>G	ENST00000379286.2	-	5	707	c.287A>C	c.(286-288)cAc>cCc	p.H96P	TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000379277.2_Missense_Mutation_p.H96P|RNA5SP474_ENST00000391234.1_RNA|TMEM230_ENST00000202834.7_Missense_Mutation_p.H96P|TMEM230_ENST00000379283.2_Missense_Mutation_p.H96P|TMEM230_ENST00000379279.2_Missense_Mutation_p.H96P|TMEM230_ENST00000342308.5_Missense_Mutation_p.H159P	NM_001009924.1	NP_001009924.1	Q96A57	TM230_HUMAN	transmembrane protein 230	96						integral component of membrane (GO:0016021)											GATGCGCAGGTGGTAAAATCC	0.527											OREG0025754	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													134.0	120.0	125.0					20																	5081513		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161392	CCDS13086.1, CCDS33438.1	20p13	2012-03-16	2012-03-16	2012-03-16	ENSG00000089063	ENSG00000089063			15876	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 30"""	C20orf30			Standard	XM_005260713		Approved	HSPC274	uc002wlk.3	Q96A57	OTTHUMG00000031796	ENST00000379286.2:c.287A>C	20.37:g.5081513T>G	ENSP00000368588:p.His96Pro	623	B2RDM8|D3DVZ9|Q0VGC8|Q5TDS5|Q96ES2|Q9P0A7	Missense_Mutation	SNP	pfam_DUF872_TM	p.H159P	ENST00000379286.2	37	c.476	CCDS13086.1	20	.	.	.	.	.	.	.	.	.	.	T	15.36	2.811848	0.50527	.	.	ENSG00000089063	ENST00000379283;ENST00000342308;ENST00000379299;ENST00000202834;ENST00000379286;ENST00000379279;ENST00000379277	T	0.51325	0.71	4.82	4.82	0.62117	.	0.042780	0.85682	D	0.000000	T	0.53658	0.1810	M	0.85373	2.75	0.80722	D	1	B;B	0.22983	0.003;0.078	B;B	0.21917	0.011;0.037	T	0.59386	-0.7464	10	0.66056	D	0.02	-13.3873	13.3464	0.60575	0.0:0.0:0.0:1.0	.	96;159	Q96A57;Q96A57-2	CT030_HUMAN;.	P	96;159;96;96;96;96;96	ENSP00000341364:H159P	ENSP00000202834:H96P	H	-	2	0	C20orf30	5029513	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	7.158000	0.77470	2.025000	0.59659	0.397000	0.26171	CAC	TMEM230	-	pfam_DUF872_TM	ENSG00000089063		0.527	TMEM230-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM230	HGNC	protein_coding	OTTHUMT00000077846.1	190	0.52	1	T			5081513	5081513	-1	no_errors	ENST00000342308	ensembl	human	known	69_37n	missense	100	13.79	16	SNP	1.000	G
TMEM25	84866	genome.wustl.edu	37	11	118403722	118403722	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:118403722A>C	ENST00000313236.5	+	4	526	c.473A>C	c.(472-474)aAc>aCc	p.N158T	RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000354284.4_Missense_Mutation_p.N158T|TMEM25_ENST00000544878.1_Intron|TMEM25_ENST00000411589.2_Missense_Mutation_p.N158T|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000533102.1_Missense_Mutation_p.N158T|RP11-770J1.3_ENST00000525992.2_RNA|TMEM25_ENST00000359862.4_Missense_Mutation_p.N158T|TMEM25_ENST00000524725.1_Missense_Mutation_p.N158T|TMEM25_ENST00000442938.2_Missense_Mutation_p.N158T|TMEM25_ENST00000354064.7_Missense_Mutation_p.N54T	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	158						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTGCGTGCCAACCCGCCGGCC	0.607																																						dbGAP											0													84.0	84.0	84.0					11																	118403722		2200	4295	6495	-	-	-	SO:0001583	missense	0			AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.473A>C	11.37:g.118403722A>C	ENSP00000315635:p.Asn158Thr		A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like	p.N158T	ENST00000313236.5	37	c.473	CCDS8398.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.430886|4.430886	0.83776|0.83776	.|.	.|.	ENSG00000149582|ENSG00000149582	ENST00000411589;ENST00000442938;ENST00000359862;ENST00000354284;ENST00000533137;ENST00000354064;ENST00000533102;ENST00000313236;ENST00000524725|ENST00000526973	T;T;T;T;T;T;T;T;T|.	0.39229|.	1.82;1.77;1.82;1.77;1.34;1.09;1.77;1.8;1.82|.	5.97|5.97	4.83|4.83	0.62350|0.62350	Immunoglobulin-like fold (1);|.	0.094992|.	0.64402|.	D|.	0.000001|.	T|T	0.50616|0.50616	0.1626|0.1626	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	D;P;P;P;D;D;B;P|.	0.76494|.	0.998;0.675;0.675;0.782;0.999;0.999;0.176;0.782|.	D;B;B;B;D;D;B;B|.	0.80764|.	0.987;0.111;0.111;0.223;0.994;0.991;0.046;0.223|.	T|T	0.42327|0.42327	-0.9458|-0.9458	10|5	0.66056|.	D|.	0.02|.	-27.5102|-27.5102	12.3561|12.3561	0.55176|0.55176	0.8588:0.1412:0.0:0.0|0.8588:0.1412:0.0:0.0	.|.	158;158;158;158;158;158;54;158|.	Q86YD3;B7Z4E4;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-3;Q86YD3-2|.	TMM25_HUMAN;.;.;.;.;.;.;.|.	T|P	158;158;158;158;126;54;158;158;158|42	ENSP00000411882:N158T;ENSP00000416071:N158T;ENSP00000352924:N158T;ENSP00000346237:N158T;ENSP00000433938:N126T;ENSP00000278959:N54T;ENSP00000431548:N158T;ENSP00000315635:N158T;ENSP00000431205:N158T|.	ENSP00000315635:N158T|.	N|T	+|+	2|1	0|0	TMEM25|TMEM25	117908932|117908932	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.716000|6.716000	0.74702|0.74702	1.055000|1.055000	0.40461|0.40461	0.533000|0.533000	0.62120|0.62120	AAC|ACC	TMEM25	-	NULL	ENSG00000149582		0.607	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM25	HGNC	protein_coding	OTTHUMT00000389266.1	134	0.74	1	A	NM_032780		118403722	118403722	+1	no_errors	ENST00000533102	ensembl	human	known	69_37n	missense	60	15.49	11	SNP	1.000	C
TMEM63A	9725	genome.wustl.edu	37	1	226044690	226044690	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:226044690T>G	ENST00000366835.3	-	16	1675	c.1405A>C	c.(1405-1407)Acc>Ccc	p.T469P	TMEM63A_ENST00000474478.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	469					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)					AGCAGGAGGGTGGGGAAGAAC	0.607																																						dbGAP											0													64.0	68.0	66.0					1																	226044690		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.1405A>C	1.37:g.226044690T>G	ENSP00000355800:p.Thr469Pro		Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	pfam_DUF221	p.T469P	ENST00000366835.3	37	c.1405	CCDS31042.1	1	.	.	.	.	.	.	.	.	.	.	T	31	5.063867	0.93898	.	.	ENSG00000196187	ENST00000366835	T	0.30714	1.52	5.12	5.12	0.69794	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.59756	0.2217	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63056	-0.6722	10	0.21540	T	0.41	-43.4931	14.915	0.70789	0.0:0.0:0.0:1.0	.	469	O94886	TM63A_HUMAN	P	469	ENSP00000355800:T469P	ENSP00000355800:T469P	T	-	1	0	TMEM63A	224111313	1.000000	0.71417	0.928000	0.36995	0.945000	0.59286	7.858000	0.86971	1.936000	0.56123	0.379000	0.24179	ACC	TMEM63A	-	pfam_DUF221	ENSG00000196187		0.607	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	202	0.48	1	T	NM_014698		226044690	226044690	-1	no_errors	ENST00000366835	ensembl	human	known	69_37n	missense	158	17.35	34	SNP	0.999	G
TMEM63A	9725	genome.wustl.edu	37	1	226053537	226053537	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:226053537T>G	ENST00000366835.3	-	10	1017				TMEM63A_ENST00000474478.1_5'UTR|TMEM63A_ENST00000537914.1_Intron	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A						ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GCCCTGCGGGTGGGGCTGTGT	0.627																																						dbGAP											0													30.0	32.0	31.0					1																	226053537		692	1591	2283	-	-	-	SO:0001627	intron_variant	0				CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.746+59A>C	1.37:g.226053537T>G			Q53GI7|Q5TE96|Q8N2U2	RNA	SNP	-	NULL	ENST00000366835.3	37	NULL	CCDS31042.1	1																																																																																			TMEM63A	-	-	ENSG00000196187		0.627	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63A	HGNC	protein_coding	OTTHUMT00000091154.2	43	0.00	0	T	NM_014698		226053537	226053537	-1	no_errors	ENST00000474478	ensembl	human	known	69_37n	rna	59	21.52	17	SNP	0.803	G
TMEM63B	55362	genome.wustl.edu	37	6	44117659	44117659	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:44117659A>C	ENST00000259746.9	+	16	1660	c.1477A>C	c.(1477-1479)Acc>Ccc	p.T493P	TMEM63B_ENST00000323267.6_Missense_Mutation_p.T493P			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	493					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCTCCTTCCCACCATCGTCTA	0.617																																						dbGAP											0													210.0	147.0	168.0					6																	44117659		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.1477A>C	6.37:g.44117659A>C	ENSP00000259746:p.Thr493Pro		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.T493P	ENST00000259746.9	37	c.1477	CCDS34461.1	6	.	.	.	.	.	.	.	.	.	.	A	18.56	3.649797	0.67358	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.29655	1.56;1.56	4.42	4.42	0.53409	Domain of unknown function DUF221 (1);	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	M	0.77820	2.39	0.47819	D	0.999525	D	0.76494	0.999	D	0.81914	0.995	T	0.47560	-0.9108	10	0.46703	T	0.11	.	13.2795	0.60207	1.0:0.0:0.0:0.0	.	493	Q5T3F8	TM63B_HUMAN	P	493	ENSP00000259746:T493P;ENSP00000327154:T493P	ENSP00000259746:T493P	T	+	1	0	TMEM63B	44225637	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.042000	0.76565	1.985000	0.57927	0.408000	0.27601	ACC	TMEM63B	-	pfam_DUF221	ENSG00000137216		0.617	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2	166	0.60	1	A	XM_166410		44117659	44117659	+1	no_errors	ENST00000259746	ensembl	human	known	69_37n	missense	226	15.67	42	SNP	1.000	C
TMEM63B	55362	genome.wustl.edu	37	6	44121568	44121568	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:44121568A>C	ENST00000259746.9	+	21	2281	c.2098A>C	c.(2098-2100)Acc>Ccc	p.T700P	TMEM63B_ENST00000323267.6_Missense_Mutation_p.T700P			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	700					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTTCTTTTCCACCATGCGCAC	0.647																																						dbGAP											0													57.0	54.0	55.0					6																	44121568		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.2098A>C	6.37:g.44121568A>C	ENSP00000259746:p.Thr700Pro		B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	pfam_DUF221	p.T700P	ENST00000259746.9	37	c.2098	CCDS34461.1	6	.	.	.	.	.	.	.	.	.	.	A	20.4	3.979127	0.74360	.	.	ENSG00000137216	ENST00000259746;ENST00000323267	T;T	0.30714	1.52;1.52	4.63	4.63	0.57726	Domain of unknown function DUF221 (1);	0.057532	0.64402	D	0.000002	T	0.27900	0.0687	L	0.44542	1.39	0.39570	D	0.969264	P	0.48350	0.909	P	0.56865	0.808	T	0.04650	-1.0936	10	0.51188	T	0.08	.	9.6916	0.40131	0.8254:0.1745:0.0:0.0	.	700	Q5T3F8	TM63B_HUMAN	P	700	ENSP00000259746:T700P;ENSP00000327154:T700P	ENSP00000259746:T700P	T	+	1	0	TMEM63B	44229546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.616000	0.67709	1.960000	0.56953	0.459000	0.35465	ACC	TMEM63B	-	pfam_DUF221	ENSG00000137216		0.647	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM63B	HGNC	protein_coding	OTTHUMT00000040712.2	41	0.00	0	A	XM_166410		44121568	44121568	+1	no_errors	ENST00000259746	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	1.000	C
TMPRSS11D	9407	genome.wustl.edu	37	4	68688168	68688168	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr4:68688168A>C	ENST00000283916.6	-	10	1242	c.1144T>G	c.(1144-1146)Ttt>Gtt	p.F382V	TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.F265V|UBA6-AS1_ENST00000500538.2_RNA	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	382	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCCACAATAAACCAAAGCCGC	0.473																																						dbGAP											0													87.0	81.0	83.0					4																	68688168		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.1144T>G	4.37:g.68688168A>C	ENSP00000283916:p.Phe382Val		Q08AF6	Missense_Mutation	SNP	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_SEA,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_SEA,pfscan_Peptidase_S1_S6	p.F382V	ENST00000283916.6	37	c.1144	CCDS3518.1	4	.	.	.	.	.	.	.	.	.	.	A	17.00	3.275632	0.59649	.	.	ENSG00000153802	ENST00000283916;ENST00000545541	T;T	0.57436	0.4;0.4	5.78	4.53	0.55603	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.250674	0.28225	N	0.016139	T	0.40570	0.1122	N	0.03071	-0.42	0.40810	D	0.983417	D	0.58268	0.982	P	0.57620	0.824	T	0.47484	-0.9114	10	0.42905	T	0.14	.	10.022	0.42048	0.8489:0.0:0.0:0.1511	.	382	O60235	TM11D_HUMAN	V	382;265	ENSP00000283916:F382V;ENSP00000442045:F265V	ENSP00000283916:F382V	F	-	1	0	TMPRSS11D	68370763	1.000000	0.71417	0.993000	0.49108	0.227000	0.25037	2.665000	0.46791	2.214000	0.71695	0.528000	0.53228	TTT	TMPRSS11D	-	pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000153802		0.473	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11D	HGNC	protein_coding	OTTHUMT00000251430.3	83	0.00	0	A	NM_004262		68688168	68688168	-1	no_errors	ENST00000283916	ensembl	human	known	69_37n	missense	46	22.95	14	SNP	0.993	C
TMPRSS13	84000	genome.wustl.edu	37	11	117789200	117789200	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:117789200T>G	ENST00000430170.2	-	2	462	c.375A>C	c.(373-375)acA>acC	p.T125T	TMPRSS13_ENST00000528626.1_Silent_p.T125T|TMPRSS13_ENST00000526090.1_Silent_p.T125T|TMPRSS13_ENST00000445164.2_Silent_p.T125T|TMPRSS13_ENST00000524993.1_Silent_p.T125T	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	125						blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCCCCACTGGTGTTGCTCTAA	0.602																																						dbGAP											0													80.0	91.0	87.0					11																	117789200		2093	4222	6315	-	-	-	SO:0001819	synonymous_variant	0			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.375A>C	11.37:g.117789200T>G			B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_TMPRSS13,prints_Peptidase_S1A,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6	p.T125	ENST00000430170.2	37	c.375	CCDS58185.1	11																																																																																			TMPRSS13	-	pirsf_Peptidase_S1A_TMPRSS13	ENSG00000137747		0.602	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	TMPRSS13	HGNC	protein_coding	OTTHUMT00000392318.1	176	0.00	0	T	NM_032046		117789200	117789200	-1	no_errors	ENST00000445164	ensembl	human	known	69_37n	silent	133	10.74	16	SNP	0.039	G
TNC	3371	genome.wustl.edu	37	9	117853232	117853232	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:117853232A>C	ENST00000350763.4	-	2	477	c.66T>G	c.(64-66)ggT>ggG	p.G22G	TNC_ENST00000341037.4_Silent_p.G22G|TNC_ENST00000346706.3_Silent_p.G22G|TNC_ENST00000423613.2_Silent_p.G22G|TNC_ENST00000537320.1_Silent_p.G22G|TNC_ENST00000535648.1_Silent_p.G22G|TNC_ENST00000345230.3_Silent_p.G22G|TNC_ENST00000542877.1_Silent_p.G22G|TNC_ENST00000340094.3_Silent_p.G22G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	22					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGAGGACCCCACCTTCGGTAG	0.577																																						dbGAP											0													60.0	59.0	60.0					9																	117853232		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.66T>G	9.37:g.117853232A>C			C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.G22	ENST00000350763.4	37	c.66	CCDS6811.1	9																																																																																			TNC	-	NULL	ENSG00000041982		0.577	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	118	0.83	1	A	NM_002160		117853232	117853232	-1	no_errors	ENST00000350763	ensembl	human	known	69_37n	silent	73	17.98	16	SNP	0.984	C
TNFAIP8L1	126282	genome.wustl.edu	37	19	4651973	4651973	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:4651973T>G	ENST00000536716.1	+	2	238	c.92T>G	c.(91-93)gTg>gGg	p.V31G	TNFAIP8L1_ENST00000327473.4_Missense_Mutation_p.V31G	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	31					negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)				endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGTGCTGGTGGATGACACC	0.622																																						dbGAP											0													59.0	50.0	53.0					19																	4651973		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017672	CCDS12132.1	19p13.3	2008-02-05				ENSG00000185361			28279	protein-coding gene	gene with protein product		615869				12477932	Standard	NM_001167942		Approved	MGC17791	uc002max.3	Q8WVP5		ENST00000536716.1:c.92T>G	19.37:g.4651973T>G	ENSP00000444215:p.Val31Gly		D6W627	Missense_Mutation	SNP	pfam_DUF758	p.V31G	ENST00000536716.1	37	c.92	CCDS12132.1	19	.	.	.	.	.	.	.	.	.	.	T	11.29	1.596108	0.28445	.	.	ENSG00000185361	ENST00000327473;ENST00000536716	T;T	0.35421	1.31;1.31	4.43	2.33	0.28932	.	0.301194	0.24985	U	0.034025	T	0.28830	0.0715	L	0.42245	1.32	0.37060	D	0.898002	B	0.19935	0.04	B	0.22880	0.042	T	0.13953	-1.0490	10	0.87932	D	0	-9.7405	7.52	0.27622	0.0:0.1809:0.0:0.8191	.	31	Q8WVP5	TP8L1_HUMAN	G	31	ENSP00000331827:V31G;ENSP00000444215:V31G	ENSP00000331827:V31G	V	+	2	0	TNFAIP8L1	4602973	1.000000	0.71417	0.001000	0.08648	0.156000	0.22039	3.993000	0.56987	0.142000	0.18901	0.374000	0.22700	GTG	TNFAIP8L1	-	pfam_DUF758	ENSG00000185361		0.622	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L1	HGNC	protein_coding	OTTHUMT00000458662.1	64	0.00	0	T	NM_152362		4651973	4651973	+1	no_errors	ENST00000327473	ensembl	human	known	69_37n	missense	35	23.91	11	SNP	0.570	G
TNFRSF13B	23495	genome.wustl.edu	37	17	16842968	16842968	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:16842968A>C	ENST00000261652.2	-	5	787	c.775T>G	c.(775-777)Tgg>Ggg	p.W259G	TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.W213G|TNFRSF13B_ENST00000437538.2_Splice_Site|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000581616.2_5'Flank	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	259					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TGGCACCCCCACCTTCCAGCA	0.672									IgA Deficiency, Selective																													dbGAP											0													41.0	38.0	39.0					17																	16842968		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.775T>G	17.37:g.16842968A>C	ENSP00000261652:p.Trp259Gly		B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Splice_Site	SNP	-	e4+2	ENST00000261652.2	37	c.635+2	CCDS11181.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.975|2.975	-0.211539|-0.211539	0.06140|0.06140	.|.	.|.	ENSG00000240505|ENSG00000240505	ENST00000437538|ENST00000261652	.|D	.|0.92446	.|-3.04	2.99|2.99	-3.35|-3.35	0.04928|0.04928	.|.	.|0.985025	.|0.08266	.|U	.|0.972236	.|T	.|0.81394	.|0.4813	N|N	0.19112|0.19112	0.55|0.55	0.21386|0.21386	N|N	0.999704|0.999704	.|B;B	.|0.30361	.|0.277;0.182	.|B;B	.|0.32864	.|0.154;0.074	.|T	.|0.70026	.|-0.4985	.|10	.|0.42905	.|T	.|0.14	.|-2.8373	0.337|0.337	0.00327|0.00327	0.317:0.2044:0.2776:0.2011|0.317:0.2044:0.2776:0.2011	.|.	.|213;259	.|O14836-2;O14836	.|.;TR13B_HUMAN	.|G	-1|259	.|ENSP00000261652:W259G	.|ENSP00000261652:W259G	.|W	-|-	.|1	.|0	TNFRSF13B|TNFRSF13B	16783693|16783693	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.039000|0.039000	0.13416|0.13416	-0.319000|-0.319000	0.08039|0.08039	-0.429000|-0.429000	0.07329|0.07329	0.247000|0.247000	0.18012|0.18012	.|TGG	TNFRSF13B	-	-	ENSG00000240505		0.672	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF13B	HGNC	protein_coding	OTTHUMT00000131474.2	47	0.00	0	A			16842968	16842968	-1	no_errors	ENST00000437538	ensembl	human	known	69_37n	splice_site	43	23.73	14	SNP	0.000	C
TNFRSF8	943	genome.wustl.edu	37	1	12183361	12183361	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:12183361A>C	ENST00000263932.2	+	9	1189	c.967A>C	c.(967-969)Acc>Ccc	p.T323P	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.T212P|TNFRSF8_ENST00000413146.2_5'Flank	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	323					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;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)	Brentuximab vedotin(DB08870)	GAAGGACACCACCTTTGAGGC	0.617																																						dbGAP											0													34.0	34.0	34.0					1																	12183361		2203	4300	6503	-	-	-	SO:0001583	missense	0			M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.967A>C	1.37:g.12183361A>C	ENSP00000263932:p.Thr323Pro		B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8	p.T323P	ENST00000263932.2	37	c.967	CCDS144.1	1	.	.	.	.	.	.	.	.	.	.	A	8.639	0.895476	0.17613	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.32753	1.44;1.44	3.0	1.84	0.25277	.	113.472000	0.00166	N	0.000000	T	0.24624	0.0597	L	0.27053	0.805	0.09310	N	1	B;B	0.19583	0.037;0.014	B;B	0.21151	0.008;0.033	T	0.18272	-1.0342	10	0.40728	T	0.16	-15.6574	6.2517	0.20850	0.7413:0.2587:0.0:0.0	.	212;323	D3YTD8;P28908	.;TNR8_HUMAN	P	323;212	ENSP00000263932:T323P;ENSP00000390650:T212P	ENSP00000263932:T323P	T	+	1	0	TNFRSF8	12105948	0.015000	0.18098	0.134000	0.22075	0.019000	0.09904	0.577000	0.23758	0.543000	0.28864	0.459000	0.35465	ACC	TNFRSF8	-	NULL	ENSG00000120949		0.617	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF8	HGNC	protein_coding	OTTHUMT00000005130.1	68	0.00	0	A			12183361	12183361	+1	no_errors	ENST00000263932	ensembl	human	known	69_37n	missense	35	22.22	10	SNP	0.128	C
TNFSF12	8742	genome.wustl.edu	37	17	7460122	7460122	+	Missense_Mutation	SNP	A	A	G	rs201582547	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:7460122A>G	ENST00000293825.6	+	6	664	c.401A>G	c.(400-402)gAg>gGg	p.E134G	TNFSF13_ENST00000483039.1_5'Flank|TNFSF12_ENST00000557233.1_Missense_Mutation_p.E134G|TNFSF13_ENST00000380535.4_5'Flank|TNFSF12_ENST00000462811.1_3'UTR|TNFSF12-TNFSF13_ENST00000293826.4_Missense_Mutation_p.E134G|TNFSF13_ENST00000338784.4_5'Flank|TNFSF13_ENST00000396542.1_5'Flank|TNFSF13_ENST00000396545.4_5'Flank|TNFSF13_ENST00000349228.4_5'Flank	NM_003809.2	NP_003800.1	O43508	TNF12_HUMAN	tumor necrosis factor (ligand) superfamily, member 12	134					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|endothelial cell migration (GO:0043542)|immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				AGTGGCTGGGAGGAAGCCAGA	0.567																																						dbGAP											0													62.0	58.0	59.0					17																	7460122		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF030099	CCDS11109.1	17p13.1	2008-02-01			ENSG00000239697	ENSG00000239697		"""Tumor necrosis factor (ligand) superfamily"""	11927	protein-coding gene	gene with protein product		602695				9405449, 9560343	Standard	NM_003809		Approved	TWEAK, DR3LG, APO3L		O43508	OTTHUMG00000108148	ENST00000293825.6:c.401A>G	17.37:g.7460122A>G	ENSP00000293825:p.Glu134Gly		Q8IZK7|Q8WUZ7	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	p.E134G	ENST00000293825.6	37	c.401	CCDS11109.1	17	.	.	.	.	.	.	.	.	.	.	A	19.28	3.797394	0.70567	.	.	ENSG00000239697;ENSG00000239697;ENSG00000248871	ENST00000293825;ENST00000557233;ENST00000293826	T;D;D	0.95205	1.54;-3.64;-3.64	4.58	3.41	0.39046	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.622552	0.15272	N	0.271187	D	0.94241	0.8151	L	0.46157	1.445	0.29593	N	0.848271	D;D	0.61697	0.975;0.99	P;P	0.62885	0.817;0.908	D	0.88960	0.3393	10	0.59425	D	0.04	-13.0918	5.0011	0.14264	0.6314:0.1876:0.0:0.181	.	134;134	Q8IZK7;O43508	.;TNF12_HUMAN	G	134	ENSP00000293825:E134G;ENSP00000451451:E134G;ENSP00000293826:E134G	ENSP00000293825:E134G	E	+	2	0	TNFSF12-TNFSF13;TNFSF12	7400846	0.984000	0.35163	0.993000	0.49108	0.996000	0.88848	1.166000	0.31834	1.845000	0.53610	0.379000	0.24179	GAG	TNFSF12-TNFSF13	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF	ENSG00000248871		0.567	TNFSF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF12-TNFSF13	HGNC	protein_coding	OTTHUMT00000226951.2	101	0.00	0	A	NM_003809		7460122	7460122	+1	no_errors	ENST00000293826	ensembl	human	known	69_37n	missense	37	24.49	12	SNP	0.975	G
TNKS1BP1	85456	genome.wustl.edu	37	11	57075952	57075952	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:57075952A>C	ENST00000532437.1	-	5	4544	c.4233T>G	c.(4231-4233)ggT>ggG	p.G1411G	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Silent_p.G1411G			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1411	Acidic.				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)				AGTAATCTTCACCCTGGGTCT	0.607																																						dbGAP											0													184.0	193.0	190.0					11																	57075952		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.4233T>G	11.37:g.57075952A>C			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.G1411	ENST00000532437.1	37	c.4233	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL	ENSG00000149115		0.607	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	119	0.00	0	A	NM_033396		57075952	57075952	-1	no_errors	ENST00000358252	ensembl	human	known	69_37n	silent	96	18.33	22	SNP	0.000	C
TNKS1BP1	85456	genome.wustl.edu	37	11	57076399	57076399	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:57076399A>C	ENST00000532437.1	-	5	4097	c.3786T>G	c.(3784-3786)ggT>ggG	p.G1262G	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Silent_p.G1262G			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1262	Acidic.|Gly-rich.				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)				CGGCCTCCACACCTGACCAGT	0.587																																						dbGAP											0													136.0	138.0	137.0					11																	57076399		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.3786T>G	11.37:g.57076399A>C			A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.G1262	ENST00000532437.1	37	c.3786	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL	ENSG00000149115		0.587	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	56	0.00	0	A	NM_033396		57076399	57076399	-1	no_errors	ENST00000358252	ensembl	human	known	69_37n	silent	70	11.39	9	SNP	0.000	C
TNN	63923	genome.wustl.edu	37	1	175113624	175113624	+	Missense_Mutation	SNP	T	T	G	rs540231919		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:175113624T>G	ENST00000239462.4	+	18	3810	c.3697T>G	c.(3697-3699)Tgg>Ggg	p.W1233G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1233	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGTGGCTGGTGGTATAAGAA	0.478																																						dbGAP											0													127.0	113.0	118.0					1																	175113624		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3697T>G	1.37:g.175113624T>G	ENSP00000239462:p.Trp1233Gly		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.W1233G	ENST00000239462.4	37	c.3697	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.081906	0.76528	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	D	0.98090	-4.71	5.01	5.01	0.66863	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);Fibrinogen, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	H	0.98802	4.335	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98492	1.0610	10	0.87932	D	0	.	14.3757	0.66874	0.0:0.0:0.0:1.0	.	1233	Q9UQP3	TENN_HUMAN	G	1233;1056	ENSP00000239462:W1233G	ENSP00000239462:W1233G	W	+	1	0	TNN	173380247	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.855000	0.86950	1.874000	0.54306	0.391000	0.25812	TGG	TNN	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000120332		0.478	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	162	0.61	1	T	XM_040527		175113624	175113624	+1	no_errors	ENST00000239462	ensembl	human	known	69_37n	missense	238	12.13	33	SNP	1.000	G
TNRC6A	27327	genome.wustl.edu	37	16	24802508	24802508	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:24802508T>G	ENST00000395799.3	+	6	2674	c.2545T>G	c.(2545-2547)Tgg>Ggg	p.W849G	TNRC6A_ENST00000315183.7_Missense_Mutation_p.W849G	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	849	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		AAGCCAAGGGTGGTCTGTTTC	0.478																																						dbGAP											0													78.0	78.0	78.0					16																	24802508		2197	4300	6497	-	-	-	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2545T>G	16.37:g.24802508T>G	ENSP00000379144:p.Trp849Gly		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.W849G	ENST00000395799.3	37	c.2545	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	T	11.32	1.603838	0.28534	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.21932	1.98;2.05	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	M	0.72894	2.215	0.80722	D	1	B;D;B	0.76494	0.206;0.999;0.029	B;D;B	0.83275	0.248;0.996;0.018	T	0.28170	-1.0052	10	0.14252	T	0.57	-3.4998	14.1568	0.65422	0.0:0.0:0.0:1.0	.	596;849;849	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	G	849	ENSP00000326900:W849G;ENSP00000379144:W849G	ENSP00000326900:W849G	W	+	1	0	TNRC6A	24710009	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.271000	0.72569	2.279000	0.76181	0.533000	0.62120	TGG	TNRC6A	-	NULL	ENSG00000090905		0.478	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	158	0.62	1	T	NM_020847		24802508	24802508	+1	no_errors	ENST00000395799	ensembl	human	known	69_37n	missense	162	16.41	32	SNP	1.000	G
TNRC6B	23112	genome.wustl.edu	37	22	40708598	40708598	+	Missense_Mutation	SNP	A	A	C	rs138740032		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:40708598A>C	ENST00000454349.2	+	18	4736	c.4525A>C	c.(4525-4527)Aca>Cca	p.T1509P	TNRC6B_ENST00000402203.1_Missense_Mutation_p.T705P|TNRC6B_ENST00000335727.9_Missense_Mutation_p.T1399P|TNRC6B_ENST00000301923.9_Missense_Mutation_p.T705P	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1509	Silencing domain; interaction with CNOT1 and PAN3.				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						GCTGGGGGGTACAGCCACATC	0.493																																						dbGAP											0													130.0	127.0	128.0					22																	40708598		2024	4188	6212	-	-	-	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.4525A>C	22.37:g.40708598A>C	ENSP00000401946:p.Thr1509Pro		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.T1509P	ENST00000454349.2	37	c.4525	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217040	0.39201	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.29917	1.55;1.55;2.78;2.79	5.16	4.08	0.47627	.	0.183274	0.47455	D	0.000238	T	0.13200	0.0320	N	0.02202	-0.64	0.38482	D	0.947755	B;B;B;B	0.11235	0.001;0.0;0.001;0.004	B;B;B;B	0.11329	0.003;0.001;0.001;0.006	T	0.07927	-1.0747	10	0.42905	T	0.14	-0.0609	11.1245	0.48310	0.7085:0.2915:0.0:0.0	.	1509;1399;1399;705	Q9UPQ9;A8MYY3;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.;.	P	705;705;1509;1399;1399	ENSP00000306759:T705P;ENSP00000384795:T705P;ENSP00000401946:T1509P;ENSP00000338371:T1399P	ENSP00000306759:T705P	T	+	1	0	TNRC6B	39038544	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	1.489000	0.35562	1.949000	0.56562	0.533000	0.62120	ACA	TNRC6B	-	NULL	ENSG00000100354		0.493	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		71	0.00	0	A			40708598	40708598	+1	no_errors	ENST00000454349	ensembl	human	known	69_37n	missense	50	23.08	15	SNP	0.940	C
TNRC6C	57690	genome.wustl.edu	37	17	76046343	76046343	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:76046343T>G	ENST00000588061.1	+	5	1927	c.1200T>G	c.(1198-1200)agT>agG	p.S400R	TNRC6C_ENST00000301624.4_Missense_Mutation_p.S400R|TNRC6C_ENST00000541771.1_Missense_Mutation_p.S400R|TNRC6C_ENST00000335749.4_Missense_Mutation_p.S400R|TNRC6C_ENST00000544502.1_Missense_Mutation_p.S400R|TNRC6C_ENST00000588847.1_Missense_Mutation_p.S400R			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	400	Gly-rich.|Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGGAAGTAGTGATGGTTCTG	0.532																																						dbGAP											0													73.0	74.0	74.0					17																	76046343		1983	4174	6157	-	-	-	SO:0001583	missense	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1200T>G	17.37:g.76046343T>G	ENSP00000468647:p.Ser400Arg		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S400R	ENST00000588061.1	37	c.1200	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	T	7.854	0.724631	0.15439	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.18338	2.23;2.22;2.22;2.23	5.2	-3.38	0.04883	.	0.319265	0.30695	N	0.009071	T	0.13970	0.0338	L	0.47716	1.5	0.25315	N	0.989164	B;B;B	0.34103	0.277;0.374;0.437	B;B;B	0.32980	0.107;0.156;0.073	T	0.11421	-1.0588	10	0.49607	T	0.09	-2.9405	14.0397	0.64667	0.0:0.491:0.0:0.509	.	400;400;400	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	R	400	ENSP00000336783:S400R;ENSP00000301624:S400R;ENSP00000440310:S400R;ENSP00000442421:S400R	ENSP00000301624:S400R	S	+	3	2	TNRC6C	73557938	0.000000	0.05858	0.008000	0.14137	0.942000	0.58702	-2.659000	0.00852	-0.614000	0.05687	-0.290000	0.09829	AGT	TNRC6C	-	NULL	ENSG00000078687		0.532	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	54	0.00	0	T	NM_018996		76046343	76046343	+1	no_errors	ENST00000335749	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	0.032	G
TNS4	84951	genome.wustl.edu	37	17	38643342	38643342	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:38643342T>G	ENST00000254051.6	-	4	1392	c.1234A>C	c.(1234-1236)Acc>Ccc	p.T412P		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	412					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)			TTGCTCCTGGTGGCTGGACAG	0.567																																						dbGAP											0													214.0	231.0	225.0					17																	38643342		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1234A>C	17.37:g.38643342T>G	ENSP00000254051:p.Thr412Pro		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Missense_Mutation	SNP	pfam_PTB,pfam_SH2,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2	p.T412P	ENST00000254051.6	37	c.1234	CCDS11368.1	17	.	.	.	.	.	.	.	.	.	.	T	7.868	0.727436	0.15439	.	.	ENSG00000131746	ENST00000377816;ENST00000254051	T	0.19532	2.14	5.47	3.2	0.36748	.	13.638300	0.00166	N	0.000001	T	0.15782	0.0380	L	0.27053	0.805	0.09310	N	1	P	0.45283	0.855	B	0.38327	0.271	T	0.14727	-1.0462	10	0.26408	T	0.33	-6.4358	6.7675	0.23575	0.14:0.0:0.1614:0.6987	.	412	Q8IZW8	TENS4_HUMAN	P	412	ENSP00000254051:T412P	ENSP00000254051:T412P	T	-	1	0	TNS4	35896868	0.001000	0.12720	0.939000	0.37840	0.020000	0.10135	0.367000	0.20382	2.087000	0.62958	0.533000	0.62120	ACC	TNS4	-	NULL	ENSG00000131746		0.567	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS4	HGNC	protein_coding	OTTHUMT00000257154.3	274	0.36	1	T	NM_032865		38643342	38643342	-1	no_errors	ENST00000254051	ensembl	human	known	69_37n	missense	237	11.52	31	SNP	0.007	G
TNRC6C	57690	genome.wustl.edu	37	17	76094508	76094508	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:76094508T>G	ENST00000588061.1	+	19	5118	c.4391T>G	c.(4390-4392)gTg>gGg	p.V1464G	TNRC6C_ENST00000301624.4_Missense_Mutation_p.V1464G|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V1464G|TNRC6C_ENST00000335749.4_Missense_Mutation_p.V1500G|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V1500G|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V1500G			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1464	Silencing domain; interaction with CNOT1 and PAN3.|Sufficient for translational repression when tethered to a target mRNA.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTATGGAAGGTGCCCAGAAAC	0.587																																						dbGAP											0													68.0	74.0	72.0					17																	76094508		2025	4193	6218	-	-	-	SO:0001583	missense	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.4391T>G	17.37:g.76094508T>G	ENSP00000468647:p.Val1464Gly		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.V1500G	ENST00000588061.1	37	c.4499	CCDS45798.1	17	.	.	.	.	.	.	.	.	.	.	T	22.7	4.322655	0.81580	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	5.35	4.28	0.50868	.	0.060754	0.64402	D	0.000004	T	0.35913	0.0948	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.989	T	0.04961	-1.0915	10	0.25751	T	0.34	-10.2776	10.8399	0.46708	0.0:0.0746:0.0:0.9254	.	1500;1464	G3XAB8;Q9HCJ0	.;TNR6C_HUMAN	G	1464;1500;1500;1464;1464;1500	ENSP00000336783:V1500G;ENSP00000301624:V1464G;ENSP00000440310:V1464G;ENSP00000442421:V1500G	ENSP00000301624:V1464G	V	+	2	0	TNRC6C	73606103	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.108000	0.64609	0.868000	0.35678	0.533000	0.62120	GTG	TNRC6C	-	NULL	ENSG00000078687		0.587	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	118	0.84	1	T	NM_018996		76094508	76094508	+1	no_errors	ENST00000335749	ensembl	human	known	69_37n	missense	70	13.58	11	SNP	1.000	G
TOMM7	54543	genome.wustl.edu	37	7	22862394	22862394	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:22862394A>C	ENST00000358435.4	-	1	76	c.5T>G	c.(4-6)gTg>gGg	p.V2G	TOMM7_ENST00000463284.1_5'UTR|TOMM7_ENST00000372879.4_Missense_Mutation_p.V2G|TOMM7_ENST00000405021.3_5'Flank	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)	2					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			skin(1)	1						GCTCAGCTTCACCATGGCGAC	0.597																																						dbGAP											0													96.0	83.0	88.0					7																	22862394		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF150733	CCDS5376.1	7p15.3	2003-07-21			ENSG00000196683	ENSG00000196683			21648	protein-coding gene	gene with protein product		607980				10647823, 12198123	Standard	NM_019059		Approved		uc003svk.4	Q9P0U1	OTTHUMG00000094805	ENST00000358435.4:c.5T>G	7.37:g.22862394A>C	ENSP00000351214:p.Val2Gly		O95939	Missense_Mutation	SNP	pfam_Tom7	p.V2G	ENST00000358435.4	37	c.5	CCDS5376.1	7	.	.	.	.	.	.	.	.	.	.	A	15.87	2.959468	0.53400	.	.	ENSG00000196683	ENST00000358435;ENST00000372879	.	.	.	5.97	3.58	0.41010	.	0.324438	0.31673	N	0.007241	T	0.46698	0.1406	.	.	.	0.58432	D	0.999996	B	0.20052	0.041	B	0.19391	0.025	T	0.45264	-0.9273	8	0.59425	D	0.04	-16.0904	7.7108	0.28677	0.7666:0.0:0.2334:0.0	.	2	Q9P0U1	TOM7_HUMAN	G	2	.	ENSP00000351214:V2G	V	-	2	0	TOMM7	22828919	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	2.918000	0.48829	1.080000	0.41073	0.533000	0.62120	GTG	TOMM7	-	NULL	ENSG00000196683		0.597	TOMM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM7	HGNC	protein_coding	OTTHUMT00000211623.1	166	0.00	0	A	NM_019059		22862394	22862394	-1	no_errors	ENST00000358435	ensembl	human	known	69_37n	missense	94	21.49	26	SNP	1.000	C
TONSL	4796	genome.wustl.edu	37	8	145663906	145663906	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:145663906T>G	ENST00000409379.3	-	13	1630	c.1601A>C	c.(1600-1602)cAc>cCc	p.H534P	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	534					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GCAGGCTCGGTGCAGCAGGGT	0.697																																						dbGAP											0													50.0	51.0	51.0					8																	145663906		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1601A>C	8.37:g.145663906T>G	ENSP00000386239:p.His534Pro		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.H534P	ENST00000409379.3	37	c.1601	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	T	21.8	4.195514	0.78902	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.71698	-0.59	5.1	5.1	0.69264	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.89132	0.6628	H	0.97390	3.995	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.92275	0.5828	10	0.72032	D	0.01	-34.2522	12.8361	0.57773	0.0:0.0:0.0:1.0	.	534	Q96HA7	TONSL_HUMAN	P	534	ENSP00000386239:H534P	ENSP00000386239:H534P	H	-	2	0	TONSL	145634714	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.369000	0.79578	1.934000	0.56057	0.459000	0.35465	CAC	TONSL	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000160949		0.697	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	30	0.00	0	T	NM_013432		145663906	145663906	-1	no_errors	ENST00000409379	ensembl	human	known	69_37n	missense	29	21.05	8	SNP	1.000	G
TOX2	84969	genome.wustl.edu	37	20	42635272	42635272	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:42635272A>C	ENST00000358131.5	+	3	486	c.278A>C	c.(277-279)cAc>cCc	p.H93P	TOX2_ENST00000372999.1_Missense_Mutation_p.H42P|RN7SL443P_ENST00000464331.2_RNA|TOX2_ENST00000423191.2_Missense_Mutation_p.H42P|TOX2_ENST00000341197.4_Missense_Mutation_p.H84P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	93	Required for transcriptional activation. {ECO:0000250}.				female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCCCTCCTGCACCTGGGGGAC	0.597																																						dbGAP											0													147.0	113.0	124.0					20																	42635272		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.278A>C	20.37:g.42635272A>C	ENSP00000350849:p.His93Pro		A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.H84P	ENST00000358131.5	37	c.251	CCDS42875.1	20	.	.	.	.	.	.	.	.	.	.	A	19.15	3.770970	0.69992	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131	T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23	5.24	4.12	0.48240	.	0.093485	0.85682	D	0.000000	T	0.29389	0.0732	L	0.39147	1.195	0.80722	D	1	D;D;B;D	0.76494	0.999;0.996;0.057;0.998	D;P;B;D	0.83275	0.996;0.731;0.081;0.991	T	0.00986	-1.1490	10	0.34782	T	0.22	.	10.3386	0.43864	0.8526:0.0:0.0:0.1474	.	84;42;93;42	G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	P	84;42;42;42;93	ENSP00000344724:H84P;ENSP00000396584:H42P;ENSP00000390278:H42P;ENSP00000362090:H42P;ENSP00000350849:H93P	ENSP00000344724:H84P	H	+	2	0	TOX2	42068686	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.932000	0.92897	0.790000	0.33803	0.533000	0.62120	CAC	TOX2	-	NULL	ENSG00000124191		0.597	TOX2-001	KNOWN	basic|CCDS	protein_coding	TOX2	HGNC	protein_coding	OTTHUMT00000079329.2	199	0.50	1	A			42635272	42635272	+1	no_errors	ENST00000341197	ensembl	human	known	69_37n	missense	119	14.29	20	SNP	1.000	C
TP53I11	9537	genome.wustl.edu	37	11	44958227	44958227	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:44958227T>G	ENST00000533940.1	-	8	939				TP53I11_ENST00000531928.2_Silent_p.T116T|TP53I11_ENST00000525680.1_Intron|TP53I11_ENST00000395648.3_Intron|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000308212.5_Intron	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11						negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						GAGGCCGGGGTGTGGGCGCAG	0.657											OREG0020923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF010315	CCDS7911.1	11p11.2	2005-09-22				ENSG00000175274			16842	protein-coding gene	gene with protein product						9305847	Standard	NM_006034		Approved	PIG11	uc001myk.3	O14683		ENST00000533940.1:c.334+126A>C	11.37:g.44958227T>G		115	Q3ZCS0	RNA	SNP	-	NULL	ENST00000533940.1	37	NULL	CCDS7911.1	11																																																																																			TP53I11	-	-	ENSG00000175274		0.657	TP53I11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TP53I11	HGNC	protein_coding	OTTHUMT00000389909.1	11	0.00	0	T	NM_006034		44958227	44958227	-1	no_errors	ENST00000531130	ensembl	human	known	69_37n	rna	4	50.00	4	SNP	0.000	G
TP53I3	9540	genome.wustl.edu	37	2	24302509	24302509	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:24302509A>C	ENST00000238721.4	-	4	1475	c.621T>G	c.(619-621)ggT>ggG	p.G207G	FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000335934.4_Splice_Site_p.G207G|TP53I3_ENST00000407482.1_Intron|TP53I3_ENST00000313482.4_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	207					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAACTCCAGCACCTTCCATAG	0.433																																						dbGAP											0													78.0	76.0	77.0					2																	24302509		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.620-1T>G	2.37:g.24302509A>C			D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3	p.G207	ENST00000238721.4	37	c.621	CCDS1708.1	2																																																																																			TP53I3	-	pfam_ADH_C,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3	ENSG00000115129		0.433	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53I3	HGNC	protein_coding	OTTHUMT00000207618.2	110	0.00	0	A	NM_004881	Silent	24302509	24302509	-1	no_errors	ENST00000238721	ensembl	human	known	69_37n	silent	120	15.38	22	SNP	0.999	C
TP63	8626	genome.wustl.edu	37	3	189612207	189612207	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:189612207A>C	ENST00000264731.3	+	14	2048	c.1959A>C	c.(1957-1959)ccA>ccC	p.P653P	TP63_ENST00000456148.1_Silent_p.P555P|TP63_ENST00000440651.2_Silent_p.P649P|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000382063.4_Silent_p.P568P|TP63_ENST00000354600.5_Silent_p.P559P|TP63_ENST00000449992.1_Silent_p.P474P	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	653	Transactivation inhibition.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTCTTTCCCACCCCGAGATG	0.557										HNSCC(45;0.13)																												dbGAP											0													108.0	100.0	103.0					3																	189612207		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1959A>C	3.37:g.189612207A>C			O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.P653	ENST00000264731.3	37	c.1959	CCDS3293.1	3																																																																																			TP63	-	NULL	ENSG00000073282		0.557	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	128	0.00	0	A	NM_003722		189612207	189612207	+1	no_errors	ENST00000264731	ensembl	human	known	69_37n	silent	84	23.21	26	SNP	0.934	C
TPK1	27010	genome.wustl.edu	37	7	144245657	144245657	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:144245657A>C	ENST00000360057.3	-	8	642	c.540T>G	c.(538-540)ggT>ggG	p.G180G	TPK1_ENST00000378099.3_Silent_p.G131G|TPK1_ENST00000549981.1_Silent_p.G63G|TPK1_ENST00000538212.2_Silent_p.G126G|TPK1_ENST00000547966.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	180					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CACACCAATCACCCTCCATTC	0.448																																					Ovarian(45;88 1034 2073 5829 28455)	dbGAP											0													206.0	168.0	181.0					7																	144245657		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.540T>G	7.37:g.144245657A>C			A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Silent	SNP	pfam_TPK_catalytic,pfam_Thiamin_PyroPKinase_B1-bd,superfamily_TPK_catalytic,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase	p.G180	ENST00000360057.3	37	c.540	CCDS5888.1	7																																																																																			TPK1	-	pfam_Thiamin_PyroPKinase_B1-bd,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase	ENSG00000196511		0.448	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPK1	HGNC	protein_coding	OTTHUMT00000327777.1	216	0.00	0	A	NM_022445		144245657	144245657	-1	no_errors	ENST00000360057	ensembl	human	known	69_37n	silent	162	17.35	34	SNP	0.000	C
TPM2	7169	genome.wustl.edu	37	9	35689830	35689830	+	5'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:35689830T>G	ENST00000360958.2	-	0	89				TPM2_ENST00000329305.2_5'UTR|TPM2_ENST00000378292.3_5'UTR|TPM2_ENST00000378300.5_5'UTR	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)						muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGGTGGGGGGTGGGCCGGCCG	0.692																																						dbGAP											0													91.0	95.0	94.0					9																	35689830		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.-16A>C	9.37:g.35689830T>G			A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	RNA	SNP	-	NULL	ENST00000360958.2	37	NULL	CCDS6587.1	9																																																																																			TPM2	-	-	ENSG00000198467		0.692	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPM2	HGNC	protein_coding	OTTHUMT00000052376.1	73	0.00	0	T	NM_003289		35689830	35689830	-1	no_errors	ENST00000471212	ensembl	human	known	69_37n	rna	92	14.02	15	SNP	0.578	G
TPSAB1	7177	genome.wustl.edu	37	16	1291838	1291838	+	Silent	SNP	A	A	C	rs529997570	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:1291838A>C	ENST00000338844.3	+	5	543	c.510A>C	c.(508-510)ccA>ccC	p.P170P	TPSAB1_ENST00000461509.2_Silent_p.P177P	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	170	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		P -> S (in dbSNP:rs2234904). {ECO:0000269|PubMed:10898108, ECO:0000269|PubMed:19748655}.		defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				AGCGCCTCCCACCGCCATTTC	0.637																																						dbGAP											0													1.0	1.0	1.0					16																	1291838		887	2182	3069	-	-	-	SO:0001819	synonymous_variant	0			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.510A>C	16.37:g.1291838A>C			D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P170	ENST00000338844.3	37	c.510	CCDS10431.1	16																																																																																			TPSAB1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000172236		0.637	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	20	0.00	0	A	NM_003294		1291838	1291838	+1	no_errors	ENST00000562675	ensembl	human	known	69_37n	silent	7	46.15	6	SNP	0.021	C
TPSAB1	7177	genome.wustl.edu	37	16	1291906	1291906	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:1291906A>C	ENST00000338844.3	+	5	611	c.578A>C	c.(577-579)cAc>cCc	p.H193P	TPSAB1_ENST00000461509.2_Missense_Mutation_p.H200P	NM_003294.3	NP_003285.2	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1	193	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				defense response (GO:0006952)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GCAAAATACCACCTTGGCGCC	0.612																																						dbGAP											0													1.0	1.0	1.0					16																	1291906		876	2104	2980	-	-	-	SO:0001583	missense	0			M33494	CCDS10431.1	16p13.3	2009-11-13	2004-10-14	2004-10-15	ENSG00000172236	ENSG00000172236			12019	protein-coding gene	gene with protein product	"""tryptase alpha II"", ""tryptase beta I"", ""tryptase-I"", ""tryptase-II"", ""tryptase-III"""	191080	"""tryptase beta 1"""	TPSB1, TPS1, TPS2		2203827, 9920877	Standard	NM_003294		Approved		uc002ckz.3	Q15661	OTTHUMG00000090467	ENST00000338844.3:c.578A>C	16.37:g.1291906A>C	ENSP00000343577:p.His193Pro		D2E6R9|D2E6S1|P15157|Q15663|Q6B052|Q9H2Y4|Q9H2Y5|Q9UQI1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.H193P	ENST00000338844.3	37	c.578	CCDS10431.1	16	.	.	.	.	.	.	.	.	.	.	A	15.34	2.804806	0.50315	.	.	ENSG00000172236	ENST00000338844;ENST00000461509	T;T	0.80393	-1.37;-1.37	2.98	2.98	0.34508	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.49305	D	0.000146	T	0.73908	0.3647	N	0.02876	-0.465	0.35551	D	0.803908	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80843	-0.1201	10	0.72032	D	0.01	.	9.4066	0.38466	1.0:0.0:0.0:0.0	.	184;193	Q15661-2;Q15661	.;TRYB1_HUMAN	P	193;200	ENSP00000343577:H193P;ENSP00000418247:H200P	ENSP00000343577:H193P	H	+	2	0	TPSAB1	1231907	0.139000	0.22563	0.376000	0.26042	0.025000	0.11179	2.088000	0.41663	1.383000	0.46405	0.155000	0.16302	CAC	TPSAB1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000172236		0.612	TPSAB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TPSAB1	HGNC	protein_coding	OTTHUMT00000206914.1	12	0.00	0	A	NM_003294		1291906	1291906	+1	no_errors	ENST00000562675	ensembl	human	known	69_37n	missense	7	38.46	5	SNP	0.973	C
TRANK1	9881	genome.wustl.edu	37	3	36873102	36873102	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:36873102A>C	ENST00000429976.2	-	21	8087	c.7840T>G	c.(7840-7842)Tcc>Gcc	p.S2614A	TRANK1_ENST00000301807.6_Missense_Mutation_p.S2064A|TRANK1_ENST00000428977.2_Missense_Mutation_p.S2064A	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2614							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CGGACTATGGACCCTTTGGTG	0.547																																						dbGAP											0													54.0	58.0	57.0					3																	36873102		1997	4154	6151	-	-	-	SO:0001583	missense	0			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.7840T>G	3.37:g.36873102A>C	ENSP00000416168:p.Ser2614Ala		Q8N8K0	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.S2614A	ENST00000429976.2	37	c.7840	CCDS46789.2	3	.	.	.	.	.	.	.	.	.	.	A	1.918	-0.449032	0.04572	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.31247	1.5;1.92;1.5	4.72	-9.44	0.00603	.	1.817960	0.02636	N	0.104843	T	0.17959	0.0431	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.09952	-1.0651	10	0.32370	T	0.25	.	2.4496	0.04515	0.3105:0.0879:0.3697:0.2318	.	2614	O15050	TRNK1_HUMAN	A	2064;2614;2064	ENSP00000416826:S2064A;ENSP00000416168:S2614A;ENSP00000301807:S2064A	ENSP00000301807:S2064A	S	-	1	0	TRANK1	36848106	0.000000	0.05858	0.000000	0.03702	0.224000	0.24922	-3.036000	0.00635	-2.955000	0.00292	0.459000	0.35465	TCC	TRANK1	-	NULL	ENSG00000168016		0.547	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		101	0.00	0	A	NM_014831		36873102	36873102	-1	no_errors	ENST00000429976	ensembl	human	known	69_37n	missense	64	22.89	19	SNP	0.000	C
TRAPPC12	51112	genome.wustl.edu	37	2	3425739	3425739	+	Missense_Mutation	SNP	A	A	C	rs199781718		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:3425739A>C	ENST00000324266.5	+	4	1447	c.1252A>C	c.(1252-1254)Acc>Ccc	p.T418P	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.T418P	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	418					vesicle-mediated transport (GO:0016192)			p.T418P(2)									CGGGCTGCTCACCAGCCACAC	0.597																																						dbGAP											2	Substitution - Missense(2)	ovary(1)|central_nervous_system(1)											31.0	29.0	30.0					2																	3425739		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1252A>C	2.37:g.3425739A>C	ENSP00000324318:p.Thr418Pro		B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.T418P	ENST00000324266.5	37	c.1252	CCDS1652.1	2	.	.	.	.	.	.	.	.	.	.	A	15.73	2.918701	0.52546	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266	T;T	0.51071	0.72;0.72	4.72	4.72	0.59763	.	0.115270	0.64402	D	0.000020	T	0.44603	0.1301	L	0.56769	1.78	0.58432	D	0.999998	P;B	0.37663	0.604;0.43	B;B	0.38803	0.282;0.076	T	0.47923	-0.9079	10	0.54805	T	0.06	.	9.7173	0.40283	0.9157:0.0:0.0843:0.0	.	401;418	E7ENL7;Q8WVT3	.;TPC12_HUMAN	P	418;401;418	ENSP00000371544:T418P;ENSP00000324318:T418P	ENSP00000303612:T401P	T	+	1	0	TTC15	3404746	1.000000	0.71417	0.968000	0.41197	0.968000	0.65278	4.643000	0.61390	1.975000	0.57531	0.460000	0.39030	ACC	TRAPPC12	-	NULL	ENSG00000171853		0.597	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	HGNC	protein_coding	OTTHUMT00000206693.2	39	0.00	0	A	NM_016030		3425739	3425739	+1	no_errors	ENST00000324266	ensembl	human	known	69_37n	missense	16	40.74	11	SNP	0.950	C
TRAPPC4	51399	genome.wustl.edu	37	11	118895714	118895714	+	IGR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:118895714A>C	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000538950.1_Missense_Mutation_p.V326G|SLC37A4_ENST00000357590.5_Missense_Mutation_p.V421G|SLC37A4_ENST00000525102.1_5'UTR|TRAPPC4_ENST00000533058.1_Silent_p.P243P|SLC37A4_ENST00000545985.1_Missense_Mutation_p.V399G|SLC37A4_ENST00000330775.7_Missense_Mutation_p.V420G	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		CACTTCAGCCACCCAGAAGGC	0.577																																						dbGAP											0													53.0	58.0	56.0					11																	118895714		2015	4178	6193	-	-	-	SO:0001628	intergenic_variant	0			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118895714A>C			A8K3A5|B4DME1	Silent	SNP	pfam_Sybindin,pfam_Sedlin,superfamily_Longin-like_dom	p.P243	ENST00000533632.1	37	c.729	CCDS8407.1	11																																																																																			TRAPPC4	-	NULL	ENSG00000196655		0.577	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC4	HGNC	protein_coding	OTTHUMT00000389332.1	74	0.00	0	A	NM_016146		118895714	118895714	+1	no_errors	ENST00000533058	ensembl	human	putative	69_37n	silent	39	11.36	5	SNP	1.000	C
TRAPPC9	83696	genome.wustl.edu	37	8	141321387	141321387	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:141321387T>G	ENST00000438773.2	-	10	1715	c.1582A>C	c.(1582-1584)Acc>Ccc	p.T528P	TRAPPC9_ENST00000389328.4_Missense_Mutation_p.T626P|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.T519P	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	528					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGTGGCAGGGTGAGGCCGCCA	0.592																																						dbGAP											0													76.0	75.0	75.0					8																	141321387		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1582A>C	8.37:g.141321387T>G	ENSP00000405060:p.Thr528Pro		Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.T626P	ENST00000438773.2	37	c.1876	CCDS55278.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.20|12.20	1.866812|1.866812	0.32977|0.32977	.|.	.|.	ENSG00000167632|ENSG00000167632	ENST00000520857|ENST00000389328;ENST00000389327;ENST00000438773	.|.	.|.	.|.	5.66|5.66	1.97|1.97	0.26223|0.26223	.|.	.|0.307713	.|0.39083	.|N	.|0.001479	T|T	0.15435|0.15435	0.0372|0.0372	N|N	0.08118|0.08118	0|0	0.26687|0.26687	N|N	0.971429|0.971429	.|B;B;B	.|0.33073	.|0.257;0.135;0.396	.|B;B;B	.|0.31495	.|0.131;0.081;0.094	T|T	0.15867|0.15867	-1.0422|-1.0422	5|9	.|0.26408	.|T	.|0.33	.|.	6.8361|6.8361	0.23937|0.23937	0.0:0.1346:0.1276:0.7377|0.0:0.1346:0.1276:0.7377	.|.	.|528;519;626	.|Q96Q05;Q96Q05-3;Q96Q05-2	.|TPPC9_HUMAN;.;.	P|P	371|626;519;528	.|.	.|ENSP00000373978:T519P	H|T	-|-	2|1	0|0	TRAPPC9|TRAPPC9	141390569|141390569	1.000000|1.000000	0.71417|0.71417	0.172000|0.172000	0.22920|0.22920	0.373000|0.373000	0.29922|0.29922	4.102000|4.102000	0.57776|0.57776	0.160000|0.160000	0.19432|0.19432	0.528000|0.528000	0.53228|0.53228	CAC|ACC	TRAPPC9	-	NULL	ENSG00000167632		0.592	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	133	0.00	0	T	NM_031466		141321387	141321387	-1	no_errors	ENST00000389328	ensembl	human	known	69_37n	missense	93	23.77	29	SNP	0.846	G
TRBV20OR9-2	6962	genome.wustl.edu	37	9	33617821	33617821	+	RNA	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:33617821T>G	ENST00000379435.3	+	0	62									T cell receptor beta variable 20/OR9-2 (non-functional)																		CCAGAGAAGGTGGTGTGGGGC	0.582											OREG0019139	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-			0			L05149		9p21	2012-02-07	2008-09-11		ENSG00000205274	ENSG00000205274		"""T cell receptors / TRB orphons"""	12197	other	T cell receptor gene	"""T-cell receptor, beta variable region 2, orphon"""		"""T cell receptor beta variable 20/OR9-2"""	TCRBV2O		8384723	Standard	NG_001337		Approved	TRBV20/OR9-2, TCRBV20S2, TCRBV2S2O			OTTHUMG00000019781		9.37:g.33617821T>G		841		Silent	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.G12	ENST00000379435.3	37	c.36		9																																																																																			TRBV20OR9-2	-	NULL	ENSG00000205274		0.582	TRBV20OR9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV20OR9-2	HGNC	TR_V_gene	OTTHUMT00000052089.2	155	0.00	0	T	NG_001337		33617821	33617821	+1	no_stop_codon	ENST00000379435	ensembl	human	known	69_37n	silent	128	17.42	27	SNP	0.002	G
TRDN	10345	genome.wustl.edu	37	6	123786109	123786109	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:123786109T>G	ENST00000398178.3	-	10	894	c.873A>C	c.(871-873)ccA>ccC	p.P291P	RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000546248.1_Silent_p.P271P|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000334268.4_Silent_p.P291P|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000587049.1_RNA	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	291					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GTAAGGGAGGTGGAATGGCTG	0.393																																						dbGAP											0													93.0	100.0	98.0					6																	123786109		1972	4143	6115	-	-	-	SO:0001819	synonymous_variant	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.873A>C	6.37:g.123786109T>G			A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	pfam_Asp-B-hydro/Triadin_dom	p.P291	ENST00000398178.3	37	c.873	CCDS55053.1	6																																																																																			TRDN	-	NULL	ENSG00000186439		0.393	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		352	0.85	3	T			123786109	123786109	-1	no_errors	ENST00000398178	ensembl	human	known	69_37n	silent	374	10.93	46	SNP	0.999	G
TRIB2	28951	genome.wustl.edu	37	2	12863609	12863609	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:12863609A>C	ENST00000405331.3	+	2	564	c.494A>C	c.(493-495)cAc>cCc	p.H165P	TRIB2_ENST00000155926.4_Missense_Mutation_p.H165P|TRIB2_ENST00000381465.2_Missense_Mutation_p.H29P					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)					GCAGTGGCCCACTGCCATGAC	0.577																																						dbGAP											0													53.0	56.0	55.0					2																	12863609		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	ENST00000405331.3:c.494A>C	2.37:g.12863609A>C	ENSP00000384260:p.His165Pro			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.H165P	ENST00000405331.3	37	c.494		2	.	.	.	.	.	.	.	.	.	.	A	24.2	4.504196	0.85176	.	.	ENSG00000071575	ENST00000155926;ENST00000381465;ENST00000405331	T;T;T	0.67865	-0.29;-0.29;-0.29	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86806	0.6021	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90701	0.4620	10	0.87932	D	0	-22.1715	14.5191	0.67840	1.0:0.0:0.0:0.0	.	165	Q92519	TRIB2_HUMAN	P	165;29;165	ENSP00000155926:H165P;ENSP00000370874:H29P;ENSP00000384260:H165P	ENSP00000155926:H165P	H	+	2	0	TRIB2	12781060	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.339000	0.96797	2.027000	0.59764	0.482000	0.46254	CAC	TRIB2	-	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	ENSG00000071575		0.577	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	TRIB2	HGNC	protein_coding	OTTHUMT00000323585.1	59	0.00	0	A	NM_021643		12863609	12863609	+1	no_errors	ENST00000155926	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	1.000	C
TRIM50	135892	genome.wustl.edu	37	7	72738436	72738436	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:72738436T>G	ENST00000333149.2	-	2	550	c.350A>C	c.(349-351)cAc>cCc	p.H117P	TRIM50_ENST00000453152.1_Missense_Mutation_p.H117P|TRIM50_ENST00000493498.1_5'UTR	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	117						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GTGGTGTTGGTGGGAGCCCAG	0.677											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													48.0	54.0	52.0					7																	72738436		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.350A>C	7.37:g.72738436T>G	ENSP00000327994:p.His117Pro	1139	Q86XT3	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.H117P	ENST00000333149.2	37	c.350	CCDS34654.1	7	.	.	.	.	.	.	.	.	.	.	T	16.65	3.182151	0.57800	.	.	ENSG00000146755	ENST00000333149;ENST00000453152	D;D	0.95724	-3.79;-3.79	3.48	3.48	0.39840	Zinc finger, B-box (3);	0.000000	0.64402	D	0.000006	D	0.98005	0.9343	H	0.94222	3.51	0.51482	D	0.999925	D;D	0.76494	0.999;0.999	D;D	0.72338	0.961;0.977	D	0.98400	1.0567	10	0.87932	D	0	.	11.3162	0.49394	0.0:0.0:0.0:1.0	.	117;117	Q86XT4-2;Q86XT4	.;TRI50_HUMAN	P	117	ENSP00000327994:H117P;ENSP00000413875:H117P	ENSP00000327994:H117P	H	-	2	0	TRIM50	72376372	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.145000	0.77365	1.611000	0.50210	0.352000	0.21897	CAC	TRIM50	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000146755		0.677	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM50	HGNC	protein_coding	OTTHUMT00000345925.1	101	0.98	1	T	NM_178125		72738436	72738436	-1	no_errors	ENST00000333149	ensembl	human	known	69_37n	missense	40	25.45	14	SNP	1.000	G
TRIM55	84675	genome.wustl.edu	37	8	67066551	67066551	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:67066551A>C	ENST00000315962.4	+	9	1879	c.1506A>C	c.(1504-1506)gcA>gcC	p.A502A	TRIM55_ENST00000276573.7_Silent_p.A502A|TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	502					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AAACTAGTGCACCTGCAGCTA	0.552																																						dbGAP											0													96.0	88.0	91.0					8																	67066551		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1506A>C	8.37:g.67066551A>C			B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.A502	ENST00000315962.4	37	c.1506	CCDS6184.1	8																																																																																			TRIM55	-	NULL	ENSG00000147573		0.552	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1	120	0.83	1	A	NM_184085		67066551	67066551	+1	no_errors	ENST00000315962	ensembl	human	known	69_37n	silent	103	16.94	21	SNP	0.998	C
TRIM74	378108	genome.wustl.edu	37	7	72436310	72436310	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:72436310T>G	ENST00000285805.3	-	2	578	c.379A>C	c.(379-381)Acc>Ccc	p.T127P	TRIM74_ENST00000395244.1_Missense_Mutation_p.T127P	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74	127						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			prostate(1)	1						CTGCAGACGGTGGAGACGGGC	0.677																																						dbGAP											0													3.0	3.0	3.0					7																	72436310		902	2134	3036	-	-	-	SO:0001583	missense	0			AF498999	CCDS5545.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000155428	ENSG00000155428		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	17453	protein-coding gene	gene with protein product		612550	"""tripartite motif-containing 50C"", ""tripartite motif-containing 74"""	TRIM50C			Standard	NM_198853		Approved	MGC45440		Q86UV6	OTTHUMG00000129851	ENST00000285805.3:c.379A>C	7.37:g.72436310T>G	ENSP00000285805:p.Thr127Pro		B7WP46	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.T127P	ENST00000285805.3	37	c.379	CCDS5545.1	7	.	.	.	.	.	.	.	.	.	.	T	9.535	1.111967	0.20795	.	.	ENSG00000155428	ENST00000395244;ENST00000285805	T;T	0.57107	0.42;0.42	2.26	2.26	0.28386	.	0.096499	0.44097	D	0.000488	T	0.28499	0.0705	N	0.08118	0	0.26887	N	0.967407	P	0.46220	0.874	B	0.38616	0.277	T	0.23976	-1.0173	10	0.87932	D	0	.	9.6032	0.39617	0.0:0.0:0.0:1.0	.	127	Q86UV6-2	.	P	127	ENSP00000378665:T127P;ENSP00000285805:T127P	ENSP00000285805:T127P	T	-	1	0	TRIM74	72074246	1.000000	0.71417	0.989000	0.46669	0.227000	0.25037	1.258000	0.32944	1.304000	0.44892	0.155000	0.16302	ACC	TRIM74	-	NULL	ENSG00000155428		0.677	TRIM74-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM74	HGNC	protein_coding	OTTHUMT00000252093.1	33	0.00	0	T	NM_198853		72436310	72436310	-1	no_errors	ENST00000285805	ensembl	human	known	69_37n	missense	13	31.58	6	SNP	1.000	G
TRIOBP	11078	genome.wustl.edu	37	22	38119536	38119536	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:38119536A>C	ENST00000406386.3	+	7	1228	c.973A>C	c.(973-975)Acc>Ccc	p.T325P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	325					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGCCTCATCCACCCAAGAGGA	0.597																																						dbGAP											0													142.0	161.0	155.0					22																	38119536		1934	4128	6062	-	-	-	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.973A>C	22.37:g.38119536A>C	ENSP00000384312:p.Thr325Pro		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T325P	ENST00000406386.3	37	c.973	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	a	8.422	0.846621	0.16963	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.44083	0.93	1.82	-2.91	0.05631	.	.	.	.	.	T	0.17874	0.0429	N	0.17082	0.46	0.09310	N	0.999999	P	0.37233	0.588	B	0.34779	0.189	T	0.11767	-1.0574	9	0.28530	T	0.3	.	0.1229	0.00066	0.3439:0.2416:0.1759:0.2385	.	325	Q9H2D6	TARA_HUMAN	P	325	ENSP00000384312:T325P	ENSP00000384312:T325P	T	+	1	0	TRIOBP	36449482	0.000000	0.05858	0.002000	0.10522	0.096000	0.18686	-1.576000	0.02129	-0.800000	0.04433	0.329000	0.21502	ACC	TRIOBP	-	NULL	ENSG00000100106		0.597	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	218	0.90	2	A			38119536	38119536	+1	no_errors	ENST00000406386	ensembl	human	known	69_37n	missense	179	14.95	32	SNP	0.004	C
TRIOBP	11078	genome.wustl.edu	37	22	38119548	38119548	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:38119548A>C	ENST00000406386.3	+	7	1240	c.985A>C	c.(985-987)Acc>Ccc	p.T329P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	329					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCAAGAGGACACCCCCAGGGC	0.592																																						dbGAP											0													140.0	159.0	153.0					22																	38119548		1922	4123	6045	-	-	-	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.985A>C	22.37:g.38119548A>C	ENSP00000384312:p.Thr329Pro		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T329P	ENST00000406386.3	37	c.985	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	-	10.03	1.238345	0.22711	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.24151	1.87	4.12	1.95	0.26073	.	.	.	.	.	T	0.14356	0.0347	N	0.19112	0.55	0.09310	N	0.999999	B	0.26975	0.165	B	0.25884	0.064	T	0.27331	-1.0077	9	0.28530	T	0.3	.	6.4442	0.21867	0.7803:0.0:0.2197:0.0	.	329	Q9H2D6	TARA_HUMAN	P	329	ENSP00000384312:T329P	ENSP00000384312:T329P	T	+	1	0	TRIOBP	36449494	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.077000	0.11394	0.465000	0.27167	0.329000	0.21502	ACC	TRIOBP	-	NULL	ENSG00000100106		0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	215	0.46	1	A			38119548	38119548	+1	no_errors	ENST00000406386	ensembl	human	known	69_37n	missense	168	15.08	30	SNP	0.000	C
TRIOBP	11078	genome.wustl.edu	37	22	38119578	38119578	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:38119578A>C	ENST00000406386.3	+	7	1270	c.1015A>C	c.(1015-1017)Acc>Ccc	p.T339P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	339					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACAGTGGAACACCCCCAGAGC	0.572																																						dbGAP											0													137.0	152.0	147.0					22																	38119578		1910	4117	6027	-	-	-	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1015A>C	22.37:g.38119578A>C	ENSP00000384312:p.Thr339Pro		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.T339P	ENST00000406386.3	37	c.1015	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	-	10.60	1.395471	0.25205	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.24350	1.86	4.37	3.3	0.37823	.	.	.	.	.	T	0.14356	0.0347	N	0.08118	0	0.21897	N	0.999488	P	0.42039	0.769	B	0.41299	0.353	T	0.09058	-1.0692	9	0.40728	T	0.16	.	9.0977	0.36649	0.8145:0.1855:0.0:0.0	.	339	Q9H2D6	TARA_HUMAN	P	339	ENSP00000384312:T339P	ENSP00000384312:T339P	T	+	1	0	TRIOBP	36449524	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.505000	0.22642	0.519000	0.28406	0.374000	0.22700	ACC	TRIOBP	-	NULL	ENSG00000100106		0.572	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	205	0.97	2	A			38119578	38119578	+1	no_errors	ENST00000406386	ensembl	human	known	69_37n	missense	153	11.56	20	SNP	0.005	C
TRIOBP	11078	genome.wustl.edu	37	22	38121721	38121721	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:38121721A>C	ENST00000406386.3	+	7	3413	c.3158A>C	c.(3157-3159)cAc>cCc	p.H1053P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1053					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACCGCCCCACCACGAGCCT	0.672																																						dbGAP											0													58.0	68.0	65.0					22																	38121721		1895	4094	5989	-	-	-	SO:0001583	missense	0			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.3158A>C	22.37:g.38121721A>C	ENSP00000384312:p.His1053Pro		B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.H1053P	ENST00000406386.3	37	c.3158	CCDS43015.1	22	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644492	0.29246	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.26067	1.76	4.85	3.81	0.43845	.	.	.	.	.	T	0.20455	0.0492	L	0.29908	0.895	0.80722	D	1	P	0.36733	0.567	B	0.40534	0.332	T	0.03784	-1.1004	9	0.87932	D	0	.	7.2304	0.26038	0.9003:0.0:0.0997:0.0	.	1053	Q9H2D6	TARA_HUMAN	P	1053	ENSP00000384312:H1053P	ENSP00000384312:H1053P	H	+	2	0	TRIOBP	36451667	1.000000	0.71417	0.783000	0.31826	0.051000	0.14879	2.293000	0.43558	0.881000	0.35993	0.369000	0.22263	CAC	TRIOBP	-	NULL	ENSG00000100106		0.672	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIOBP	HGNC	protein_coding	OTTHUMT00000319439.2	76	0.00	0	A			38121721	38121721	+1	no_errors	ENST00000406386	ensembl	human	known	69_37n	missense	77	17.71	17	SNP	0.962	C
TRMT112	51504	genome.wustl.edu	37	11	64084603	64084603	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:64084603A>C	ENST00000544844.1	-	3	754	c.197T>G	c.(196-198)gTg>gGg	p.V66G	TRMT112_ENST00000535750.1_Missense_Mutation_p.V22G|TRMT112_ENST00000539854.1_Missense_Mutation_p.V66G|PRDX5_ENST00000347941.4_5'Flank|PRDX5_ENST00000265462.4_5'Flank|TRMT112_ENST00000308774.2_Splice_Site_p.V61G|PRDX5_ENST00000352435.4_5'Flank|TRMT112_ENST00000535126.1_3'UTR			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	66	TRM112.				peptidyl-glutamine methylation (GO:0018364)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protein methyltransferase activity (GO:0008276)			large_intestine(1)|upper_aerodigestive_tract(1)	2						CCCTTTCGGCACCTGGATCAG	0.612																																						dbGAP											0													54.0	52.0	53.0					11																	64084603		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF110774	CCDS8068.1, CCDS66113.1, CCDS73312.1	11q13.1	2013-07-23			ENSG00000173113	ENSG00000173113			26940	protein-coding gene	gene with protein product						11042152	Standard	NM_001286082		Approved	HSPC152, HSPC170, TRM112, TRMT11-2	uc001nzt.3	Q9UI30	OTTHUMG00000167848	ENST00000544844.1:c.197T>G	11.37:g.64084603A>C	ENSP00000438349:p.Val66Gly		B2R539|J3KNG5|Q3MHC7|Q8N2Z4	Missense_Mutation	SNP	pfam_UPF0434/Trm112	p.V66G	ENST00000544844.1	37	c.197	CCDS8068.1	11	.	.	.	.	.	.	.	.	.	.	A	25.2	4.612521	0.87258	.	.	ENSG00000173113	ENST00000535750;ENST00000544844;ENST00000308774;ENST00000539854	.	.	.	4.46	4.46	0.54185	.	0.170684	0.39407	N	0.001372	T	0.70413	0.3221	M	0.67953	2.075	0.58432	D	0.999999	D	0.64830	0.994	D	0.63597	0.916	T	0.74237	-0.3730	9	0.87932	D	0	.	12.0292	0.53388	1.0:0.0:0.0:0.0	.	66	Q9UI30	TR112_HUMAN	G	22;66;61;66	.	ENSP00000309433:V61G	V	-	2	0	TRMT112	63841179	0.994000	0.37717	0.486000	0.27416	0.348000	0.29142	4.719000	0.61937	2.009000	0.58944	0.533000	0.62120	GTG	TRMT112	-	pfam_UPF0434/Trm112	ENSG00000173113		0.612	TRMT112-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT112	HGNC	protein_coding	OTTHUMT00000396598.2	117	0.00	0	A	NM_016404		64084603	64084603	-1	no_errors	ENST00000544844	ensembl	human	known	69_37n	missense	101	16.39	20	SNP	1.000	C
TRPM3	80036	genome.wustl.edu	37	9	73151469	73151469	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:73151469T>G	ENST00000377110.3	-	25	4767	c.4524A>C	c.(4522-4524)acA>acC	p.T1508T	TRPM3_ENST00000396285.1_Silent_p.T1367T|TRPM3_ENST00000358082.3_Silent_p.T1370T|TRPM3_ENST00000360823.2_Silent_p.T1370T|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377105.1_Silent_p.T1367T|TRPM3_ENST00000377106.1_Silent_p.T1380T|TRPM3_ENST00000408909.2_Silent_p.T1367T|TRPM3_ENST00000423814.3_Silent_p.T1535T|TRPM3_ENST00000396292.4_Silent_p.T1380T|TRPM3_ENST00000396280.5_Silent_p.T1357T|TRPM3_ENST00000357533.2_Silent_p.T1512T			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1533					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAAGAAAGGGTGTGGTGGCTA	0.498																																						dbGAP											0													95.0	106.0	103.0					9																	73151469		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4524A>C	9.37:g.73151469T>G			A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.T1357P	ENST00000377110.3	37	c.4069	CCDS43835.1	9	.	.	.	.	.	.	.	.	.	.	T	2.379	-0.342511	0.05243	.	.	ENSG00000083067	ENST00000396280	T	0.55930	0.49	5.9	-11.8	0.00035	.	0.502800	0.23167	N	0.051170	T	0.43122	0.1233	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.68311	-0.5442	7	0.37606	T	0.19	-2.302	7.4981	0.27500	0.0857:0.5576:0.1855:0.1713	.	.	.	.	P	1357	ENSP00000379576:T1357P	ENSP00000379576:T1357P	T	-	1	0	TRPM3	72341289	0.000000	0.05858	0.028000	0.17463	0.990000	0.78478	-2.538000	0.00938	-2.988000	0.00280	-0.408000	0.06270	ACC	TRPM3	-	NULL	ENSG00000083067		0.498	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214158.3	372	0.27	1	T	NM_206945		73151469	73151469	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000396280	ensembl	human	known	69_37n	missense	334	11.11	42	SNP	0.003	G
TRPM8	79054	genome.wustl.edu	37	2	234863874	234863874	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:234863874A>C	ENST00000324695.4	+	11	1382	c.1342A>C	c.(1342-1344)Acc>Ccc	p.T448P	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_Missense_Mutation_p.T136P	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	448					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGAGATTTTCACCAATGACCG	0.512																																						dbGAP											0													95.0	89.0	91.0					2																	234863874		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1342A>C	2.37:g.234863874A>C	ENSP00000323926:p.Thr448Pro		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.T448P	ENST00000324695.4	37	c.1342	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	A	27.6	4.842253	0.91197	.	.	ENSG00000144481	ENST00000324695;ENST00000433712	T;T	0.36340	1.26;1.26	5.99	5.99	0.97316	.	0.072441	0.64402	D	0.000020	T	0.60945	0.2308	M	0.73962	2.25	0.53688	D	0.999979	D;D	0.71674	0.998;0.993	D;P	0.76071	0.987;0.796	T	0.63892	-0.6534	10	0.62326	D	0.03	-38.2747	15.3183	0.74099	1.0:0.0:0.0:0.0	.	136;448	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	P	448;136	ENSP00000323926:T448P;ENSP00000404423:T136P	ENSP00000323926:T448P	T	+	1	0	TRPM8	234528613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.526000	0.67116	2.291000	0.77112	0.533000	0.62120	ACC	TRPM8	-	NULL	ENSG00000144481		0.512	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	89	0.00	0	A	NM_024080		234863874	234863874	+1	no_errors	ENST00000324695	ensembl	human	known	69_37n	missense	41	30.51	18	SNP	1.000	C
TRPM8	79054	genome.wustl.edu	37	2	234875330	234875330	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:234875330T>G	ENST00000324695.4	+	15	1996	c.1956T>G	c.(1954-1956)ggT>ggG	p.G652G	TRPM8_ENST00000433712.2_Silent_p.G340G	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	652					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AAGCTTGGGGTGGAAGCAACT	0.562																																						dbGAP											0													106.0	92.0	97.0					2																	234875330		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.1956T>G	2.37:g.234875330T>G			A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	pfam_Ion_trans_dom	p.G652	ENST00000324695.4	37	c.1956	CCDS33407.1	2																																																																																			TRPM8	-	NULL	ENSG00000144481		0.562	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	203	0.00	0	T	NM_024080		234875330	234875330	+1	no_errors	ENST00000324695	ensembl	human	known	69_37n	silent	139	13.04	21	SNP	0.264	G
TRPV3	162514	genome.wustl.edu	37	17	3421962	3421962	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:3421962T>G	ENST00000576742.1	-	15	2314	c.1993A>C	c.(1993-1995)Acc>Ccc	p.T665P	TRPV3_ENST00000572519.1_Missense_Mutation_p.T665P|TRPV3_ENST00000301365.4_Missense_Mutation_p.T665P	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	665					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AGAACAAAGGTGAGGATGACA	0.527																																						dbGAP											0													153.0	113.0	126.0					17																	3421962		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.1993A>C	17.37:g.3421962T>G	ENSP00000461518:p.Thr665Pro		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel	p.T665P	ENST00000576742.1	37	c.1993	CCDS11029.1	17	.	.	.	.	.	.	.	.	.	.	t	23.0	4.364498	0.82463	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	D	0.85013	-1.93	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.92179	0.7520	M	0.78916	2.43	0.58432	D	0.999998	B;D;D;D;D;D;D	0.89917	0.09;0.996;1.0;0.996;1.0;1.0;1.0	B;D;D;D;D;D;D	0.91635	0.038;0.987;0.999;0.987;0.998;0.999;0.998	D	0.93053	0.6467	10	0.87932	D	0	-18.8591	15.4346	0.75137	0.0:0.0:0.0:1.0	.	649;649;665;649;665;665;665	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	P	665;665;649	ENSP00000301365:T665P	ENSP00000301365:T665P	T	-	1	0	TRPV3	3368712	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	5.909000	0.69923	2.307000	0.77673	0.529000	0.55759	ACC	TRPV3	-	NULL	ENSG00000167723		0.527	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TRPV3	HGNC	protein_coding	OTTHUMT00000207379.2	194	0.51	1	T	NM_145068		3421962	3421962	-1	no_errors	ENST00000301365	ensembl	human	known	69_37n	missense	151	11.49	20	SNP	1.000	G
TRPV6	55503	genome.wustl.edu	37	7	142574210	142574210	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:142574210T>G	ENST00000359396.3	-	6	958	c.713A>C	c.(712-714)cAc>cCc	p.H238P	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	238					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAGACCCTGGTGATTGGGCAC	0.567																																						dbGAP											0													129.0	114.0	119.0					7																	142574210		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.713A>C	7.37:g.142574210T>G	ENSP00000352358:p.His238Pro		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6_channel,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel	p.H238P	ENST00000359396.3	37	c.713	CCDS5874.1	7	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401748	0.62288	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.52754	0.65	4.87	0.961	0.19638	Ankyrin repeat-containing domain (3);	0.405503	0.29362	N	0.012377	T	0.38134	0.1029	N	0.21448	0.665	0.31684	N	0.642808	P	0.40230	0.708	P	0.50162	0.633	T	0.41215	-0.9521	10	0.37606	T	0.19	-8.7846	5.2835	0.15688	0.2728:0.0764:0.0:0.6508	.	238	Q9H1D0	TRPV6_HUMAN	P	238;70	ENSP00000352358:H238P	ENSP00000310825:H70P	H	-	2	0	TRPV6	142284332	1.000000	0.71417	0.580000	0.28601	0.799000	0.45148	1.006000	0.29847	-0.070000	0.12908	0.533000	0.62120	CAC	TRPV6	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel	ENSG00000165125		0.567	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	209	0.47	1	T	NM_014274		142574210	142574210	-1	no_errors	ENST00000359396	ensembl	human	known	69_37n	missense	238	11.81	32	SNP	0.985	G
TSC2	7249	genome.wustl.edu	37	16	2127644	2127644	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:2127644A>C	ENST00000219476.3	+	26	3513	c.2883A>C	c.(2881-2883)ccA>ccC	p.P961P	TSC2_ENST00000353929.4_Intron|TSC2_ENST00000439673.2_Intron|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000401874.2_Intron|TSC2_ENST00000350773.4_Silent_p.P961P|TSC2_ENST00000568454.1_Intron|TSC2_ENST00000568366.1_3'UTR	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	961					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|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)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ATAACTCTCCACCCGTGAAAG	0.607			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													dbGAP	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													80.0	83.0	82.0					16																	2127644		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.2883A>C	16.37:g.2127644A>C			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,prints_Tuberin,pfscan_Rap_GAP	p.P961	ENST00000219476.3	37	c.2883	CCDS10458.1	16																																																																																			TSC2	-	NULL	ENSG00000103197		0.607	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	104	0.95	1	A	NM_000548		2127644	2127644	+1	no_errors	ENST00000219476	ensembl	human	known	69_37n	silent	97	17.09	20	SNP	0.998	C
TSC22D1	8848	genome.wustl.edu	37	13	45149603	45149603	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:45149603T>G	ENST00000458659.2	-	1	1098	c.608A>C	c.(607-609)cAc>cCc	p.H203P	TSC22D1_ENST00000501704.2_Missense_Mutation_p.H203P|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	203	His-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TTGTGGAAGGTGAGGCAAATG	0.537																																						dbGAP											0													94.0	76.0	82.0					13																	45149603		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.608A>C	13.37:g.45149603T>G	ENSP00000397435:p.His203Pro		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.H203P	ENST00000458659.2	37	c.608	CCDS31966.1	13	.	.	.	.	.	.	.	.	.	.	T	10.59	1.393551	0.25205	.	.	ENSG00000102804	ENST00000458659;ENST00000501704	T;T	0.25414	1.8;1.8	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000015	T	0.22551	0.0544	N	0.24115	0.695	0.29116	N	0.88054	P;P	0.52316	0.952;0.92	P;B	0.47470	0.548;0.346	T	0.04373	-1.0956	10	0.38643	T	0.18	.	12.8746	0.57984	0.0:0.0:0.0:1.0	.	203;203	B3KRL7;Q15714	.;T22D1_HUMAN	P	203	ENSP00000397435:H203P;ENSP00000437414:H203P	ENSP00000397435:H203P	H	-	2	0	TSC22D1	44047603	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.804000	0.47931	1.909000	0.55274	0.459000	0.35465	CAC	TSC22D1	-	NULL	ENSG00000102804		0.537	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	TSC22D1	HGNC	protein_coding	OTTHUMT00000044743.2	195	0.51	1	T	NM_006022		45149603	45149603	-1	no_errors	ENST00000458659	ensembl	human	known	69_37n	missense	88	14.42	15	SNP	1.000	G
TSHZ3	57616	genome.wustl.edu	37	19	31769510	31769510	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:31769510T>G	ENST00000240587.4	-	2	1516	c.1189A>C	c.(1189-1191)Acc>Ccc	p.T397P		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	397					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCCTGCAGGGTGTCATGCGAG	0.562																																						dbGAP											0													162.0	151.0	155.0					19																	31769510		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1189A>C	19.37:g.31769510T>G	ENSP00000240587:p.Thr397Pro		Q9H0G6|Q9P254	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.T397P	ENST00000240587.4	37	c.1189	CCDS12421.2	19	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935726	0.52972	.	.	ENSG00000121297	ENST00000240587	T	0.29917	1.55	5.73	4.7	0.59300	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	N	0.24115	0.695	0.80722	D	1	D	0.53462	0.96	P	0.54815	0.761	T	0.11842	-1.0571	10	0.87932	D	0	-24.6348	12.1419	0.54002	0.1286:0.0:0.0:0.8714	.	397	Q63HK5	TSH3_HUMAN	P	397	ENSP00000240587:T397P	ENSP00000240587:T397P	T	-	1	0	TSHZ3	36461350	1.000000	0.71417	0.151000	0.22473	0.880000	0.50808	4.775000	0.62346	0.964000	0.38108	0.533000	0.62120	ACC	TSHZ3	-	smart_Znf_C2H2-like	ENSG00000121297		0.562	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	145	0.00	0	T	NM_020856		31769510	31769510	-1	no_errors	ENST00000240587	ensembl	human	known	69_37n	missense	124	16.22	24	SNP	1.000	G
TSPAN32	10077	genome.wustl.edu	37	11	2339182	2339182	+	3'UTR	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:2339182A>C	ENST00000182290.4	+	0	1128				TSPAN32_ENST00000451520.2_3'UTR|TSPAN32_ENST00000381121.3_3'UTR	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32						cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ctgcactctcacctggaggct	0.612																																						dbGAP											0													46.0	48.0	47.0					11																	2339182		2202	4299	6501	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.*28A>C	11.37:g.2339182A>C			Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	RNA	SNP	-	NULL	ENST00000182290.4	37	NULL	CCDS7733.1	11																																																																																			TSPAN32	-	-	ENSG00000064201		0.612	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSPAN32	HGNC	protein_coding	OTTHUMT00000026912.2	130	0.00	0	A	NM_139024		2339182	2339182	+1	no_errors	ENST00000486011	ensembl	human	putative	69_37n	rna	49	20.31	13	SNP	0.000	C
TSPAN6	7105	genome.wustl.edu	37	X	99890605	99890605	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:99890605T>G	ENST00000373020.4	-	2	337	c.226A>C	c.(226-228)Acc>Ccc	p.T76P	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	76					negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039532)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						CAACCAAAGGTGCCCAAAAGA	0.418																																						dbGAP											0													54.0	44.0	47.0					X																	99890605		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF043906	CCDS14470.1, CCDS76001.1	Xq22	2013-02-14	2005-03-21	2005-03-21	ENSG00000000003	ENSG00000000003		"""Tetraspanins"""	11858	protein-coding gene	gene with protein product		300191	"""transmembrane 4 superfamily member 6"""	TM4SF6		9782095	Standard	NM_003270		Approved	T245, TSPAN-6	uc004ega.1	O43657	OTTHUMG00000022002	ENST00000373020.4:c.226A>C	X.37:g.99890605T>G	ENSP00000362111:p.Thr76Pro		Q54A42|Q6IAN9	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.T76P	ENST00000373020.4	37	c.226	CCDS14470.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.4|21.4	4.136308|4.136308	0.77662|0.77662	.|.	.|.	ENSG00000000003|ENSG00000000003	ENST00000431386|ENST00000373020	.|T	.|0.79247	.|-1.25	5.59|5.59	3.05|3.05	0.35203|0.35203	.|Tetraspanin, conserved site (1);	.|0.230226	.|0.45126	.|D	.|0.000387	.|T	.|0.80116	.|0.4564	L|L	0.53249|0.53249	1.67|1.67	0.43191|0.43191	D|D	0.995023|0.995023	.|D	.|0.61697	.|0.99	.|P	.|0.60236	.|0.871	.|T	.|0.76841	.|-0.2810	.|9	.|.	.|.	.|.	.|.	7.5344|7.5344	0.27702|0.27702	0.1413:0.0:0.1444:0.7143|0.1413:0.0:0.1444:0.7143	.|.	.|76	.|O43657	.|TSN6_HUMAN	.|P	-1|76	.|ENSP00000362111:T76P	.|.	.|T	-|-	.|1	.|0	TSPAN6|TSPAN6	99777261|99777261	0.954000|0.954000	0.32549|0.32549	0.998000|0.998000	0.56505|0.56505	0.959000|0.959000	0.62525|0.62525	0.920000|0.920000	0.28705|0.28705	0.745000|0.745000	0.32763|0.32763	0.430000|0.430000	0.28490|0.28490	.|ACC	TSPAN6	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000000003		0.418	TSPAN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN6	HGNC	protein_coding	OTTHUMT00000057483.1	102	0.95	1	T			99890605	99890605	-1	no_errors	ENST00000373020	ensembl	human	known	69_37n	missense	57	19.72	14	SNP	0.997	G
TSPAN9	10867	genome.wustl.edu	37	12	3387650	3387650	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:3387650A>C	ENST00000011898.5	+	4	288	c.127A>C	c.(127-129)Acc>Ccc	p.T43P	TSPAN9_ENST00000492305.1_3'UTR|TSPAN9_ENST00000407263.1_Missense_Mutation_p.T43P|TSPAN9_ENST00000537971.1_Missense_Mutation_p.T43P	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	43						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CAACTTTGCCACCTTCTCCCC	0.607																																						dbGAP											0													216.0	184.0	195.0					12																	3387650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF089749	CCDS8520.1	12p13.33-p13.32	2013-02-14			ENSG00000011105	ENSG00000011105		"""Tetraspanins"""	21640	protein-coding gene	gene with protein product		613137				10719184, 11739647	Standard	NM_006675		Approved	NET-5	uc021qtd.1	O75954	OTTHUMG00000150333	ENST00000011898.5:c.127A>C	12.37:g.3387650A>C	ENSP00000011898:p.Thr43Pro		D3DUQ7|Q53FV2|Q6FGJ8	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.T43P	ENST00000011898.5	37	c.127	CCDS8520.1	12	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229731	0.79688	.	.	ENSG00000011105	ENST00000537971;ENST00000011898;ENST00000407263	T;T;T	0.79454	-1.27;-1.27;-1.27	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.88651	0.6494	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89384	0.3684	10	0.46703	T	0.11	.	13.1184	0.59313	1.0:0.0:0.0:0.0	.	43	O75954	TSN9_HUMAN	P	43	ENSP00000444799:T43P;ENSP00000011898:T43P;ENSP00000384488:T43P	ENSP00000011898:T43P	T	+	1	0	TSPAN9	3257911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.275000	0.72594	1.988000	0.58038	0.459000	0.35465	ACC	TSPAN9	-	pfam_Tetraspanin/Peripherin	ENSG00000011105		0.607	TSPAN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN9	HGNC	protein_coding	OTTHUMT00000317606.2	201	0.00	0	A	NM_006675		3387650	3387650	+1	no_errors	ENST00000011898	ensembl	human	known	69_37n	missense	168	13.85	27	SNP	1.000	C
TSTA3	7264	genome.wustl.edu	37	8	144696577	144696577	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:144696577T>G	ENST00000425753.2	-	6	614	c.511A>C	c.(511-513)Acc>Ccc	p.T171P	TSTA3_ENST00000529064.1_Missense_Mutation_p.T171P	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	171					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AAGACGTTGGTGGGGATGACA	0.652																																						dbGAP											0													138.0	124.0	129.0					8																	144696577		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.511A>C	8.37:g.144696577T>G	ENSP00000398803:p.Thr171Pro		B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct	p.T171P	ENST00000425753.2	37	c.511	CCDS6408.1	8	.	.	.	.	.	.	.	.	.	.	T	21.3	4.131539	0.77662	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817	D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28	4.85	4.85	0.62838	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95947	0.8680	H	0.96208	3.785	0.80722	D	1	P	0.40909	0.732	B	0.43728	0.429	D	0.96715	0.9528	10	0.87932	D	0	-41.5393	13.2624	0.60113	0.0:0.0:0.0:1.0	.	171	Q13630	FCL_HUMAN	P	171	ENSP00000435386:T171P;ENSP00000398803:T171P;ENSP00000431587:T171P;ENSP00000437012:T171P	ENSP00000398803:T171P	T	-	1	0	TSTA3	144767720	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.199000	0.72112	1.816000	0.52996	0.482000	0.46254	ACC	TSTA3	-	pfam_Epimerase_deHydtase	ENSG00000104522		0.652	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTA3	HGNC	protein_coding	OTTHUMT00000382263.1	138	0.71	1	T	NM_003313		144696577	144696577	-1	no_errors	ENST00000425753	ensembl	human	known	69_37n	missense	106	12.40	15	SNP	1.000	G
TSTA3	7264	genome.wustl.edu	37	8	144697004	144697004	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:144697004T>G	ENST00000425753.2	-	4	446	c.343A>C	c.(343-345)Acc>Ccc	p.T115P	TSTA3_ENST00000529064.1_Missense_Mutation_p.T115P	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	115					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AAGATACAGGTGGACAGGCAG	0.652																																						dbGAP											0													108.0	91.0	97.0					8																	144697004		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.343A>C	8.37:g.144697004T>G	ENSP00000398803:p.Thr115Pro		B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Missense_Mutation	SNP	pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct	p.T115P	ENST00000425753.2	37	c.343	CCDS6408.1	8	.	.	.	.	.	.	.	.	.	.	T	26.6	4.748982	0.89753	.	.	ENSG00000104522	ENST00000529064;ENST00000425753;ENST00000529048;ENST00000533817;ENST00000526290	D;D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3;-3.3	4.85	4.85	0.62838	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.099651	0.64402	D	0.000002	D	0.97548	0.9197	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.98501	1.0614	10	0.87932	D	0	-39.4438	13.2707	0.60159	0.0:0.0:0.0:1.0	.	115;115	B4DZW9;Q13630	.;FCL_HUMAN	P	115	ENSP00000435386:T115P;ENSP00000398803:T115P;ENSP00000431587:T115P;ENSP00000437012:T115P;ENSP00000433331:T115P	ENSP00000398803:T115P	T	-	1	0	TSTA3	144768147	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.595000	0.82710	1.814000	0.52955	0.383000	0.25322	ACC	TSTA3	-	pfam_Epimerase_deHydtase	ENSG00000104522		0.652	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTA3	HGNC	protein_coding	OTTHUMT00000382263.1	114	0.85	1	T	NM_003313		144697004	144697004	-1	no_errors	ENST00000425753	ensembl	human	known	69_37n	missense	92	18.58	21	SNP	1.000	G
TTBK2	146057	genome.wustl.edu	37	15	43038227	43038227	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:43038227T>G	ENST00000267890.6	-	15	3609	c.3501A>C	c.(3499-3501)tcA>tcC	p.S1167S	CTD-2036P10.3_ENST00000500850.2_lincRNA	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1167	Ser-rich.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCCTAGATGGTGAGGAACTAG	0.582																																						dbGAP											0													132.0	141.0	138.0					15																	43038227		2089	4212	6301	-	-	-	SO:0001819	synonymous_variant	0			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3501A>C	15.37:g.43038227T>G			O94932|Q6ZN52|Q8IVV1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S1167	ENST00000267890.6	37	c.3501	CCDS42029.1	15																																																																																			TTBK2	-	NULL	ENSG00000128881		0.582	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	264	0.75	2	T	NM_173500		43038227	43038227	-1	no_errors	ENST00000267890	ensembl	human	known	69_37n	silent	255	10.10	29	SNP	0.978	G
TTC39A	22996	genome.wustl.edu	37	1	51760091	51760091	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:51760091T>G	ENST00000447632.2	-	14	1394	c.1346A>C	c.(1345-1347)aAc>aCc	p.N449T	TTC39A_ENST00000413473.2_Missense_Mutation_p.N417T|TTC39A_ENST00000371750.5_Missense_Mutation_p.N414T|TTC39A_ENST00000530004.1_Missense_Mutation_p.N57T|TTC39A_ENST00000451380.1_Missense_Mutation_p.N413T|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000262675.7_Missense_Mutation_p.N386T			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	449								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CGAGATAGGGTTGGAGGAGAA	0.582																																						dbGAP											2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											51.0	58.0	56.0					1																	51760091		1923	4132	6055	-	-	-	SO:0001583	missense	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.1346A>C	1.37:g.51760091T>G	ENSP00000393952:p.Asn449Thr		B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.N449T	ENST00000447632.2	37	c.1346		1	.	.	.	.	.	.	.	.	.	.	T	7.669	0.686575	0.14973	.	.	ENSG00000085831	ENST00000530004;ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000525906	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.71	4.56	0.56223	.	0.321128	0.40640	N	0.001056	T	0.22244	0.0536	N	0.05383	-0.06	0.32671	N	0.516797	B;B;B;B;B	0.13594	0.001;0.003;0.008;0.0;0.0	B;B;B;B;B	0.16722	0.004;0.012;0.016;0.002;0.003	T	0.19549	-1.0302	10	0.10636	T	0.68	-5.4874	12.9535	0.58413	0.0:0.0:0.1354:0.8646	.	417;413;386;449;414	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9;G3XAF8	.;.;.;TT39A_HUMAN;.	T	57;449;417;386;413;414;57	ENSP00000431228:N57T;ENSP00000393952:N449T;ENSP00000406144:N417T;ENSP00000262675:N386T;ENSP00000397207:N413T;ENSP00000360815:N414T;ENSP00000436659:N57T	ENSP00000262675:N386T	N	-	2	0	TTC39A	51532679	1.000000	0.71417	0.946000	0.38457	0.890000	0.51754	2.255000	0.43222	0.966000	0.38159	0.379000	0.24179	AAC	TTC39A	-	pfam_OMP_IML2_mit/TPR_39	ENSG00000085831		0.582	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	125	0.00	0	T			51760091	51760091	-1	no_errors	ENST00000447632	ensembl	human	known	69_37n	missense	66	21.43	18	SNP	0.786	G
TTLL5	23093	genome.wustl.edu	37	14	76349195	76349195	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:76349195A>C	ENST00000298832.9	+	30	3895	c.3690A>C	c.(3688-3690)ccA>ccC	p.P1230P	TTLL5_ENST00000557636.1_Silent_p.P1245P|TTLL5_ENST00000554510.1_Silent_p.P739P|TTLL5_ENST00000556893.1_Silent_p.P781P	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1230					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCAAACCCCCACCCAACCACG	0.478																																						dbGAP											0													121.0	132.0	129.0					14																	76349195		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.3690A>C	14.37:g.76349195A>C			B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Silent	SNP	pfam_Tub_tyr_ligase	p.P1230	ENST00000298832.9	37	c.3690	CCDS32124.1	14																																																																																			TTLL5	-	NULL	ENSG00000119685		0.478	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	273	0.73	2	A	NM_015072		76349195	76349195	+1	no_errors	ENST00000298832	ensembl	human	known	69_37n	silent	225	11.02	28	SNP	0.451	C
TUB	7275	genome.wustl.edu	37	11	8119262	8119262	+	Splice_Site	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:8119262T>G	ENST00000299506.2	+	8	1036	c.887T>G	c.(886-888)gTg>gGg	p.V296G	TUB_ENST00000305253.4_Splice_Site_p.V351G|TUB_ENST00000534099.1_Splice_Site_p.V302G	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	296					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CTCCCCAAGGTGTTCCTCCTG	0.522																																						dbGAP											0													121.0	129.0	126.0					11																	8119262		2201	4296	6497	-	-	-	SO:0001630	splice_region_variant	0			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.886-1T>G	11.37:g.8119262T>G			D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.V351G	ENST00000299506.2	37	c.1052	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	T	24.4	4.523324	0.85600	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.96265	-3.96;-3.96;-3.96	4.97	4.97	0.65823	Tubby, C-terminal (3);	0.052943	0.64402	D	0.000001	D	0.97607	0.9216	M	0.83384	2.64	0.80722	D	1	D;D;D	0.61697	0.961;0.99;0.965	P;P;P	0.60949	0.569;0.881;0.821	D	0.97320	0.9943	10	0.34782	T	0.22	-19.5451	14.9362	0.70957	0.0:0.0:0.0:1.0	.	302;296;351	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	G	302;351;296	ENSP00000434400:V302G;ENSP00000305426:V351G;ENSP00000299506:V296G	ENSP00000299506:V296G	V	+	2	0	TUB	8075838	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.040000	0.89188	1.997000	0.58415	0.477000	0.44152	GTG	TUB	-	pfam_Tubby_C,superfamily_Tubby_C-like	ENSG00000166402		0.522	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	101	0.00	0	T	NM_003320	Missense_Mutation	8119262	8119262	+1	no_errors	ENST00000305253	ensembl	human	known	69_37n	missense	75	14.77	13	SNP	1.000	G
TUBA3C	7278	genome.wustl.edu	37	13	19752498	19752498	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:19752498T>G	ENST00000400113.3	-	3	367	c.263A>C	c.(262-264)cAc>cCc	p.H88P		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	88					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGCTCTGGGTGGAAGAGCTG	0.517																																						dbGAP											0													133.0	114.0	121.0					13																	19752498		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.263A>C	13.37:g.19752498T>G	ENSP00000382982:p.His88Pro		A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.H88P	ENST00000400113.3	37	c.263	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	t	12.54	1.970100	0.34754	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.70045	-0.45	1.37	1.37	0.22104	.	0.000000	0.49916	U	0.000134	T	0.69305	0.3096	.	.	.	0.45295	D	0.998295	.	.	.	.	.	.	T	0.69712	-0.5071	7	0.87932	D	0	.	6.8468	0.23992	0.0:0.0:0.0:1.0	.	.	.	.	P	88	ENSP00000382982:H88P	ENSP00000354037:H88P	H	-	2	0	TUBA3C	18650498	1.000000	0.71417	0.992000	0.48379	0.936000	0.57629	6.510000	0.73729	0.888000	0.36160	0.347000	0.21830	CAC	TUBA3C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin	ENSG00000198033		0.517	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	175	0.00	0	T	NM_006001		19752498	19752498	-1	no_errors	ENST00000400113	ensembl	human	known	69_37n	missense	136	17.58	29	SNP	1.000	G
TUBB6	84617	genome.wustl.edu	37	18	12310972	12310972	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:12310972T>G	ENST00000317702.5	+	3	431	c.197T>G	c.(196-198)gTg>gGg	p.V66G	TUBB6_ENST00000590967.1_Missense_Mutation_p.V66G|TUBB6_ENST00000591909.1_Missense_Mutation_p.V66G|TUBB6_ENST00000592683.1_Missense_Mutation_p.V66G|TUBB6_ENST00000586653.1_Missense_Mutation_p.V66G|TUBB6_ENST00000591208.1_Missense_Mutation_p.V66G			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	66					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GCCGCCCTGGTGGACTTAGAG	0.512																																						dbGAP											0													80.0	73.0	75.0					18																	12310972		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.197T>G	18.37:g.12310972T>G	ENSP00000318697:p.Val66Gly		B3KM76|Q9HA42	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin	p.V66G	ENST00000317702.5	37	c.197	CCDS11858.1	18	.	.	.	.	.	.	.	.	.	.	T	17.91	3.505237	0.64410	.	.	ENSG00000176014	ENST00000317702;ENST00000445717	T	0.74526	-0.85	4.82	4.82	0.62117	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.90662	0.7071	H	0.98612	4.28	0.80722	D	1	D	0.56035	0.974	P	0.62740	0.906	D	0.94047	0.7314	10	0.87932	D	0	.	14.5111	0.67787	0.0:0.0:0.0:1.0	.	66	Q9BUF5	TBB6_HUMAN	G	66	ENSP00000318697:V66G	ENSP00000318697:V66G	V	+	2	0	TUBB6	12300972	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.504000	0.81646	2.150000	0.67090	0.533000	0.62120	GTG	TUBB6	-	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin	ENSG00000176014		0.512	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB6	HGNC	protein_coding	OTTHUMT00000254600.2	194	0.00	0	T	NM_032525		12310972	12310972	+1	no_errors	ENST00000317702	ensembl	human	known	69_37n	missense	224	11.76	30	SNP	1.000	G
TUBG1	7283	genome.wustl.edu	37	17	40765753	40765753	+	Splice_Site	SNP	T	T	G	rs112953971		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:40765753T>G	ENST00000251413.3	+	7	755		c.e7+2			NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1						cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	AACCAGCTGGTGGGCCCCCAC	0.607																																					Colon(20;114 698 11420 22864)	dbGAP											0													129.0	122.0	125.0					17																	40765753		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.693+2T>G	17.37:g.40765753T>G			Q53X79|Q9BW59	Splice_Site	SNP	-	e7+2	ENST00000251413.3	37	c.693+2	CCDS11433.1	17	.	.	.	.	.	.	.	.	.	.	T	13.43	2.234094	0.39498	.	.	ENSG00000131462	ENST00000251413	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9552	0.64142	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TUBG1	38019279	1.000000	0.71417	1.000000	0.80357	0.426000	0.31534	7.865000	0.87049	1.893000	0.54813	0.454000	0.30748	.	TUBG1	-	-	ENSG00000131462		0.607	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG1	HGNC	protein_coding	OTTHUMT00000450548.1	301	0.33	1	T	NM_001070	Intron	40765753	40765753	+1	no_errors	ENST00000251413	ensembl	human	known	69_37n	splice_site	180	11.33	23	SNP	1.000	G
TUBGCP4	27229	genome.wustl.edu	37	15	43668321	43668321	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:43668321A>C	ENST00000260383.7	+	2	358	c.104A>C	c.(103-105)cAc>cCc	p.H35P	TUBGCP4_ENST00000570081.1_3'UTR|TUBGCP4_ENST00000399460.3_5'Flank|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.H35P			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	35					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		CCTTTCCTCCACCCCAGTGAG	0.542											OREG0023088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													138.0	145.0	143.0					15																	43668321		2023	4178	6201	-	-	-	SO:0001583	missense	0			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.104A>C	15.37:g.43668321A>C	ENSP00000260383:p.His35Pro	918	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.H35P	ENST00000260383.7	37	c.104		15	.	.	.	.	.	.	.	.	.	.	A	28.0	4.884731	0.91814	.	.	ENSG00000137822	ENST00000260383	T	0.06449	3.3	5.64	5.64	0.86602	.	0.042568	0.85682	D	0.000000	T	0.17916	0.0430	M	0.61703	1.905	0.80722	D	1	P;P	0.42248	0.774;0.733	P;P	0.54431	0.752;0.637	T	0.00785	-1.1567	10	0.30854	T	0.27	-20.7559	15.3291	0.74193	1.0:0.0:0.0:0.0	.	35;35	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	P	35	ENSP00000260383:H35P	ENSP00000260383:H35P	H	+	2	0	TUBGCP4	41455613	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.377000	0.73145	2.265000	0.75225	0.482000	0.46254	CAC	TUBGCP4	-	pfam_Spc97_Spc98	ENSG00000137822		0.542	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	TUBGCP4	HGNC	protein_coding	OTTHUMT00000432970.1	134	0.74	1	A	NM_014444		43668321	43668321	+1	no_errors	ENST00000260383	ensembl	human	known	69_37n	missense	81	16.49	16	SNP	1.000	C
TULP4	56995	genome.wustl.edu	37	6	158870056	158870056	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:158870056T>G	ENST00000367097.3	+	4	1929	c.572T>G	c.(571-573)gTg>gGg	p.V191G	TULP4_ENST00000367094.2_Missense_Mutation_p.V191G	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	191					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GATGGGCAGGTGATTGTCATG	0.592																																						dbGAP											0													135.0	102.0	113.0					6																	158870056		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.572T>G	6.37:g.158870056T>G	ENSP00000356064:p.Val191Gly		Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V191G	ENST00000367097.3	37	c.572	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	T	29.3	4.991616	0.93106	.	.	ENSG00000130338	ENST00000367097;ENST00000367094	T;T	0.24350	1.86;1.86	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.43634	0.1256	M	0.75085	2.285	0.80722	D	1	D;D;D	0.76494	0.999;0.992;0.999	D;D;D	0.85130	0.991;0.985;0.997	T	0.49341	-0.8950	10	0.87932	D	0	-23.6936	15.2277	0.73364	0.0:0.0:0.0:1.0	.	191;191;191	B4E202;Q9NRJ4-2;Q9NRJ4	.;.;TULP4_HUMAN	G	191	ENSP00000356064:V191G;ENSP00000356061:V191G	ENSP00000356061:V191G	V	+	2	0	TULP4	158790044	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.946000	0.87746	2.010000	0.58986	0.460000	0.39030	GTG	TULP4	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000130338		0.592	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	135	0.00	0	T	NM_020245		158870056	158870056	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	missense	76	21.65	21	SNP	1.000	G
TULP4	56995	genome.wustl.edu	37	6	158924082	158924082	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:158924082T>G	ENST00000367097.3	+	13	4744	c.3387T>G	c.(3385-3387)ggT>ggG	p.G1129G	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1129					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCATGCTGGGTGAGGATGTTT	0.587																																						dbGAP											0													71.0	65.0	67.0					6																	158924082		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3387T>G	6.37:g.158924082T>G			Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1129	ENST00000367097.3	37	c.3387	CCDS34561.1	6																																																																																			TULP4	-	NULL	ENSG00000130338		0.587	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	44	0.00	0	T	NM_020245		158924082	158924082	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	silent	39	13.33	6	SNP	1.000	G
TXNRD2	10587	genome.wustl.edu	37	22	19870889	19870889	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:19870889T>G	ENST00000400521.1	-	12	1051	c.1045A>C	c.(1045-1047)Acc>Ccc	p.T349P	TXNRD2_ENST00000542719.1_Missense_Mutation_p.T319P|TXNRD2_ENST00000535882.1_Missense_Mutation_p.T348P|TXNRD2_ENST00000400518.1_Missense_Mutation_p.T319P|TXNRD2_ENST00000400519.1_Missense_Mutation_p.T348P	NM_006440.3	NP_006431.2	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	349					cell redox homeostasis (GO:0045454)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|response to oxygen radical (GO:0000305)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|thioredoxin-disulfide reductase activity (GO:0004791)			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					GGCACAGAGGTGGCTTCCCGG	0.622																																						dbGAP											0													105.0	122.0	116.0					22																	19870889		2047	4198	6245	-	-	-	SO:0001583	missense	0			AF106697	CCDS42981.1, CCDS63402.1	22q11.21	2014-09-17			ENSG00000184470	ENSG00000184470			18155	protein-coding gene	gene with protein product	"""thioredoxin reductase beta"", ""selenoprotein Z"""	606448				9923614, 10215850, 11012661	Standard	NM_006440		Approved	TR, TRXR2, TR3	uc021wlj.1	Q9NNW7	OTTHUMG00000149975	ENST00000400521.1:c.1045A>C	22.37:g.19870889T>G	ENSP00000383365:p.Thr349Pro		O95840|Q96IJ2|Q9H2Z5|Q9NZV3|Q9NZV4|Q9P2Y0|Q9P2Y1|Q9UQU8	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase	p.T348P	ENST00000400521.1	37	c.1042	CCDS42981.1	22	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717536	0.30413	.	.	ENSG00000184470	ENST00000400518;ENST00000538798;ENST00000400521;ENST00000400525;ENST00000540474;ENST00000400519;ENST00000535882;ENST00000542719	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.07	5.07	0.68467	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.057695	0.64402	D	0.000002	T	0.78214	0.4248	H	0.97940	4.11	0.80722	D	1	B;B	0.18741	0.03;0.03	B;B	0.27076	0.076;0.076	T	0.81206	-0.1038	10	0.87932	D	0	-7.8324	15.1434	0.72630	0.0:0.0:0.0:1.0	.	349;348	Q9NNW7;D3YTF9	TRXR2_HUMAN;.	P	319;349;349;326;253;348;348;319	ENSP00000383362:T319P;ENSP00000383365:T349P;ENSP00000383369:T326P;ENSP00000383363:T348P;ENSP00000439314:T348P;ENSP00000439570:T319P	ENSP00000383362:T319P	T	-	1	0	TXNRD2	18250889	1.000000	0.71417	0.980000	0.43619	0.114000	0.19823	5.221000	0.65272	2.034000	0.60081	0.460000	0.39030	ACC	TXNRD2	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Thioredoxin/glutathione_Rdtase	ENSG00000184470		0.622	TXNRD2-003	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD2	HGNC	protein_coding	OTTHUMT00000314903.3	206	0.00	0	T	NM_006440		19870889	19870889	-1	no_errors	ENST00000535882	ensembl	human	known	69_37n	missense	165	12.63	24	SNP	1.000	G
UBAP2	55833	genome.wustl.edu	37	9	33923997	33923997	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:33923997A>C	ENST00000379238.1	-	24	2709	c.2592T>G	c.(2590-2592)ggT>ggG	p.G864G	UBAP2_ENST00000360802.1_Splice_Site_p.G864G|UBAP2_ENST00000379235.1_Splice_Site_p.G103G|UBAP2_ENST00000379239.4_Splice_Site_p.G597G|UBAP2_ENST00000539807.1_Splice_Site_p.G619G|UBAP2_ENST00000449054.1_Splice_Site_p.G864G					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TTGTGACATCACCTAGGAAAG	0.592																																						dbGAP											0													130.0	125.0	127.0					9																	33923997		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2591-1T>G	9.37:g.33923997A>C				Silent	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.G864	ENST00000379238.1	37	c.2592	CCDS6547.1	9																																																																																			UBAP2	-	NULL	ENSG00000137073		0.592	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	341	0.87	3	A	NM_018449	Silent	33923997	33923997	-1	no_errors	ENST00000360802	ensembl	human	known	69_37n	silent	200	16.94	41	SNP	1.000	C
UBR4	23352	genome.wustl.edu	37	1	19439211	19439211	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:19439211T>G	ENST00000375254.3	-	78	11635	c.11608A>C	c.(11608-11610)Acc>Ccc	p.T3870P	UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375226.2_Missense_Mutation_p.T3846P|UBR4_ENST00000375267.2_Missense_Mutation_p.T3870P|UBR4_ENST00000375217.2_Missense_Mutation_p.T3863P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3870					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)		TAGCACTTGGTGGAGGATGTG	0.592																																						dbGAP											0													233.0	221.0	225.0					1																	19439211		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.11608A>C	1.37:g.19439211T>G	ENSP00000364403:p.Thr3870Pro		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.T3870P	ENST00000375254.3	37	c.11608	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295735	0.60086	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226	T;T;T;T	0.23754	1.89;1.89;1.9;1.9	5.5	5.5	0.81552	.	0.169147	0.51477	D	0.000084	T	0.16938	0.0407	N	0.14661	0.345	0.80722	D	1	P	0.42039	0.769	B	0.38156	0.266	T	0.04255	-1.0965	10	0.48119	T	0.1	.	14.4288	0.67236	0.0:0.0:0.0:1.0	.	3870	Q5T4S7	UBR4_HUMAN	P	3870;3870;3863;3846	ENSP00000364403:T3870P;ENSP00000364416:T3870P;ENSP00000364365:T3863P;ENSP00000364374:T3846P	ENSP00000364365:T3863P	T	-	1	0	UBR4	19311798	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.454000	0.80714	2.086000	0.62901	0.533000	0.62120	ACC	UBR4	-	NULL	ENSG00000127481		0.592	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	185	0.00	0	T	NM_020765		19439211	19439211	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	141	14.02	23	SNP	1.000	G
UBE2Q1	55585	genome.wustl.edu	37	1	154525277	154525277	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:154525277A>C	ENST00000292211.4	-	6	828	c.749T>G	c.(748-750)gTg>gGg	p.V250G	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	250					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGTGGCCTGCACCGAGCCAGA	0.552																																						dbGAP											0													52.0	55.0	54.0					1																	154525277		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.749T>G	1.37:g.154525277A>C	ENSP00000292211:p.Val250Gly		B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.V250G	ENST00000292211.4	37	c.749	CCDS1069.1	1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619159	0.87460	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.18	5.18	0.71444	Ubiquitin-conjugating enzyme/RWD-like (1);	0.066582	0.64402	D	0.000014	T	0.75693	0.3884	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.68765	0.96	T	0.80647	-0.1289	9	0.72032	D	0.01	-8.8173	14.0099	0.64490	1.0:0.0:0.0:0.0	.	250	Q7Z7E8	UB2Q1_HUMAN	G	250	.	ENSP00000292211:V250G	V	-	2	0	UBE2Q1	152791901	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.914000	0.92735	2.182000	0.69389	0.460000	0.39030	GTG	UBE2Q1	-	superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000160714		0.552	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	103	0.96	1	A	NM_017582		154525277	154525277	-1	no_errors	ENST00000292211	ensembl	human	known	69_37n	missense	123	15.75	23	SNP	1.000	C
UBTF	7343	genome.wustl.edu	37	17	42293020	42293020	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:42293020A>C	ENST00000302904.4	-	5	967		c.e5+1		UBTF_ENST00000529383.1_Splice_Site|UBTF_ENST00000436088.1_Splice_Site|UBTF_ENST00000343638.5_Splice_Site|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Splice_Site|UBTF_ENST00000393606.3_Splice_Site|UBTF_ENST00000527034.1_Splice_Site|UBTF_ENST00000533177.1_Splice_Site|UBTF_ENST00000537550.1_5'UTR			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I						chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCCTCCCCCCACCTTCTTCTT	0.562																																						dbGAP											0													96.0	100.0	99.0					17																	42293020		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.474+1T>G	17.37:g.42293020A>C			A8K6R8	Splice_Site	SNP	-	e4+2	ENST00000302904.4	37	c.474+2	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	A	16.99	3.275074	0.59649	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383;ENST00000530828	.	.	.	4.27	3.1	0.35709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9245	0.47184	0.844:0.156:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBTF	39648546	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.191000	0.72063	1.692000	0.51112	0.383000	0.25322	.	UBTF	-	-	ENSG00000108312		0.562	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	153	0.00	0	A	NM_014233	Intron	42293020	42293020	-1	no_errors	ENST00000302904	ensembl	human	known	69_37n	splice_site	284	12.23	40	SNP	1.000	C
UBXN11	91544	genome.wustl.edu	37	1	26609377	26609377	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:26609377T>G	ENST00000374222.1	-	14	1593	c.1129A>C	c.(1129-1131)Acc>Ccc	p.T377P	UBXN11_ENST00000314675.7_Missense_Mutation_p.T257P|UBXN11_ENST00000374223.1_Missense_Mutation_p.T134P|UBXN11_ENST00000374221.3_Missense_Mutation_p.T377P|UBXN11_ENST00000374217.2_Missense_Mutation_p.T344P|UBXN11_ENST00000357089.4_Missense_Mutation_p.T344P			Q5T124	UBX11_HUMAN	UBX domain protein 11	377						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						GCGGCCAAGGTGGGCGTCTCC	0.647																																						dbGAP											0													66.0	78.0	74.0					1																	26609377		2100	4235	6335	-	-	-	SO:0001583	missense	0			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1129A>C	1.37:g.26609377T>G	ENSP00000363339:p.Thr377Pro		D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Missense_Mutation	SNP	pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX	p.T377P	ENST00000374222.1	37	c.1129	CCDS41288.1	1	.	.	.	.	.	.	.	.	.	.	T	10.18	1.279849	0.23392	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03	3.98	1.95	0.26073	.	0.504017	0.20803	N	0.085391	T	0.28532	0.0706	L	0.29908	0.895	0.80722	D	1	P;P;P;P	0.41265	0.744;0.744;0.531;0.497	B;B;B;B	0.41510	0.271;0.359;0.201;0.091	T	0.02457	-1.1156	10	0.33940	T	0.23	-12.6517	6.3142	0.21180	0.0:0.6944:0.0:0.3056	.	344;339;257;377	Q5T124-2;Q5T124-4;Q5T124-3;Q5T124	.;.;.;UBX11_HUMAN	P	257;134;344;377;377;344	ENSP00000324721:T257P;ENSP00000363340:T134P;ENSP00000349601:T344P;ENSP00000363338:T377P;ENSP00000363339:T377P;ENSP00000363334:T344P	ENSP00000324721:T257P	T	-	1	0	UBXN11	26481964	0.998000	0.40836	0.964000	0.40570	0.092000	0.18411	0.572000	0.23684	0.531000	0.28639	-0.290000	0.09829	ACC	UBXN11	-	NULL	ENSG00000158062		0.647	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UBXN11	HGNC	protein_coding	OTTHUMT00000009500.1	112	0.00	0	T	NM_145345		26609377	26609377	-1	no_errors	ENST00000374221	ensembl	human	known	69_37n	missense	105	13.11	16	SNP	0.984	G
UGT1A1	54658	genome.wustl.edu	37	2	234527064	234527064	+	Silent	SNP	A	A	C	rs1126805	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:234527064A>C	ENST00000373450.4	+	1	774	c.711A>C	c.(709-711)acA>acC	p.T237T		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	240					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	TTCTCCAAACACCTGTCACAG	0.418													-|||	48	0.00958466	0.0	0.0	5008	,	,		20179	0.0476		0.0	False		,,,				2504	0.0					dbGAP											0													265.0	274.0	271.0					2																	234527064		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.711A>C	2.37:g.234527064A>C			A6NJC3|B8K286	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.T237	ENST00000373450.4	37	c.711	CCDS33402.1	2																																																																																			UGT1A8	-	pfam_UDP_glucos_trans	ENSG00000242366		0.418	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UGT1A8	HGNC	protein_coding	OTTHUMT00000130994.1	161	0.00	0	A			234527064	234527064	+1	no_errors	ENST00000373450	ensembl	human	known	69_37n	silent	171	12.76	25	SNP	0.000	C
ULK1	8408	genome.wustl.edu	37	12	132392051	132392051	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:132392051T>G	ENST00000321867.4	+	5	642	c.291T>G	c.(289-291)ggT>ggG	p.G97G		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	97	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACTGCAACGGTGGGGACCTGG	0.697																																						dbGAP											0													70.0	61.0	64.0					12																	132392051		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.291T>G	12.37:g.132392051T>G			Q9UQ28	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G97	ENST00000321867.4	37	c.291	CCDS9274.1	12																																																																																			ULK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000177169		0.697	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	81	0.00	0	T			132392051	132392051	+1	no_errors	ENST00000321867	ensembl	human	known	69_37n	silent	33	13.16	5	SNP	0.460	G
UNC45B	146862	genome.wustl.edu	37	17	33495247	33495247	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:33495247T>G	ENST00000268876.5	+	10	1416	c.1319T>G	c.(1318-1320)gTg>gGg	p.V440G	RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000394570.2_Missense_Mutation_p.V440G|UNC45B_ENST00000433649.1_Missense_Mutation_p.V440G|UNC45B_ENST00000591048.1_Missense_Mutation_p.V440G|UNC45B_ENST00000378449.1_Missense_Mutation_p.V440G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	440					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GACCAGCTGGTGGCCGTGGAG	0.592																																						dbGAP											0													110.0	82.0	92.0					17																	33495247		2203	4300	6503	-	-	-	SO:0001583	missense	0			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1319T>G	17.37:g.33495247T>G	ENSP00000268876:p.Val440Gly		Q495Q8|Q495Q9	Missense_Mutation	SNP	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,smart_Armadillo,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V440G	ENST00000268876.5	37	c.1319	CCDS11292.1	17	.	.	.	.	.	.	.	.	.	.	T	24.5	4.543205	0.86022	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.49139	0.79;3.51;0.79;0.79	5.02	5.02	0.67125	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.80764	0.95;0.994;0.978	T	0.70883	-0.4751	10	0.72032	D	0.01	-30.1514	14.3661	0.66807	0.0:0.0:0.0:1.0	.	440;440;440	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	G	440	ENSP00000378071:V440G;ENSP00000268876:V440G;ENSP00000412840:V440G;ENSP00000367710:V440G	ENSP00000268876:V440G	V	+	2	0	UNC45B	30519360	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.233000	0.73108	0.533000	0.62120	GTG	UNC45B	-	pfam_UNC-45/Ring3,superfamily_ARM-type_fold	ENSG00000141161		0.592	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45B	HGNC	protein_coding	OTTHUMT00000256458.2	117	0.00	0	T	NM_173167		33495247	33495247	+1	no_errors	ENST00000268876	ensembl	human	known	69_37n	missense	96	11.11	12	SNP	1.000	G
UNC5B	219699	genome.wustl.edu	37	10	73050837	73050837	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:73050837A>C	ENST00000335350.6	+	9	1681	c.1265A>C	c.(1264-1266)cAc>cCc	p.H422P	UNC5B_ENST00000373192.4_Missense_Mutation_p.H411P	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	422					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGTGGTTTCCACCCCGTCAAC	0.597																																						dbGAP											0													224.0	212.0	216.0					10																	73050837		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1265A>C	10.37:g.73050837A>C	ENSP00000334329:p.His422Pro		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Death,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.H422P	ENST00000335350.6	37	c.1265	CCDS7309.1	10	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790403	0.50102	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.48836	0.86;0.8	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.63414	0.2509	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.64275	-0.6446	10	0.51188	T	0.08	-37.8363	15.397	0.74805	1.0:0.0:0.0:0.0	.	411;422	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	P	422;411	ENSP00000334329:H422P;ENSP00000362288:H411P	ENSP00000334329:H422P	H	+	2	0	UNC5B	72720843	1.000000	0.71417	1.000000	0.80357	0.116000	0.19942	7.576000	0.82467	2.051000	0.60960	0.533000	0.62120	CAC	UNC5B	-	NULL	ENSG00000107731		0.597	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1	121	0.00	0	A	NM_170744		73050837	73050837	+1	no_errors	ENST00000335350	ensembl	human	known	69_37n	missense	66	26.37	24	SNP	1.000	C
UNC79	57578	genome.wustl.edu	37	14	94100939	94100939	+	Missense_Mutation	SNP	A	A	G	rs79441035		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:94100939A>G	ENST00000393151.2	+	32	5789	c.5789A>G	c.(5788-5790)gAg>gGg	p.E1930G	UNC79_ENST00000553484.1_Missense_Mutation_p.E1952G|UNC79_ENST00000555664.1_Intron|UNC79_ENST00000256339.4_Missense_Mutation_p.E1753G			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1930					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CGGCAGCTGGAGCATCAGTCT	0.473																																						dbGAP											0													107.0	107.0	107.0					14																	94100939		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5789A>G	14.37:g.94100939A>G	ENSP00000376858:p.Glu1930Gly		B5MDL6|Q6ZUT7	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1952G	ENST00000393151.2	37	c.5855		14	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584722	0.86748	.	.	ENSG00000133958	ENST00000256339;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T	0.25912	1.77;1.77;1.77	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	N	0.19112	0.55	0.54753	D	0.999987	D	0.89917	1.0	D	0.80764	0.994	T	0.26849	-1.0091	10	0.56958	D	0.05	-14.3068	15.7068	0.77588	1.0:0.0:0.0:0.0	.	1952	C9JQL1	.	G	1753;1952;1930;1952	ENSP00000256339:E1753G;ENSP00000451360:E1952G;ENSP00000376858:E1930G	ENSP00000256339:E1753G	E	+	2	0	KIAA1409	93170692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.265000	0.95647	2.173000	0.68751	0.533000	0.62120	GAG	UNC79	-	superfamily_ARM-type_fold	ENSG00000133958		0.473	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	180	0.00	0	A	XM_028395		94100939	94100939	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	missense	146	12.57	21	SNP	1.000	G
UNC80	285175	genome.wustl.edu	37	2	210822396	210822396	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:210822396T>G	ENST00000439458.1	+	48	7368	c.7288T>G	c.(7288-7290)Tgt>Ggt	p.C2430G	UNC80_ENST00000272845.6_Missense_Mutation_p.C2425G	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	2430					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GATGAGCAGGTGTGACCAAGG	0.458																																						dbGAP											0													159.0	165.0	163.0					2																	210822396		692	1591	2283	-	-	-	SO:0001583	missense	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.7288T>G	2.37:g.210822396T>G	ENSP00000391088:p.Cys2430Gly		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.C2430G	ENST00000439458.1	37	c.7288	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	T	10.71	1.427447	0.25726	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.29142	1.58;1.58	4.99	3.8	0.43715	.	0.198387	0.53938	D	0.000041	T	0.16257	0.0391	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05683	-1.0870	10	0.35671	T	0.21	-7.6108	6.9906	0.24753	0.1528:0.0:0.1493:0.6979	.	2430	Q8N2C7	UNC80_HUMAN	G	2430;2425	ENSP00000391088:C2430G;ENSP00000272845:C2425G	ENSP00000272845:C2425G	C	+	1	0	UNC80	210530641	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.773000	0.55333	0.977000	0.38444	0.533000	0.62120	TGT	UNC80	-	NULL	ENSG00000144406		0.458	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		237	0.42	1	T	NM_182587		210822396	210822396	+1	no_errors	ENST00000439458	ensembl	human	known	69_37n	missense	157	12.29	22	SNP	1.000	G
UNC80	285175	genome.wustl.edu	37	2	210822423	210822423	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:210822423A>C	ENST00000439458.1	+	48	7395	c.7315A>C	c.(7315-7317)Aca>Cca	p.T2439P	UNC80_ENST00000272845.6_Missense_Mutation_p.T2434P	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	2439					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGGAACCACCACAGCCAATCA	0.478																																						dbGAP											0													157.0	173.0	168.0					2																	210822423		692	1591	2283	-	-	-	SO:0001583	missense	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.7315A>C	2.37:g.210822423A>C	ENSP00000391088:p.Thr2439Pro		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.T2439P	ENST00000439458.1	37	c.7315	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	A	14.44	2.537139	0.45176	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.32272	1.46;1.46	4.84	-0.0321	0.13906	.	0.402089	0.29806	N	0.011141	T	0.22513	0.0543	L	0.34521	1.04	0.80722	D	1	B	0.25609	0.13	B	0.35039	0.194	T	0.05146	-1.0903	10	0.29301	T	0.29	-2.1153	8.5793	0.33619	0.5535:0.0:0.4465:0.0	.	2439	Q8N2C7	UNC80_HUMAN	P	2439;2434	ENSP00000391088:T2439P;ENSP00000272845:T2434P	ENSP00000272845:T2434P	T	+	1	0	UNC80	210530668	0.003000	0.15002	0.998000	0.56505	0.998000	0.95712	0.184000	0.16939	0.107000	0.17824	0.533000	0.62120	ACA	UNC80	-	NULL	ENSG00000144406		0.478	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		240	0.41	1	A	NM_182587		210822423	210822423	+1	no_errors	ENST00000439458	ensembl	human	known	69_37n	missense	170	13.71	27	SNP	0.849	C
UNK	85451	genome.wustl.edu	37	17	73812901	73812901	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:73812901A>C	ENST00000589666.1	+	8	1122	c.1012A>C	c.(1012-1014)Acc>Ccc	p.T338P	UNK_ENST00000293218.3_Missense_Mutation_p.T414P|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	338							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCCAGCCCCACCCAGCCAGG	0.667																																						dbGAP											0													32.0	39.0	36.0					17																	73812901		2173	4252	6425	-	-	-	SO:0001583	missense	0			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1012A>C	17.37:g.73812901A>C	ENSP00000464893:p.Thr338Pro			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.T414P	ENST00000589666.1	37	c.1240	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	A	14.27	2.486610	0.44249	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.94	4.94	0.65067	.	0.184342	0.47852	D	0.000211	T	0.60818	0.2298	N	0.19112	0.55	0.58432	D	0.999993	D	0.65815	0.995	D	0.70487	0.969	T	0.59397	-0.7462	9	0.29301	T	0.29	-20.1038	15.0749	0.72069	1.0:0.0:0.0:0.0	.	338	Q9C0B0	UNK_HUMAN	P	414	.	ENSP00000293218:T414P	T	+	1	0	UNK	71324496	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.824000	0.69279	2.207000	0.71202	0.533000	0.62120	ACC	UNK	-	NULL	ENSG00000132478		0.667	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	71	0.00	0	A	NM_001080419		73812901	73812901	+1	no_errors	ENST00000293218	ensembl	human	known	69_37n	missense	57	19.72	14	SNP	1.000	C
UNK	85451	genome.wustl.edu	37	17	73813573	73813573	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:73813573T>G	ENST00000589666.1	+	9	1381	c.1271T>G	c.(1270-1272)gTg>gGg	p.V424G	UNK_ENST00000293218.3_Missense_Mutation_p.V500G|RP11-552F3.4_ENST00000586808.1_RNA	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	424							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGACCAGGTGGGAGCCGAG	0.587																																						dbGAP											0													39.0	44.0	42.0					17																	73813573		1928	4122	6050	-	-	-	SO:0001583	missense	0			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1271T>G	17.37:g.73813573T>G	ENSP00000464893:p.Val424Gly			Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.V500G	ENST00000589666.1	37	c.1499	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258027	0.59321	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.81	4.81	0.61882	.	0.069503	0.56097	D	0.000027	T	0.68238	0.2979	L	0.50333	1.59	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	T	0.64495	-0.6394	9	0.23891	T	0.37	-16.0017	14.5268	0.67894	0.0:0.0:0.0:1.0	.	424	Q9C0B0	UNK_HUMAN	G	500	.	ENSP00000293218:V500G	V	+	2	0	UNK	71325168	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.666000	0.83877	2.013000	0.59113	0.460000	0.39030	GTG	UNK	-	NULL	ENSG00000132478		0.587	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	108	0.00	0	T	NM_001080419		73813573	73813573	+1	no_errors	ENST00000293218	ensembl	human	known	69_37n	missense	97	22.22	28	SNP	1.000	G
UROC1	131669	genome.wustl.edu	37	3	126222925	126222925	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:126222925A>C	ENST00000290868.2	-	9	868	c.815T>G	c.(814-816)gTg>gGg	p.V272G	UROC1_ENST00000383579.3_Splice_Site_p.V272G	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	272					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGCTTTATCCACCTGGGGCCA	0.562																																						dbGAP											0													102.0	81.0	88.0					3																	126222925		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.814-1T>G	3.37:g.126222925A>C			E9PE13|Q14C64|Q68CJ7	Missense_Mutation	SNP	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	p.V272G	ENST00000290868.2	37	c.815	CCDS3038.1	3	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266530	0.80358	.	.	ENSG00000159650	ENST00000290868;ENST00000383579	T;T	0.56444	0.46;0.46	5.04	5.04	0.67666	Urocanase domain (2);	0.000000	0.85682	D	0.000000	T	0.80347	0.4606	H	0.96239	3.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.992	D	0.86272	0.1662	10	0.87932	D	0	-27.3216	13.0072	0.58712	1.0:0.0:0.0:0.0	.	272;272	E9PE13;Q96N76	.;HUTU_HUMAN	G	272	ENSP00000290868:V272G;ENSP00000373073:V272G	ENSP00000290868:V272G	V	-	2	0	UROC1	127705615	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	8.666000	0.91149	2.023000	0.59567	0.402000	0.26972	GTG	UROC1	-	pfam_Urocanase_dom,superfamily_Urocanase_dom,pirsf_Urocanase	ENSG00000159650		0.562	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROC1	HGNC	protein_coding	OTTHUMT00000370325.2	107	0.91	1	A	NM_144639	Missense_Mutation	126222925	126222925	-1	no_errors	ENST00000290868	ensembl	human	known	69_37n	missense	72	24.21	23	SNP	1.000	C
USP5	8078	genome.wustl.edu	37	12	6970210	6970210	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:6970210A>C	ENST00000229268.8	+	12	1490	c.1438A>C	c.(1438-1440)Acc>Ccc	p.T480P	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.T480P	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	480	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GGTGAAGTACACCCAGCGAGT	0.542																																						dbGAP											0													186.0	173.0	177.0					12																	6970210		2203	4300	6503	-	-	-	SO:0001583	missense	0			U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1438A>C	12.37:g.6970210A>C	ENSP00000229268:p.Thr480Pro		D3DUS7|D3DUS8|Q96J22	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.T480P	ENST00000229268.8	37	c.1438	CCDS41743.1	12	.	.	.	.	.	.	.	.	.	.	A	25.9	4.685241	0.88639	.	.	ENSG00000111667	ENST00000229268;ENST00000389231;ENST00000542087	T;T	0.76186	-1.0;-1.0	5.04	5.04	0.67666	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.87474	0.6186	M	0.89214	3.015	0.80722	D	1	D;D	0.63880	0.993;0.991	D;D	0.68621	0.959;0.937	D	0.89693	0.3899	10	0.62326	D	0.03	-6.9914	14.9451	0.71023	1.0:0.0:0.0:0.0	.	480;480	P45974;P45974-2	UBP5_HUMAN;.	P	480;480;123	ENSP00000229268:T480P;ENSP00000373883:T480P	ENSP00000229268:T480P	T	+	1	0	USP5	6840471	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.139000	0.94554	2.110000	0.64415	0.459000	0.35465	ACC	USP5	-	pfam_Peptidase_C19,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19	ENSG00000111667		0.542	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP5	HGNC	protein_coding	OTTHUMT00000402982.1	95	0.00	0	A			6970210	6970210	+1	no_errors	ENST00000229268	ensembl	human	known	69_37n	missense	85	19.05	20	SNP	1.000	C
USP54	159195	genome.wustl.edu	37	10	75296096	75296096	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:75296096T>G	ENST00000339859.4	-	10	1175	c.1075A>C	c.(1075-1077)Acc>Ccc	p.T359P	USP54_ENST00000319786.7_Missense_Mutation_p.T359P|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_Missense_Mutation_p.T209P|USP54_ENST00000408019.1_Missense_Mutation_p.T359P			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	359					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGGTCCTGGGTGGAAACTGGG	0.547																																					Colon(195;880 2046 8854 25025 38456)	dbGAP											0													93.0	99.0	97.0					10																	75296096		1969	4157	6126	-	-	-	SO:0001583	missense	0			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.1075A>C	10.37:g.75296096T>G	ENSP00000345216:p.Thr359Pro		A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.T359P	ENST00000339859.4	37	c.1075	CCDS7329.2	10	.	.	.	.	.	.	.	.	.	.	T	17.10	3.303864	0.60305	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000319786	T;T;T;T	0.26518	1.73;1.73;1.73;3.44	5.6	4.47	0.54385	.	0.401484	0.24265	U	0.040050	T	0.14485	0.0350	N	0.25890	0.77	0.21325	N	0.999721	B;B;B;B	0.29988	0.002;0.001;0.008;0.264	B;B;B;B	0.20577	0.001;0.003;0.007;0.03	T	0.20706	-1.0267	10	0.20046	T	0.44	-2.6758	8.0783	0.30729	0.0:0.1566:0.0:0.8434	.	359;359;359;359	B7Z7X1;Q70EL1-4;Q70EL1-6;Q70EL1	.;.;.;UBP54_HUMAN	P	359;359;209;359	ENSP00000345216:T359P;ENSP00000386080:T359P;ENSP00000408714:T209P;ENSP00000326547:T359P	ENSP00000326547:T359P	T	-	1	0	USP54	74966102	0.045000	0.20229	1.000000	0.80357	0.741000	0.42261	0.348000	0.20031	0.970000	0.38263	0.533000	0.62120	ACC	USP54	-	NULL	ENSG00000166348		0.547	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	142	0.70	1	T	NM_152586		75296096	75296096	-1	no_errors	ENST00000339859	ensembl	human	known	69_37n	missense	120	14.89	21	SNP	0.984	G
UTP6	55813	genome.wustl.edu	37	17	30219317	30219317	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:30219317A>C	ENST00000261708.4	-	6	523	c.386T>G	c.(385-387)gTa>gGa	p.V129G	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	129					rRNA processing (GO:0006364)	nucleolus (GO:0005730)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				GGCAGAGAATACCTTGCTAAG	0.338																																						dbGAP											0													70.0	69.0	70.0					17																	30219317		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.386T>G	17.37:g.30219317A>C	ENSP00000261708:p.Val129Gly		Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	pfam_U3_snoRNA_assoc-6,smart_HAT	p.V129G	ENST00000261708.4	37	c.386	CCDS11269.1	17	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709493	0.68730	.	.	ENSG00000108651	ENST00000261708	T	0.36878	1.23	5.06	5.06	0.68205	.	0.388717	0.29376	N	0.012327	T	0.38081	0.1027	M	0.62723	1.935	0.80722	D	1	P;P	0.48998	0.586;0.918	B;B	0.40565	0.232;0.333	T	0.44544	-0.9321	10	0.72032	D	0.01	-9.588	14.7617	0.69610	1.0:0.0:0.0:0.0	.	129;129	B4DSL9;Q9NYH9	.;UTP6_HUMAN	G	129	ENSP00000261708:V129G	ENSP00000261708:V129G	V	-	2	0	UTP6	27243430	0.980000	0.34600	0.987000	0.45799	0.873000	0.50193	6.155000	0.71833	2.035000	0.60131	0.383000	0.25322	GTA	UTP6	-	smart_HAT	ENSG00000108651		0.338	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP6	HGNC	protein_coding	OTTHUMT00000256265.2	152	0.00	0	A	NM_018428		30219317	30219317	-1	no_errors	ENST00000261708	ensembl	human	known	69_37n	missense	111	15.04	20	SNP	0.998	C
VARS2	57176	genome.wustl.edu	37	6	30885526	30885526	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:30885526A>C	ENST00000321897.5	+	9	1560	c.928A>C	c.(928-930)Acc>Ccc	p.T310P	VARS2_ENST00000542001.1_Missense_Mutation_p.T170P|VARS2_ENST00000416670.2_Missense_Mutation_p.T310P|VARS2_ENST00000541562.1_Missense_Mutation_p.T340P			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	310					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGGCTGCCCCACCCCCGTGTC	0.597																																						dbGAP											0													100.0	83.0	89.0					6																	30885526		2194	4293	6487	-	-	-	SO:0001583	missense	0			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.928A>C	6.37:g.30885526A>C	ENSP00000316092:p.Thr310Pro		A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_synthetase,tigrfam_Valyl-tRNA_synthetase	p.T340P	ENST00000321897.5	37	c.1018	CCDS34387.1	6	.	.	.	.	.	.	.	.	.	.	A	12.20	1.866723	0.32977	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000428017;ENST00000541562	T;T;T;T;T	0.30981	3.51;3.51;3.25;1.51;3.51	5.4	1.37	0.22104	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (1);Aminoacyl-tRNA synthetase, class Ia (1);	1.110750	0.06581	N	0.750381	T	0.06917	0.0176	N	0.16656	0.425	0.09310	N	1	B;B;B	0.32071	0.355;0.305;0.001	B;B;B	0.35413	0.202;0.195;0.009	T	0.38308	-0.9667	10	0.52906	T	0.07	-1.2361	1.0303	0.01536	0.4248:0.2864:0.1186:0.1703	.	310;340;310	B7ZL25;F5GXJ0;Q5ST30	.;.;SYVM_HUMAN	P	310;310;170;310;340	ENSP00000316092:T310P;ENSP00000394802:T310P;ENSP00000438200:T170P;ENSP00000403749:T310P;ENSP00000441000:T340P	ENSP00000316092:T310P	T	+	1	0	VARS2	30993505	0.000000	0.05858	0.280000	0.24747	0.533000	0.34776	0.207000	0.17395	0.887000	0.36136	0.459000	0.35465	ACC	VARS2	-	pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Valyl-tRNA_synthetase	ENSG00000137411		0.597	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VARS2	HGNC	protein_coding	OTTHUMT00000076566.2	190	0.52	1	A	NM_020442		30885526	30885526	+1	no_errors	ENST00000541562	ensembl	human	known	69_37n	missense	198	14.66	34	SNP	0.045	C
VAV1	7409	genome.wustl.edu	37	19	6828887	6828887	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:6828887T>G	ENST00000602142.1	+	13	1323	c.1241T>G	c.(1240-1242)gTg>gGg	p.V414G	VAV1_ENST00000599806.1_Missense_Mutation_p.V359G|VAV1_ENST00000304076.2_Missense_Mutation_p.V414G|VAV1_ENST00000539284.1_Missense_Mutation_p.V317G|VAV1_ENST00000596764.1_Missense_Mutation_p.V382G	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	414	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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						ATCACCTCGGTGGAACGGCGC	0.612																																						dbGAP											0													58.0	47.0	51.0					19																	6828887		2203	4300	6503	-	-	-	SO:0001583	missense	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.1241T>G	19.37:g.6828887T>G	ENSP00000472929:p.Val414Gly		B4DVK9|M0QXX6|Q15860	Missense_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.V414G	ENST00000602142.1	37	c.1241	CCDS12174.1	19	.	.	.	.	.	.	.	.	.	.	T	12.27	1.888148	0.33348	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.73897	-0.79;-0.79	5.25	2.68	0.31781	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.854700	0.10384	N	0.681187	T	0.58793	0.2147	N	0.19112	0.55	0.19945	N	0.999941	B;B;P;P	0.38280	0.133;0.196;0.474;0.625	B;B;B;B	0.40534	0.026;0.061;0.247;0.332	T	0.45323	-0.9269	10	0.22706	T	0.39	.	6.1572	0.20344	0.0:0.3399:0.0:0.6601	.	317;414;359;414	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	G	414;317	ENSP00000302269:V414G;ENSP00000443242:V317G	ENSP00000302269:V414G	V	+	2	0	VAV1	6779887	0.003000	0.15002	0.506000	0.27664	0.839000	0.47603	0.258000	0.18387	0.724000	0.32296	0.477000	0.44152	GTG	VAV1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000141968		0.612	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1	69	0.00	0	T			6828887	6828887	+1	no_errors	ENST00000304076	ensembl	human	known	69_37n	missense	37	13.95	6	SNP	0.026	G
VIM	7431	genome.wustl.edu	37	10	17272749	17272749	+	Intron	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:17272749A>C	ENST00000224237.5	+	2	769				VIM_ENST00000485947.1_3'UTR|VIM_ENST00000544301.1_Intron|VIM-AS1_ENST00000605833.1_RNA|RP11-124N14.3_ENST00000456355.1_RNA			P08670	VIME_HUMAN	vimentin						apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTGACCCCACCCAACACAA	0.512											OREG0020050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													57.0	60.0	59.0					10																	17272749		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.624+40A>C	10.37:g.17272749A>C		716	B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	RNA	SNP	-	NULL	ENST00000224237.5	37	NULL	CCDS7120.1	10																																																																																			VIM	-	-	ENSG00000026025		0.512	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIM	HGNC	protein_coding	OTTHUMT00000047015.1	118	0.00	0	A	NM_003380		17272749	17272749	+1	no_errors	ENST00000485947	ensembl	human	known	69_37n	rna	95	15.04	17	SNP	0.120	C
VCL	7414	genome.wustl.edu	37	10	75849804	75849804	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:75849804T>G	ENST00000211998.4	+	10	1294	c.1200T>G	c.(1198-1200)ggT>ggG	p.G400G	VCL_ENST00000372755.3_Silent_p.G400G|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	400	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ATCCAAATGGTGGACCGGAAG	0.443																																						dbGAP											0													118.0	110.0	113.0					10																	75849804		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1200T>G	10.37:g.75849804T>G			Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.G400	ENST00000211998.4	37	c.1200	CCDS7341.1	10																																																																																			VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.443	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		181	0.00	0	T	NM_003373, NM_014000		75849804	75849804	+1	no_errors	ENST00000211998	ensembl	human	known	69_37n	silent	116	18.18	26	SNP	0.998	G
VIT	5212	genome.wustl.edu	37	2	36994344	36994344	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:36994344A>C	ENST00000389975.3	+	7	897	c.595A>C	c.(595-597)Acc>Ccc	p.T199P	VIT_ENST00000379242.3_Missense_Mutation_p.T199P|VIT_ENST00000401530.1_Missense_Mutation_p.T199P|VIT_ENST00000404084.1_Missense_Mutation_p.T177P|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000379241.3_Missense_Mutation_p.T199P	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	199					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)				CACCCCCACCACCTTGCCAAG	0.582																																						dbGAP											0													80.0	68.0	72.0					2																	36994344		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.595A>C	2.37:g.36994344A>C	ENSP00000374625:p.Thr199Pro		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.T199P	ENST00000389975.3	37	c.595	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126244	0.37533	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T	0.71698	-0.56;-0.46;-0.54;-0.59;-0.52	5.55	-1.54	0.08584	.	0.585786	0.17759	N	0.162965	T	0.50922	0.1644	L	0.38175	1.15	0.09310	N	1	B;B;B;P	0.42337	0.162;0.003;0.0;0.776	B;B;B;B	0.40375	0.11;0.003;0.0;0.327	T	0.45775	-0.9238	10	0.41790	T	0.15	-0.3471	1.1213	0.01725	0.4472:0.1475:0.2627:0.1426	.	199;199;199;199	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	P	199;199;177;199;199	ENSP00000368544:T199P;ENSP00000374625:T199P;ENSP00000384154:T177P;ENSP00000368543:T199P;ENSP00000385658:T199P	ENSP00000368543:T199P	T	+	1	0	VIT	36847848	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-0.987000	0.03743	-0.518000	0.06452	0.528000	0.53228	ACC	VIT	-	NULL	ENSG00000205221		0.582	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		134	0.74	1	A			36994344	36994344	+1	no_errors	ENST00000379242	ensembl	human	known	69_37n	missense	92	18.58	21	SNP	0.000	C
VN1R2	317701	genome.wustl.edu	37	19	53762017	53762017	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:53762017A>C	ENST00000341702.3	+	1	473	c.389A>C	c.(388-390)cAc>cCc	p.H130P		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	130					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		ATTCTCAGGCACCTGACTGTA	0.378																																						dbGAP											0													86.0	90.0	88.0					19																	53762017		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.389A>C	19.37:g.53762017A>C	ENSP00000351244:p.His130Pro		A1L411|Q8TDU4	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_7TM_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam,prints_Vmron_rcpt_1	p.H130P	ENST00000341702.3	37	c.389	CCDS12862.1	19	.	.	.	.	.	.	.	.	.	.	A	13.30	2.195437	0.38806	.	.	ENSG00000196131	ENST00000341702	T	0.38722	1.12	2.94	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.54679	0.1873	M	0.91510	3.215	0.23751	N	0.996947	P	0.45078	0.85	P	0.49047	0.599	T	0.53436	-0.8439	9	0.87932	D	0	.	2.5677	0.04787	0.6368:0.0:0.1321:0.2311	.	130	Q8NFZ6	VN1R2_HUMAN	P	130	ENSP00000351244:H130P	ENSP00000351244:H130P	H	+	2	0	VN1R2	58453829	0.017000	0.18338	0.302000	0.25058	0.781000	0.44180	0.813000	0.27225	0.546000	0.28920	0.486000	0.48141	CAC	VN1R2	-	pfam_Vmron_rcpt_1,pfam_7TM_GPCR_Rhodpsn,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196131		0.378	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R2	HGNC	protein_coding	OTTHUMT00000464285.1	179	0.00	0	A	NM_173856		53762017	53762017	+1	no_errors	ENST00000341702	ensembl	human	known	69_37n	missense	175	15.71	33	SNP	0.863	C
VPS13D	55187	genome.wustl.edu	37	1	12338010	12338010	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:12338010A>C	ENST00000358136.3	+	19	4495	c.4365A>C	c.(4363-4365)ccA>ccC	p.P1455P	VPS13D_ENST00000356315.4_Silent_p.P1455P	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGTTTTGCCCACCTTCCGGGT	0.478																																						dbGAP											0													134.0	129.0	131.0					1																	12338010		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4365A>C	1.37:g.12338010A>C				Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.H278P	ENST00000358136.3	37	c.833	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	A	5.672	0.308636	0.10733	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.95	-6.43	0.01926	.	.	.	.	.	T	0.29256	0.0728	.	.	.	0.19300	N	0.999978	.	.	.	.	.	.	T	0.37731	-0.9693	4	.	.	.	.	10.1739	0.42927	0.1123:0.0:0.3811:0.5065	.	.	.	.	P	278	.	.	H	+	2	0	VPS13D	12260597	0.001000	0.12720	0.000000	0.03702	0.506000	0.33950	-0.183000	0.09712	-1.006000	0.03412	0.528000	0.53228	CAC	VPS13D	-	NULL	ENSG00000048707		0.478	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	102	0.00	0	A	NM_015378		12338010	12338010	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000011700	ensembl	human	novel	69_37n	missense	103	14.88	18	SNP	0.075	C
VTI1A	143187	genome.wustl.edu	37	10	114298039	114298039	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:114298039A>G	ENST00000393077.2	+	5	493	c.377A>G	c.(376-378)gAa>gGa	p.E126G	VTI1A_ENST00000432306.1_Missense_Mutation_p.E126G	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	126					intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNAP receptor activity (GO:0005484)		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GAGAGGCTGGAAAGGTCATCT	0.433			T	TCF7L2	colorectal																																	dbGAP		Dom	yes		10	10q25.2	143187	vesicle transport through interaction with t-SNAREs homolog 1A		E	0													79.0	85.0	83.0					10																	114298039		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017052	CCDS7575.2	10q25.2	2012-12-10	2012-12-10		ENSG00000151532	ENSG00000151532			17792	protein-coding gene	gene with protein product		614316	"""vesicle transport through interaction with t-SNAREs homolog 1A (yeast)"""			9446565	Standard	NM_145206		Approved	MVti1, Vti1a, Vti1-rp2	uc001kzz.3	Q96AJ9	OTTHUMG00000019063	ENST00000393077.2:c.377A>G	10.37:g.114298039A>G	ENSP00000376792:p.Glu126Gly		A2A307|B4E137|Q5W0D7	Missense_Mutation	SNP	pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom	p.E126G	ENST00000393077.2	37	c.377	CCDS7575.2	10	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723029	0.68959	.	.	ENSG00000151532	ENST00000393077;ENST00000432306	T;T	0.78246	-1.16;-1.16	5.86	4.74	0.60224	Target SNARE coiled-coil domain (1);	0.000000	0.85682	D	0.000000	D	0.86682	0.5991	M	0.76838	2.35	0.58432	D	0.999993	D;D	0.67145	0.977;0.996	D;D	0.72338	0.948;0.977	D	0.86955	0.2088	10	0.54805	T	0.06	-25.4349	11.973	0.53073	0.9326:0.0:0.0674:0.0	.	126;126	Q5W0D7;Q96AJ9	.;VTI1A_HUMAN	G	126	ENSP00000376792:E126G;ENSP00000395017:E126G	ENSP00000376792:E126G	E	+	2	0	VTI1A	114288029	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.611000	0.90905	1.163000	0.42636	0.528000	0.53228	GAA	VTI1A	-	smart_T_SNARE_dom	ENSG00000151532		0.433	VTI1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VTI1A	HGNC	protein_coding	OTTHUMT00000050397.2	190	0.52	1	A			114298039	114298039	+1	no_errors	ENST00000393077	ensembl	human	known	69_37n	missense	68	15.85	13	SNP	1.000	G
VWA3A	146177	genome.wustl.edu	37	16	22159573	22159573	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:22159573T>G	ENST00000389398.5	+	28	3026	c.2930T>G	c.(2929-2931)gTg>gGg	p.V977G	VWA3A_ENST00000563755.1_Missense_Mutation_p.V79G|VWA3A_ENST00000389397.4_Missense_Mutation_p.V79G	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	977	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTGCAGCAGGTGAAGACAGAG	0.572																																						dbGAP											0													63.0	64.0	63.0					16																	22159573		1974	4169	6143	-	-	-	SO:0001583	missense	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2930T>G	16.37:g.22159573T>G	ENSP00000374049:p.Val977Gly		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.V977G	ENST00000389398.5	37	c.2930	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	T	20.3	3.958636	0.74016	.	.	ENSG00000175267	ENST00000389398;ENST00000389397;ENST00000299840	T;T	0.08282	3.11;3.11	4.95	4.95	0.65309	von Willebrand factor, type A (3);	0.663232	0.14575	N	0.311260	T	0.26666	0.0652	M	0.77103	2.36	0.42876	D	0.994159	P;D	0.59357	0.93;0.985	P;P	0.60068	0.868;0.809	T	0.01127	-1.1443	10	0.62326	D	0.03	.	12.9155	0.58203	0.0:0.0:0.0:1.0	.	977;79	A6NCI4;A6NCI4-4	VWA3A_HUMAN;.	G	977;79;600	ENSP00000374049:V977G;ENSP00000374048:V79G	ENSP00000299840:V600G	V	+	2	0	VWA3A	22067074	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	5.990000	0.70595	1.998000	0.58463	0.529000	0.55759	GTG	VWA3A	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000175267		0.572	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	169	0.00	0	T			22159573	22159573	+1	no_errors	ENST00000389398	ensembl	human	known	69_37n	missense	268	12.38	38	SNP	1.000	G
WAS	7454	genome.wustl.edu	37	X	48543987	48543987	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:48543987A>C	ENST00000376701.4	+	3	400	c.325A>C	c.(325-327)Acc>Ccc	p.T109P	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	109	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TGTCTACTCCACCCCCACCCC	0.622			"""Mis, N, F, S"""			lymphoma																																dbGAP		X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Wiskott-Aldrich syndrome		L	0													75.0	51.0	59.0					X																	48543987		2202	4293	6495	-	-	-	SO:0001583	missense	0			AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.325A>C	X.37:g.48543987A>C	ENSP00000365891:p.Thr109Pro		Q9BU11|Q9UNJ9	Missense_Mutation	SNP	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.T109P	ENST00000376701.4	37	c.325	CCDS14303.1	X	.	.	.	.	.	.	.	.	.	.	A	9.923	1.212620	0.22289	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.98701	-5.08;-5.08	5.03	2.67	0.31697	EVH1 (3);Pleckstrin homology-type (1);	0.397385	0.25941	N	0.027309	D	0.93939	0.8060	N	0.14661	0.345	0.09310	N	1	B	0.27594	0.182	B	0.26094	0.066	D	0.88781	0.3271	10	0.44086	T	0.13	-6.5771	4.3661	0.11225	0.6329:0.0:0.3671:0.0	.	109	P42768	WASP_HUMAN	P	109	ENSP00000410537:T109P;ENSP00000365891:T109P	ENSP00000365891:T109P	T	+	1	0	WAS	48428931	0.000000	0.05858	0.964000	0.40570	0.965000	0.64279	0.126000	0.15769	0.608000	0.30000	0.378000	0.23410	ACC	WAS	-	pfam_EVH1,smart_EVH1,pfscan_EVH1	ENSG00000015285		0.622	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	WAS	HGNC	protein_coding	OTTHUMT00000083379.1	133	0.00	0	A	NM_000377		48543987	48543987	+1	no_errors	ENST00000376701	ensembl	human	known	69_37n	missense	134	16.15	26	SNP	0.001	C
WBP2	23558	genome.wustl.edu	37	17	73842839	73842839	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:73842839T>G	ENST00000591399.1	-	9	1186	c.762A>C	c.(760-762)ccA>ccC	p.P254P	WBP2_ENST00000585462.1_Silent_p.P232P|WBP2_ENST00000433525.2_Silent_p.P209P|WBP2_ENST00000590450.1_5'Flank|WBP2_ENST00000344296.4_Silent_p.P232P|UNC13D_ENST00000207549.4_5'Flank|UNC13D_ENST00000412096.2_5'Flank|WBP2_ENST00000590221.1_Silent_p.P250P|WBP2_ENST00000254806.3_Silent_p.P254P			Q969T9	WBP2_HUMAN	WW domain binding protein 2	254	Pro-rich.				cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TATCTTCCGGTGGGTAGTAGG	0.602																																						dbGAP											0													81.0	76.0	78.0					17																	73842839		2197	4293	6490	-	-	-	SO:0001819	synonymous_variant	0			U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.762A>C	17.37:g.73842839T>G			O95638	Missense_Mutation	SNP	pfam_WW-domain-binding,pfam_GRAM	p.T229P	ENST00000591399.1	37	c.685	CCDS11731.1	17	.	.	.	.	.	.	.	.	.	.	T	9.319	1.057441	0.19907	.	.	ENSG00000132471	ENST00000431190	.	.	.	3.87	-0.7	0.11273	.	.	.	.	.	T	0.43188	0.1236	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23368	-1.0190	4	.	.	.	-0.0111	3.6779	0.08299	0.2938:0.0:0.2651:0.4411	.	.	.	.	P	152	.	.	H	-	2	0	WBP2	71354434	0.963000	0.33076	0.983000	0.44433	0.966000	0.64601	0.048000	0.14078	-0.158000	0.11040	-0.648000	0.03929	CAC	WBP2	-	NULL	ENSG00000132471		0.602	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2	HGNC	protein_coding	OTTHUMT00000448862.1	262	0.37	1	T	NM_012478		73842839	73842839	-1	no_errors	ENST00000591831	ensembl	human	known	69_37n	missense	252	10.32	29	SNP	0.993	G
WBSCR28	135886	genome.wustl.edu	37	7	73280043	73280043	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:73280043A>C	ENST00000320531.2	+	3	674	c.638A>C	c.(637-639)cAc>cCc	p.H213P		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	213						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CTGGCCTCCCACCTGCTGCAG	0.617																																						dbGAP											0													143.0	153.0	149.0					7																	73280043		2183	4273	6456	-	-	-	SO:0001583	missense	0			BC030643	CCDS43597.1	7q11.23	2006-07-04			ENSG00000175877	ENSG00000175877			23018	protein-coding gene	gene with protein product		612547				8812460	Standard	NM_182504		Approved	MGC26719	uc003tzk.2	Q6UE05	OTTHUMG00000157243	ENST00000320531.2:c.638A>C	7.37:g.73280043A>C	ENSP00000316775:p.His213Pro		Q6UE04|Q8NHP4	Missense_Mutation	SNP	NULL	p.H213P	ENST00000320531.2	37	c.638	CCDS43597.1	7	.	.	.	.	.	.	.	.	.	.	A	19.53	3.845293	0.71603	.	.	ENSG00000175877	ENST00000320531	T	0.27557	1.66	4.15	4.15	0.48705	.	0.000000	0.41605	D	0.000845	T	0.40522	0.1120	L	0.36672	1.1	0.30092	N	0.808259	D	0.76494	0.999	D	0.65443	0.935	T	0.32613	-0.9900	10	0.87932	D	0	-16.0276	9.829	0.40930	1.0:0.0:0.0:0.0	.	213	Q6UE05	WBS28_HUMAN	P	213	ENSP00000316775:H213P	ENSP00000316775:H213P	H	+	2	0	WBSCR28	72917979	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.244000	0.32778	1.885000	0.54596	0.524000	0.50904	CAC	WBSCR28	-	NULL	ENSG00000175877		0.617	WBSCR28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR28	HGNC	protein_coding	OTTHUMT00000348130.1	128	0.76	1	A	NM_182504		73280043	73280043	+1	no_errors	ENST00000320531	ensembl	human	known	69_37n	missense	91	26.61	33	SNP	1.000	C
WDFY4	57705	genome.wustl.edu	37	10	49937536	49937536	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:49937536T>G	ENST00000325239.5	+	7	1058	c.1031T>G	c.(1030-1032)gTg>gGg	p.V344G	WDFY4_ENST00000413659.2_Missense_Mutation_p.V344G|WDFY4_ENST00000360890.2_Missense_Mutation_p.V344G	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	344						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CTTGGGCTGGTGGTGTGGCTG	0.557																																						dbGAP											0													129.0	121.0	123.0					10																	49937536		692	1591	2283	-	-	-	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.1031T>G	10.37:g.49937536T>G	ENSP00000320563:p.Val344Gly		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V344G	ENST00000325239.5	37	c.1031	CCDS44385.1	10	.	.	.	.	.	.	.	.	.	.	T	23.9	4.475672	0.84640	.	.	ENSG00000128815	ENST00000360890;ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	T;T;T	0.52754	0.65;3.44;3.44	5.76	5.76	0.90799	.	.	.	.	.	T	0.54271	0.1848	M	0.67953	2.075	0.52501	D	0.999953	D;D	0.56521	0.976;0.958	P;P	0.47864	0.559;0.466	T	0.60929	-0.7165	9	0.87932	D	0	.	14.1028	0.65068	0.0:0.0:0.0:1.0	.	344;344	Q6ZS81;Q6ZS81-2	WDFY4_HUMAN;.	G	344;353;344;344;344	ENSP00000354141:V344G;ENSP00000320563:V344G;ENSP00000403789:V344G	ENSP00000320563:V344G	V	+	2	0	WDFY4	49607542	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.333000	0.59285	2.324000	0.78689	0.533000	0.62120	GTG	WDFY4	-	superfamily_ARM-type_fold	ENSG00000128815		0.557	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		264	0.00	0	T	XM_033379		49937536	49937536	+1	no_errors	ENST00000325239	ensembl	human	known	69_37n	missense	137	13.75	22	SNP	1.000	G
WDFY4	57705	genome.wustl.edu	37	10	50174637	50174637	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:50174637A>C	ENST00000325239.5	+	54	8530	c.8503A>C	c.(8503-8505)Acc>Ccc	p.T2835P	WDFY4_ENST00000413659.2_3'UTR|WDFY4_ENST00000465910.1_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2835						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GGATGTCTCCACCCCCGTGAG	0.597																																						dbGAP											0													80.0	81.0	80.0					10																	50174637		692	1591	2283	-	-	-	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.8503A>C	10.37:g.50174637A>C	ENSP00000320563:p.Thr2835Pro		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T2835P	ENST00000325239.5	37	c.8503	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.815|2.815	-0.246129|-0.246129	0.05906|0.05906	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000312002|ENST00000426033;ENST00000325239;ENST00000544136	.|T	.|0.56941	.|0.43	5.47|5.47	-1.57|-1.57	0.08506|0.08506	.|.	.|1.194990	.|0.06024	.|N	.|0.651851	T|T	0.34716|0.34716	0.0907|0.0907	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;P	.|0.44877	.|0.01;0.845	.|B;B	.|0.41619	.|0.002;0.361	T|T	0.24870|0.24870	-1.0148|-1.0148	5|9	.|.	.|.	.|.	.|.	0.3129|0.3129	0.00291|0.00291	0.3232:0.1423:0.2584:0.276|0.3232:0.1423:0.2584:0.276	.|.	.|298;2835	.|B4DWY9;Q6ZS81	.|.;WDFY4_HUMAN	P|P	1925|2835;2835;298	.|ENSP00000320563:T2835P	.|.	H|T	+|+	2|1	0|0	WDFY4|WDFY4	49844643|49844643	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.123000|-0.123000	0.10611|0.10611	0.029000|0.029000	0.15352|0.15352	-0.297000|-0.297000	0.09499|0.09499	CAC|ACC	WDFY4	-	NULL	ENSG00000128815		0.597	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		112	0.88	1	A	XM_033379		50174637	50174637	+1	no_errors	ENST00000325239	ensembl	human	known	69_37n	missense	66	28.26	26	SNP	0.000	C
WDFY4	57705	genome.wustl.edu	37	10	50176984	50176984	+	Intron	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:50176984T>G	ENST00000325239.5	+	55	8611				WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000465910.1_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4							integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CCAGCTGCAGTGGGTGCTGTC	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.8585-125T>G	10.37:g.50176984T>G			B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	RNA	SNP	-	NULL	ENST00000325239.5	37	NULL	CCDS44385.1	10																																																																																			WDFY4	-	-	ENSG00000128815		0.597	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		49	0.00	0	T	XM_033379		50176984	50176984	+1	no_errors	ENST00000465910	ensembl	human	known	69_37n	rna	38	15.56	7	SNP	0.006	G
WDR27	253769	genome.wustl.edu	37	6	170068160	170068160	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:170068160T>G	ENST00000448612.1	-	5	687	c.578A>C	c.(577-579)cAc>cCc	p.H193P	WDR27_ENST00000423258.1_Intron|WDR27_ENST00000333572.6_Missense_Mutation_p.H193P|WDR27_ENST00000546525.1_5'Flank|WDR27_ENST00000420344.2_Intron	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	163						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGGGCCCAGGTGGCCCTGCAG	0.602																																						dbGAP											0													73.0	88.0	83.0					6																	170068160		2059	4193	6252	-	-	-	SO:0001583	missense	0			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.578A>C	6.37:g.170068160T>G	ENSP00000416289:p.His193Pro		A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H193P	ENST00000448612.1	37	c.578	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	T	18.94	3.730155	0.69074	.	.	ENSG00000184465	ENST00000448612;ENST00000333572	T;T	0.81163	-1.46;-1.46	5.25	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.89097	0.6618	M	0.92784	3.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90775	0.4675	10	0.87932	D	0	-21.5424	11.5571	0.50755	0.0:0.0:0.1497:0.8503	.	193;193	F2Z2U5;C9JGV0	.;.	P	193	ENSP00000416289:H193P;ENSP00000330265:H193P	ENSP00000330265:H193P	H	-	2	0	WDR27	169810085	1.000000	0.71417	0.313000	0.25210	0.852000	0.48524	3.774000	0.55341	0.821000	0.34540	0.533000	0.62120	CAC	WDR27	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000184465		0.602	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	166	0.59	1	T	NM_182552		170068160	170068160	-1	no_errors	ENST00000448612	ensembl	human	known	69_37n	missense	164	14.95	29	SNP	0.893	G
WDR37	22884	genome.wustl.edu	37	10	1142162	1142162	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:1142162A>C	ENST00000358220.1	+	9	846	c.702A>C	c.(700-702)acA>acC	p.T234T	WDR37_ENST00000263150.4_Silent_p.T234T|WDR37_ENST00000381329.1_Silent_p.T234T			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	234										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		AGCTGCCGACACCCCAGCCTG	0.478																																						dbGAP											0													129.0	111.0	117.0					10																	1142162		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.702A>C	10.37:g.1142162A>C			A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T234	ENST00000358220.1	37	c.702	CCDS7057.1	10																																																																																			WDR37	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000047056		0.478	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR37	HGNC	protein_coding	OTTHUMT00000046418.1	169	0.00	0	A	NM_014023		1142162	1142162	+1	no_errors	ENST00000263150	ensembl	human	known	69_37n	silent	118	14.49	20	SNP	0.057	C
WDR37	22884	genome.wustl.edu	37	10	1175216	1175216	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:1175216A>C	ENST00000358220.1	+	14	1561	c.1417A>C	c.(1417-1419)Acc>Ccc	p.T473P	WDR37_ENST00000263150.4_Missense_Mutation_p.T473P			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	473										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CAATCTGTTCACCTGTGGGTT	0.483																																						dbGAP											0													133.0	102.0	113.0					10																	1175216		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.1417A>C	10.37:g.1175216A>C	ENSP00000350954:p.Thr473Pro		A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T473P	ENST00000358220.1	37	c.1417	CCDS7057.1	10	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489684	0.84962	.	.	ENSG00000047056	ENST00000358220;ENST00000263150	T;T	0.01725	4.67;4.67	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.04318	0.0119	M	0.69823	2.125	0.80722	D	1	B;P	0.38250	0.079;0.624	B;B	0.37943	0.095;0.261	T	0.22695	-1.0209	10	0.87932	D	0	.	15.9957	0.80237	1.0:0.0:0.0:0.0	.	474;473	A8K976;Q9Y2I8	.;WDR37_HUMAN	P	473	ENSP00000350954:T473P;ENSP00000263150:T473P	ENSP00000263150:T473P	T	+	1	0	WDR37	1165216	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.205000	0.95048	2.174000	0.68829	0.459000	0.35465	ACC	WDR37	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000047056		0.483	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR37	HGNC	protein_coding	OTTHUMT00000046418.1	122	0.80	1	A	NM_014023		1175216	1175216	+1	no_errors	ENST00000263150	ensembl	human	known	69_37n	missense	73	18.89	17	SNP	1.000	C
WDR53	348793	genome.wustl.edu	37	3	196288326	196288326	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:196288326A>C	ENST00000332629.5	-	3	588	c.21T>G	c.(19-21)ggT>ggG	p.G7G	WDR53_ENST00000433160.1_Intron|WDR53_ENST00000429115.1_Intron	NM_182627.1	NP_872433.1	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	7										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	13	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		AAGAATGCCCACCCGTCCACT	0.522																																						dbGAP											0													58.0	60.0	59.0					3																	196288326		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			BC054030	CCDS3318.1	3q29	2013-01-09			ENSG00000185798	ENSG00000185798		"""WD repeat domain containing"""	28786	protein-coding gene	gene with protein product		615110				12477932	Standard	NM_182627		Approved	MGC64882, MGC12928	uc003fwt.3	Q7Z5U6	OTTHUMG00000155572	ENST00000332629.5:c.21T>G	3.37:g.196288326A>C			A0MNP1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G7	ENST00000332629.5	37	c.21	CCDS3318.1	3																																																																																			WDR53	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000185798		0.522	WDR53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR53	HGNC	protein_coding	OTTHUMT00000340689.1	124	0.00	0	A	NM_182627		196288326	196288326	-1	no_errors	ENST00000332629	ensembl	human	known	69_37n	silent	93	18.42	21	SNP	0.132	C
WDR59	79726	genome.wustl.edu	37	16	74972100	74972100	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:74972100T>G	ENST00000262144.6	-	8	729	c.599A>C	c.(598-600)cAc>cCc	p.H200P		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	200										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCTGTCTGGGTGCCAGTCCAG	0.507																																						dbGAP											0													162.0	147.0	152.0					16																	74972100		2198	4300	6498	-	-	-	SO:0001583	missense	0			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.599A>C	16.37:g.74972100T>G	ENSP00000262144:p.His200Pro		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H200P	ENST00000262144.6	37	c.599	CCDS32488.1	16	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601888	0.66445	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.71461	-0.57	5.6	5.6	0.85130	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.098783	0.64402	D	0.000002	D	0.85414	0.5691	M	0.84683	2.71	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.83275	0.994;0.996	D	0.87015	0.2125	10	0.52906	T	0.07	-11.4612	15.4421	0.75190	0.0:0.0:0.0:1.0	.	200;200	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	P	200;179	ENSP00000262144:H200P	ENSP00000262144:H200P	H	-	2	0	WDR59	73529601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.680000	0.84062	2.121000	0.65114	0.533000	0.62120	CAC	WDR59	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000103091		0.507	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3	222	0.00	0	T	NM_030581		74972100	74972100	-1	no_errors	ENST00000262144	ensembl	human	known	69_37n	missense	171	12.69	25	SNP	1.000	G
WDR6	11180	genome.wustl.edu	37	3	49049680	49049680	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:49049680T>G	ENST00000608424.1	+	2	752	c.713T>G	c.(712-714)gTg>gGg	p.V238G	WDR6_ENST00000395474.3_Missense_Mutation_p.V268G|WDR6_ENST00000448293.1_Missense_Mutation_p.V187G|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_3'UTR			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	238					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)		ATCTGGAAGGTGGGCGACCTG	0.552																																						dbGAP											0													90.0	94.0	93.0					3																	49049680		2203	4300	6503	-	-	-	SO:0001583	missense	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.713T>G	3.37:g.49049680T>G	ENSP00000477389:p.Val238Gly		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V268G	ENST00000608424.1	37	c.803		3	.	.	.	.	.	.	.	.	.	.	T	18.84	3.710274	0.68730	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000448293	T;T;T	0.72051	-0.62;-0.62;-0.05	5.32	4.17	0.49024	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.125659	0.52532	D	0.000066	D	0.82323	0.5012	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.71414	0.973;0.942;0.942	T	0.83113	-0.0122	10	0.66056	D	0.02	-23.1373	10.2942	0.43613	0.0:0.0794:0.0:0.9206	.	109;238;187	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	G	268;270;187	ENSP00000378857:V268G;ENSP00000387692:V270G;ENSP00000413432:V187G	ENSP00000378857:V268G	V	+	2	0	WDR6	49024684	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.674000	0.68117	0.976000	0.38417	0.459000	0.35465	GTG	WDR6	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000178252		0.552	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	99	0.99	1	T			49049680	49049680	+1	no_errors	ENST00000395474	ensembl	human	known	69_37n	missense	63	23.17	19	SNP	1.000	G
WDR74	54663	genome.wustl.edu	37	11	62603236	62603236	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:62603236A>C	ENST00000525239.1	-	6	984	c.447T>G	c.(445-447)ggT>ggG	p.G149G	RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000278856.4_Silent_p.G149G|RP11-727F15.9_ENST00000535867.1_RNA|WDR74_ENST00000529106.1_Silent_p.G149G|WDR74_ENST00000525752.1_Silent_p.G92G|WDR74_ENST00000311713.7_Silent_p.G149G			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	149					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TCTCTTTCCCACCTGTGGCAA	0.542																																						dbGAP											0													50.0	53.0	52.0					11																	62603236		1947	4142	6089	-	-	-	SO:0001819	synonymous_variant	0				CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.447T>G	11.37:g.62603236A>C			A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.G149	ENST00000525239.1	37	c.447	CCDS44630.1	11																																																																																			WDR74	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000133316		0.542	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR74	HGNC	protein_coding	OTTHUMT00000395678.1	144	0.00	0	A	NM_018093		62603236	62603236	-1	no_errors	ENST00000278856	ensembl	human	known	69_37n	silent	84	22.22	24	SNP	0.928	C
WDR75	84128	genome.wustl.edu	37	2	190306223	190306223	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:190306223T>G	ENST00000314761.4	+	1	65	c.5T>G	c.(4-6)gTg>gGg	p.V2G		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	2						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			GCAAAGATGGTGGAGGAGGAG	0.567																																						dbGAP											0													88.0	67.0	74.0					2																	190306223		2200	4293	6493	-	-	-	SO:0001583	missense	0			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.5T>G	2.37:g.190306223T>G	ENSP00000314193:p.Val2Gly		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V2G	ENST00000314761.4	37	c.5	CCDS2298.1	2	.	.	.	.	.	.	.	.	.	.	T	10.19	1.283172	0.23392	.	.	ENSG00000115368	ENST00000314761	T	0.64438	-0.1	5.29	-0.116	0.13555	.	0.562596	0.17725	N	0.164115	T	0.47857	0.1468	L	0.50333	1.59	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.38499	-0.9658	10	0.87932	D	0	-2.7014	1.9256	0.03316	0.2762:0.0775:0.1437:0.5026	.	2	Q8IWA0	WDR75_HUMAN	G	2	ENSP00000314193:V2G	ENSP00000314193:V2G	V	+	2	0	WDR75	190014468	1.000000	0.71417	0.996000	0.52242	0.074000	0.17049	1.277000	0.33167	-0.146000	0.11274	-0.472000	0.04984	GTG	WDR75	-	NULL	ENSG00000115368		0.567	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	HGNC	protein_coding	OTTHUMT00000255913.1	121	0.00	0	T	NM_032168		190306223	190306223	+1	no_errors	ENST00000314761	ensembl	human	known	69_37n	missense	97	13.27	15	SNP	0.998	G
WDR90	197335	genome.wustl.edu	37	16	701847	701847	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:701847A>C	ENST00000293879.4	+	9	861	c.861A>C	c.(859-861)gcA>gcC	p.A287A	AL022341.3_ENST00000455294.1_RNA|WDR90_ENST00000549091.1_Silent_p.A287A			Q96KV7	WDR90_HUMAN	WD repeat domain 90	287										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCGCCTTGGCACCCAGGCCCT	0.682																																						dbGAP											0													23.0	29.0	27.0					16																	701847		2105	4232	6337	-	-	-	SO:0001819	synonymous_variant	0			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.861A>C	16.37:g.701847A>C			Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A287	ENST00000293879.4	37	c.861	CCDS42092.1	16																																																																																			WDR90	-	NULL	ENSG00000161996		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	54	0.00	0	A	NM_145294		701847	701847	+1	no_errors	ENST00000549091	ensembl	human	novel	69_37n	silent	42	17.65	9	SNP	0.000	C
WHAMM	123720	genome.wustl.edu	37	15	83502038	83502038	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:83502038T>G	ENST00000286760.4	+	10	2279	c.2180T>G	c.(2179-2181)gTg>gGg	p.V727G		NM_001080435.1	NP_001073904.1	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules	727	Mediates actin nucleation. {ECO:0000269|PubMed:18614018}.|WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin filament organization (GO:0007015)|actin filament reorganization (GO:0090527)|ER to Golgi vesicle-mediated transport (GO:0006888)|focal adhesion assembly (GO:0048041)|lamellipodium assembly (GO:0030032)|membrane tubulation (GO:0097320)|positive regulation of actin nucleation (GO:0051127)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|Golgi membrane (GO:0000139)	Arp2/3 complex binding (GO:0071933)|GTP-Rho binding (GO:0017049)|microtubule binding (GO:0008017)			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						CTCCGGAAGGTGGAAGTGCCG	0.498																																						dbGAP											0													63.0	62.0	62.0					15																	83502038		1986	4146	6132	-	-	-	SO:0001583	missense	0			AK126887	CCDS45333.1	15q25.2	2009-02-18	2009-02-18	2009-02-18	ENSG00000156232	ENSG00000156232			30493	protein-coding gene	gene with protein product		612393	"""WAS protein homology region 2 domain containing 1"""	WHDC1		11853319, 18226259, 18614018, 18812086	Standard	XM_005272422		Approved	KIAA1971	uc002bje.3	Q8TF30		ENST00000286760.4:c.2180T>G	15.37:g.83502038T>G	ENSP00000286760:p.Val727Gly		Q8N1J9	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_WH2_dom	p.V727G	ENST00000286760.4	37	c.2180	CCDS45333.1	15	.	.	.	.	.	.	.	.	.	.	T	17.53	3.413416	0.62511	.	.	ENSG00000156232	ENST00000286760	T	0.37058	1.22	5.24	-10.5	0.00291	.	0.631279	0.15406	N	0.264051	T	0.37237	0.0996	M	0.76574	2.34	0.36855	D	0.888084	P	0.48294	0.908	P	0.46543	0.52	T	0.69450	-0.5142	10	0.87932	D	0	.	14.712	0.69241	0.0:0.102:0.0828:0.8152	.	727	Q8TF30	WHAMM_HUMAN	G	727	ENSP00000286760:V727G	ENSP00000286760:V727G	V	+	2	0	WHAMM	81299092	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.775000	0.04679	-1.681000	0.01448	-0.385000	0.06624	GTG	WHAMM	-	NULL	ENSG00000156232		0.498	WHAMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHAMM	HGNC	protein_coding	OTTHUMT00000418463.1	100	0.00	0	T			83502038	83502038	+1	no_errors	ENST00000286760	ensembl	human	known	69_37n	missense	77	16.30	15	SNP	0.000	G
WISP2	8839	genome.wustl.edu	37	20	43355835	43355835	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:43355835A>C	ENST00000372868.2	+	5	983	c.640A>C	c.(640-642)Acc>Ccc	p.T214P	WISP2_ENST00000190983.4_Missense_Mutation_p.T214P|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Silent_p.P131P|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	214	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				GGGCATGGCCACCCGGGTGTC	0.672																																						dbGAP											0													47.0	47.0	47.0					20																	43355835		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.640A>C	20.37:g.43355835A>C	ENSP00000361959:p.Thr214Pro		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.T214P	ENST00000372868.2	37	c.640	CCDS13336.1	20	.	.	.	.	.	.	.	.	.	.	A	16.86	3.238557	0.58886	.	.	ENSG00000064205	ENST00000372868;ENST00000190983	T;T	0.55930	0.49;0.49	4.05	4.05	0.47172	.	0.393532	0.28349	N	0.015668	T	0.73659	0.3615	M	0.92923	3.36	0.40653	D	0.982055	D	0.89917	1.0	D	0.77557	0.99	T	0.76884	-0.2794	10	0.72032	D	0.01	-29.4046	5.2777	0.15659	0.7263:0.1809:0.0928:0.0	.	214	O76076	WISP2_HUMAN	P	214	ENSP00000361959:T214P;ENSP00000190983:T214P	ENSP00000190983:T214P	T	+	1	0	WISP2	42789249	1.000000	0.71417	0.996000	0.52242	0.603000	0.37013	4.807000	0.62576	1.700000	0.51204	0.459000	0.35465	ACC	WISP2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000064205		0.672	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WISP2	HGNC	protein_coding	OTTHUMT00000127824.1	28	0.00	0	A	NM_003881		43355835	43355835	+1	no_errors	ENST00000190983	ensembl	human	known	69_37n	missense	50	26.09	18	SNP	1.000	C
WIZ	58525	genome.wustl.edu	37	19	15547671	15547671	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:15547671T>G	ENST00000389282.4	-	4	2755	c.2542A>C	c.(2542-2544)Acg>Ccg	p.T848P	WIZ_ENST00000263381.7_Missense_Mutation_p.T159P			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	848					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						AAGGGCACCGTGAGAGGTAAG	0.706																																						dbGAP											0													21.0	25.0	23.0					19																	15547671		1882	4105	5987	-	-	-	SO:0001583	missense	0			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.2542A>C	19.37:g.15547671T>G	ENSP00000373933:p.Thr848Pro		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T848P	ENST00000389282.4	37	c.2542		19	.	.	.	.	.	.	.	.	.	.	T	9.282	1.048487	0.19827	.	.	ENSG00000011451	ENST00000389282;ENST00000263381	T	0.02812	4.15	4.26	0.643	0.17770	.	0.980542	0.08350	N	0.959457	T	0.02267	0.0070	.	.	.	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.41197	-0.9522	9	0.30854	T	0.27	-3.1173	3.7006	0.08380	0.1764:0.2231:0.0:0.6005	.	159	O95785-2	.	P	848;159	ENSP00000373933:T848P	ENSP00000263381:T159P	T	-	1	0	WIZ	15408671	0.056000	0.20664	0.971000	0.41717	0.734000	0.41952	0.141000	0.16076	0.207000	0.20607	0.369000	0.22263	ACG	WIZ	-	NULL	ENSG00000011451		0.706	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		39	0.00	0	T	NM_021241		15547671	15547671	-1	no_errors	ENST00000389282	ensembl	human	known	69_37n	missense	27	18.18	6	SNP	0.712	G
WNK1	65125	genome.wustl.edu	37	12	1017844	1017844	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:1017844A>C	ENST00000315939.6	+	28	7678	c.7035A>C	c.(7033-7035)ccA>ccC	p.P2345P	WNK1_ENST00000537687.1_Silent_p.P2605P|WNK1_ENST00000340908.4_Silent_p.P1938P|WNK1_ENST00000535572.1_Silent_p.P2097P|WNK1_ENST00000530271.2_Silent_p.P2843P	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2345					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GCCCAGCACCACAGCCACTTG	0.557																																					Colon(19;451 567 6672 12618 28860)	dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.7035A>C	12.37:g.1017844A>C			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P2843	ENST00000315939.6	37	c.8529	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.557	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	73	0.00	0	A	NM_018979		1017844	1017844	+1	no_errors	ENST00000530271	ensembl	human	known	69_37n	silent	67	26.37	24	SNP	0.997	C
WNT11	7481	genome.wustl.edu	37	11	75898156	75898156	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:75898156T>G	ENST00000322563.3	-	5	1142	c.1018A>C	c.(1018-1020)Acc>Ccc	p.T340P		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	340					adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|bone mineralization (GO:0030282)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|cloacal septation (GO:0060197)|embryonic skeletal system development (GO:0048706)|lung-associated mesenchyme development (GO:0060484)|mesonephric duct development (GO:0072177)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of fibroblast growth factor production (GO:0090272)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of transcription, DNA-templated (GO:0045892)|neuroendocrine cell differentiation (GO:0061101)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway (GO:0035567)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta2 production (GO:0032915)|protein localization to cell surface (GO:0034394)|protein phosphorylation (GO:0006468)|response to nutrient levels (GO:0031667)|tight junction assembly (GO:0070830)|ureteric bud morphogenesis (GO:0060675)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|protein kinase activator activity (GO:0030295)|Ras GTPase activator activity (GO:0005099)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CTGCGGCAGGTGACGTAGCAG	0.642																																						dbGAP											0													132.0	95.0	107.0					11																	75898156		2200	4292	6492	-	-	-	SO:0001583	missense	0			Y12692	CCDS8242.1	11q13.5	2008-02-05			ENSG00000085741	ENSG00000085741		"""Wingless-type MMTV integration sites"""	12776	protein-coding gene	gene with protein product		603699				9757009	Standard	NM_004626		Approved		uc001oxe.3	O96014	OTTHUMG00000165264	ENST00000322563.3:c.1018A>C	11.37:g.75898156T>G	ENSP00000325526:p.Thr340Pro		B2R8Z6|Q14DE8|Q8WZ98	Missense_Mutation	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.T340P	ENST00000322563.3	37	c.1018	CCDS8242.1	11	.	.	.	.	.	.	.	.	.	.	T	24.6	4.547481	0.86022	.	.	ENSG00000085741	ENST00000322563	T	0.76578	-1.03	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.85605	0.5735	M	0.84082	2.675	0.80722	D	1	D	0.60575	0.988	P	0.56343	0.796	D	0.87628	0.2514	10	0.56958	D	0.05	.	13.9141	0.63885	0.0:0.0:0.0:1.0	.	340	O96014	WNT11_HUMAN	P	340	ENSP00000325526:T340P	ENSP00000325526:T340P	T	-	1	0	WNT11	75575804	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	5.006000	0.63978	2.033000	0.60031	0.254000	0.18369	ACC	WNT11	-	pfam_Wnt,smart_Wnt	ENSG00000085741		0.642	WNT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT11	HGNC	protein_coding	OTTHUMT00000383083.1	106	0.00	0	T	NM_004626		75898156	75898156	-1	no_errors	ENST00000322563	ensembl	human	known	69_37n	missense	40	35.48	22	SNP	1.000	G
WWC3	55841	genome.wustl.edu	37	X	10102555	10102555	+	Silent	SNP	A	A	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:10102555A>G	ENST00000380861.4	+	19	3073	c.2682A>G	c.(2680-2682)cgA>cgG	p.R894R	WWC3_ENST00000454666.1_Silent_p.R894R	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	894					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						GCCGGGCCCGAGGGTCGCCTT	0.557																																						dbGAP											0													107.0	107.0	107.0					X																	10102555		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.2682A>G	X.37:g.10102555A>G			A8KA96|Q659C1|Q9BTQ1	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R894	ENST00000380861.4	37	c.2682	CCDS14136.1	X																																																																																			WWC3	-	NULL	ENSG00000047644		0.557	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWC3	HGNC	protein_coding	OTTHUMT00000055725.1	159	0.00	0	A	NM_015691		10102555	10102555	+1	no_errors	ENST00000380861	ensembl	human	known	69_37n	silent	143	10.49	17	SNP	0.221	G
XPO4	64328	genome.wustl.edu	37	13	21361137	21361137	+	Silent	SNP	G	G	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr13:21361137G>C	ENST00000255305.6	-	22	3296	c.3225C>G	c.(3223-3225)ggC>ggG	p.G1075G	XPO4_ENST00000400602.2_Silent_p.G1075G			Q9C0E2	XPO4_HUMAN	exportin 4	1075					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGAAAGCTTCGCCAGCCGCAG	0.408																																						dbGAP											0													39.0	49.0	46.0					13																	21361137		1910	4114	6024	-	-	-	SO:0001819	synonymous_variant	0			AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.3225C>G	13.37:g.21361137G>C			Q5VUZ5|Q8N3V6|Q9H934	Silent	SNP	superfamily_ARM-type_fold	p.G1075	ENST00000255305.6	37	c.3225	CCDS41872.1	13																																																																																			XPO4	-	superfamily_ARM-type_fold	ENSG00000132953		0.408	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	XPO4	HGNC	protein_coding	OTTHUMT00000044096.1	234	0.84	2	G	NM_022459		21361137	21361137	-1	no_errors	ENST00000255305	ensembl	human	known	69_37n	silent	109	19.85	27	SNP	0.009	C
XRCC1	7515	genome.wustl.edu	37	19	44056989	44056989	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:44056989T>G	ENST00000262887.5	-	8	1330	c.783A>C	c.(781-783)ccA>ccC	p.P261P	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Silent_p.P230P			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	261					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				GCTGGGCTGGTGGTTTGCTGG	0.547								Other BER factors																														dbGAP											0													151.0	154.0	153.0					19																	44056989		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.783A>C	19.37:g.44056989T>G			Q6IBS4|Q9HCB1	Silent	SNP	pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.P261	ENST00000262887.5	37	c.783	CCDS12624.1	19																																																																																			XRCC1	-	NULL	ENSG00000073050		0.547	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC1	HGNC	protein_coding	OTTHUMT00000463194.1	350	0.28	1	T	NM_006297		44056989	44056989	-1	no_errors	ENST00000262887	ensembl	human	known	69_37n	silent	397	12.69	58	SNP	0.223	G
XRCC1	7515	genome.wustl.edu	37	19	44057132	44057132	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:44057132A>C	ENST00000262887.5	-	7	1259		c.e7+1		L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Splice_Site			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1						base-excision repair (GO:0006284)|DNA repair (GO:0006281)|hippocampus development (GO:0021766)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to organic substance (GO:0010033)|single strand break repair (GO:0000012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TGATGATTTCACCTTGGAGGT	0.592								Other BER factors																														dbGAP											0													54.0	53.0	53.0					19																	44057132		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			M36089	CCDS12624.1	19q13.2	2014-09-17				ENSG00000073050			12828	protein-coding gene	gene with protein product		194360		RCC		2247054	Standard	NM_006297		Approved		uc002owt.2	P18887		ENST00000262887.5:c.711+1T>G	19.37:g.44057132A>C			Q6IBS4|Q9HCB1	Splice_Site	SNP	-	e7+2	ENST00000262887.5	37	c.711+2	CCDS12624.1	19	.	.	.	.	.	.	.	.	.	.	A	11.31	1.600953	0.28534	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982;ENST00000538738	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0156	0.47687	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XRCC1	48748972	1.000000	0.71417	0.998000	0.56505	0.145000	0.21501	2.403000	0.44530	2.173000	0.68751	0.533000	0.62120	.	XRCC1	-	-	ENSG00000073050		0.592	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRCC1	HGNC	protein_coding	OTTHUMT00000463194.1	204	0.00	0	A	NM_006297	Intron	44057132	44057132	-1	no_errors	ENST00000262887	ensembl	human	known	69_37n	splice_site	169	12.37	24	SNP	1.000	C
YIF1A	10897	genome.wustl.edu	37	11	66055553	66055553	+	Splice_Site	SNP	T	T	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:66055553T>C	ENST00000376901.4	-	2	426	c.242A>G	c.(241-243)gAg>gGg	p.E81G	YIF1A_ENST00000526497.1_5'Flank|YIF1A_ENST00000359461.6_Splice_Site_p.E81G|YIF1A_ENST00000471387.2_Intron|YIF1A_ENST00000496746.1_5'Flank	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	81					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)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						AGGCCACACCTCCTTGTGCAC	0.602																																						dbGAP											0													135.0	142.0	140.0					11																	66055553		2200	4295	6495	-	-	-	SO:0001630	splice_region_variant	0			AF004876	CCDS8132.1, CCDS73325.1	11q13	2009-01-05	2005-06-07	2005-06-07	ENSG00000174851	ENSG00000174851			16688	protein-coding gene	gene with protein product		611484	"""Yip1 interacting factor homolog (S. cerevisiae)"""	YIF1		8824393, 10970842, 18718466	Standard	NM_020470		Approved	YIF1P, 54TM, FinGER7	uc001ohk.4	O95070	OTTHUMG00000102079	ENST00000376901.4:c.243+1A>G	11.37:g.66055553T>C			A6NM00|Q96G83|Q9BVD0	Missense_Mutation	SNP	pfam_Hrf1,pfam_Yip1	p.E81G	ENST00000376901.4	37	c.242	CCDS8132.1	11	.	.	.	.	.	.	.	.	.	.	T	26.9	4.784986	0.90282	.	.	ENSG00000174851	ENST00000359461;ENST00000376901;ENST00000376904;ENST00000431556;ENST00000528575	T;T;T;T	0.47528	0.85;0.86;0.86;0.84	5.96	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.48352	0.1495	L	0.31065	0.9	0.54753	D	0.999986	P;P	0.46064	0.872;0.8	P;P	0.53988	0.739;0.561	T	0.41610	-0.9499	10	0.39692	T	0.17	-16.8945	12.4988	0.55944	0.0:0.0:0.1392:0.8608	.	81;81	E9PIZ0;O95070	.;YIF1A_HUMAN	G	81	ENSP00000352437:E81G;ENSP00000366098:E81G;ENSP00000401953:E81G;ENSP00000431935:E81G	ENSP00000352437:E81G	E	-	2	0	YIF1A	65812129	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.910000	0.75741	2.282000	0.76494	0.533000	0.62120	GAG	YIF1A	-	pfam_Hrf1	ENSG00000174851		0.602	YIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1A	HGNC	protein_coding	OTTHUMT00000219903.3	85	0.00	0	T	NM_020470	Missense_Mutation	66055553	66055553	-1	no_errors	ENST00000376901	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	1.000	C
YIF1B	90522	genome.wustl.edu	37	19	38798235	38798235	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:38798235A>C	ENST00000339413.6	-	6	741		c.e6+1		YIF1B_ENST00000592246.1_Splice_Site|YIF1B_ENST00000392124.3_Splice_Site|YIF1B_ENST00000592694.1_Splice_Site|YIF1B_ENST00000337679.8_Splice_Site|YIF1B_ENST00000591784.1_Splice_Site|YIF1B_ENST00000329420.8_Splice_Site|YIF1B_ENST00000591755.1_Splice_Site|YIF1B_ENST00000587361.1_5'Flank	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGGGGTACTCACCCGACATAT	0.627																																						dbGAP											0													76.0	71.0	72.0					19																	38798235		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.695+1T>G	19.37:g.38798235A>C			H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Splice_Site	SNP	-	e6+2	ENST00000339413.6	37	c.695+2	CCDS33010.1	19	.	.	.	.	.	.	.	.	.	.	A	13.30	2.195281	0.38806	.	.	ENSG00000167645	ENST00000339413;ENST00000329420;ENST00000392124;ENST00000337679	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9198	0.63923	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YIF1B	43490075	1.000000	0.71417	1.000000	0.80357	0.128000	0.20619	6.874000	0.75546	2.168000	0.68352	0.477000	0.44152	.	YIF1B	-	-	ENSG00000167645		0.627	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIF1B	HGNC	protein_coding	OTTHUMT00000460511.1	101	0.94	1	A	NM_033557	Intron	38798235	38798235	-1	no_errors	ENST00000339413	ensembl	human	known	69_37n	splice_site	48	20.97	13	SNP	1.000	C
YLPM1	56252	genome.wustl.edu	37	14	75279388	75279388	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:75279388A>C	ENST00000552421.1	+	10	3411	c.3287A>C	c.(3286-3288)cAc>cCc	p.H1096P	YLPM1_ENST00000325680.7_Missense_Mutation_p.H1802P|YLPM1_ENST00000238571.3_Missense_Mutation_p.H1607P			P49750	YLPM1_HUMAN	YLP motif containing 1	1607	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCACTGAGCCACCAGCCTCCT	0.502																																						dbGAP											0													37.0	41.0	40.0					14																	75279388		2012	4192	6204	-	-	-	SO:0001583	missense	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.3287A>C	14.37:g.75279388A>C	ENSP00000447921:p.His1096Pro		P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.H1802P	ENST00000552421.1	37	c.5405		14	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506982	0.44558	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680;ENST00000547879	.	.	.	5.89	5.89	0.94794	.	0.084411	0.51477	D	0.000086	T	0.35158	0.0922	N	0.19112	0.55	0.38196	D	0.940059	B;B	0.20261	0.026;0.043	B;B	0.23419	0.029;0.046	T	0.32771	-0.9894	9	0.29301	T	0.29	-10.3991	7.2542	0.26166	0.8792:0.0:0.1208:0.0	.	1607;1802	P49750-3;P49750-4	.;.	P	1096;1802;1607;1515;211	.	ENSP00000238571:H1607P	H	+	2	0	YLPM1	74349141	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.583000	0.60964	2.256000	0.74724	0.528000	0.53228	CAC	YLPM1	-	NULL	ENSG00000119596		0.502	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	137	0.72	1	A	NM_019589		75279388	75279388	+1	no_errors	ENST00000325680	ensembl	human	known	69_37n	missense	68	17.07	14	SNP	1.000	C
ZADH2	284273	genome.wustl.edu	37	18	72914130	72914130	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:72914130T>G	ENST00000322342.3	-	2	664	c.375A>C	c.(373-375)gcA>gcC	p.A125A	ZADH2_ENST00000537114.2_Silent_p.A2A	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	125						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		AAGAACCAGGTGCCATGTAAG	0.542																																						dbGAP											0													171.0	170.0	170.0					18																	72914130		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.375A>C	18.37:g.72914130T>G			A8KA15|B4DZ91	Silent	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER	p.A125	ENST00000322342.3	37	c.375	CCDS12008.1	18																																																																																			ZADH2	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000180011		0.542	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZADH2	HGNC	protein_coding	OTTHUMT00000256332.1	85	0.00	0	T	NM_175907		72914130	72914130	-1	no_errors	ENST00000322342	ensembl	human	known	69_37n	silent	47	15.79	9	SNP	0.000	G
ZAN	7455	genome.wustl.edu	37	7	100350750	100350750	+	RNA	SNP	A	A	C	rs202171073		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr7:100350750A>C	ENST00000348028.3	+	0	3187				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCCAGCCCCACAGCCACTGG	0.562																																						dbGAP											0													83.0	103.0	97.0					7																	100350750		1935	4122	6057	-	-	-			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350750A>C			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom	p.T1008P	ENST00000348028.3	37	c.3022		7	.	.	.	.	.	.	.	.	.	.	A	12.20	1.865273	0.32977	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.71103	-0.54;-0.54;-0.54	3.39	-3.56	0.04626	.	.	.	.	.	T	0.66268	0.2772	L	0.27053	0.805	0.09310	N	0.999998	D;D	0.71674	0.998;0.997	D;P	0.66351	0.943;0.829	T	0.57493	-0.7802	9	0.39692	T	0.17	.	4.9787	0.14153	0.5915:0.1504:0.2581:0.0	.	1008;1008	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	1008	ENSP00000445943:T1008P;ENSP00000445091:T1008P;ENSP00000444427:T1008P	ENSP00000423579:T1008P	T	+	1	0	ZAN	100188686	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.076000	0.11412	-0.682000	0.05197	-0.436000	0.05848	ACA	ZAN	-	NULL	ENSG00000146839		0.562	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	412	0.96	4	A	NM_003386		100350750	100350750	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	missense	320	22.65	94	SNP	0.000	C
ZBTB17	7709	genome.wustl.edu	37	1	16271688	16271688	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:16271688A>C	ENST00000375743.4	-	7	903	c.671T>G	c.(670-672)gTg>gGg	p.V224G	ZBTB17_ENST00000375733.2_Missense_Mutation_p.V224G|ZBTB17_ENST00000479282.1_5'Flank|ZBTB17_ENST00000537142.1_Missense_Mutation_p.V142G|ZBTB17_ENST00000448462.2_Missense_Mutation_p.V161G	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	224					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|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;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGGGCTCCACCTCCATTTC	0.627																																						dbGAP											0													61.0	51.0	54.0					1																	16271688		2148	4232	6380	-	-	-	SO:0001583	missense	0			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.671T>G	1.37:g.16271688A>C	ENSP00000364895:p.Val224Gly		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V224G	ENST00000375743.4	37	c.671	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.941673	0.34283	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000448462	T;T;T;T	0.12774	2.66;2.65;2.89;2.88	5.37	2.91	0.33838	.	0.729485	0.12722	N	0.444601	T	0.20740	0.0499	L	0.27053	0.805	0.58432	D	0.999995	D;D;B;B;B;B	0.61697	0.985;0.99;0.023;0.112;0.296;0.005	P;D;B;B;B;B	0.71870	0.471;0.975;0.013;0.019;0.046;0.004	T	0.04255	-1.0965	10	0.72032	D	0.01	.	7.2078	0.25917	0.7399:0.1364:0.1238:0.0	.	148;161;224;142;224;224	B4DYU5;E7EPQ4;Q13105-2;F5H411;B2RCP2;Q13105	.;.;.;.;.;ZBT17_HUMAN	G	224;224;143;142;161	ENSP00000364895:V224G;ENSP00000364885:V224G;ENSP00000438529:V142G;ENSP00000391002:V161G	ENSP00000364885:V224G	V	-	2	0	ZBTB17	16144275	0.913000	0.31002	1.000000	0.80357	0.489000	0.33432	1.190000	0.32126	2.033000	0.60031	0.459000	0.35465	GTG	ZBTB17	-	NULL	ENSG00000116809		0.627	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	111	0.89	1	A	NM_003443		16271688	16271688	-1	no_errors	ENST00000375733	ensembl	human	known	69_37n	missense	182	16.82	37	SNP	1.000	C
RBBP4	5928	genome.wustl.edu	37	1	33116282	33116282	+	5'Flank	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:33116282A>C	ENST00000373493.5	+	0	0				RBBP4_ENST00000544435.1_5'Flank|ZBTB8OS_ENST00000373501.2_5'Flank|RBBP4_ENST00000373485.1_5'Flank|ZBTB8OS_ENST00000492007.1_5'Flank|ZBTB8OS_ENST00000468695.1_5'Flank|ZBTB8OS_ENST00000341885.5_5'Flank|RBBP4_ENST00000458695.2_5'Flank|RBBP4_ENST00000414241.3_5'Flank	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin assembly (GO:0031497)|chromatin remodeling (GO:0006338)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|nucleosome assembly (GO:0006334)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|NURF complex (GO:0016589)|protein complex (GO:0043234)|Sin3 complex (GO:0016580)	histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TTTAGTCCCTACCCTGCCGCT	0.488																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			BC053904	CCDS366.1, CCDS44105.1, CCDS44106.1	1p35.1	2014-07-17	2001-11-28		ENSG00000162521	ENSG00000162521		"""WD repeat domain containing"""	9887	protein-coding gene	gene with protein product		602923	"""retinoblastoma-binding protein 4"""			8350924, 14609955, 17531812	Standard	NM_005610		Approved	RbAp48, NURF55, lin-53	uc001bvr.3	Q09028	OTTHUMG00000007998		1.37:g.33116282A>C	Exception_encountered		B2R6G9|B4DRH0|D3DPQ3|P31149|Q53H02|Q96BV9	RNA	SNP	-	NULL	ENST00000373493.5	37	NULL	CCDS366.1	1																																																																																			ZBTB8OS	-	-	ENSG00000176261		0.488	RBBP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB8OS	HGNC	protein_coding	OTTHUMT00000021957.3	37	0.00	0	A	NM_005610		33116282	33116282	-1	no_errors	ENST00000479075	ensembl	human	known	69_37n	rna	30	26.83	11	SNP	0.000	C
ZC3H12B	340554	genome.wustl.edu	37	X	64722083	64722083	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chrX:64722083A>C	ENST00000338957.4	+	5	1572	c.1505A>C	c.(1504-1506)cAc>cCc	p.H502P	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.H491P	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	502							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATTTCCCCCACCAGAAGGCC	0.562																																						dbGAP											0													150.0	144.0	146.0					X																	64722083		1997	4151	6148	-	-	-	SO:0001583	missense	0			BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1505A>C	X.37:g.64722083A>C	ENSP00000340839:p.His502Pro		B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.H502P	ENST00000338957.4	37	c.1505	CCDS48131.2	X	.	.	.	.	.	.	.	.	.	.	A	6.459	0.452894	0.12283	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.22134	1.98;1.97	5.11	3.9	0.45041	.	0.139617	0.64402	D	0.000004	T	0.31827	0.0809	L	0.36672	1.1	0.53005	D	0.999963	D	0.76494	0.999	D	0.80764	0.994	T	0.01591	-1.1317	10	0.38643	T	0.18	.	9.2259	0.37407	0.8357:0.0:0.0:0.1643	.	491	Q5HYM0	ZC12B_HUMAN	P	502;491;438	ENSP00000340839:H502P;ENSP00000408077:H491P	ENSP00000218172:H438P	H	+	2	0	ZC3H12B	64638808	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	5.834000	0.69361	0.709000	0.31976	0.417000	0.27973	CAC	ZC3H12B	-	NULL	ENSG00000102053		0.562	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12B	HGNC	protein_coding	OTTHUMT00000378734.2	123	0.00	0	A	XM_293334		64722083	64722083	+1	no_errors	ENST00000338957	ensembl	human	known	69_37n	missense	171	10.00	19	SNP	1.000	C
ZC3H14	79882	genome.wustl.edu	37	14	89073699	89073699	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr14:89073699A>C	ENST00000251038.5	+	13	2085	c.1860A>C	c.(1858-1860)tcA>tcC	p.S620S	ZC3H14_ENST00000336693.4_Silent_p.S455S|ZC3H14_ENST00000557607.1_Silent_p.S309S|ZC3H14_ENST00000318308.6_Silent_p.S191S|ZC3H14_ENST00000555755.1_Silent_p.S615S|ZC3H14_ENST00000359301.3_Silent_p.S455S|ZC3H14_ENST00000393514.5_Silent_p.S595S|ZC3H14_ENST00000406216.3_Silent_p.S166S|ZC3H14_ENST00000302216.8_Silent_p.S464S|ZC3H14_ENST00000555900.1_Silent_p.S322S|ZC3H14_ENST00000556945.1_Silent_p.S489S	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	620						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ACCCCATCTCACCCTGCAAGT	0.532																																						dbGAP											0													131.0	99.0	109.0					14																	89073699		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.1860A>C	14.37:g.89073699A>C			A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	smart_Znf_CCCH	p.H536P	ENST00000251038.5	37	c.1607	CCDS32133.1	14	.	.	.	.	.	.	.	.	.	.	A	6.667	0.491591	0.12702	.	.	ENSG00000100722	ENST00000556000	.	.	.	5.64	3.03	0.35002	.	.	.	.	.	T	0.43919	0.1269	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34625	-0.9821	4	.	.	.	-9.3296	1.6993	0.02869	0.5695:0.1396:0.1564:0.1344	.	.	.	.	P	536	.	.	H	+	2	0	ZC3H14	88143452	0.836000	0.29430	0.997000	0.53966	0.611000	0.37282	0.163000	0.16520	0.896000	0.36366	0.528000	0.53228	CAC	ZC3H14	-	NULL	ENSG00000100722		0.532	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	ZC3H14	HGNC	protein_coding	OTTHUMT00000410387.1	112	0.87	1	A	NM_024824		89073699	89073699	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000556000	ensembl	human	known	69_37n	missense	89	21.05	24	SNP	0.991	C
ZC3H18	124245	genome.wustl.edu	37	16	88653071	88653071	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:88653071A>C	ENST00000301011.5	+	3	867	c.667A>C	c.(667-669)Acc>Ccc	p.T223P	ZC3H18_ENST00000452588.2_Missense_Mutation_p.T223P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	223						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			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)		GCCTCGTCCCACCTGCCGGTT	0.592																																					Ovarian(121;375 2276 20373 38669)	dbGAP											0													128.0	100.0	109.0					16																	88653071		2198	4300	6498	-	-	-	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.667A>C	16.37:g.88653071A>C	ENSP00000301011:p.Thr223Pro		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.T223P	ENST00000301011.5	37	c.667	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	A	18.34	3.601759	0.66445	.	.	ENSG00000158545	ENST00000301011;ENST00000289509;ENST00000452588;ENST00000545404	T;T	0.41758	0.99;1.38	5.03	5.03	0.67393	Zinc finger, CCCH-type (2);	0.055231	0.64402	D	0.000001	T	0.54581	0.1867	L	0.51422	1.61	0.49130	D	0.999758	D;D;D	0.63880	0.993;0.986;0.993	P;P;P	0.59487	0.858;0.744;0.858	T	0.57347	-0.7827	10	0.59425	D	0.04	-31.3967	14.7839	0.69787	1.0:0.0:0.0:0.0	.	223;223;223	E7ERS3;B4DTK7;Q86VM9	.;.;ZCH18_HUMAN	P	223;223;223;106	ENSP00000301011:T223P;ENSP00000416951:T223P	ENSP00000289509:T223P	T	+	1	0	ZC3H18	87180572	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.645000	0.91049	1.906000	0.55180	0.379000	0.24179	ACC	ZC3H18	-	smart_Znf_CCCH	ENSG00000158545		0.592	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	124	0.76	1	A	NM_144604		88653071	88653071	+1	no_errors	ENST00000301011	ensembl	human	known	69_37n	missense	88	15.74	17	SNP	1.000	C
ZDHHC19	131540	genome.wustl.edu	37	3	195938155	195938155	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:195938155A>C	ENST00000296326.3	-	1	111	c.32T>G	c.(31-33)gTg>gGg	p.V11G	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	11						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGGCTCCTTCACCAGCGGCGT	0.627																																						dbGAP											0													112.0	143.0	133.0					3																	195938155		2110	4221	6331	-	-	-	SO:0001583	missense	0			BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.32T>G	3.37:g.195938155A>C	ENSP00000296326:p.Val11Gly		A8MSY6|B3KVI1	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.V11G	ENST00000296326.3	37	c.32	CCDS43190.1	3	.	.	.	.	.	.	.	.	.	.	A	11.29	1.594130	0.28445	.	.	ENSG00000163958	ENST00000296326	T	0.35236	1.32	4.75	-0.907	0.10521	.	1.419630	0.04483	N	0.378145	T	0.29588	0.0738	L	0.43152	1.355	0.21604	N	0.999625	B	0.23650	0.089	B	0.23574	0.047	T	0.23190	-1.0195	10	0.25106	T	0.35	-1.1978	6.9057	0.24307	0.3439:0.5071:0.0:0.1491	.	11	Q8WVZ1	ZDH19_HUMAN	G	11	ENSP00000296326:V11G	ENSP00000296326:V11G	V	-	2	0	ZDHHC19	197422552	0.042000	0.20092	0.005000	0.12908	0.009000	0.06853	0.233000	0.17911	-0.008000	0.14320	-0.440000	0.05779	GTG	ZDHHC19	-	NULL	ENSG00000163958		0.627	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZDHHC19	HGNC	protein_coding	OTTHUMT00000341533.1	224	0.44	1	A	NM_144637		195938155	195938155	-1	no_errors	ENST00000296326	ensembl	human	known	69_37n	missense	151	15.85	29	SNP	0.019	C
ZFP62	643836	genome.wustl.edu	37	5	180276411	180276411	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr5:180276411T>G	ENST00000502412.1	-	2	2141	c.2084A>C	c.(2083-2085)cAc>cCc	p.H695P	ZFP62_ENST00000506377.1_Intron|ZFP62_ENST00000359141.6_Missense_Mutation_p.H635P|ZFP62_ENST00000512132.1_Missense_Mutation_p.H662P	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	695					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCCAGGGTGGGTACTCTT	0.438																																						dbGAP											0													106.0	107.0	107.0					5																	180276411		692	1591	2283	-	-	-	SO:0001583	missense	0			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.2084A>C	5.37:g.180276411T>G	ENSP00000423820:p.His695Pro		B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H662P	ENST00000502412.1	37	c.1985	CCDS54955.1	5	.	.	.	.	.	.	.	.	.	.	.	11.64	1.698798	0.30142	.	.	ENSG00000196670	ENST00000512132;ENST00000359141;ENST00000502412;ENST00000405851	T;T;T	0.67698	-0.28;-0.28;-0.28	4.56	4.56	0.56223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.85539	0.5720	H	0.94222	3.51	0.46260	D	0.998959	D	0.89917	1.0	D	0.91635	0.999	D	0.89028	0.3440	9	0.87932	D	0	.	12.5321	0.56122	0.0:0.0:0.0:1.0	.	695	Q8NB50	ZFP62_HUMAN	P	662;635;695;293	ENSP00000426193:H662P;ENSP00000352053:H635P;ENSP00000423820:H695P	ENSP00000352053:H635P	H	-	2	0	ZFP62	180209017	1.000000	0.71417	0.997000	0.53966	0.258000	0.26162	7.868000	0.87116	2.272000	0.75746	0.460000	0.39030	CAC	ZFP62	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196670		0.438	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ZFP62	HGNC	protein_coding	OTTHUMT00000368386.2	255	0.39	1	T	NM_152283		180276411	180276411	-1	no_errors	ENST00000512132	ensembl	human	known	69_37n	missense	168	11.58	22	SNP	1.000	G
ZFP64	55734	genome.wustl.edu	37	20	50776679	50776679	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr20:50776679T>G	ENST00000216923.4	-	5	1095	c.746A>C	c.(745-747)cAc>cCc	p.H249P	ZFP64_ENST00000371518.2_Missense_Mutation_p.H249P|ZFP64_ENST00000346617.4_Missense_Mutation_p.H195P|ZFP64_ENST00000361387.2_Missense_Mutation_p.H249P|ZFP64_ENST00000371515.4_Missense_Mutation_p.H247P|ZFP64_ENST00000477786.1_5'UTR	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	249					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						GGATCGCAGGTGGACAGTGAG	0.547																																						dbGAP											0													136.0	139.0	138.0					20																	50776679		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.746A>C	20.37:g.50776679T>G	ENSP00000216923:p.His249Pro		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H249P	ENST00000216923.4	37	c.746	CCDS13440.1	20	.	.	.	.	.	.	.	.	.	.	T	27.8	4.864166	0.91511	.	.	ENSG00000020256	ENST00000371518;ENST00000361387;ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;D;D;D	0.86865	0.16;0.16;-2.18;-2.18;-2.18	6.17	6.17	0.99709	Zinc finger, C2H2-like (2);Zinc finger, C2H2 (4);Zinc finger, C2H2-type/integrase, DNA-binding (2);	0.000000	0.64402	D	0.000014	D	0.96423	0.8833	H	0.98333	4.205	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.996	D	0.97967	1.0341	10	0.87932	D	0	-24.6158	16.8222	0.85835	0.0:0.0:0.0:1.0	.	195;247;249;249	Q9NPA5-2;Q5JWM1;Q9NPA5;Q9NTW7	.;.;ZF64A_HUMAN;ZF64B_HUMAN	P	249;249;249;195;247;91;402	ENSP00000360573:H249P;ENSP00000355179:H249P;ENSP00000216923:H249P;ENSP00000344615:H195P;ENSP00000360570:H247P	ENSP00000216923:H249P	H	-	2	0	ZFP64	50210086	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.846000	0.86887	2.371000	0.80710	0.533000	0.62120	CAC	ZFP64	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000020256		0.547	ZFP64-003	KNOWN	basic|CCDS	protein_coding	ZFP64	HGNC	protein_coding	OTTHUMT00000079744.1	250	0.00	0	T	NM_018197		50776679	50776679	-1	no_errors	ENST00000216923	ensembl	human	known	69_37n	missense	200	11.89	27	SNP	1.000	G
ZMIZ1	57178	genome.wustl.edu	37	10	81067261	81067261	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:81067261A>C	ENST00000334512.5	+	23	3340	c.2768A>C	c.(2767-2769)cAc>cCc	p.H923P	ZMIZ1_ENST00000446377.2_Missense_Mutation_p.H76P	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	923	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAGCTCTCCCACCCCCCGGAC	0.607																																						dbGAP											0													55.0	57.0	57.0					10																	81067261		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2768A>C	10.37:g.81067261A>C	ENSP00000334474:p.His923Pro		Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.H923P	ENST00000334512.5	37	c.2768	CCDS7357.1	10	.	.	.	.	.	.	.	.	.	.	A	17.88	3.498182	0.64186	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347;ENST00000446377	T	0.35236	1.32	4.57	4.57	0.56435	.	0.000000	0.43260	D	0.000592	T	0.56702	0.2003	M	0.66939	2.045	0.80722	D	1	D;B	0.60575	0.988;0.375	D;B	0.69654	0.965;0.323	T	0.61302	-0.7090	10	0.66056	D	0.02	-19.0398	14.3227	0.66496	1.0:0.0:0.0:0.0	.	76;923	B4DSG4;Q9ULJ6	.;ZMIZ1_HUMAN	P	923;853;824;76	ENSP00000334474:H923P	ENSP00000334474:H923P	H	+	2	0	ZMIZ1	80737267	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.918000	0.92759	1.842000	0.53543	0.529000	0.55759	CAC	ZMIZ1	-	NULL	ENSG00000108175		0.607	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	98	1.00	1	A	NM_020338		81067261	81067261	+1	no_errors	ENST00000334512	ensembl	human	known	69_37n	missense	86	16.50	17	SNP	1.000	C
ZMYND10	51364	genome.wustl.edu	37	3	50380436	50380436	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr3:50380436T>G	ENST00000231749.3	-	7	1885	c.613A>C	c.(613-615)Acc>Ccc	p.T205P	ZMYND10_ENST00000360165.3_Intron|RASSF1_ENST00000357043.2_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000359365.4_5'Flank	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	205					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CGGCTCAAGGTGCTGAGAGAG	0.632										TSP Lung(30;0.18)																												dbGAP											0													146.0	133.0	137.0					3																	50380436		2203	4300	6503	-	-	-	SO:0001583	missense	0			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.613A>C	3.37:g.50380436T>G	ENSP00000231749:p.Thr205Pro		A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND	p.T205P	ENST00000231749.3	37	c.613	CCDS2825.1	3	.	.	.	.	.	.	.	.	.	.	T	14.06	2.423436	0.43020	.	.	ENSG00000004838	ENST00000231749;ENST00000442887	T;T	0.29917	1.55;1.55	5.55	1.94	0.25998	.	0.292475	0.39146	N	0.001448	T	0.28632	0.0709	L	0.56769	1.78	0.80722	D	1	P	0.34837	0.472	B	0.37943	0.261	T	0.04347	-1.0958	10	0.51188	T	0.08	-9.2306	6.8408	0.23961	0.0:0.4352:0.0:0.5648	.	205	O75800	ZMY10_HUMAN	P	205;162	ENSP00000231749:T205P;ENSP00000393687:T162P	ENSP00000231749:T205P	T	-	1	0	ZMYND10	50355440	0.991000	0.36638	0.716000	0.30569	0.734000	0.41952	1.227000	0.32576	0.409000	0.25649	0.459000	0.35465	ACC	ZMYND10	-	pirsf_UCP037948_Znf-MYND	ENSG00000004838		0.632	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZMYND10	HGNC	protein_coding	OTTHUMT00000346376.1	295	0.66	2	T	NM_015896		50380436	50380436	-1	no_errors	ENST00000231749	ensembl	human	known	69_37n	missense	304	10.82	37	SNP	0.974	G
ZMYND15	84225	genome.wustl.edu	37	17	4647126	4647126	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:4647126A>C	ENST00000433935.1	+	7	1419	c.1362A>C	c.(1360-1362)ccA>ccC	p.P454P	ZMYND15_ENST00000269289.6_Silent_p.P454P|ZMYND15_ENST00000573751.2_Silent_p.P454P|ZMYND15_ENST00000592813.1_Silent_p.P454P	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	454					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CCCCACATCCACCCCGGGGTG	0.627																																						dbGAP											0													30.0	31.0	31.0					17																	4647126		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.1362A>C	17.37:g.4647126A>C			B4DXY5|I3L296	Silent	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.P454	ENST00000433935.1	37	c.1362	CCDS45584.1	17																																																																																			ZMYND15	-	NULL	ENSG00000141497		0.627	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1	80	0.00	0	A	NM_032265		4647126	4647126	+1	no_errors	ENST00000433935	ensembl	human	known	69_37n	silent	58	24.36	19	SNP	0.976	C
ZNF142	7701	genome.wustl.edu	37	2	219508240	219508240	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr2:219508240T>G	ENST00000449707.1	-	8	3420	c.2999A>C	c.(2998-3000)cAc>cCc	p.H1000P	ZNF142_ENST00000411696.2_Missense_Mutation_p.H1000P	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1000					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGGGTCAAGGTGGTGCTTCTT	0.587																																					Colon(170;867 1942 8995 15834 18053)	dbGAP											0													98.0	107.0	104.0					2																	219508240		1934	4124	6058	-	-	-	SO:0001583	missense	0			U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.2999A>C	2.37:g.219508240T>G	ENSP00000408643:p.His1000Pro		Q92510	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H1000P	ENST00000449707.1	37	c.2999	CCDS42817.1	2	.	.	.	.	.	.	.	.	.	.	T	0.032	-1.327612	0.01309	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.11604	2.76;2.76	0.0465	-0.093	0.13652	.	0.876905	0.10345	N	0.685798	T	0.04634	0.0126	N	0.08118	0	0.09310	N	1	P;P	0.39520	0.676;0.676	B;B	0.36534	0.227;0.227	T	0.34601	-0.9822	10	0.32370	T	0.25	.	4.622	0.12460	0.0:0.6617:0.0:0.3383	.	1000;837	P52746;A8MWU9	ZN142_HUMAN;.	P	1000	ENSP00000408643:H1000P;ENSP00000398798:H1000P	ENSP00000398798:H1000P	H	-	2	0	ZNF142	219216484	.	.	0.020000	0.16555	0.005000	0.04900	.	.	-1.450000	0.01936	-1.450000	0.01041	CAC	ZNF142	-	NULL	ENSG00000115568		0.587	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF142	HGNC	protein_coding	OTTHUMT00000336833.1	301	0.97	3	T	NM_005081		219508240	219508240	-1	no_errors	ENST00000411696	ensembl	human	known	69_37n	missense	261	15.87	50	SNP	0.203	G
ZNF169	169841	genome.wustl.edu	37	9	97054651	97054651	+	Missense_Mutation	SNP	T	T	G	rs79011625		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr9:97054651T>G	ENST00000395395.2	+	3	152	c.62T>G	c.(61-63)gTg>gGg	p.V21G	ZNF169_ENST00000480716.1_Missense_Mutation_p.V21G|ZNF169_ENST00000375354.4_Missense_Mutation_p.V21G|ZNF169_ENST00000481550.2_Missense_Mutation_p.V21G|ZNF169_ENST00000340911.4_Missense_Mutation_p.V21G	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	21	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)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				GATGTGGCTGTGGCCTTCACC	0.542																																						dbGAP											0													147.0	129.0	135.0					9																	97054651		2203	4300	6503	-	-	-	SO:0001583	missense	0			U28322	CCDS6709.2	9q22.32	2014-07-30			ENSG00000175787	ENSG00000175787		"""Zinc fingers, C2H2-type"", ""-"""	12957	protein-coding gene	gene with protein product		603404				9186526, 9071574	Standard	NM_001301275		Approved	MGC51961	uc004aum.1	Q14929	OTTHUMG00000020264	ENST00000395395.2:c.62T>G	9.37:g.97054651T>G	ENSP00000378792:p.Val21Gly		A2AGP5|A8K127|Q6PI28	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.V21G	ENST00000395395.2	37	c.62	CCDS6709.2	9	.	.	.	.	.	.	.	.	.	.	t	17.41	3.383109	0.61845	.	.	ENSG00000175787	ENST00000395395;ENST00000375354	T;T	0.04758	3.56;3.56	2.91	2.91	0.33838	Krueppel-associated box (4);	.	.	.	.	T	0.33440	0.0863	H	0.98738	4.315	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.997	T	0.48163	-0.9059	9	0.87932	D	0	.	9.2507	0.37554	0.0:0.0:0.0:1.0	.	21;21;21	Q6PIG1;Q7Z761;Q14929	.;.;ZN169_HUMAN	G	21	ENSP00000378792:V21G;ENSP00000364503:V21G	ENSP00000364503:V21G	V	+	2	0	ZNF169	96094472	0.131000	0.22433	0.999000	0.59377	0.989000	0.77384	2.558000	0.45879	1.355000	0.45865	0.491000	0.48974	GTG	ZNF169	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000175787		0.542	ZNF169-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF169	HGNC	protein_coding	OTTHUMT00000253714.1	229	0.43	1	T	NM_194320		97054651	97054651	+1	no_errors	ENST00000395395	ensembl	human	known	69_37n	missense	124	13.89	20	SNP	1.000	G
ZNF229	7772	genome.wustl.edu	37	19	44934529	44934529	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:44934529A>C	ENST00000588931.1	-	6	860	c.427T>G	c.(427-429)Tgg>Ggg	p.W143G	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Missense_Mutation_p.W137G|CTC-512J12.4_ENST00000588655.1_RNA	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	143					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCTCCTTCCCACCCTTGATGG	0.493																																						dbGAP											0													114.0	109.0	110.0					19																	44934529		1888	4103	5991	-	-	-	SO:0001583	missense	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.427T>G	19.37:g.44934529A>C	ENSP00000466519:p.Trp143Gly		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W143G	ENST00000588931.1	37	c.427	CCDS42574.1	19	.	.	.	.	.	.	.	.	.	.	a	3.919	-0.018524	0.07681	.	.	ENSG00000167383	ENST00000291187	.	.	.	3.1	-2.51	0.06365	.	.	.	.	.	T	0.16214	0.0390	N	0.12746	0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21415	-1.0246	8	0.25751	T	0.34	.	5.1685	0.15098	0.2749:0.3852:0.3399:0.0	.	143	Q9UJW7	ZN229_HUMAN	G	143	.	ENSP00000291187:W143G	W	-	1	0	ZNF229	49626369	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.657000	0.05335	-0.793000	0.04475	0.492000	0.49549	TGG	ZNF229	-	NULL	ENSG00000167383		0.493	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	121	0.00	0	A	NM_014518		44934529	44934529	-1	no_errors	ENST00000588931	ensembl	human	known	69_37n	missense	122	16.89	25	SNP	0.000	C
ZNF358	140467	genome.wustl.edu	37	19	7585581	7585581	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:7585581A>C	ENST00000597229.1	+	2	1623	c.1453A>C	c.(1453-1455)Acc>Ccc	p.T485P	MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Missense_Mutation_p.T485P|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	485					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						ctccagatccacccccagccc	0.677																																						dbGAP											0													43.0	43.0	43.0					19																	7585581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1453A>C	19.37:g.7585581A>C	ENSP00000472305:p.Thr485Pro		Q9BTM7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T485P	ENST00000597229.1	37	c.1453	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	A	13.84	2.357421	0.41801	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.47177	0.85	3.55	-1.73	0.08081	.	.	.	.	.	T	0.24122	0.0584	N	0.14661	0.345	0.09310	N	1	B	0.26975	0.165	B	0.23018	0.043	T	0.15752	-1.0426	9	0.66056	D	0.02	.	2.7339	0.05235	0.4251:0.0:0.213:0.3619	.	485	Q9NW07	ZN358_HUMAN	P	485	ENSP00000377873:T485P	ENSP00000354703:T485P	T	+	1	0	ZNF358	7491581	0.000000	0.05858	0.144000	0.22314	0.633000	0.38033	-0.960000	0.03849	-0.468000	0.06922	-0.695000	0.03696	ACC	ZNF358	-	NULL	ENSG00000198816		0.677	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	56	0.00	0	A			7585581	7585581	+1	no_errors	ENST00000394341	ensembl	human	known	69_37n	missense	47	21.67	13	SNP	0.108	C
ZNF350	59348	genome.wustl.edu	37	19	52472356	52472356	+	Missense_Mutation	SNP	A	A	C	rs551559152	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:52472356A>C	ENST00000243644.4	-	3	271	c.44T>G	c.(43-45)gTg>gGg	p.V15G	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'UTR	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	15	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AGTGAAGTCCACAGCCACATC	0.473													A|||	36	0.0071885	0.0038	0.0086	5008	,	,		16347	0.0089		0.0159	False		,,,				2504	0.0					dbGAP											0													140.0	127.0	132.0					19																	52472356		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.44T>G	19.37:g.52472356A>C	ENSP00000243644:p.Val15Gly		Q96G73|Q9HAQ4	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.V15G	ENST00000243644.4	37	c.44	CCDS12845.1	19	.	.	.	.	.	.	.	.	.	.	A	13.91	2.377789	0.42105	.	.	ENSG00000256683	ENST00000243644	T	0.04758	3.56	3.43	3.43	0.39272	Krueppel-associated box (4);	0.000000	0.31156	N	0.008158	T	0.36082	0.0954	H	0.99507	4.6	0.19945	N	0.999948	D	0.89917	1.0	D	0.91635	0.999	T	0.51220	-0.8733	10	0.87932	D	0	.	9.9052	0.41372	1.0:0.0:0.0:0.0	.	15	Q9GZX5	ZN350_HUMAN	G	15	ENSP00000243644:V15G	ENSP00000243644:V15G	V	-	2	0	ZNF350	57164168	0.071000	0.21146	0.406000	0.26421	0.604000	0.37047	4.775000	0.62346	1.426000	0.47256	0.477000	0.44152	GTG	ZNF350	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000256683		0.473	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF350	HGNC	protein_coding	OTTHUMT00000462278.1	253	0.39	1	A	NM_021632		52472356	52472356	-1	no_errors	ENST00000243644	ensembl	human	known	69_37n	missense	177	14.01	29	SNP	0.085	C
ZNF385A	25946	genome.wustl.edu	37	12	54778214	54778214	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr12:54778214T>G	ENST00000338010.5	-	2	198	c.145A>C	c.(145-147)Acc>Ccc	p.T49P	ZNF385A_ENST00000546970.1_Missense_Mutation_p.T29P|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000551109.1_Missense_Mutation_p.T29P|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000352268.6_Missense_Mutation_p.T49P|ZNF385A_ENST00000551771.1_Missense_Mutation_p.T29P|ZNF385A_ENST00000394313.2_Missense_Mutation_p.T29P	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	49					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CTACTTACGGTGCTGTAGTTG	0.577																																						dbGAP											0													65.0	51.0	56.0					12																	54778214		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.145A>C	12.37:g.54778214T>G	ENSP00000338927:p.Thr49Pro		B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.T49P	ENST00000338010.5	37	c.145	CCDS44911.1	12	.	.	.	.	.	.	.	.	.	.	T	15.51	2.855523	0.51376	.	.	ENSG00000161642	ENST00000551109;ENST00000352268;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000551771;ENST00000546919;ENST00000549937;ENST00000549962;ENST00000547210;ENST00000550774;ENST00000550120	T;T;T;T;T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.1;1.02;1.02;1.1	4.3	1.9	0.25705	.	0.214824	0.36740	N	0.002428	T	0.45377	0.1339	L	0.43923	1.385	0.80722	D	1	B;D;D;P	0.63880	0.039;0.967;0.993;0.93	B;P;P;P	0.59424	0.023;0.732;0.857;0.462	T	0.28744	-1.0034	10	0.51188	T	0.08	-3.8109	6.1489	0.20301	0.0:0.217:0.0:0.783	.	29;29;29;29	Q96PM9-2;F8VSJ1;F8VRY0;Q96PM9	.;.;.;Z385A_HUMAN	P	29;49;29;49;29;29;29;11;49;29;29;29	ENSP00000449161:T29P;ENSP00000293385:T49P;ENSP00000377849:T29P;ENSP00000338927:T49P;ENSP00000446913:T29P;ENSP00000447162:T29P;ENSP00000448466:T29P;ENSP00000448567:T11P;ENSP00000450149:T49P;ENSP00000448264:T29P;ENSP00000449462:T29P;ENSP00000448754:T29P	ENSP00000338927:T49P	T	-	1	0	ZNF385A	53064481	1.000000	0.71417	0.996000	0.52242	0.671000	0.39405	1.043000	0.30316	0.177000	0.19895	-0.589000	0.04120	ACC	ZNF385A	-	NULL	ENSG00000161642		0.577	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385A	HGNC	protein_coding	OTTHUMT00000406162.1	150	0.65	1	T	NM_015481		54778214	54778214	-1	no_errors	ENST00000338010	ensembl	human	known	69_37n	missense	110	18.38	25	SNP	0.998	G
ZNF395	55893	genome.wustl.edu	37	8	28206665	28206665	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr8:28206665T>G	ENST00000344423.5	-	9	1538	c.1407A>C	c.(1405-1407)ccA>ccC	p.P469P	ZNF395_ENST00000523202.1_Silent_p.P469P|ZNF395_ENST00000523095.1_Silent_p.P469P	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGGCCCGGGGTGGAGAAGTGA	0.652																																						dbGAP											0													116.0	121.0	119.0					8																	28206665		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB044750	CCDS6067.1	8p21	2008-05-02			ENSG00000186918	ENSG00000186918		"""Zinc fingers, C2H2-type"""	18737	protein-coding gene	gene with protein product		609494				14625278	Standard	NM_018660		Approved	PRF-1, HDBP2, PBF, DKFZp434K1210	uc003xgr.3	Q9H8N7	OTTHUMG00000102137	ENST00000344423.5:c.1407A>C	8.37:g.28206665T>G			B3KUY7|D3DST4|Q6F6H2|Q9BY72|Q9NPB2|Q9NS57|Q9NS58|Q9NS59	Silent	SNP	pfscan_Znf_C2H2	p.P469	ENST00000344423.5	37	c.1407	CCDS6067.1	8																																																																																			ZNF395	-	NULL	ENSG00000186918		0.652	ZNF395-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF395	HGNC	protein_coding	OTTHUMT00000219976.1	131	0.75	1	T			28206665	28206665	-1	no_errors	ENST00000344423	ensembl	human	known	69_37n	silent	107	15.75	20	SNP	0.997	G
ZNF408	79797	genome.wustl.edu	37	11	46723028	46723028	+	Silent	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr11:46723028A>C	ENST00000311764.2	+	2	362	c.132A>C	c.(130-132)ccA>ccC	p.P44P	ARHGAP1_ENST00000311956.4_5'Flank	NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGACGTCCCACCCGAGCCGA	0.647																																					Pancreas(79;698 1390 6545 18745 34127)|Esophageal Squamous(120;1014 1625 12837 24601 49525)	dbGAP											0													62.0	71.0	68.0					11																	46723028		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF346626	CCDS7923.1	11p11.2	2008-02-05			ENSG00000175213	ENSG00000175213		"""Zinc fingers, C2H2-type"""	20041	protein-coding gene	gene with protein product						15231747	Standard	NM_024741		Approved	FLJ12827	uc010rgw.2	Q9H9D4	OTTHUMG00000166568	ENST00000311764.2:c.132A>C	11.37:g.46723028A>C				Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P44	ENST00000311764.2	37	c.132	CCDS7923.1	11																																																																																			ZNF408	-	NULL	ENSG00000175213		0.647	ZNF408-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF408	HGNC	protein_coding	OTTHUMT00000390485.2	97	0.00	0	A	NM_024741		46723028	46723028	+1	no_errors	ENST00000311764	ensembl	human	known	69_37n	silent	38	32.76	19	SNP	0.000	C
ZNF438	220929	genome.wustl.edu	37	10	31138837	31138837	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:31138837T>G	ENST00000361310.3	-	6	826	c.497A>C	c.(496-498)cAc>cCc	p.H166P	ZNF438_ENST00000452305.1_Missense_Mutation_p.H156P|ZNF438_ENST00000538351.2_Missense_Mutation_p.H117P|ZNF438_ENST00000442986.1_Missense_Mutation_p.H166P|ZNF438_ENST00000444692.2_Missense_Mutation_p.H156P|ZNF438_ENST00000436087.2_Missense_Mutation_p.H166P|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000331737.6_Missense_Mutation_p.H156P|ZNF438_ENST00000413025.1_Missense_Mutation_p.H166P			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	166					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GAGTTCAGGGTGGTGAGGTGG	0.517																																						dbGAP											0													194.0	193.0	194.0					10																	31138837		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.497A>C	10.37:g.31138837T>G	ENSP00000354663:p.His166Pro		A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H166P	ENST00000361310.3	37	c.497	CCDS7168.1	10	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375791	0.24857	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.10288	2.89;2.9;2.9;2.9;2.9;2.89;2.89;2.91	5.63	-6.91	0.01649	.	1.536870	0.03195	N	0.173958	T	0.09069	0.0224	L	0.54323	1.7	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.08055	0.002;0.003	T	0.35251	-0.9796	10	0.30078	T	0.28	0.2158	3.5239	0.07752	0.0983:0.3822:0.2007:0.3187	.	166;156	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	P	156;166;166;166;166;156;156;117	ENSP00000333571:H156P;ENSP00000354663:H166P;ENSP00000406934:H166P;ENSP00000412363:H166P;ENSP00000387546:H166P;ENSP00000413060:H156P;ENSP00000410898:H156P;ENSP00000445461:H117P	ENSP00000333571:H156P	H	-	2	0	ZNF438	31178843	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.422000	0.07043	-0.799000	0.04439	-0.316000	0.08728	CAC	ZNF438	-	NULL	ENSG00000183621		0.517	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1	306	0.96	3	T	NM_182755		31138837	31138837	-1	no_errors	ENST00000361310	ensembl	human	known	69_37n	missense	357	11.39	46	SNP	0.000	G
ZNF438	220929	genome.wustl.edu	37	10	31138845	31138845	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr10:31138845T>G	ENST00000361310.3	-	6	818	c.489A>C	c.(487-489)ccA>ccC	p.P163P	ZNF438_ENST00000452305.1_Silent_p.P153P|ZNF438_ENST00000538351.2_Silent_p.P114P|ZNF438_ENST00000442986.1_Silent_p.P163P|ZNF438_ENST00000444692.2_Silent_p.P153P|ZNF438_ENST00000436087.2_Silent_p.P163P|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000331737.6_Silent_p.P153P|ZNF438_ENST00000413025.1_Silent_p.P163P			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	163					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GGTGGTGAGGTGGGGAAGGGG	0.517																																						dbGAP											0													197.0	199.0	198.0					10																	31138845		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.489A>C	10.37:g.31138845T>G			A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P163	ENST00000361310.3	37	c.489	CCDS7168.1	10																																																																																			ZNF438	-	NULL	ENSG00000183621		0.517	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF438	HGNC	protein_coding	OTTHUMT00000277006.1	318	0.62	2	T	NM_182755		31138845	31138845	-1	no_errors	ENST00000361310	ensembl	human	known	69_37n	silent	365	13.06	55	SNP	0.000	G
ZNF496	84838	genome.wustl.edu	37	1	247463774	247463774	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:247463774T>G	ENST00000294753.4	-	0	2275				ZNF496_ENST00000366498.2_3'UTR|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AGTACCAAGGTGAGGGGGCAG	0.637																																						dbGAP											0													19.0	18.0	18.0					1																	247463774		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.*47A>C	1.37:g.247463774T>G			Q8TBS2	RNA	SNP	-	NULL	ENST00000294753.4	37	NULL	CCDS1631.1	1																																																																																			ZNF496	-	-	ENSG00000162714		0.637	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	33	0.00	0	T	NM_032752		247463774	247463774	-1	no_errors	ENST00000461277	ensembl	human	known	69_37n	rna	31	20.00	8	SNP	0.000	G
ZNF516	9658	genome.wustl.edu	37	18	74074435	74074435	+	3'UTR	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr18:74074435T>G	ENST00000443185.2	-	0	3827				ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGACCTGGGGTGCGTCGGAAA	0.577																																						dbGAP											0													67.0	72.0	70.0					18																	74074435		2010	4162	6172	-	-	-	SO:0001624	3_prime_UTR_variant	0			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.*18A>C	18.37:g.74074435T>G				RNA	SNP	-	NULL	ENST00000443185.2	37	NULL		18																																																																																			ZNF516	-	-	ENSG00000101493		0.577	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	ZNF516	HGNC	protein_coding		120	0.83	1	T	NM_014643		74074435	74074435	-1	no_errors	ENST00000524431	ensembl	human	known	69_37n	rna	77	26.67	28	SNP	0.000	G
ZNF574	64763	genome.wustl.edu	37	19	42584233	42584233	+	Missense_Mutation	SNP	A	A	G	rs200839693	byFrequency	TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:42584233A>G	ENST00000600245.1	+	2	2130	c.1475A>G	c.(1474-1476)gAg>gGg	p.E492G	ZNF574_ENST00000359044.4_Missense_Mutation_p.E492G|ZNF574_ENST00000222339.7_Missense_Mutation_p.E582G|CTB-59C6.3_ENST00000594531.1_RNA			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	492					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CATCGGCTGGAGCGGCGCCAT	0.612																																						dbGAP											0													93.0	105.0	101.0					19																	42584233		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.1475A>G	19.37:g.42584233A>G	ENSP00000469029:p.Glu492Gly		Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E582G	ENST00000600245.1	37	c.1745	CCDS12596.1	19	.	.	.	.	.	.	.	.	.	.	a	17.73	3.461036	0.63513	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.42513	0.97;0.97	4.48	4.48	0.54585	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	M	0.62209	1.925	0.44477	D	0.99741	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64158	-0.6473	10	0.72032	D	0.01	-12.2335	12.9055	0.58149	1.0:0.0:0.0:0.0	.	492;581	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	G	582;492;99	ENSP00000222339:E582G;ENSP00000351939:E492G	ENSP00000222339:E582G	E	+	2	0	ZNF574	47276073	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.792000	0.69052	1.893000	0.54813	0.524000	0.50904	GAG	ZNF574	-	pfscan_Znf_C2H2	ENSG00000105732		0.612	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	HGNC	protein_coding	OTTHUMT00000463458.1	75	0.00	0	A	NM_022752		42584233	42584233	+1	no_errors	ENST00000222339	ensembl	human	known	69_37n	missense	28	34.09	15	SNP	1.000	G
ZNF584	201514	genome.wustl.edu	37	19	58926963	58926963	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:58926963T>G	ENST00000306910.4	+	3	765	c.242T>G	c.(241-243)gTg>gGg	p.V81G	CTD-2619J13.16_ENST00000596296.1_lincRNA|ZNF584_ENST00000596921.1_3'UTR|ZNF584_ENST00000599238.1_Missense_Mutation_p.V36G|ZNF584_ENST00000596281.1_Missense_Mutation_p.W31G|ZNF584_ENST00000322834.7_Missense_Mutation_p.V73G|ZNF584_ENST00000593920.1_Missense_Mutation_p.V36G	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	81	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)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		CCCAGCTGGGTGGATGTGACT	0.537																																						dbGAP											0													132.0	111.0	118.0					19																	58926963		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097218	CCDS12979.1	19q13.43	2013-01-08			ENSG00000171574	ENSG00000171574		"""Zinc fingers, C2H2-type"", ""-"""	27318	protein-coding gene	gene with protein product							Standard	NM_173548		Approved	FLJ39899	uc002qsp.3	Q8IVC4		ENST00000306910.4:c.242T>G	19.37:g.58926963T>G	ENSP00000306756:p.Val81Gly		A8K203	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.V81G	ENST00000306910.4	37	c.242	CCDS12979.1	19	.	.	.	.	.	.	.	.	.	.	T	11.60	1.687220	0.29962	.	.	ENSG00000171574	ENST00000306910;ENST00000322834	T;T	0.06608	3.28;5.2	3.26	1.08	0.20341	Krueppel-associated box (1);	.	.	.	.	T	0.05410	0.0143	N	0.11870	0.19	0.09310	N	1	D;B	0.54047	0.964;0.267	P;B	0.52909	0.713;0.059	T	0.40059	-0.9583	9	0.20519	T	0.43	.	4.8078	0.13328	0.0:0.2785:0.0:0.7215	.	73;81	F6W0P0;Q8IVC4	.;ZN584_HUMAN	G	81;73	ENSP00000306756:V81G;ENSP00000320731:V73G	ENSP00000306756:V81G	V	+	2	0	ZNF584	63618775	0.002000	0.14202	0.001000	0.08648	0.063000	0.16089	0.188000	0.17018	0.440000	0.26502	0.397000	0.26171	GTG	ZNF584	-	pfscan_Krueppel-associated_box	ENSG00000171574		0.537	ZNF584-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF584	HGNC	protein_coding	OTTHUMT00000467022.1	157	0.62	1	T	NM_173548		58926963	58926963	+1	no_errors	ENST00000306910	ensembl	human	known	69_37n	missense	136	17.58	29	SNP	0.000	G
ZNF592	9640	genome.wustl.edu	37	15	85342434	85342434	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr15:85342434A>C	ENST00000560079.2	+	9	3418	c.3130A>C	c.(3130-3132)Acc>Ccc	p.T1044P	ZNF592_ENST00000299927.3_Missense_Mutation_p.T1044P	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1044					cell death (GO:0008219)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAAGTTCTACACCTGCGGGTG	0.557																																						dbGAP											0													172.0	156.0	162.0					15																	85342434		2203	4299	6502	-	-	-	SO:0001583	missense	0			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3130A>C	15.37:g.85342434A>C	ENSP00000452877:p.Thr1044Pro		Q2M1T2|Q504Y9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T1044P	ENST00000560079.2	37	c.3130	CCDS32317.1	15	.	.	.	.	.	.	.	.	.	.	A	14.59	2.581471	0.46006	.	.	ENSG00000166716	ENST00000299927	T	0.52526	0.66	5.33	5.33	0.75918	Zinc finger, C2H2-like (1);	0.226336	0.45361	D	0.000363	T	0.32346	0.0826	N	0.25031	0.7	0.37719	D	0.924865	B	0.15930	0.015	B	0.19946	0.027	T	0.25328	-1.0135	10	0.27082	T	0.32	-10.4702	9.4923	0.38967	0.822:0.1779:0.0:0.0	.	1044	Q92610	ZN592_HUMAN	P	1044	ENSP00000299927:T1044P	ENSP00000299927:T1044P	T	+	1	0	ZNF592	83143438	1.000000	0.71417	0.991000	0.47740	0.940000	0.58332	4.035000	0.57297	2.006000	0.58801	0.533000	0.62120	ACC	ZNF592	-	smart_Znf_C2H2-like	ENSG00000166716		0.557	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF592	HGNC	protein_coding	OTTHUMT00000418779.2	235	0.42	1	A	NM_014630		85342434	85342434	+1	no_errors	ENST00000299927	ensembl	human	known	69_37n	missense	167	11.64	22	SNP	1.000	C
ZNF594	84622	genome.wustl.edu	37	17	5086844	5086844	+	Silent	SNP	C	C	T			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:5086844C>T	ENST00000399604.4	-	1	848	c.708G>A	c.(706-708)ggG>ggA	p.G236G	ZNF594_ENST00000575779.1_Silent_p.G236G			Q96JF6	ZN594_HUMAN	zinc finger protein 594	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AATATGGCTTCCCCCTACTGT	0.428																																						dbGAP											0													112.0	116.0	114.0					17																	5086844		2107	4244	6351	-	-	-	SO:0001819	synonymous_variant	0			AB058774	CCDS42241.1	17p13	2013-01-08			ENSG00000180626	ENSG00000180626		"""Zinc fingers, C2H2-type"""	29392	protein-coding gene	gene with protein product						11347906	Standard	NM_032530		Approved	KIAA1871	uc010cla.1	Q96JF6	OTTHUMG00000132059	ENST00000399604.4:c.708G>A	17.37:g.5086844C>T			Q6RFS0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G236	ENST00000399604.4	37	c.708	CCDS42241.1	17																																																																																			ZNF594	-	pfscan_Znf_C2H2	ENSG00000180626		0.428	ZNF594-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF594	HGNC	protein_coding	OTTHUMT00000438996.1	101	0.97	1	C	XM_290737		5086844	5086844	-1	no_errors	ENST00000399604	ensembl	human	known	69_37n	silent	74	13.95	12	SNP	1.000	T
ZNF614	80110	genome.wustl.edu	37	19	52521719	52521719	+	Missense_Mutation	SNP	A	A	C	rs76388547		TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:52521719A>C	ENST00000270649.6	-	3	588	c.44T>G	c.(43-45)gTg>gGg	p.V15G	ZNF614_ENST00000356322.6_Missense_Mutation_p.V15G	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	15	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)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCTGAATTCCACAGCCACATC	0.418																																						dbGAP											0													87.0	84.0	85.0					19																	52521719		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.44T>G	19.37:g.52521719A>C	ENSP00000270649:p.Val15Gly		Q494T8|Q8TCF4|Q9BSN8	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.V15G	ENST00000270649.6	37	c.44	CCDS12847.1	19	.	.	.	.	.	.	.	.	.	.	A	17.79	3.477112	0.63849	.	.	ENSG00000142556	ENST00000356322;ENST00000270649	T;T	0.04758	3.56;3.56	3.22	3.22	0.36961	Krueppel-associated box (4);	.	.	.	.	T	0.34890	0.0913	H	0.99117	4.435	0.44492	D	0.997432	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.53085	-0.8488	9	0.87932	D	0	.	9.7872	0.40684	1.0:0.0:0.0:0.0	.	15;15	Q8N883;Q9BSN8	ZN614_HUMAN;.	G	15	ENSP00000348674:V15G;ENSP00000270649:V15G	ENSP00000270649:V15G	V	-	2	0	ZNF614	57213531	0.984000	0.35163	0.963000	0.40424	0.975000	0.68041	4.979000	0.63806	1.464000	0.47987	0.477000	0.44152	GTG	ZNF614	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000142556		0.418	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF614	HGNC	protein_coding	OTTHUMT00000462407.1	168	0.59	1	A	NM_025040		52521719	52521719	-1	no_errors	ENST00000270649	ensembl	human	known	69_37n	missense	125	16.11	24	SNP	0.986	C
ZNF616	90317	genome.wustl.edu	37	19	52633752	52633752	+	Splice_Site	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:52633752A>C	ENST00000600228.1	-	2	274		c.e2+1		ZNF616_ENST00000330123.5_Splice_Site|ZNF616_ENST00000597013.1_Splice_Site|CTC-471J1.8_ENST00000594362.1_RNA|ZNF616_ENST00000596290.1_Splice_Site	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616						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(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTATCACTCTACCTGAGTAGC	0.418																																						dbGAP											0													294.0	235.0	255.0					19																	52633752		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.12+1T>G	19.37:g.52633752A>C			B3KRV1|Q0P658|Q658V7	Splice_Site	SNP	-	e1+2	ENST00000600228.1	37	c.12+2	CCDS33090.1	19	.	.	.	.	.	.	.	.	.	.	A	2.720	-0.266722	0.05754	.	.	ENSG00000204611	ENST00000330123	.	.	.	0.149	0.149	0.14863	.	.	.	.	.	.	.	.	.	.	.	0.22989	N	0.998465	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF616	57325564	0.107000	0.21998	0.167000	0.22817	0.043000	0.13939	0.241000	0.18065	0.166000	0.19597	0.164000	0.16699	.	ZNF616	-	-	ENSG00000204611		0.418	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	295	0.34	1	A	XM_030892	Intron	52633752	52633752	-1	no_errors	ENST00000330123	ensembl	human	known	69_37n	splice_site	193	13.45	30	SNP	0.199	C
ZNF628	89887	genome.wustl.edu	37	19	55994427	55994427	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:55994427A>C	ENST00000598519.1	+	3	2420	c.1867A>C	c.(1867-1869)Acc>Ccc	p.T623P	NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.T619P|NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	623					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T619P(2)		endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCGCCCCTTCACCTGCCCCAT	0.711																																						dbGAP											2	Substitution - Missense(2)	kidney(2)											26.0	28.0	27.0					19																	55994427		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1867A>C	19.37:g.55994427A>C	ENSP00000469591:p.Thr623Pro		Q86X34	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T619P	ENST00000598519.1	37	c.1855	CCDS33116.3	19	.	.	.	.	.	.	.	.	.	.	.	9.458	1.092370	0.20471	.	.	ENSG00000197483	ENST00000391718	T	0.18338	2.22	3.91	-4.53	0.03462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.980252	0.08264	U	0.972617	T	0.08358	0.0208	N	0.16233	0.39	0.21445	N	0.999686	B	0.26483	0.15	B	0.24006	0.05	T	0.35076	-0.9803	10	0.62326	D	0.03	-3.9176	4.0986	0.10004	0.4975:0.0:0.2207:0.2819	.	619	Q5EBL2	ZN628_HUMAN	P	619	ENSP00000375598:T619P	ENSP00000375598:T619P	T	+	1	0	ZNF628	60686239	0.000000	0.05858	0.124000	0.21820	0.343000	0.28985	-0.189000	0.09629	-0.886000	0.03966	-1.237000	0.01550	ACC	ZNF628	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197483		0.711	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	HGNC	protein_coding	OTTHUMT00000317934.2	24	0.00	0	A	XM_058964		55994427	55994427	+1	no_errors	ENST00000391718	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	0.525	C
ZNF646	9726	genome.wustl.edu	37	16	31092019	31092019	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr16:31092019T>G	ENST00000394979.2	+	1	4797	c.4374T>G	c.(4372-4374)ggT>ggG	p.G1458G	ZNF646_ENST00000300850.5_Silent_p.G1458G			O15015	ZN646_HUMAN	zinc finger protein 646	1458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGTCCTGGGGTGCAGGGAAGG	0.627																																						dbGAP											0													43.0	56.0	52.0					16																	31092019		2196	4298	6494	-	-	-	SO:0001819	synonymous_variant	0			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4374T>G	16.37:g.31092019T>G			Q8IVD8	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G1458	ENST00000394979.2	37	c.4374		16																																																																																			ZNF646	-	NULL	ENSG00000167395		0.627	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	144	0.68	1	T	NM_014699		31092019	31092019	+1	no_errors	ENST00000300850	ensembl	human	known	69_37n	silent	178	14.42	30	SNP	0.000	G
ZNF683	257101	genome.wustl.edu	37	1	26691431	26691431	+	Silent	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr1:26691431T>G	ENST00000436292.1	-	4	726	c.606A>C	c.(604-606)ccA>ccC	p.P202P	ZNF683_ENST00000349618.3_Silent_p.P202P|ZNF683_ENST00000374204.1_Silent_p.P202P|ZNF683_ENST00000403843.1_Silent_p.P202P			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	202					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		ACAGGTGGGGTGGAGGCAGGA	0.602																																						dbGAP											0													75.0	74.0	75.0					1																	26691431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.606A>C	1.37:g.26691431T>G			Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P202	ENST00000436292.1	37	c.606		1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.491777	0.26774	.	.	ENSG00000176083	ENST00000374203	.	.	.	4.5	-7.23	0.01480	.	.	.	.	.	T	0.15262	0.0368	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20638	-1.0269	4	.	.	.	-0.837	1.2504	0.01981	0.2557:0.1728:0.379:0.1925	.	.	.	.	P	134	.	.	H	-	2	0	ZNF683	26564018	0.002000	0.14202	0.052000	0.19188	0.714000	0.41099	-0.816000	0.04477	-1.761000	0.01310	0.459000	0.35465	CAC	ZNF683	-	NULL	ENSG00000176083		0.602	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF683	HGNC	protein_coding	OTTHUMT00000009794.2	186	0.00	0	T	NM_173574		26691431	26691431	-1	no_errors	ENST00000403843	ensembl	human	known	69_37n	silent	186	15.38	34	SNP	0.000	G
ZNF76	7629	genome.wustl.edu	37	6	35260474	35260474	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr6:35260474A>C	ENST00000373953.3	+	10	1341	c.1075A>C	c.(1075-1077)Acc>Ccc	p.T359P	ZNF76_ENST00000440666.2_Missense_Mutation_p.T333P|ZNF76_ENST00000339411.5_Missense_Mutation_p.T359P	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	359					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GCAGACCTCCACCTTGGCCAT	0.617																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	dbGAP											0													96.0	64.0	75.0					6																	35260474		2203	4300	6503	-	-	-	SO:0001583	missense	0			M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.1075A>C	6.37:g.35260474A>C	ENSP00000363064:p.Thr359Pro		Q9BQB2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T359P	ENST00000373953.3	37	c.1075	CCDS4801.1	6	.	.	.	.	.	.	.	.	.	.	A	29.0	4.972409	0.92919	.	.	ENSG00000065029	ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T	0.52754	0.65;0.65;0.65	5.15	5.15	0.70609	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46442	D	0.000297	T	0.53400	0.1794	L	0.46741	1.465	0.58432	D	0.999999	D;D	0.76494	0.999;0.991	D;D	0.85130	0.997;0.929	T	0.57481	-0.7804	10	0.59425	D	0.04	.	14.3192	0.66473	1.0:0.0:0.0:0.0	.	359;359	P36508-2;P36508	.;ZNF76_HUMAN	P	359;359;333;359	ENSP00000363064:T359P;ENSP00000392243:T333P;ENSP00000344097:T359P	ENSP00000344097:T359P	T	+	1	0	ZNF76	35368452	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.123000	0.94387	2.163000	0.67991	0.402000	0.26972	ACC	ZNF76	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000065029		0.617	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF76	HGNC	protein_coding	OTTHUMT00000040279.2	80	0.00	0	A	NM_003427		35260474	35260474	+1	no_errors	ENST00000373953	ensembl	human	known	69_37n	missense	41	16.33	8	SNP	1.000	C
ZNF830	91603	genome.wustl.edu	37	17	33289538	33289538	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:33289538T>G	ENST00000361952.3	+	1	990	c.953T>G	c.(952-954)gTg>gGg	p.V318G	CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000436961.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	318					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				TACCGACGGGTGGAAAAGCTA	0.453																																						dbGAP											0													71.0	70.0	70.0					17																	33289538		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.953T>G	17.37:g.33289538T>G	ENSP00000354518:p.Val318Gly		Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	smart_Znf_U1	p.V318G	ENST00000361952.3	37	c.953	CCDS32618.1	17	.	.	.	.	.	.	.	.	.	.	T	18.38	3.612084	0.66672	.	.	ENSG00000198783	ENST00000361952	T	0.31510	1.49	6.08	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.60984	-0.7154	10	0.87932	D	0	-32.4053	10.4103	0.44289	0.0:0.0:0.164:0.836	.	318	Q96NB3	ZN830_HUMAN	G	318	ENSP00000354518:V318G	ENSP00000354518:V318G	V	+	2	0	ZNF830	30313651	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	6.802000	0.75175	1.093000	0.41377	0.533000	0.62120	GTG	ZNF830	-	NULL	ENSG00000198783		0.453	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF830	HGNC	protein_coding	OTTHUMT00000448018.1	105	0.00	0	T	NM_052857		33289538	33289538	+1	no_errors	ENST00000361952	ensembl	human	known	69_37n	missense	66	18.52	15	SNP	1.000	G
ZNRF3	84133	genome.wustl.edu	37	22	29439324	29439324	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr22:29439324T>G	ENST00000544604.2	+	4	714	c.539T>G	c.(538-540)gTg>gGg	p.V180G	ZNRF3_ENST00000402174.1_Missense_Mutation_p.V80G|ZNRF3_ENST00000406323.3_Missense_Mutation_p.V80G|ZNRF3_ENST00000332811.4_Missense_Mutation_p.V80G	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	180					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						AAGAGGCCGGTGGTGTATGTG	0.522																																						dbGAP											0													73.0	78.0	76.0					22																	29439324		1966	4156	6122	-	-	-	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.539T>G	22.37:g.29439324T>G	ENSP00000443824:p.Val180Gly		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V180G	ENST00000544604.2	37	c.539	CCDS56225.1	22	.	.	.	.	.	.	.	.	.	.	T	26.0	4.693784	0.88735	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.65537	-0.6144	10	0.87932	D	0	-8.7161	15.81	0.78552	0.0:0.0:0.0:1.0	.	180	Q9ULT6	ZNRF3_HUMAN	G	180;80;80;80	ENSP00000443824:V180G;ENSP00000328614:V80G;ENSP00000384456:V80G;ENSP00000384553:V80G	ENSP00000328614:V80G	V	+	2	0	ZNRF3	27769324	1.000000	0.71417	0.998000	0.56505	0.849000	0.48306	7.476000	0.81055	2.326000	0.78906	0.533000	0.62120	GTG	ZNRF3	-	NULL	ENSG00000183579		0.522	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF3	HGNC	protein_coding	OTTHUMT00000320943.2	132	0.00	0	T	XM_290972		29439324	29439324	+1	no_errors	ENST00000544604	ensembl	human	known	69_37n	missense	57	16.90	12	SNP	1.000	G
ZSCAN5B	342933	genome.wustl.edu	37	19	56701656	56701656	+	Missense_Mutation	SNP	T	T	G			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr19:56701656T>G	ENST00000586855.2	-	5	1341	c.1028A>C	c.(1027-1029)cAc>cCc	p.H343P	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.H343P			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	343					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCCATCTGGGTGACTGACCGG	0.547																																						dbGAP											0													79.0	85.0	83.0					19																	56701656		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1028A>C	19.37:g.56701656T>G	ENSP00000466072:p.His343Pro			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.H343P	ENST00000586855.2	37	c.1028	CCDS46203.1	19	.	.	.	.	.	.	.	.	.	.	T	5.882	0.346895	0.11126	.	.	ENSG00000197213	ENST00000358992	T	0.05996	3.36	2.14	-4.28	0.03732	.	.	.	.	.	T	0.07324	0.0185	M	0.74881	2.28	0.09310	N	1	B	0.27068	0.167	B	0.31016	0.123	T	0.28586	-1.0039	9	0.46703	T	0.11	.	0.4406	0.00485	0.1792:0.2481:0.1834:0.3893	.	343	A6NJL1	ZSA5B_HUMAN	P	343	ENSP00000351883:H343P	ENSP00000351883:H343P	H	-	2	0	ZSCAN5B	61393468	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.655000	0.05348	-3.103000	0.00244	0.254000	0.18369	CAC	ZSCAN5B	-	NULL	ENSG00000197213		0.547	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	HGNC	protein_coding	OTTHUMT00000457834.2	167	0.00	0	T	NM_001080456		56701656	56701656	-1	no_errors	ENST00000358992	ensembl	human	known	69_37n	missense	137	15.43	25	SNP	0.000	G
ZZEF1	23140	genome.wustl.edu	37	17	3916827	3916827	+	Missense_Mutation	SNP	A	A	C			TCGA-A2-A0T5-01A-21D-A099-09	TCGA-A2-A0T5-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	93772a4b-d2bc-44e3-837e-fe71ecd4e9aa	a6f453e4-153d-489b-b138-b0a0e519e88c	g.chr17:3916827A>C	ENST00000381638.2	-	52	8619	c.8495T>G	c.(8494-8496)gTg>gGg	p.V2832G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2832							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGCCACGCCCACCAGCCATTC	0.532																																						dbGAP											0													86.0	81.0	83.0					17																	3916827		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8495T>G	17.37:g.3916827A>C	ENSP00000371051:p.Val2832Gly		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.V2832G	ENST00000381638.2	37	c.8495	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	A	27.7	4.858461	0.91433	.	.	ENSG00000074755	ENST00000381638	T	0.36520	1.25	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.50956	0.1646	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.52823	-0.8524	10	0.72032	D	0.01	-17.1218	16.3648	0.83312	1.0:0.0:0.0:0.0	.	2832	O43149	ZZEF1_HUMAN	G	2832	ENSP00000371051:V2832G	ENSP00000371051:V2832G	V	-	2	0	ZZEF1	3863576	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.730000	0.91510	2.263000	0.75096	0.533000	0.62120	GTG	ZZEF1	-	NULL	ENSG00000074755		0.532	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	76	0.00	0	A	NM_015113		3916827	3916827	-1	no_errors	ENST00000381638	ensembl	human	known	69_37n	missense	39	26.42	14	SNP	1.000	C
